[ { "uniprot_canonical_ac": "A6NIR3-1", "uniprot_id": [ { "id": "AGAP5_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NIR3", "type": "external" } ], "mass": 75492.0, "length": 686, "protein_name": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5", "gene_name": "AGAP5", "organism": "Human", "refseq_name": "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5", "refseq_ac": [ { "id": "NP_001137472", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137472", "type": "external" } ], "gene_names_uniprotkb": "AGAP5; CTGLF2", "gene_names_refseq": "AGAP5; CTGLF2", "protein_names_uniprotkb": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5; AGAP-5; Centaurin-gamma-like family member 2", "protein_names_refseq": "AGAP-5; arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5; centaurin, gamma-like family, member 2", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:729092)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;24715725;34932366;37340703;39894887", "class_list": "", "function": "Putative GTPase-activating protein., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "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": "A8MSN5", "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": 0.8, "record_id": "A6NIR3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06280-1", "uniprot_id": [ { "id": "AGAL_HUMAN", "url": "https://www.uniprot.org/uniprot/P06280", "type": "external" } ], "mass": 48767.0, "length": 429, "protein_name": "Alpha-galactosidase A", "gene_name": "GLA", "organism": "Human", "refseq_name": "alpha-galactosidase A isoform b precursor", "refseq_ac": [ { "id": "NP_000160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000160", "type": "external" } ], "gene_names_uniprotkb": "GLA", "gene_names_refseq": "GALA; GLA", "protein_names_uniprotkb": "Alpha-galactosidase A; 3.2.1.22; Alpha-D-galactosidase A; Alpha-D-galactoside galactohydrolase; Galactosylgalactosylglucosylceramidase GLA; Melibiase", "protein_names_refseq": "agalsidase alfa; alpha-D-galactosidase A; alpha-D-galactoside galactohydrolase 1; alpha-gal A; alpha-galactosidase A isoform b precursor; alpha-galactosidase A; galactosylgalactosylglucosylceramidase GLA; melibiase", "tax_id": 9606, "disease": "Fabry disease (Disease Ontology:DOID:14499); lysosomal storage disease (Disease Ontology:DOID:3211)", "pathway": " (hsa:2717); (R-HSA-6798695); (R-HSA-9840310)", "pathway_count": 3, "publication_count": 225, "publication_id_list": "10.1101/2023.09.13.557529;10090526;10191093;10196694;10208848;10406958;10666480;10781797;10823942;10838196;10861246;10916280;10942779;10993717;11076046;11237011;11295840;11350180;11489889;11531972;11668641;11707436;11784319;11889412;12374214;12510003;12518053;12566438;12594539;12662933;12694230;12786754;12796853;12885774;12888274;12909021;1315715;1352293;1352993;14635108;15003450;15162124;15213228;15458386;15712228;15714521;15773042;15845354;16229686;16230343;1634229;16478472;1650161;16517606;16533976;16595074;16698036;1670590;1678251;17105727;1718266;1720305;1740330;1756715;1840600;1846223;18524657;1889421;1907800;1915858;19159218;19405096;19621417;19836391;2001789;20505683;20728381;21081667;2152885;2171331;23090970;23393592;23430502;235289;23650620;239890;24190977;24714562;2539398;25418920;2542896;25502872;2562955;25645385;26415523;26992070;27142856;2717620;27211852;27726376;27846572;27893789;27920218;28126847;28218747;2836863;28467828;28649982;28832583;28834231;2892762;29242379;29314611;29317506;29443946;29508533;29557506;2960521;2965147;29692406;2970528;2971395;29741879;29747811;2976757;29789417;29802621;3014515;30192525;30315122;3036505;3048308;30573663;30833945;31200018;31217245;3136930;31495489;3158659;31611695;31844290;32157095;32161166;32350084;32502341;32897882;32938616;32983136;33043033;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34357683;34433824;3456607;34932366;35051231;35138101;35154160;35251023;35494241;35561310;35580925;36284347;37074911;37217939;38295534;38474401;38847497;39534244;39940;5135907;5164093;527942;5822067;7503918;7504405;7531540;7575533;7596372;7599642;7626884;7628016;7730378;7744740;7759078;7852280;7911050;8069316;8281145;8370580;8395937;8399327;8573994;8591035;8663398;8692836;8738659;8804427;8807334;8834244;8863162;8875188;8878432;8889578;8931708;8955159;8985184;9100224;9105656;9217013;9338580;9452068;9452090;9452111;9520418;9521684;9554750;9620884", "class_list": "glycogene;glycosylhydrolase", "function": "Catalyzes the hydrolysis of glycosphingolipids and participates in their degradation in the lysosome., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a novel nonsense mutation in alpha-galactosidase A that causes Fabry disease in a Chinese family., [RefSeq, PubMed]; Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry., [RefSeq, PubMed]; This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [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": 3, "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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 8, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 960, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 51, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q6LER7", "ec_number_list": [ { "id": "4.6.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.19", "type": "external" }, { "id": "3.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.24", "type": "external" }, { "id": "1.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.11.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.2.2", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.22", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.2.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.52", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "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": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "3.5.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.26", "type": "external" }, { "id": "3.4.21.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.76", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.1.6.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.4", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "6.3.4.21", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.21", "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": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "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" }, { "id": "3.5.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.4", "type": "external" }, { "id": "3.4.14.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.2", "type": "external" }, { "id": "3.5.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.15", "type": "external" } ], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0016787 hydrolase activity;GO:0042803 protein homodimerization activity;GO:0003824 catalytic activity;GO:0004557 alpha-galactosidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0009311 oligosaccharide metabolic process;GO:0016139 glycoside catabolic process;GO:0045019 negative regulation of nitric oxide biosynthetic process;GO:0046477 glycosylceramide catabolic process;GO:0046479 glycosphingolipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 28.3, "record_id": "P06280-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100000001.110.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPS8-1", "uniprot_id": [ { "id": "ANR26_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPS8", "type": "external" } ], "mass": 196411.0, "length": 1710, "protein_name": "Ankyrin repeat domain-containing protein 26", "gene_name": "ANKRD26", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 26 isoform 2", "refseq_ac": [ { "id": "NP_001242982", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242982", "type": "external" } ], "gene_names_uniprotkb": "ANKRD26; KIAA1074", "gene_names_refseq": "ANKRD26; THC2; bA145E8.1", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 26", "protein_names_refseq": "GNS/ANKRD26/NCKAP1L fusion; ankyrin repeat domain containing 26; ankyrin repeat domain-containing protein 26 isoform 2; ankyrin repeat domain-containing protein 26", "tax_id": 9606, "disease": "thrombocytopenia (Disease Ontology:DOID:1588); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:22852); (R-HSA-9696264); (R-HSA-9696270); (R-HSA-9696273)", "pathway_count": 4, "publication_count": 67, "publication_id_list": "10664463;11237011;11784792;11940653;12244061;12842009;14654843;14732713;15738000;16364570;16481321;17081983;17525332;18452278;18669648;18996843;19103606;19136556;19413330;19615748;20068231;20811643;21211618;21467542;22666460;23186163;23301498;24690281;25645385;25888806;25892735;26969432;27543614;28218747;28228285;28832583;29242379;29557506;29769354;30524438;31844290;31871319;32357974;32387766;32897882;32938616;33141586;33298915;33691108;33912179;33968037;34087483;34509645;34561969;34932366;35051231;35751752;35796010;36010968;36626254;37340703;38253038;38757516;39212265;39894887;8649376;9531558", "class_list": "", "function": "ANKRD26-Related Thrombocytopenia and Predisposition to Myeloid Neoplasms. Review article, [RefSeq, PubMed]; Acts as a regulator of adipogenesis. Involved in the regulation of the feeding behavior., [UniProtKB, UniProtKB]; Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26., [RefSeq, PubMed]; Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree., [RefSeq, PubMed]; Inherited thrombocytopenia associated with a variant in the FLI1 binding site in the 5' UTR of ANKRD26., [RefSeq, PubMed]; Mutations in the 5' UTR of ANKRD26 are implicated in thrombocytopenia 2., [RefSeq, PubMed]; Platelet functional abnormalities and clinical presentation in pediatric patients with germline RUNX1, ANKRD26, and ETV6 mutations. Publication Status: Online-Only, [RefSeq, PubMed]; The ANKRD26-related thrombocytopenia has to be taken into consideration in the differential diagnosis of isolated thrombocytopenias., [RefSeq, PubMed]; This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found 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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 0, "reported_glycation": 0, "reported_snv": 51, "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": "A6NH29;Q2TAZ3;Q6ZR14;Q9H1Q1;Q9NSK9;Q9NTD5;Q9NW69", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome", "go_biological_process": "GO:0045599 negative regulation of fat cell differentiation", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q9UPS8-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYR0-1", "uniprot_id": [ { "id": "CF206_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYR0", "type": "external" } ], "mass": 71193.0, "length": 622, "protein_name": "Cilia- and flagella-associated protein 206", "gene_name": "CFAP206", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 206", "refseq_ac": [ { "id": "NP_001026913", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026913", "type": "external" } ], "gene_names_uniprotkb": "CFAP206; C6orf165", "gene_names_refseq": "C6orf165; CFAP206; SPGF102; dJ382I10.1", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 206", "protein_names_refseq": "UPF0704 protein C6orf165; cilia- and flagella-associated protein 206", "tax_id": 9606, "disease": "spermatogenic failure 102 (Disease Ontology:DOID:0070731)", "pathway": " (hsa:154313)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;18491316;30379171;32938616;33298915;33717175;33912179;33981976;34255152;34561969;35051231", "class_list": "", "function": "Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse., [RefSeq, PubMed]; Essential for sperm motility and is involved in the regulation of the beating frequency of motile cilia on the epithelial cells of the respiratory tract. Required for the establishment of radial spokes in sperm flagella., [UniProtKB, 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8K969;E1P507;Q8N9U4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0001534 radial spoke;GO:0005929 cilium;GO:0031514 motile cilium;GO:0036126 sperm flagellum;GO:0005930 axoneme", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0003341 cilium movement;GO:0003356 regulation of cilium beat frequency;GO:0035082 axoneme assembly;GO:0007288 sperm axoneme assembly", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8IYR0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWK6-1", "uniprot_id": [ { "id": "AGRA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWK6", "type": "external" } ], "mass": 146151.0, "length": 1321, "protein_name": "Adhesion G protein-coupled receptor A3", "gene_name": "ADGRA3", "organism": "Human", "refseq_name": "adhesion G protein-coupled receptor A3 precursor", "refseq_ac": [ { "id": "NP_660333", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660333", "type": "external" } ], "gene_names_uniprotkb": "ADGRA3; GPR125; PRO1113", "gene_names_refseq": "ADGRA3; GPR125; PGR21; TEM5L", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor A3; G protein-coupled receptor 125", "protein_names_refseq": "adhesion G protein-coupled receptor A3 precursor; probable G-protein coupled receptor 125", "tax_id": 9606, "disease": "", "pathway": " (hsa:166647)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12565841;12975309;15021905;17081983;17457313;18512783;22299025;23090970;24190977;24715725;24902969;25645385;25713288;25892735;29242379;29557506;29769354;30231258;31020640;31217245;31659746;31844290;32157095;32161166;32350084;32387766;32897882;32938616;33968037;34171305;34211107;34509645;35051231;35580925;37074911", "class_list": "", "function": "Data support that the constitutive internalization of GPR125 contributes to its biological functions by controlling receptor surface expression and accessibility for ligands, [RefSeq, PubMed]; GPR125 overexpression inhibited the beta-catenin transcriptional activity, and down-regulated the expression levels of the Wnt downstream proteins-Axin2, c-Myc, cylinD1, and lef-1. Publication Status: Online-Only, [RefSeq, PubMed]; ID4 and GPR125 are expressed on partially overlapping spermatogonial populations and are more broadly expressed in normal adult human testis. ID4 and GPR125 could be used for identifying previously unrecognized human spermatogonial subpopulations, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Orphan receptor that may have a role in planar cell polarity pathway., [UniProtKB, UniProtKB]; This gene encodes a member of the G protein-coupled receptor superfamily. This membrane protein may play a role in tumor angiogenesis through its interaction with the human homolog of the Drosophila disc large tumor suppressor gene. This gene is mapped to a candidate region of chromosome 4 which may be associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2012]., [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": 7, "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": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 69, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "Q6UXK9;Q86SQ5;Q8TC55", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0009897 external side of plasma 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": 5.1, "record_id": "Q8IWK6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVK2-1", "uniprot_id": [ { "id": "ALG8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVK2", "type": "external" } ], "mass": 60088.0, "length": 526, "protein_name": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "gene_name": "ALG8", "organism": "Human", "refseq_name": "dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform b", "refseq_ac": [ { "id": "NP_001007028", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007028", "type": "external" } ], "gene_names_uniprotkb": "ALG8; HUSSY-02", "gene_names_refseq": "ALG8; CDG1H; PCLD3", "protein_names_uniprotkb": "Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase; 2.4.1.265; Asparagine-linked glycosylation protein 8 homolog; Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase; Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase", "protein_names_refseq": "HUSSY-02; asparagine-linked glycosylation 8 alpha-13-glucosyltransferase-like protein; asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase); asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase); asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog; asparagine-linked glycosylation protein 8 homolog; dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase; dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform b; dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase; dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase; dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase; dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl-alpha-1, 3-glucosyltransferase; probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase", "tax_id": 9606, "disease": "congenital disorder of glycosylation type I (Disease Ontology:DOID:0050570); polycystic liver disease 3 (Disease Ontology:DOID:0060976); congenital disorder of glycosylation Ih (Disease Ontology:DOID:0080560)", "pathway": " (hsa:79053); (R-HSA-446193); (R-HSA-4724325)", "pathway_count": 3, "publication_count": 123, "publication_id_list": "10.1101/2023.09.13.557529;10359825;10704531;11124703;11237011;11278778;11807558;11983712;12030331;12200473;12480927;12684507;12872255;14709599;14973778;14973782;15148656;15235028;15710750;15840742;15945070;16007612;16100110;16859551;16878994;18313027;18597486;19282279;22424782;22544926;22742743;23481700;24715725;25418920;25576301;25645385;25880248;25892735;26066342;26154972;26375851;26992070;27600516;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28375157;28514659;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30420707;30524438;30833945;31092671;31154438;31217245;31222486;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36454274;36574950;36581221;37938771;40307207;9451016;9597543", "class_list": "glycogene;glycosyltransferase", "function": "ALG8 Fuels Stemness Through Glycosylation of the WNT/Beta-Catenin Signaling Pathway in Colon Cancer., [RefSeq, PubMed]; Analysis of genetic variants in ALG8 in patients with congenital disorders of glycosylation, [RefSeq, PubMed]; Dolichyl pyrophosphate Glc1Man9GlcNAc2 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 second glucose residue from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide intermediate Glc(1)Man(9)GlcNAc(2)-PP-Dol to produce Glc(2)Man(9)GlcNAc(2)-PP-Dol. Glc(2)Man(9)GlcNAc(2)-PP-Dol is a substrate for ALG10, the following enzyme in the biosynthetic pathway (PubMed:12480927, PubMed:15235028). Required for PKD1/Polycystin-1 maturation and localization to the plasma membrane of the primary cilia (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease., [RefSeq, PubMed]; This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). 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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 736, "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": "A6NDW6;O60860", "ec_number_list": [ { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.265", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.265", "type": "external" } ], "go_molecular_function": "GO:0004583 dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity;GO:0042283 dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase activity;GO:0016758 hexosyltransferase activity", "go_cellular_component": "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": 81, "hit_score": 12.9, "record_id": "Q9BVK2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96Q83-1", "uniprot_id": [ { "id": "ALKB3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96Q83", "type": "external" } ], "mass": 33375.0, "length": 286, "protein_name": "Alpha-ketoglutarate-dependent dioxygenase alkB homolog 3", "gene_name": "ALKBH3", "organism": "Human", "refseq_name": "alpha-ketoglutarate-dependent dioxygenase alkB homolog 3", "refseq_ac": [ { "id": "NP_631917", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_631917", "type": "external" } ], "gene_names_uniprotkb": "ALKBH3; ABH3; DEPC1", "gene_names_refseq": "ABH3; ALKBH3; DEPC-1; DEPC1; PCA1; hABH3", "protein_names_uniprotkb": "Alpha-ketoglutarate-dependent dioxygenase alkB homolog 3; 1.14.11.33; 1.14.11.54; Alkylated DNA repair protein alkB homolog 3; DEPC-1; Prostate cancer antigen 1; hABH3", "protein_names_refseq": "alkB homolog 3, alpha-ketoglutaratedependent dioxygenase; alkB, alkylation repair homolog 3; alkylated DNA repair protein alkB homolog 3; alpha-ketoglutarate-dependent dioxygenase alkB homolog 3; prostate cancer antigen-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:221120); (R-HSA-112126)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "11237011;12226667;12486230;12594517;16174769;16858410;17968469;17979886;20714506;20934997;22055184;22645359;24714562;25576301;25645385;25797601;25944111;26024233;26728094;26863196;26863410;26992070;27846572;27920218;28218747;28446606;28832583;28834231;29144457;29242379;29437277;29493099;30315122;30379171;31844290;32157095;32161166;32350084;32387766;32488085;32897882;32938616;32983136;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34171305;34185709;34509645;35580925;36098205;38118002;38158383;38256217;39175405", "class_list": "", "function": "Crystallographic study reveals beta-strand jelly-roll fold of hABH3 that coordinates a catalytically active iron center by a conserved His1-X-Asp/Glu-X(n)-His2 motif [ABH3], [RefSeq, PubMed]; Dioxygenase that mediates demethylation of DNA and RNA containing 1-methyladenosine (m1A) (PubMed:12486230, PubMed:12594517, PubMed:16174769, PubMed:26863196, PubMed:26863410). Repairs alkylated DNA containing 1-methyladenosine (m1A) and 3-methylcytosine (m3C) by oxidative demethylation (PubMed:12486230, PubMed:12594517, PubMed:16174769, PubMed:25944111). Has a strong preference for single-stranded DNA (PubMed:12486230, PubMed:12594517, PubMed:16174769, PubMed:20714506). Able to process alkylated m3C within double-stranded regions via its interaction with ASCC3, which promotes DNA unwinding to generate single-stranded substrate needed for ALKBH3 (PubMed:22055184). Can repair exocyclic 3,N4-ethenocytosine adducs in single-stranded DNA (PubMed:25797601). Also acts on RNA (PubMed:12594517, PubMed:16174769, PubMed:16858410, PubMed:26863196, PubMed:26863410). Demethylates N(1)-methyladenosine (m1A) RNA, an epigenetic internal modification of messenger RNAs (mRNAs) highly enriched within 5'-untranslated regions (UTRs) and in the vicinity of start codons (PubMed:26863196, PubMed:26863410). Requires molecular oxygen, alpha-ketoglutarate and iron (PubMed:16858410, PubMed:22055184)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Dioxygenase that mediates demethylation of DNA and RNA containing 1-methyladenosine (m1A). Repairs alkylated DNA containing 1-methyladenosine (m1A) and 3-methylcytosine (m3C) by oxidative demethylation. Has a strong preference for single-stranded DNA. Able to process alkylated m3C within double-stranded regions via its interaction with ASCC3, which promotes DNA unwinding to generate single-stranded substrate needed for ALKBH3. Can repair exocyclic 3,N4-ethenocytosine adducs in single-stranded DNA. Also acts on RNA. Demethylates N(1)-methyladenosine (m1A) RNA, an epigenetic internal modification of messenger RNAs (mRNAs) highly enriched within 5'-untranslated regions (UTRs) and in the vicinity of start codons. Requires molecular oxygen, alpha-ketoglutarate and iron., [UniProtKB, UniProtKB]; Histone lactylation-boosted ALKBH3 potentiates tumor progression and diminished promyelocytic leukemia protein nuclear condensates by m1A demethylation of SP100A., [RefSeq, PubMed]; LncRNA ALKBH3-AS1 enhances ALKBH3 mRNA stability to promote hepatocellular carcinoma cell proliferation and invasion., [RefSeq, PubMed]; PCA-1 might be a novel diagnostic marker for prostate cancer, and increased PCA-1 expression might denote more aggressive variants of prostate cancer [PCA-1]., [RefSeq, PubMed]; PUS7-dependent pseudouridylation of ALKBH3 mRNA inhibits gastric cancer progression., [RefSeq, PubMed]; The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 (MIM 610602) and ALKBH3 are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008]., [RefSeq]; The Molecular Basis of Human ALKBH3 Mediated RNA N[1] -methyladenosine (m[1] A) Demethylation., [RefSeq, PubMed]; The Role of Key Amino Acids of the Human Fe(II)/2OG-Dependent Dioxygenase ALKBH3 in Structural Dynamics and Repair Activity toward Methylated DNA. 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": 19, "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": "A6NDJ1;Q3SYI0;Q6NX57;Q96BU8", "ec_number_list": [ { "id": "1.14.11.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.51", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "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": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "1.14.11.54", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.54", "type": "external" } ], "go_molecular_function": "GO:0008198 ferrous iron binding;GO:0031418 L-ascorbic acid binding;GO:1990930 mRNA N1-methyladenosine dioxygenase activity;GO:0035515 oxidative RNA demethylase activity;GO:0035516 broad specificity oxidative DNA demethylase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005737 cytoplasm", "go_biological_process": "GO:0006281 DNA repair;GO:0008283 cell population proliferation;GO:0006307 DNA alkylation repair;GO:2000766 negative regulation of cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q96Q83-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NW15-1", "uniprot_id": [ { "id": "ANO10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NW15", "type": "external" } ], "mass": 76329.0, "length": 660, "protein_name": "Anoctamin-10", "gene_name": "ANO10", "organism": "Human", "refseq_name": "anoctamin-10 isoform 2", "refseq_ac": [ { "id": "NP_001191760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191760", "type": "external" } ], "gene_names_uniprotkb": "ANO10; TMEM16K", "gene_names_refseq": "ANO10; SCAR10; TMEM16K", "protein_names_uniprotkb": "Anoctamin-10; Transmembrane protein 16K", "protein_names_refseq": "anoctamin-10 isoform 2; transmembrane protein 16K", "tax_id": 9606, "disease": "autosomal recessive spinocerebellar ataxia 10 (Disease Ontology:DOID:0050999)", "pathway": " (hsa:55129); (R-HSA-2672351); (R-HSA-9733458)", "pathway_count": 3, "publication_count": 149, "publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;11182090;11237011;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19620632;19808995;19953639;20056604;20388639;20466723;20525693;20538786;21040849;21092923;21527911;21607626;21642943;21984732;22002868;22075693;22302790;22773952;22946059;2298749;23112050;2321095;23481700;23616951;24715725;2536303;25576301;25892735;26359375;26562072;26992070;28071645;28154142;28228285;28514659;28790369;28832583;29242379;29769354;29786170;29789417;30315122;30429286;31423897;31477691;31611695;31844290;31848261;32125455;32157095;32161166;32350084;32362314;32488085;32512386;32532959;32620747;32703818;32721790;32938616;32942285;33051876;33298915;33310888;33493182;33494095;33581114;33592498;33717175;33827113;33890572;33968037;34171305;34213849;34504087;34528721;34561887;34613786;34732583;34929169;35051231;35343766;36010968;36241641;39269294;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Cognitive impairment seems to be a characteristic of the SCAR10 produced by an ANO10 gene mutation, with a range from mild impairment, especially involving prefrontal systems, to a severe cognitive impairment suggesting widespread cerebral involvement., [RefSeq, PubMed]; Data show that transmembrane protein 16K (TMEM16K) is an endoplasmic reticulum (ER)-resident lipid scramblase with a requirement for short chain lipids and calcium for robust activity. Publication Status: Online-Only, [RefSeq, PubMed]; Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1., [UniProtKB, PubMed, PubMed]; TMEM16K is an interorganelle regulator of endosomal sorting. Publication Status: Online-Only, [RefSeq, PubMed]; The transmembrane protein encoded by this gene belongs to the anoctamin family of calcium-activated chloride channels, also known as the transmembrane 16 family. The encoded protein contains eight transmembrane domains with cytosolic N- and C-termini. Defects in this gene may cause autosomal recessive spinocerebellar ataxia-10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]., [RefSeq]; [Rare forms of autosomal recessive spinocerebellar ataxia associated with mutations in the ANO10 (ATX-ANO10) and SYNE1 (ATX-SYNE1) 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K8K3;A8MV74;B3KTZ1;B3KY93;B4DJ83;B4DNK2;B7WP12;C9JHS1;Q8IXX9", "ec_number_list": [], "go_molecular_function": "GO:0005227 calcium-activated cation channel activity;GO:0005229 intracellularly calcium-gated chloride channel activity;GO:0005254 chloride channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0034220 monoatomic ion transmembrane transport;GO:1902476 chloride transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "Q9NW15-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2R3-1", "uniprot_id": [ { "id": "ANFY1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2R3", "type": "external" } ], "mass": 128399.0, "length": 1169, "protein_name": "Ankyrin repeat and FYVE domain-containing protein 1", "gene_name": "ANKFY1", "organism": "Human", "refseq_name": "ankyrin repeat and FYVE domain-containing protein 1 isoform 3", "refseq_ac": [ { "id": "NP_001244928", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244928", "type": "external" } ], "gene_names_uniprotkb": "ANKFY1; ANKHZN; KIAA1255", "gene_names_refseq": "ANKFY1; ANKHZN; BTBD23; ZFYVE14", "protein_names_uniprotkb": "Ankyrin repeat and FYVE domain-containing protein 1; Ankyrin repeats hooked to a zinc finger motif; Rab5-binding and ankyrin repeats-containing protein; Rabankyrin-5; Rank-5", "protein_names_refseq": "Rabankyrin-5; ankyrin repeat and FYVE domain-containing protein 1 isoform 3; ankyrin repeat and FYVE domain-containing protein 1; ankyrin repeat hooked to zinc finger motif; ankyrin repeats hooked to a zinc finger motif; rab5-binding and ankyrin repeats-containing protein; rank-5", "tax_id": 9606, "disease": "Charlevoix-Saguenay spastic ataxia (Disease Ontology:DOID:0050946)", "pathway": " (hsa:51479); (R-HSA-9013405)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10.1101/2023.09.13.557529;10092534;10940552;11237011;11784792;12577064;15328530;17064668;17916560;22284051;22665057;23087206;23096567;23186163;23481700;24102721;24715725;25418920;25576301;25645385;25746724;25892735;26992070;27481945;27600516;27846572;27852748;28228285;28467828;28486133;28832583;28834231;28947137;29242379;29393594;29493099;29508533;29557506;29769354;29776664;29786170;29959197;30429286;31217245;31844290;31871319;32157095;32350084;32357974;32387766;32502341;32938616;32983136;33092793;33592498;33691108;33717175;33968037;33981976;34019948;34171305;34357683;34405274;34509645;34932366;35051231;35580925;36010968;36215666;36241641;36284347;37938771;38665916;40307207;8945468", "class_list": "", "function": "ANKFY1 is essential for retinal endothelial cell proliferation and migration via VEGFR2/Akt/eNOS pathway., [RefSeq, PubMed]; Characterization of the related mouse gene, [RefSeq, PubMed]; Proposed effector of Rab5 (PubMed:15328530). Binds to phosphatidylinositol 3-phosphate (PI[3]P) (PubMed:15328530). Involved in homotypic early endosome fusion and to a lesser extent in heterotypic fusion of clathrin-coated vesicles with early endosomes (PubMed:15328530). Involved in macropinocytosis; the function is dependent on Rab5-GTP (PubMed:15328530). Required for correct endosomal localization (PubMed:15328530). Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB (PubMed:24102721). Regulates the subcellular localization of the retromer complex in a EHD1-dependent manner (PubMed:22284051). Involved in endosome-to-Golgi transport and biosynthetic transport to late endosomes and lysosomes indicative for a regulation of retromer complex-mediated retrograde transport (PubMed:22284051). Required for podocyte migration (PubMed:29959197)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Rab5 regulates and coordinates different endocytic mechanisms through its effector Rabankyrin-5, [RefSeq, PubMed]; Rabankyrin-5 is required for internalization and trafficking of the PDGF receptor., [RefSeq, PubMed]; This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of 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": 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": 25, "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": "A8KA65;Q5RKV4;Q9ULG5", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0031267 small GTPase binding;GO:1901981 phosphatidylinositol phosphate binding", "go_cellular_component": "GO:0005768 endosome;GO:0005769 early endosome;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006897 endocytosis;GO:0016197 endosomal transport;GO:0034058 endosomal vesicle fusion;GO:0042147 retrograde transport, endosome to Golgi;GO:0048549 positive regulation of pinocytosis", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q9P2R3-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15014-1", "uniprot_id": [ { "id": "MO4L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15014", "type": "external" } ], "mass": 32308.0, "length": 288, "protein_name": "Mortality factor 4-like protein 2", "gene_name": "MORF4L2", "organism": "Human", "refseq_name": "mortality factor 4-like protein 2", "refseq_ac": [ { "id": "NP_001135890", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135890", "type": "external" } ], "gene_names_uniprotkb": "MORF4L2; KIAA0026; MRGX", "gene_names_refseq": "MORF4L2; MORFL2; MRGX", "protein_names_uniprotkb": "Mortality factor 4-like protein 2; MORF-related gene X protein; Protein MSL3-2; Transcription factor-like protein MRGX", "protein_names_refseq": "MORF-related gene X protein; MSL3-2 protein; mortality factor 4-like protein 2; protein MSL3-2; transcription factor-like protein MRGX", "tax_id": 9606, "disease": "", "pathway": " (hsa:9643); (R-HSA-3214847)", "pathway_count": 2, "publication_count": 92, "publication_id_list": "10786633;10821277;11237011;12391155;12963728;14506250;15313887;16387653;18381289;18623064;18669648;19187765;19413330;20018852;20068231;23186163;24397554;24714562;24715725;25502872;25576301;25645385;25880248;25892735;26992070;27397612;27600516;27846572;27862975;27920218;28063628;28228285;28832583;28834231;29242379;29393594;29557506;29632046;29769354;29786170;29789417;30315122;30379171;30429286;30484775;30833945;31092671;31154438;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35318648;35580925;35900839;36010968;36215666;36241641;36284347;36581221;37217939;40596516;9427644;9558366;9880483;9891081", "class_list": "", "function": "Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histone H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. NuA4 may also play a direct role in DNA repair when directly recruited to sites of DNA damage. Also a component of the MSIN3A complex which acts to repress transcription by deacetylation of nucleosomal histones., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; MiR-3156-5p is downregulated in serum of MEN1 patients and regulates expression of MORF4L2. 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": 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": "B3KP92;D3DXA5;Q567V0;Q8J026", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0035267 NuA4 histone acetyltransferase complex;GO:0000786 nucleosome", "go_biological_process": "GO:0006281 DNA repair;GO:0006351 DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0006325 chromatin organization;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q15014-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969R5-1", "uniprot_id": [ { "id": "LMBL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969R5", "type": "external" } ], "mass": 79110.0, "length": 705, "protein_name": "Lethal(3)malignant brain tumor-like protein 2", "gene_name": "L3MBTL2", "organism": "Human", "refseq_name": "lethal(3)malignant brain tumor-like protein 2", "refseq_ac": [ { "id": "NP_113676", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113676", "type": "external" } ], "gene_names_uniprotkb": "L3MBTL2", "gene_names_refseq": "H-l(3)mbt-l; L3MBTL2; L3MBT", "protein_names_uniprotkb": "Lethal(3)malignant brain tumor-like protein 2; H-l(3)mbt-like protein 2; L(3)mbt-like protein 2", "protein_names_refseq": "H-l(3)mbt-like protein 2; L(3)mbt-like protein 2; L3MBTL2, polycomb repressive complex 1 subunit; l(3)mbt-like 2; lethal(3)malignant brain tumor-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:83746); (R-HSA-4551638); (R-HSA-8953750)", "pathway_count": 3, "publication_count": 94, "publication_id_list": "11171983;11230166;11237011;11682070;11960997;12004135;12032081;12909625;14578449;14701874;15014447;15199155;15536069;15592428;17001316;17018294;17600109;18408014;18452278;18477386;18562691;18628979;18669648;18691969;19233876;19241375;19413330;19651622;20068231;20098713;20351170;20417598;21406692;21596310;22402492;22493095;23186163;23750026;23954429;24068740;24366607;24369422;24627085;24715725;24782567;25114211;25218447;25391492;25576301;25704882;25755297;25772364;25880248;26154972;26992070;27068747;27846572;28063628;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29581593;29632046;30315122;30379171;30410026;30429286;31092671;31154438;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32897882;32938616;33592498;33691108;35051231;36010968;36241641;37992172;40596516;7623816;9501179;9689056;9704927", "class_list": "", "function": "Augmenting L3MBTL2-induced condensates suppresses tumor growth in osteosarcoma., [RefSeq, PubMed]; L3MBTL2 orchestrates ubiquitin signalling by dictating the sequential recruitment of RNF8 and RNF168 after DNA damage, regulating the DNA damage response pathway., [RefSeq, PubMed]; Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility. Its association with a chromatin-remodeling complex suggests that it may contribute to prevent expression of genes that trigger the cell into mitosis. Binds to monomethylated and dimethylated 'Lys-20' on histone H4. Binds histone H3 peptides that are monomethylated or dimethylated on 'Lys-4', 'Lys-9' or 'Lys-27'., [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": 13, "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": "Q8TEN1;Q96SC4;Q9BQI2;Q9UGS4", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0042393 histone binding;GO:1990841 promoter-specific chromatin binding;GO:0140005 histone H4K20me2 reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0031507 heterochromatin formation;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q969R5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAP6-1", "uniprot_id": [ { "id": "CEP76_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAP6", "type": "external" } ], "mass": 74413.0, "length": 659, "protein_name": "Centrosomal protein of 76 kDa", "gene_name": "CEP76", "organism": "Human", "refseq_name": "centrosomal protein of 76 kDa isoform b", "refseq_ac": [ { "id": "NP_001258918", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258918", "type": "external" } ], "gene_names_uniprotkb": "CEP76; C18orf9", "gene_names_refseq": "C18orf9; CEP76; HsT1705", "protein_names_uniprotkb": "Centrosomal protein of 76 kDa; Cep76", "protein_names_refseq": "centrosomal protein 76kDa; centrosomal protein of 76 kDa isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:79959); (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": 132, "publication_id_list": "11076968;11237011;11956313;12207013;12221128;12364337;12852856;13678582;14580337;14654843;15498487;15705883;16357211;16462731;16890155;17574030;17646400;17719545;18037885;18378770;18452278;18477460;18521620;18566290;18615013;18669648;18691976;18694559;18801063;19004860;19081074;19460342;19664994;19664995;19690332;19940019;20112406;20230748;20308558;20399632;20558667;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21792235;22094468;22179047;22365832;22433857;22544926;22641346;22653444;23141531;23141541;23253480;23348840;23400999;23481700;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24397554;24469809;24715725;24982133;25047611;25313408;25418920;25469497;25532896;25576301;25892735;26154972;26375851;26811146;26992070;27065328;27600516;27846572;27920218;28063628;28218747;28228285;28904123;29242379;29393594;29493099;29557506;29632046;30315122;30410026;30429286;30524438;31092671;31844290;32157095;32265295;32350084;32357974;32387766;32878946;32897882;32938616;33141586;33298915;33402344;33537174;33592498;33912179;33936100;33968037;34087483;34171305;34405274;34509645;35051231;35318648;35580925;36215666;36284347;7769006;7790358;8838651", "class_list": "", "function": "Centrosomal protein involved in regulation of centriole duplication. Required to limit centriole duplication to once per cell cycle by preventing centriole reduplication., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Enforced Cep76 expression specifically inhibits centriole amplification in cells undergoing multiple rounds of duplication without preventing the formation of extra procentrioles from a parental template., [RefSeq, PubMed]; The centriole protein CEP76 negatively regulates PLK1 activity in the cytoplasm for proper mitotic progression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B0YJB2;B4DXG5;B4DZW1;Q658N5;Q9H9U7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0005814 centriole;GO:0032991 protein-containing complex", "go_biological_process": "GO:0046599 regulation of centriole replication", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q8TAP6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UL8-1", "uniprot_id": [ { "id": "MAGI2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UL8", "type": "external" } ], "mass": 158754.0, "length": 1455, "protein_name": "Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2", "gene_name": "MAGI2", "organism": "Human", "refseq_name": "membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001288057", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288057", "type": "external" } ], "gene_names_uniprotkb": "MAGI2; ACVRINP1; AIP1; KIAA0705", "gene_names_refseq": "ACVRIP1; AIP-1; AIP1; ARIP1; MAGI-2; MAGI2; NPHS15; SSCAM", "protein_names_uniprotkb": "Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2; AIP-1; Atrophin-1-interacting protein 1; Atrophin-1-interacting protein A; MAGI-2; Membrane-associated guanylate kinase inverted 2", "protein_names_refseq": "activin receptor interacting protein 1; atrophin-1-interacting protein 1; atrophin-1-interacting protein A; membrane-associated guanylate kinase inverted 2; membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 isoform 2; membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2", "tax_id": 9606, "disease": "nephrotic syndrome type 15 (Disease Ontology:DOID:0080271); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:9863); (R-HSA-373753)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10393930;10541305;10611248;10760291;11237011;11340081;11562357;11707428;11733557;12660326;12668668;12846735;12865409;14570703;14633607;15331416;15545998;15579503;15634346;15843475;15994232;16464232;16525419;16543952;16630808;17893108;17923684;18033240;19443634;20068231;20233749;23751499;24608321;25645385;27932480;29557506;30429286;30779550;32157095;32387766;32938616;34509645;35051231;35294925;37358745;37950637;9647693", "class_list": "", "function": "LncRNA MAGI2-AS3-Encoded Polypeptide Restrains the Proliferation and Migration of Breast Cancer Cells., [RefSeq, PubMed]; MAGI2 ameliorates podocyte apoptosis of diabetic kidney disease through communication with TGF-beta-Smad3/nephrin pathway., [RefSeq, PubMed]; Seems to act as a scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins (By similarity). Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth (By similarity). May play a role in regulating activin-mediated signaling in neuronal cells (By similarity). Enhances the ability of PTEN to suppress AKT1 activation (PubMed:10760291). Plays a role in receptor-mediated clathrin-dependent endocytosis which is required for ciliogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB]; The TLR4/NF-kappaB/MAGI-2 signaling pathway mediates postoperative delirium., [RefSeq, PubMed]; The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 56, "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": "A4D1C1;A7E2C3;O60434;O60510;Q86UI7;Q9NP44;Q9UDQ5;Q9UDU1", "ec_number_list": [], "go_molecular_function": "GO:0070699 type II activin receptor binding;GO:0046332 SMAD binding;GO:0030159 signaling receptor complex adaptor activity;GO:0019902 phosphatase binding;GO:0031697 beta-1 adrenergic receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0008285 negative regulation of cell population proliferation;GO:0010976 positive regulation of neuron projection development;GO:1990090 cellular response to nerve growth factor stimulus", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q86UL8-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96CA5-1", "uniprot_id": [ { "id": "BIRC7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96CA5", "type": "external" } ], "mass": 32798.0, "length": 298, "protein_name": "Baculoviral IAP repeat-containing protein 7", "gene_name": "BIRC7", "organism": "Human", "refseq_name": "baculoviral IAP repeat-containing protein 7 isoform beta", "refseq_ac": [ { "id": "NP_071444", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071444", "type": "external" } ], "gene_names_uniprotkb": "BIRC7; KIAP; LIVIN; MLIAP; PRO21344; RNF50", "gene_names_refseq": "BIRC7; KIAP; LIVIN; ML-IAP; MLIAP; RNF50", "protein_names_uniprotkb": "Baculoviral IAP repeat-containing protein 7; 2.3.2.27; KIAP; Kidney inhibitor of apoptosis protein; Livin; ML-IAP; Melanoma inhibitor of apoptosis protein; RING finger protein 50; RING-type E3 ubiquitin transferase BIRC7", "protein_names_refseq": "RING finger protein 50; RING-type E3 ubiquitin transferase BIRC7; baculoviral IAP repeat-containing protein 7 isoform beta; kidney inhibitor of apoptosis protein; livin inhibitor of apoptosis; melanoma inhibitor of apoptosis protein", "tax_id": 9606, "disease": "colorectal adenoma (Disease Ontology:DOID:0050860); colorectal adenocarcinoma (Disease Ontology:DOID:0050861)", "pathway": " (hsa:79444); (R-HSA-9824594)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "11024045;11084335;11162435;11237011;11322947;11801603;11865055;12846571;12975309;14744763;15485396;15507434;16729033;17294084;18034418;18327259;19074843;19212346;21617971;22647378;25142731;29485866;30804224;31530632;31844290;32157095;35580925;35874702;35931997;37586765;37773704;38332512;38332513;9537257;9806836", "class_list": "", "function": "Apoptotic regulator capable of exerting proapoptotic and anti-apoptotic activities and plays crucial roles in apoptosis, cell proliferation, and cell cycle control (PubMed:11024045, PubMed:11084335, PubMed:11162435, PubMed:16729033, PubMed:17294084). Its anti-apoptotic activity is mediated through the inhibition of CASP3, CASP7 and CASP9, as well as by its E3 ubiquitin-protein ligase activity (PubMed:11024045, PubMed:16729033). As it is a weak caspase inhibitor, its anti-apoptotic activity is thought to be due to its ability to ubiquitinate DIABLO/SMAC targeting it for degradation thereby promoting cell survival (PubMed:16729033). May contribute to caspase inhibition, by blocking the ability of DIABLO/SMAC to disrupt XIAP/BIRC4-caspase interactions (PubMed:16729033). Protects against apoptosis induced by TNF or by chemical agents such as adriamycin, etoposide or staurosporine (PubMed:11084335, PubMed:11162435, PubMed:11865055). Suppression of apoptosis is mediated by activation of MAPK8/JNK1, and possibly also of MAPK9/JNK2 (PubMed:11865055). This activation depends on TAB1 and MAP3K7/TAK1 (PubMed:11865055). In vitro, inhibits CASP3 and proteolytic activation of pro-CASP9 (PubMed:11024045)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Blocks etoposide-induced apoptosis (PubMed:11162435, PubMed:11322947). Protects against natural killer (NK) cell-mediated killing (PubMed:18034418)., [UniProtKB, PubMed, PubMed, PubMed]; Blocks staurosporine-induced apoptosis (PubMed:11322947). Promotes natural killer (NK) cell-mediated killing (PubMed:18034418)., [UniProtKB, PubMed, PubMed]; Dendritic cells infected with recombinant adenoviral vector encoding mouse fibroblast activation protein-alpha and human livin alpha exert an antitumor effect against Lewis lung carcinoma in mice., [RefSeq, PubMed]; Livin expression promotes keratinocyte release of inflammatory mediators in psoriasis., [RefSeq, PubMed]; Livin is protective in UVB-induced skin photodamage by regulating keratinocyte activation and inflammatory responses., [RefSeq, PubMed]; SMAC negatively regulates the anti-apoptotic activity of melanoma inhibitor of apoptosis (ML-IAP)., [RefSeq, PubMed]; The clinicopathological and prognostic significances of IGF-1R and Livin expression in patients with colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Elevated levels of the encoded protein may be associated with cancer progression and play a role in chemotherapy sensitivity. Alternative splicing 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": 0, "reported_mutagensis": 4, "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": "Q9BQV0;Q9H2A8;Q9HAP7", "ec_number_list": [ { "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:0019899 enzyme binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity;GO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic process", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005813 centrosome", "go_biological_process": "GO:0042127 regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0046330 positive regulation of JNK cascade;GO:0006915 apoptotic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q96CA5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09211-1", "uniprot_id": [ { "id": "GSTP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P09211", "type": "external" } ], "mass": 23356.0, "length": 210, "protein_name": "Glutathione S-transferase P", "gene_name": "GSTP1", "organism": "Human", "refseq_name": "glutathione S-transferase P", "refseq_ac": [ { "id": "NP_000843", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000843", "type": "external" } ], "gene_names_uniprotkb": "GSTP1; FAEES3; GST3", "gene_names_refseq": "DFN7; FAEES3; GST3; GSTP1-1; GSTP1; GSTP; HEL-S-22; PI", "protein_names_uniprotkb": "Glutathione S-transferase P; 2.5.1.18; GST class-pi; GSTP1-1", "protein_names_refseq": "GST class-pi; deafness, X-linked 7; epididymis secretory protein Li 22; fatty acid ethyl ester synthase III; glutathione S-transferase P", "tax_id": 9606, "disease": "diffuse large B-cell lymphoma (Disease Ontology:DOID:0050745); colorectal adenoma (Disease Ontology:DOID:0050860); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); myelodysplastic syndrome (Disease Ontology:DOID:0050908); pre-malignant neoplasm (Disease Ontology:DOID:0060071); drug allergy (Disease Ontology:DOID:0060500); late onset Parkinson's disease (Disease Ontology:DOID:0060892); prostate cancer (Disease Ontology:DOID:10283); lymphoid leukemia (Disease Ontology:DOID:1037); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); urinary bladder cancer (Disease Ontology:DOID:11054); prostatic hypertrophy (Disease Ontology:DOID:11132); osteoporosis (Disease Ontology:DOID:11476); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); allergic disease (Disease Ontology:DOID:1205); Graves' disease (Disease Ontology:DOID:12361); cholestasis (Disease Ontology:DOID:13580); Plasmodium falciparum malaria (Disease Ontology:DOID:14067); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); respiratory system disease (Disease Ontology:DOID:1579); breast cancer (Disease Ontology:DOID:1612); congenital heart disease (Disease Ontology:DOID:1682); squamous cell carcinoma (Disease Ontology:DOID:1749); pancreatic cancer (Disease Ontology:DOID:1793); melanoma (Disease Ontology:DOID:1909); colon adenocarcinoma (Disease Ontology:DOID:234); multiple sclerosis (Disease Ontology:DOID:2377); ovarian cancer (Disease Ontology:DOID:2394); asthma (Disease Ontology:DOID:2841); testicular cancer (Disease Ontology:DOID:2998); acute kidney failure (Disease Ontology:DOID:3021); malignant astrocytoma (Disease Ontology:DOID:3069); high grade glioma (Disease Ontology:DOID:3070); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); atopic dermatitis (Disease Ontology:DOID:3310); carotid artery disease (Disease Ontology:DOID:3407); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); toxic encephalopathy (Disease Ontology:DOID:3602); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); pulmonary fibrosis (Disease Ontology:DOID:3770); bronchus carcinoma (Disease Ontology:DOID:3904); lung non-small cell carcinoma (Disease Ontology:DOID:3908); liver disease (Disease Ontology:DOID:409); conjunctivochalasis (Disease Ontology:DOID:4250); renal cell carcinoma (Disease Ontology:DOID:4450); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); movement disease (Disease Ontology:DOID:480); bronchiolo-alveolar adenocarcinoma (Disease Ontology:DOID:4926); cholangiocarcinoma (Disease Ontology:DOID:4947); bone marrow disease (Disease Ontology:DOID:4961); peripheral nervous system disease (Disease Ontology:DOID:574); hepatocellular carcinoma (Disease Ontology:DOID:684); hematopoietic system disease (Disease Ontology:DOID:74); peritonitis (Disease Ontology:DOID:8283); lung disease (Disease Ontology:DOID:850); prostate carcinoma in situ (Disease Ontology:DOID:8634); myeloid leukemia (Disease Ontology:DOID:8692); psoriasis (Disease Ontology:DOID:8893); acute myeloid leukemia (Disease Ontology:DOID:9119); type 2 diabetes mellitus (Disease Ontology:DOID:9352); meningitis (Disease Ontology:DOID:9471); multiple myeloma (Disease Ontology:DOID:9538); senile cataract (Disease Ontology:DOID:9669); pulmonary emphysema (Disease Ontology:DOID:9675); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); obesity (Disease Ontology:DOID:9970); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:2950); (R-HSA-156590); (R-HSA-3299685); (R-HSA-6798695); (R-HSA-9753281)", "pathway_count": 5, "publication_count": 334, "publication_id_list": "10029572;10329152;10334644;10441116;10514471;10521424;10587441;10656833;10741631;10783391;10833429;10919671;10982;11018045;11059750;11097238;11139407;11237011;11327815;11507097;11518528;11714888;11886899;11904223;11912930;12010858;12042665;12211029;12446202;12473676;12540498;12627223;12665801;12829378;14742434;15044467;15046979;15064408;1522586;15280035;15317809;1540159;15596429;15604283;15642394;1567427;15896461;15927447;16081649;16298388;16401067;16548513;16615992;1668270;16696573;16750198;16880213;17067754;17275676;17404745;17519234;17627974;1763037;17696741;17707404;17924658;18061666;18085999;18199464;18232020;18326615;18357469;18358825;18540691;18569592;18590468;18703498;18797455;18936159;19219623;19247656;19254954;19256768;19269317;19379515;19396894;19463;19469640;19542232;19568750;19608861;19615748;19643601;19664994;19808963;19842618;19921428;1999334;20070187;20083122;20085333;20190787;20305658;20367259;20526737;20690882;2071038;20809359;20827430;20843134;20966642;21046276;21106529;21128213;21215271;21385867;21393238;21618522;21666065;21668448;21711092;21712391;21740066;21967640;22216261;22223895;22299025;22339038;22349737;22406294;22493009;22502660;22522127;22552346;22734843;22797821;22869735;22910329;22938488;22960333;23079710;23144854;23152058;23162467;23164639;23167352;23186163;2327795;23301498;23454490;23455484;23456768;23483487;23494181;23504587;23555621;23568549;23650620;23682772;23765758;23783831;23811488;23843029;23975366;23977100;24566690;2466554;24714562;25035652;25047527;25124586;25280543;25375048;25419352;2542132;25436036;25502872;25505266;25576301;2573352;25785008;26028097;26044055;26049587;26067475;26374642;26427666;26680864;26823821;26823947;26992070;27090790;27154175;27323109;27366093;27600516;27726376;27846572;27893789;28033105;28063628;28176509;28198496;28218747;28228285;28452985;28467828;28871256;28904123;28947711;29242379;29314611;29317506;29393594;29557506;29632046;29632711;29786170;29789417;30192525;30315122;30397120;30429286;30573663;31020640;31217245;31611695;31844290;31848261;3196325;31998317;32119511;32157095;32161166;32350084;32373127;32387766;32472168;32488085;32502341;32938616;32983136;33043033;33091337;33141586;33214551;33298915;33392160;33592498;3372534;33912179;33936100;3395118;3395122;33968037;33981976;34019948;34078123;34171305;34357683;34509645;34561969;3457020;34725712;34932366;35051231;35132862;35138101;35154160;35251023;3532102;35561310;35580925;36010968;3619451;36215666;36284347;3664469;3693360;37217939;3770744;37938771;38016474;38493315;3864155;38665916;38789086;39063019;39068558;39111192;3979555;4768551;5389100;60;6286671;6950087;6961438;7021796;70646;7172448;7469630;7487923;807573;8182750;8203914;8331657;8379940;8428933;8431482;8433974;8452552;8663465;8692836;8703034;8812420;8813074;9012673;9024171;9080;9084911;9092542;9150948;9245401;9278457;9295278;9351803;9369223;9398518;9485454;9551553;9639555;9726962;9839448;9923614", "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]; Catalyzes conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles (PubMed:1540159, PubMed:1567427, PubMed:8433974). Involved in the formation of glutathione conjugates of both prostaglandin A2 (PGA2) and prostaglandin J2 (PGJ2) (PubMed:9084911). Participates in the formation of novel hepoxilin regioisomers (PubMed:21046276). Acts as a negative regulator of ferroptosis by mediating glutathione conjugation and detoxification of 4-hydroxynonenal (4-HNE) reactive aldehyde (PubMed:38016474). Negatively regulates CDK5 activity via p25/p35 translocation to prevent neurodegeneration (PubMed:21668448)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Diagnostic Value of GSTP1, RASSF1, AND RASSF2 Methylation in Serum of Prostate Cancer Patients. Publication Status: Online-Only, [RefSeq, PubMed]; GSTP1-A313G genetic polymorphism and the risk of preeclampsia in pregnant women: A study in the northern population of Iran., [RefSeq, 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]; Glutathione S-transferases (GSTs) are a family of enzymes that play an important role in detoxification by catalyzing the conjugation of many hydrophobic and electrophilic compounds with reduced glutathione. Based on their biochemical, immunologic, and structural properties, the soluble GSTs are categorized into 4 main classes: alpha, mu, pi, and theta. This GST family member is a polymorphic gene encoding active, functionally different GSTP1 variant proteins that are thought to function in xenobiotic metabolism and play a role in susceptibility to cancer, and other diseases. [provided by RefSeq, Jul 2008]., [RefSeq]; Subcellular distribution and Nrf2/Keap1-interacting properties of Glutathione S-transferase P in hepatocellular carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 8, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 70, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O00460;Q15690;Q5TZY3", "ec_number_list": [ { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "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": "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": "1.1.1.42", "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": "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": "2.7.10.2", "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": "3.4.22.27", "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": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "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": "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": "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": "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": "4.4.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:4.4.1.20", "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": "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": "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:0004364 glutathione transferase activity;GO:0005504 fatty acid binding;GO:0015643 toxic substance binding;GO:0035730 S-nitrosoglutathione binding;GO:0035731 dinitrosyl-iron complex binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0032869 cellular response to insulin stimulus;GO:0032930 positive regulation of superoxide anion generation;GO:0043066 negative regulation of apoptotic process;GO:0045471 response to ethanol", "synthesized_glycan_count": 0, "hit_score": 33.7, "record_id": "P09211-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AE4-1", "uniprot_id": [ { "id": "FUBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AE4", "type": "external" } ], "mass": 67560.0, "length": 644, "protein_name": "Far upstream element-binding protein 1", "gene_name": "FUBP1", "organism": "Human", "refseq_name": "far upstream element-binding protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001290362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290362", "type": "external" } ], "gene_names_uniprotkb": "FUBP1", "gene_names_refseq": "FBP; FUBP1; FUBP; hDH V", "protein_names_uniprotkb": "Far upstream element-binding protein 1; DNA helicase V; FBP; FUSE-binding protein 1; hDH V", "protein_names_refseq": "DNA helicase V; FUSE binding protein 1; epididymis secretory sperm binding protein; far upstream element (FUSE) binding protein 1; far upstream element-binding protein 1 isoform 1", "tax_id": 9606, "disease": "tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); colorectal carcinoma (Disease Ontology:DOID:0080199); traumatic brain injury (Disease Ontology:DOID:0081292); stomach cancer (Disease Ontology:DOID:10534); sciatic neuropathy (Disease Ontology:DOID:11446); breast cancer (Disease Ontology:DOID:1612); ovary epithelial cancer (Disease Ontology:DOID:2152); malignant astrocytoma (Disease Ontology:DOID:3069); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung adenocarcinoma (Disease Ontology:DOID:3910); liver cirrhosis (Disease Ontology:DOID:5082); hepatocellular carcinoma (Disease Ontology:DOID:684); nasopharynx carcinoma (Disease Ontology:DOID:9261)", "pathway": " (hsa:8880)", "pathway_count": 1, "publication_count": 98, "publication_id_list": "10882074;11222755;11237011;11875576;12176931;12819782;15592455;16964243;17081983;18452278;18491316;18669648;19413330;19415658;19651622;19664995;19690332;20068230;20068231;20305658;21406692;21654843;22926519;23186163;23481700;23576270;24129315;25576301;25645385;26154972;26375851;26992070;27397612;27600516;27846572;28228285;28514659;28832583;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29769354;29786170;30192525;30315122;30429286;30484775;30524438;31217245;31492838;31844290;32119511;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33214551;33298915;33465208;33592498;33691108;33717175;33912179;33968037;34019948;34087483;34171305;34229054;34509645;34561969;34725712;34846842;34932366;35051231;35254053;35318648;35513511;35546072;35580925;36010968;36086966;36215666;36241641;36581221;37506698;37932299;37938771;38665916;40596516;8125259", "class_list": "", "function": "Biochemical features of FBP1 Review article, [RefSeq, PubMed]; FUBP1 is a general splicing factor facilitating 3' splice site recognition and splicing of long introns., [RefSeq, PubMed]; FUBP1 promotes the proliferation of lung squamous carcinoma cells and regulates tumor immunity through PD-L1. Publication Status: Online-Only, [RefSeq, PubMed]; Far upstream element -binding protein 1 (FUBP1) participates in the malignant process and glycolysis of colon cancer cells by combining with c-Myc., [RefSeq, PubMed]; Integration of risk variants from GWAS with SARS-CoV-2 RNA interactome prioritizes FUBP1 and RAB2A as risk genes for COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates MYC expression by binding to a single-stranded far-upstream element (FUSE) upstream of the MYC promoter. May act both as activator and repressor of transcription., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a single stranded DNA-binding protein that binds to multiple DNA elements, including the far upstream element (FUSE) located upstream of c-myc. Binding to FUSE occurs on the non-coding strand, and is important to the regulation of c-myc in undifferentiated cells. This protein contains three domains, an amphipathic helix N-terminal domain, a DNA-binding central domain, and a C-terminal transactivation domain that contains three tyrosine-rich motifs. The N-terminal domain is thought to repress the activity of the C-terminal domain. This protein is also thought to bind RNA, and contains 3'-5' helicase activity with in vitro activity on both DNA-DNA and RNA-RNA duplexes. Aberrant expression of this gene has been found in malignant tissues, and this gene is important to neural system and lung development. Binding of this protein to viral RNA is thought to play a role in several viral diseases, including hepatitis C and hand, foot and mouth disease. Alternative splicing results in multiple transcript variants. [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": 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": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 15, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q12828", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003730 mRNA 3'-UTR binding;GO:0003697 single-stranded DNA binding;GO:0003677 DNA binding;GO:0003676 nucleic acid 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:0010628 positive regulation of gene expression;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q96AE4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P34897-1", "uniprot_id": [ { "id": "GLYM_HUMAN", "url": "https://www.uniprot.org/uniprot/P34897", "type": "external" } ], "mass": 55993.0, "length": 504, "protein_name": "Serine hydroxymethyltransferase, mitochondrial", "gene_name": "SHMT2", "organism": "Human", "refseq_name": "serine hydroxymethyltransferase, mitochondrial isoform 2 precursor", "refseq_ac": [ { "id": "NP_001159828", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159828", "type": "external" } ], "gene_names_uniprotkb": "SHMT2", "gene_names_refseq": "GLYA; HEL-S-51e; NEDCASB; SHMT2; SHMT; mSHMT", "protein_names_uniprotkb": "Serine hydroxymethyltransferase, mitochondrial; 2.1.2.1; Glycine hydroxymethyltransferase; SHMT; Serine methylase", "protein_names_refseq": "GLY A+; epididymis secretory sperm binding protein Li 51e; glycine auxotroph A, human complement for hamster; glycine hydroxymethyltransferase; mitochondrial serine hydroxymethyltransferase; serine aldolase; serine hydroxymethylase; serine hydroxymethyltransferase 2 (mitochondrial); serine hydroxymethyltransferase, mitochondrial isoform 2 precursor; serine methylase; threonine aldolase", "tax_id": 9606, "disease": "neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (Disease Ontology:DOID:0070543); alcohol use disorder (Disease Ontology:DOID:1574); cancer (Disease Ontology:DOID:162); schizophrenia (Disease Ontology:DOID:5419); amino acid metabolic disorder (Disease Ontology:DOID:9252)", "pathway": " (hsa:6472); (R-HSA-196757); (R-HSA-9013408); (R-HSA-9837999)", "pathway_count": 4, "publication_count": 187, "publication_id_list": "10091649;10347183;10523675;10652265;10828359;10978331;11237011;11689693;11864571;11923310;11967128;12177196;12198491;12376551;12937168;14623864;15133129;15522782;15870080;16115876;16171773;16339170;17027967;17101804;17129779;17297443;17308042;17579211;17962486;18063578;18991276;19424049;19581409;19608861;19713215;19841671;19948730;20068231;20498374;20679435;21163947;21238436;21621533;21876188;22262461;2248959;22710082;22734669;23186163;23201127;23255595;23409799;23931759;23934049;24075985;24315374;24366607;24520911;24659802;24714562;24715725;24733394;25418920;25576301;25619277;25645385;25810538;25880248;25892735;25902260;2605182;26154972;26504172;26768311;26811146;26923599;26992070;27481945;27496948;27642048;27846572;27920218;28196833;28218747;28377575;28396416;28832583;28834231;28904123;29180469;29242379;29301859;29331515;29364879;29437277;29452640;29493099;29557506;29932645;30120231;30315122;30444036;30484775;3053686;30833945;31217245;31222486;31327635;31695197;31844290;31848261;31871319;31937595;31998317;32119511;32157095;32350084;32357974;32387766;32423175;32488085;32502341;32658475;32897882;32938616;32983136;33015733;33053560;33141586;33163492;33214551;33257573;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;34561969;34704252;34725712;34932366;34943861;35051231;35083852;35318648;35561310;35580925;35870450;36010968;36215666;36241641;36284347;36629048;37938771;3801490;38175377;38188143;38460155;38665916;3871768;4066659;40914422;6323448;7476457;7623837;7726158;7852378;8218174;8505317;8522195;8662720;8939998;8999870;9573390;9753690;9822605", "class_list": "", "function": "Catalyzes the cleavage of serine to glycine accompanied with the production of 5,10-methylenetetrahydrofolate, an essential intermediate for purine biosynthesis (PubMed:24075985, PubMed:25619277, PubMed:29364879, PubMed:33015733). Serine provides the major source of folate one-carbon in cells by catalyzing the transfer of one carbon from serine to tetrahydrofolate (PubMed:25619277). Contributes to the de novo mitochondrial thymidylate biosynthesis pathway via its role in glycine and tetrahydrofolate metabolism: thymidylate biosynthesis is required to prevent uracil accumulation in mtDNA (PubMed:21876188). Also required for mitochondrial translation by producing 5,10-methylenetetrahydrofolate; 5,10-methylenetetrahydrofolate providing methyl donors to produce the taurinomethyluridine base at the wobble position of some mitochondrial tRNAs (PubMed:29364879, PubMed:29452640). Associates with mitochondrial DNA (PubMed:18063578). In addition to its role in mitochondria, also plays a role in the deubiquitination of target proteins as component of the BRISC complex: required for IFNAR1 deubiquitination by the BRISC complex (PubMed:24075985)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Hypoxia-induced SHMT2 protein lactylation facilitates glycolysis and stemness of esophageal cancer cells., [RefSeq, PubMed]; Phosphorylated SHMT2 Regulates Oncogenesis Through m[6]A Modification in Lung Adenocarcinoma., [RefSeq, PubMed]; The expression and clinical significance of serine hydroxymethyltransferase2 in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the mitochondrial form of a pyridoxal phosphate-dependent enzyme that catalyzes the reversible reaction of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. The encoded product is primarily responsible for glycine synthesis. The activity of the encoded protein has been suggested to be the primary source of intracellular glycine. The gene which encodes the cytosolic form of this enzyme is located on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]., [RefSeq]; This paper compares the mitochondrial and cytoplasmic forms of this enzyme and suggests that the two genes are a result of a single gene duplication., [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": 17, "reported_glycation": 0, "reported_snv": 11, "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": "B7Z9F1;E7EQ19;E7EU43;O00740;Q8N1A5", "ec_number_list": [ { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "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": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.1.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.2.1", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "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": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "1.1.98.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.98.-", "type": "external" } ], "go_molecular_function": "GO:0003682 chromatin binding;GO:0030170 pyridoxal phosphate binding;GO:0042802 identical protein binding;GO:0016597 amino acid binding;GO:0004372 glycine hydroxymethyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0051262 protein tetramerization;GO:0051289 protein homotetramerization;GO:0070536 protein K63-linked deubiquitination;GO:1903715 regulation of aerobic respiration", "synthesized_glycan_count": 0, "hit_score": 19.0, "record_id": "P34897-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0M2-1", "uniprot_id": [ { "id": "AKA7G_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0M2", "type": "external" } ], "mass": 39518.0, "length": 348, "protein_name": "A-kinase anchor protein 7 isoform gamma", "gene_name": "AKAP7", "organism": "Human", "refseq_name": "A-kinase anchoring protein 7 isoform gamma", "refseq_ac": [ { "id": "NP_057461", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057461", "type": "external" } ], "gene_names_uniprotkb": "AKAP7; AKAP15; AKAP18", "gene_names_refseq": "AKAP15; AKAP18; AKAP7", "protein_names_uniprotkb": "A-kinase anchor protein 7 isoform gamma; A-kinase anchor protein 18 kDa; AKAP 18; AKAP-7 isoform gamma; PRKA7 isoform gamma; Protein kinase A-anchoring protein 7 isoform gamma", "protein_names_refseq": "A kinase (PRKA) anchor protein 7; A-kinase anchor protein 18 kDa; A-kinase anchor protein 9 kDa; A-kinase anchoring protein 7 isoform gamma; AKAP 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:9465)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10613906;11237011;12804576;17244820;24302730;25892735;27397612;27487922;28218747;28446746;28904123;29557506;31154438;31844290;32387766;32938616;35051231;38253038;9545239", "class_list": "", "function": "AKAP7 expression levels may have clinical utility as a prognostic biomarker for post-stroke blood brain complications Publication Status: Online-Only, [RefSeq, PubMed]; AKAP7gamma is the first nuclear AKAP to bind RI and may be responsible for positioning PKA via RI and/or RII to regulate PKA-mediated gene transcription in both somatic cells and oocytes, [RefSeq, PubMed]; Malonate in the nucleotide-binding site traps human AKAP18-gamma in a novel conformational state., [RefSeq, PubMed]; PKC tethered to AKAP7alpha was less susceptible to inhibition from the ATP-competitive inhibitor Go6976 and the substrate-competitive inhibitor PKC 20-28, but not the activation-competitive inhibitor calphostin C., [RefSeq, PubMed]; Probably targets cAMP-dependent protein kinase (PKA) to the cellular membrane or cytoskeletal structures. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free cytoplasmic form may negatively regulate ENaC channel feedback inhibition by intracellular sodium., [UniProtKB, PubMed, PubMed]; Targets the cAMP-dependent protein kinase (PKA) to the plasma membrane, and permits functional coupling to the L-type calcium channel. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free cytoplasmic form may negatively regulate ENaC channel feedback inhibition by intracellular sodium., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 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": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 18, "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": "B4DUC3;Q9HCZ8", "ec_number_list": [], "go_molecular_function": "GO:0051018 protein kinase A binding;GO:0019901 protein kinase binding;GO:0000166 nucleotide binding;GO:0034237 protein kinase A regulatory subunit binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016324 apical plasma membrane;GO:0016328 lateral plasma membrane;GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0035556 intracellular signal transduction;GO:0071320 cellular response to cAMP;GO:0001508 action potential;GO:0060306 regulation of membrane repolarization", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9P0M2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28838-1", "uniprot_id": [ { "id": "AMPL_HUMAN", "url": "https://www.uniprot.org/uniprot/P28838", "type": "external" } ], "mass": 56166.0, "length": 519, "protein_name": "Cytosol aminopeptidase", "gene_name": "LAP3", "organism": "Human", "refseq_name": "cytosol aminopeptidase", "refseq_ac": [ { "id": "NP_056991", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056991", "type": "external" } ], "gene_names_uniprotkb": "LAP3; LAPEP; PEPS", "gene_names_refseq": "HEL-S-106; LAP3; LAPEP; LAP; PEPS", "protein_names_uniprotkb": "Cytosol aminopeptidase; 3.4.11.1; 3.4.11.5; 3.4.13.23; Cysteinylglycine-S-conjugate dipeptidase; LAP-3; Leucine aminopeptidase 3; Leucyl aminopeptidase; Peptidase S; Proline aminopeptidase; Prolyl aminopeptidase", "protein_names_refseq": "cysteinylglycine-S-conjugate dipeptidase; cytosol aminopeptidase; epididymis secretory protein Li 106; leucyl aminopeptidase; peptidase S; proline aminopeptidase; prolyl aminopeptidase", "tax_id": 9606, "disease": "", "pathway": " (hsa:51056)", "pathway_count": 1, "publication_count": 84, "publication_id_list": "11237011;1908238;19608861;20068231;21654843;23481700;24275569;24714562;25418920;25502872;25576301;25802875;25880248;26728094;26768311;26992070;27058226;27452731;27600516;27726376;27862975;27920218;28218747;28228285;28467828;28510447;28514659;28832583;28904123;29093164;29242379;29314611;29331515;29437277;29493099;29508533;29557506;29632046;29786170;30192525;30315122;30410026;30429286;30779550;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32350084;32357974;32897882;32938616;32983136;33298915;33501841;33592498;33717175;33893083;33912179;33936100;33968037;33981976;34078123;34087483;34229054;34357683;34561969;34725712;34932366;35051231;35138101;35154160;35251023;35404840;35580925;36010968;36241641;36284347;38665916;40914422;40930100", "class_list": "", "function": "Cholesterol-induced leucine aminopeptidase 3 (LAP3) upregulation inhibits cell autophagy in pathogenesis of NAFLD., [RefSeq, PubMed]; Cytosolic metallopeptidase that catalyzes the removal of unsubstituted N-terminal hydrophobic amino acids from various peptides. The presence of Zn(2+) ions is essential for the peptidase activity, and the association with other cofactors can modulate the substrate spectificity of the enzyme. For instance, in the presence of Mn(2+), it displays a specific Cys-Gly hydrolyzing activity of Cys-Gly-S-conjugates. Involved in the metabolism of glutathione and in the degradation of glutathione S-conjugates, which may play a role in the control of the cell redox status., [UniProtKB, UniProtKB]; Proteomic Analysis of Hepatocellular Carcinoma Tissues With Encapsulation Shows Up-regulation of Leucine Aminopeptidase 3 and Phosphoenolpyruvate Carboxykinase 2., [RefSeq, PubMed]; Urinary leucine aminopeptidase 3 in population environmentally exposed to airborne arsenic., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B3KMQ3;Q6IAM6;Q6P0L6;Q9UQE3", "ec_number_list": [ { "id": "3.4.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.1", "type": "external" }, { "id": "3.4.11.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.5", "type": "external" }, { "id": "3.4.13.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.13.23", "type": "external" }, { "id": "3.4.13.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.13.18", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" } ], "go_molecular_function": "GO:0030145 manganese ion binding;GO:0004180 carboxypeptidase activity;GO:0004177 aminopeptidase activity;GO:0008235 metalloexopeptidase activity;GO:0070006 metalloaminopeptidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005925 focal adhesion;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "P28838-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92667-1", "uniprot_id": [ { "id": "AKAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92667", "type": "external" } ], "mass": 97342.0, "length": 903, "protein_name": "A-kinase anchor protein 1, mitochondrial", "gene_name": "AKAP1", "organism": "Human", "refseq_name": "A-kinase anchor protein 1, mitochondrial precursor", "refseq_ac": [ { "id": "NP_001229831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229831", "type": "external" } ], "gene_names_uniprotkb": "AKAP1; AKAP149; PRKA1", "gene_names_refseq": "AKAP121; AKAP149; AKAP1; AKAP84; AKAP; D-AKAP1; PPP1R43; PRKA1; SAKAP84; TDRD17", "protein_names_uniprotkb": "A-kinase anchor protein 1, mitochondrial; A-kinase anchor protein 149 kDa; AKAP 149; D-AKAP-1; Dual specificity A-kinase-anchoring protein 1; PRKA1; Protein kinase A-anchoring protein 1; S-AKAP84; Spermatid A-kinase anchor protein 84", "protein_names_refseq": "A kinase (PRKA) anchor protein 1; A-kinase anchor protein 1, mitochondrial precursor; A-kinase anchor protein 1, mitochondrial; A-kinase anchor protein 149 kDa; AKAP 149; D-AKAP-1; dual-specificity A-kinase anchoring protein 1; protein kinase A anchoring protein 1; protein kinase A1; protein phosphatase 1, regulatory subunit 43; spermatid A-kinase anchor protein 84; testicular secretory protein Li 5; tudor domain containing 17", "tax_id": 9606, "disease": "brain ischemia (Disease Ontology:DOID:2316)", "pathway": " (hsa:8165); (R-HSA-8949215); (R-HSA-983231)", "pathway_count": 3, "publication_count": 151, "publication_id_list": "10.1101/2023.09.13.557529;11042108;11062261;11237011;11242053;11744692;11751636;11895428;11950885;12032298;12134158;12223483;12427746;12438411;14759258;15020713;15247287;15302935;15710388;15904662;16054028;1630448;17027967;17178908;17196961;18077418;18452278;18628306;18669648;19007248;19293402;19413330;19415658;19651622;19664995;19690332;19797662;20018762;20068231;20166139;20530532;20627800;20693986;21406692;21685886;21685888;21720385;218813;23186163;23409044;23481700;23716663;23755363;23900286;24162235;24231807;24275569;24344246;24503055;24560927;24715725;24898248;25077561;25171321;25505266;25565209;25576301;25645385;25753332;25802875;26375851;26845023;26976564;26992070;27099988;27669901;28218747;28228285;28446606;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29789417;30315122;30379171;30429286;30779550;30833945;31092671;31154438;31522117;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33912179;33968037;33981976;34087483;3409321;34171305;34185709;34357683;34509645;34561969;34932366;35051231;35083852;35251023;35318648;35580925;36010968;36284347;37175819;37296658;37938771;38253038;38286648;39534244;7399049;7499250;8662638;8769136;8816476;9065479;9230307;9326583;9331217;9422515;9927674", "class_list": "", "function": "AKAP1 Regulates Mitochondrial Dynamics during the Fatty-Acid-Promoted Maturation of Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes as Indicated by Proteomics Sequencing. Publication Status: Online-Only, [RefSeq, PubMed]; AKAP1 in Renal Patients with AHF to Reduce Ferroptosis of Cardiomyocyte. Publication Status: Online-Only, [RefSeq, PubMed]; Binds to type I and II regulatory subunits of protein kinase A and anchors them to the cytoplasmic face of the mitochondrial outer membrane (By similarity). Involved in mitochondrial-mediated antiviral innate immunity (PubMed:31522117). Promotes translocation of NDUFS1 into mitochondria to regulate mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) activity (By similarity)., [UniProtKB, UniProtKB, PubMed]; Role of A-Kinase Anchoring Protein 1 in Retinal Ganglion Cells: Neurodegeneration and Neuroprotection. Review article Publication Status: Online-Only, [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 type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [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": 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": 18, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "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": "A8K8Q1;D3DTZ0;Q13320;Q9BW14", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0034237 protein kinase A regulatory subunit binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:0016020 membrane;GO:0005737 cytoplasm", "go_biological_process": "GO:0006915 apoptotic process;GO:0140374 antiviral innate immune response", "synthesized_glycan_count": 0, "hit_score": 15.7, "record_id": "Q92667-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NW4-1", "uniprot_id": [ { "id": "ANR27_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NW4", "type": "external" } ], "mass": 116984.0, "length": 1050, "protein_name": "Ankyrin repeat domain-containing protein 27", "gene_name": "ANKRD27", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 27", "refseq_ac": [ { "id": "NP_115515", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115515", "type": "external" } ], "gene_names_uniprotkb": "ANKRD27; PP12899", "gene_names_refseq": "ANKRD27; PP12899; VARP", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 27; VPS9 domain-containing protein", "protein_names_refseq": "VPS9 domain-containing protein; VPS9-ankyrin-repeat protein; Vps9 domain and ankyrin-repeat-containing protein; ankyrin repeat domain 27 (VPS9 domain); ankyrin repeat domain-containing protein 27", "tax_id": 9606, "disease": "eosinophilic esophagitis (Disease Ontology:DOID:13922)", "pathway": " (hsa:84079); (R-HSA-8876198)", "pathway_count": 2, "publication_count": 253, "publication_id_list": "10818110;10990452;11038176;11179213;11230166;11237011;11516400;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15498874;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16373702;16410077;16525024;16525121;16571673;16641372;16754960;16880209;16950109;17043139;17132146;17189207;17208202;17239822;17287728;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18094055;18220336;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;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21808068;21951725;22013193;22065758;22072793;22171327;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22705394;22762500;22908308;22983554;23084991;23091056;23104059;23147242;23176487;23176493;23186163;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23645161;23678941;23684622;23713133;23839779;24296415;24644286;24694596;24715725;24719330;24856514;24891604;24917561;24967941;25074980;25341920;25343031;25407941;25418920;25472813;25576301;25645385;25648148;25713415;25925668;26055712;26154972;26177209;26245486;26434594;26538022;26811146;26925400;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27600516;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29632046;29786170;30315122;30410026;30429286;30524438;30779550;30833945;31217245;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33024112;33141586;33298915;33392160;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34509645;34932366;35051231;35561310;35580925;36010968;36241641;36284347;37217939;7688123;7911226;8144603;8408203;8522602;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "Eosinophilic esophagitis was associate with increased expression of ANKRD27. Publication Status: Online-Only, [RefSeq, PubMed]; May be a guanine exchange factor (GEF) for Rab21, Rab32 and Rab38 and regulate endosome dynamics (PubMed:16525121, PubMed:18477474). May regulate the participation of VAMP7 in membrane fusion events; in vitro inhibits VAMP7-mediated SNARE complex formation by trapping VAMP7 in a closed, fusogenically inactive conformation (PubMed:23104059). Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with Rab32, Rab38 and VAMP7 (By similarity). Involved in the regulation of neurite growth; the function seems to require its GEF activity, probably towards Rab21, and VAMP7 but not Rab32/38 (By similarity). Proposed to be involved in Golgi sorting of VAMP7 and transport of VAMP7 vesicles to the cell surface; the function seems to implicate kinesin heavy chain isoform 5 proteins, GOLGA4, RAB21 and MACF1 (PubMed:22705394). Required for the colocalization of VAMP7 and Rab21, probably on TGN sites (PubMed:19745841). Involved in GLUT1 endosome-to-plasma membrane trafficking; the function is dependent of association with VPS29 (PubMed:24856514). Regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Mechanism and evolution of the Zn-fingernail required for interaction of VARP with VPS29. Publication Status: Online-Only, [RefSeq, PubMed]; VARP regulates endosomal trafficking and and retromer-mediated endosome-to-plasma membrane sorting of transmembrane proteins by binding to rab GTP-Binding Proteins and R-SNARE VAMP7 [review]. Review article, [RefSeq, PubMed]; Varp physically interacts with Rab38, and preferentially binds to the active GTP-bound form of Rab38 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 12, "reported_glycation": 0, "reported_snv": 9, "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": "Q71MF5;Q86UC3;Q8ND80;Q9H0I4", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding;GO:0000149 SNARE binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005764 lysosome", "go_biological_process": "GO:0010976 positive regulation of neuron projection development;GO:0015031 protein transport;GO:0048812 neuron projection morphogenesis;GO:0045022 early endosome to late endosome transport;GO:0035646 endosome to melanosome transport", "synthesized_glycan_count": 0, "hit_score": 25.6, "record_id": "Q96NW4-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13023-1", "uniprot_id": [ { "id": "AKAP6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13023", "type": "external" } ], "mass": 256720.0, "length": 2319, "protein_name": "A-kinase anchor protein 6", "gene_name": "AKAP6", "organism": "Human", "refseq_name": "A-kinase anchor protein 6", "refseq_ac": [ { "id": "NP_004265", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004265", "type": "external" } ], "gene_names_uniprotkb": "AKAP6; AKAP100; KIAA0311", "gene_names_refseq": "ADAP100; ADAP6; AKAP100; AKAP6; PRKA6; mAKAP", "protein_names_uniprotkb": "A-kinase anchor protein 6; A-kinase anchor protein 100 kDa; AKAP 100; AKAP-6; PRKA6; Protein kinase A-anchoring protein 6; mAKAP", "protein_names_refseq": "A kinase (PRKA) anchor protein 6; A-kinase anchor protein 100 kDa; A-kinase anchor protein 6; AKAP 100; AKAP-6; protein kinase A anchoring protein 6", "tax_id": 9606, "disease": "ovary epithelial cancer (Disease Ontology:DOID:2152); anorexia nervosa (Disease Ontology:DOID:8689)", "pathway": " (hsa:9472)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "10413680;11237011;16959974;17923693;18669648;23481700;24715725;25645385;25880248;26375851;26563778;26768311;27600516;28067462;28411811;29242379;29351928;29557506;29600899;29979793;30192525;30379171;30429286;31154438;31492838;31759389;31844290;32157095;32938616;32983136;33141586;33298915;33592498;33968037;34087483;34171305;34561969;34932366;35051231;36241641;37217939;40136647;7721854", "class_list": "", "function": "AKAP6 SNPs found in human patients with cardiovascular diseases significantly affect the cAMP/PKA signaling pathway. Erratum:[Am J Physiol Heart Circ Physiol. 2019 Feb 1;316(2):H432. doi: 10.1152/ajpheart.zh4-2504-corr.2019. PMID: 30715904], [RefSeq, PubMed]; Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the nuclear membrane or sarcoplasmic reticulum. May act as an adapter for assembling multiprotein complexes., [UniProtKB, UniProtKB, UniProtKB]; Findings indicate a interplay between A-kinase anchoring protein 6 (AKAP6) and myogenin. Publication Status: Online-Only, [RefSeq, PubMed]; Inherited variants in ARHGEF10L and AKAP6, with potential transcriptional regulatory function and association with Epithelial ovarian cancer risk, warrant investigation in independent Epithelial ovarian cancer study populations. Publication Status: Online-Only, [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 highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]., [RefSeq]; This study provided evidence for the impact of AKAP6 polymorphisms on susceptibility and prognosis of glioma, suggesting AKAP6 variants might have potential roles in the etiology of glioma. Publication Status: Online-Only, [RefSeq, PubMed]; Two single nucleotide polymorphisms (SNPs), MIR211-rs10457441 and AKAP6-rs17522122 were genotyped in 1570 non-demented older Australians of European ancestry. AKAP6-rs17522122*T was associated with worse baseline performance in episodic memory, working memory, vocabulary and perceptual speed, but it was not associated with cognitive change in any domain., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "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": 96, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A7E242;A7E2D4;O15028", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0044325 transmembrane transporter binding;GO:0008179 adenylate cyclase binding;GO:0034237 protein kinase A regulatory subunit binding;GO:0051018 protein kinase A binding", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0031965 nuclear membrane;GO:0048471 perinuclear region of cytoplasm;GO:0014704 intercalated disc", "go_biological_process": "GO:1901897 regulation of relaxation of cardiac muscle;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0030307 positive regulation of cell growth;GO:0071320 cellular response to cAMP;GO:0001508 action potential", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q13023-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75569-1", "uniprot_id": [ { "id": "PRKRA_HUMAN", "url": "https://www.uniprot.org/uniprot/O75569", "type": "external" } ], "mass": 34404.0, "length": 313, "protein_name": "Interferon-inducible double-stranded RNA-dependent protein kinase activator A", "gene_name": "PRKRA", "organism": "Human", "refseq_name": "interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform 2", "refseq_ac": [ { "id": "NP_001132989", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132989", "type": "external" } ], "gene_names_uniprotkb": "PRKRA; HSD-14; HSD14; PACT; RAX", "gene_names_refseq": "DYT16; HSD14; PACT; PRKRA; RAX", "protein_names_uniprotkb": "Interferon-inducible double-stranded RNA-dependent protein kinase activator A; PKR-associated protein X; PKR-associating protein X; Protein activator of the interferon-induced protein kinase; Protein kinase, interferon-inducible double-stranded RNA-dependent activator", "protein_names_refseq": "PKR-associated protein X; PKR-associating protein X; interferon-inducible double-stranded RNA-dependent protein kinase activator A isoform 2; interferon-inducible double-stranded RNA-dependent protein kinase activator A; protein activator of the interferon-induced protein kinase; protein kinase, interferon-inducible double-stranded RNA-dependent activator", "tax_id": 9606, "disease": "dystonia 16 (Disease Ontology:DOID:0090048)", "pathway": " (hsa:8575); (R-HSA-203927); (R-HSA-426486); (R-HSA-9833482)", "pathway_count": 4, "publication_count": 236, "publication_id_list": "10082513;10336432;10348343;10400669;10620360;10626894;10648614;10848580;10866685;11096080;11134010;11152499;11156368;11201747;11230166;11237011;11238103;11238927;11278865;11313968;11337501;11350938;11438540;11452083;11500375;11781817;11909525;11939789;11985496;12231563;12397061;12411504;12411505;12882984;1373135;14508493;14585331;14631048;14681208;14730017;15229216;15284456;15299030;15364901;15372072;15525708;15531877;15574589;15737233;15752359;15907845;15973356;16142218;16179258;16179259;16271386;16357216;16373505;16424907;16431927;16600570;16717090;1695551;16982605;17057362;17079286;17081983;17099701;17196820;17287340;17452327;17531811;17932509;18096616;18178619;18212344;18243799;18420150;18421256;18669648;18728384;18767875;18782830;18835251;18842624;18957415;19229320;19401777;19416861;19651622;19710021;19733181;19804757;19838063;19966796;20068231;20166139;20184375;20230923;20395957;20519500;20685959;20972213;21072047;21123651;21228243;21294215;21406692;21518807;21526770;21552258;21636578;21726814;21937648;21978664;21994559;22106413;22163034;22214662;22473766;2247437;22844086;22986343;23063121;23063653;23084476;23186163;23229543;23251028;23301498;23481700;23511973;23531496;23624860;23658827;23661684;23732991;23870315;24347309;24366607;24623135;24659800;24753571;25326327;25568082;25653431;25793518;25848059;26375851;26432638;26446704;26488609;26716879;26817845;27208315;27269119;27423063;27920218;27974558;28069888;28167698;28281686;28510447;28765891;28904123;29084250;29170442;29175459;29231267;29348664;29394925;29395325;29437277;29440070;29501855;29557506;29632046;29731959;29786170;30174290;30484775;30770398;30833945;31031002;31217245;31530632;31844290;31848261;32093270;32157095;32350084;32387766;32716602;32801355;32897882;32938616;32983136;33298915;33592498;33808629;33911136;33912179;34019948;34171305;34174402;34974812;35051231;35685460;35947956;35974143;36712380;37127961;37264691;38665916;38793607;7491766;7515177;7545299;7565688;7693978;7737357;7903669;8576172;8576179;8661426;8810342;8910500;9034343;9079663;9442054;9521856;9528799;9687506;9737981;9819388;9920933", "class_list": "", "function": "Activates EIF2AK2/PKR in the absence of double-stranded RNA (dsRNA), leading to phosphorylation of EIF2S1/EFI2-alpha and inhibition of translation and induction of apoptosis. Required for siRNA production by DICER1 and for subsequent siRNA-mediated post-transcriptional gene silencing. Does not seem to be required for processing of pre-miRNA to miRNA by DICER1. Promotes UBC9-p53/TP53 association and sumoylation and phosphorylation of p53/TP53 at 'Lys-386' at 'Ser-392' respectively and enhances its activity in a EIF2AK2/PKR-dependent manner (By similarity). May function as regulator of gastric epithelial differentiation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; CRISPR Screen Reveals PACT as a Pro-Viral Factor for Dengue Viral Replication. Publication Status: Online-Only, [RefSeq, PubMed]; PACT inhibits the replication of SARS-CoV-2 through the blockage of GSK-3beta-N-nsp3 cascade., [RefSeq, PubMed]; PACT promotes the metastasis of basal-like breast cancer through Rac1 SUMOylation and activation., [RefSeq, PubMed]; This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 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": 9, "reported_mutagensis": 15, "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": "A8K3I6;Q53G24;Q6X7T5;Q8NDK4", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008047 enzyme activator activity;GO:0019899 enzyme 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:0016020 membrane", "go_biological_process": "GO:0070922 RISC complex assembly;GO:0006955 immune response;GO:0008285 negative regulation of cell population proliferation;GO:0009615 response to virus;GO:0050821 protein stabilization", "synthesized_glycan_count": 0, "hit_score": 23.9, "record_id": "O75569-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86V42-1", "uniprot_id": [ { "id": "F124A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86V42", "type": "external" } ], "mass": 60104.0, "length": 546, "protein_name": "Protein FAM124A", "gene_name": "FAM124A", "organism": "Human", "refseq_name": "protein FAM124A isoform 2", "refseq_ac": [ { "id": "NP_001229241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229241", "type": "external" } ], "gene_names_uniprotkb": "FAM124A", "gene_names_refseq": "FAM124A", "protein_names_uniprotkb": "Protein FAM124A", "protein_names_refseq": "family with sequence similarity 124A; protein FAM124A isoform 2; protein FAM124A", "tax_id": 9606, "disease": "", "pathway": " (hsa:220108)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "25576301;25892735;28228285;28657654;30429286;31154438;31844290;34171305;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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A2A324;Q8N8P9;Q8NE66;Q96NJ9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q86V42-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O76003-1", "uniprot_id": [ { "id": "GLRX3_HUMAN", "url": "https://www.uniprot.org/uniprot/O76003", "type": "external" } ], "mass": 37432.0, "length": 335, "protein_name": "Glutaredoxin-3", "gene_name": "GLRX3", "organism": "Human", "refseq_name": "glutaredoxin-3 isoform 1", "refseq_ac": [ { "id": "NP_001186797", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186797", "type": "external" } ], "gene_names_uniprotkb": "GLRX3; HUSSY-22; PICOT; TXNL2", "gene_names_refseq": "GLRX3; GLRX4; GRX3; GRX4; PICOT; TXNL2; TXNL3", "protein_names_uniprotkb": "Glutaredoxin-3; PICOT; PKC-interacting cousin of thioredoxin; PKC-theta-interacting protein; PKCq-interacting protein; Thioredoxin-like protein 2", "protein_names_refseq": "PKC-interacting cousin of thioredoxin; PKC-theta-interacting protein; PKCq-interacting protein; glutaredoxin 4; glutaredoxin-3 isoform 1; testicular tissue protein Li 75; thioredoxin-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10539); (R-HSA-917937)", "pathway_count": 2, "publication_count": 110, "publication_id_list": "10597293;10636891;11124703;11323407;12453412;12504026;12958161;14576842;15001581;15044468;15201052;15531878;15537541;16143108;16274220;16377569;16407072;16510471;18194661;18767875;18991276;1946430;19762596;19762597;20226171;20550936;2154449;22223895;22309771;23186163;23481700;23615448;24714562;25645385;26375851;26613676;26728094;26992070;27397612;27519415;27543614;27600516;27920218;28063628;28218747;28228285;28510447;28514659;28649982;28832583;28834231;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30410026;30429286;30524438;30833945;31092671;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32350084;32387766;32414791;32429669;32502341;32897882;32938616;32983136;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34229054;34357683;34509645;34794402;34932366;35008409;35051231;35251023;35561310;35580925;36010968;36284347;36581221;37938771;40914422;7983023;8041788;8695634", "class_list": "", "function": "GLRX3 Acts as a [2Fe-2S] Cluster Chaperone in the Cytosolic Iron-Sulfur Assembly Machinery Transferring [2Fe-2S] Clusters to NUBP1., [RefSeq, PubMed]; GLRX3, a novel cancer stem cell-related secretory biomarker of pancreatic ductal adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Interactions of GMP with Human Glrx3 and with Saccharomyces cerevisiae Grx3 and Grx4 Converge in the Regulation of the Gcn2 Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the glutaredoxin family. Glutaredoxins are oxidoreductase enzymes that reduce a variety of substrates using glutathione as a cofactor. The encoded protein binds to and modulates the function of protein kinase C theta. The encoded protein may also inhibit apoptosis and play a role in cellular growth, and the expression of this gene may be a marker for cancer. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]; Together with BOLA2, acts as a cytosolic iron-sulfur (Fe-S) cluster assembly factor that facilitates [2Fe-2S] cluster insertion into a subset of cytosolic proteins (PubMed:26613676, PubMed:27519415). Acts as a critical negative regulator of cardiac hypertrophy and a positive inotropic regulator (By similarity). Required for hemoglobin maturation (PubMed:23615448). Does not possess any thioredoxin activity since it lacks the conserved motif that is essential for catalytic activity., [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": 3, "reported_mutagensis": 4, "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": "B3KMP7;B3KMQ5;D3DRG2;Q5JV01;Q96CE0;Q9P1B0;Q9P1B1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0005080 protein kinase C binding;GO:0051536 iron-sulfur cluster binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005938 cell cortex;GO:0030425 dendrite", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0006879 intracellular iron ion homeostasis;GO:0045454 cell redox homeostasis;GO:0002026 regulation of the force of heart contraction;GO:0010614 negative regulation of cardiac muscle hypertrophy", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "O76003-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15131-1", "uniprot_id": [ { "id": "IMA6_HUMAN", "url": "https://www.uniprot.org/uniprot/O15131", "type": "external" } ], "mass": 60666.0, "length": 539, "protein_name": "Importin subunit alpha-6", "gene_name": "KPNA5", "organism": "Human", "refseq_name": "importin subunit alpha-6 isoform b", "refseq_ac": [ { "id": "NP_002260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002260", "type": "external" } ], "gene_names_uniprotkb": "KPNA5", "gene_names_refseq": "IPOA6; KPNA5; SRP6", "protein_names_uniprotkb": "Importin subunit alpha-6; Karyopherin subunit alpha-5", "protein_names_refseq": "importin alpha 6; importin subunit alpha-6 isoform b; importin subunit alpha-6; karyopherin alpha 5 (importin alpha 6)", "tax_id": 9606, "disease": "", "pathway": " (hsa:3841); (R-HSA-1169408); (R-HSA-168276); (R-HSA-9918432)", "pathway_count": 4, "publication_count": 60, "publication_id_list": "10205180;10228156;10846107;11095724;11112487;11157743;11237011;11788588;12525615;12582176;12610148;12740372;15131269;15485925;15702989;16009940;16112642;16122702;16139798;16352599;16407192;16428300;16699525;16715065;16775314;16815975;16872604;16914094;16959974;17289916;17376915;17928350;18287095;18305167;18583345;19073728;19125153;19270716;19413330;20133869;20219937;20308324;20385878;26208004;27383988;28228593;28835592;29632711;30355688;32387766;34185709;35215835;36215666;36284347;38793607;7559393;8313914;9395085;9525617;9651582", "class_list": "", "function": "Data suggest that IGFBP5 nuclear import is mediated by KPNA5/KPNB1 complex; nuclear localization sequence of IGFBP5 is critical domain in this nuclear translocation. (IGFBP5 = insulin-like growth factor binding protein-5; KPNA5 = karyopherin subunit alpha-5; KPNB1 = karyopherin subunit beta-1/importin-beta), [RefSeq, 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. Mediates nuclear import of STAT1 homodimers and STAT1/STAT2 heterodimers by recognizing non-classical NLSs of STAT1 and STAT2 through ARM repeats 8-9. Recognizes influenza A virus nucleoprotein through ARM repeat 7-9 In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS., [UniProtKB]; Functions in nuclear protein import., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC) which consists of 60-100 proteins and is probably 120 million daltons in molecular size. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion; larger molecules are transported by an active process. Most nuclear proteins contain short basic amino acid sequences known as nuclear localization signals (NLSs). KPNA5 protein belongs to the importin alpha protein family and is thought to be involved in NLS-dependent protein import into 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2RAI5;Q86X23", "ec_number_list": [], "go_molecular_function": "GO:0008139 nuclear localization sequence binding;GO:0061608 nuclear import signal receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0042564 NLS-dependent protein nuclear import complex;GO:0005737 cytoplasm", "go_biological_process": "GO:0006607 NLS-bearing protein import into nucleus;GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "O15131-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94829-1", "uniprot_id": [ { "id": "IPO13_HUMAN", "url": "https://www.uniprot.org/uniprot/O94829", "type": "external" } ], "mass": 108195.0, "length": 963, "protein_name": "Importin-13", "gene_name": "IPO13", "organism": "Human", "refseq_name": "importin-13", "refseq_ac": [ { "id": "NP_055467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055467", "type": "external" } ], "gene_names_uniprotkb": "IPO13; KIAA0724; RANBP13", "gene_names_refseq": "IMP13; IPO13; KAP13; LGL2; RANBP13", "protein_names_uniprotkb": "Importin-13; Imp13; Kap13; Karyopherin-13; Ran-binding protein 13; RanBP13", "protein_names_refseq": "Ran binding protein 13; importin-13; karyopherin 13; late gestation lung 2; ran-binding protein 13", "tax_id": 9606, "disease": "microphthalmia (Disease Ontology:DOID:10629); cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:9670)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "10745026;11237011;11447110;15143176;20122403;21139563;25576301;28514659;28649982;28832583;28904123;29242379;29557506;30045875;30315122;30429286;31154438;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32938616;33082305;33298915;33592498;33968037;34509645;34625540;35051231;36010968;36672214", "class_list": "", "function": "Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin 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 the 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 (By similarity). Mediates the nuclear import of UBC9, the RBM8A/MAGOH complex, PAX6 and probably other members of the paired homeobox family. Also mediates nuclear export of eIF-1A, and the cytoplasmic release of eIF-1A is triggered by the loading of import substrates onto IPO13., [UniProtKB, PubMed, PubMed]; Importin 13 promotes NSCLC progression by mediating RFPL3 nuclear translocation and hTERT expression upregulation. Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear transporter Importin-13 plays a key role in the oxidative stress transcriptional response. Publication Status: Online-Only, [RefSeq, PubMed]; The Nuclear Transporter Importin 13 Can Regulate Stress-Induced Cell Death through the Clusterin/KU70 Axis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the importin-beta family of nuclear transport proteins. The encoded protein mediates the import of specific cargo proteins from the cytoplasm to the nucleus and is dependent on the Ras-related nuclear protein-GTPase system. The encoded protein is also involved in nuclear export of the eukaryotic translation initiation factor 1A.[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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DPY4;Q5T4X3;Q7LC04;Q96HS3;Q9H8N3;Q9UFR1", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "O94829-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22694-1", "uniprot_id": [ { "id": "KAPCB_HUMAN", "url": "https://www.uniprot.org/uniprot/P22694", "type": "external" } ], "mass": 40623.0, "length": 351, "protein_name": "cAMP-dependent protein kinase catalytic subunit beta", "gene_name": "PRKACB", "organism": "Human", "refseq_name": "cAMP-dependent protein kinase catalytic subunit beta isoform 4", "refseq_ac": [ { "id": "NP_001229786", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229786", "type": "external" } ], "gene_names_uniprotkb": "PRKACB", "gene_names_refseq": "CAFD2; PKA C-beta; PKACB; PRKACB", "protein_names_uniprotkb": "cAMP-dependent protein kinase catalytic subunit beta; 2.7.11.11; PKA C-beta", "protein_names_refseq": "cAMP-dependent protein kinase catalytic subunit beta isoform 4; protein kinase A catalytic subunit beta; protein kinase, cAMP-dependent, beta catalytic subunit; protein kinase, cAMP-dependent, catalytic, beta", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); brain ischemia (Disease Ontology:DOID:2316); cardioacrofacial dysplasia 2 (MONDO:MONDO:0030877)", "pathway": " (hsa:5567); (R-HSA-111931); (R-HSA-163358); (R-HSA-163560); (R-HSA-163615); (R-HSA-164378); (R-HSA-180024); (R-HSA-381676); (R-HSA-392517); (R-HSA-422356); (R-HSA-432040); (R-HSA-4420097); (R-HSA-442720); (R-HSA-5610780); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5610787); (R-HSA-5621575); (R-HSA-5687128); (R-HSA-8853659); (R-HSA-8963896); (R-HSA-9010642); (R-HSA-9634597); (R-HSA-9634600); (R-HSA-9660821); (R-HSA-9664323); (R-HSA-983231); (R-HSA-9856530)", "pathway_count": 28, "publication_count": 610, "publication_id_list": 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"class_list": "", "function": "Dual-Specificity Phosphatase 4 Promotes Malignant Features in Colorectal Cancer Through Cyclic-AMP Response Element Binding Protein/Protein Kinase CAMP-Activated Catalytic Subunit Beta Activation., [RefSeq, PubMed]; Gene Rearrangement and Expression of PRKACA and PRKACB Govern Morphobiology of Pancreatobiliary Oncocytic Neoplasms., [RefSeq, PubMed]; Investigation of -PRKACA/-PRKACB fusion genes in oncocytic tumors of the pancreatobiliary and other systems., [RefSeq, PubMed]; Mediates cAMP-dependent signaling triggered by receptor binding to GPCRs (PubMed:12420224, PubMed:21423175, PubMed:31112131). PKA activation regulates diverse cellular processes such as cell proliferation, the cell cycle, differentiation and regulation of microtubule dynamics, chromatin condensation and decondensation, nuclear envelope disassembly and reassembly, as well as regulation of intracellular transport mechanisms and ion flux (PubMed:12420224, PubMed:21423175). 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:12420224, PubMed:21423175). Phosphorylates GPKOW which regulates its ability to bind RNA (PubMed:21880142). Acts as a negative regulator of mTORC1 by mediating phosphorylation of RPTOR (PubMed:31112131)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; PRKACA/PRKACB Fusions in Pancreatobiliary Intraductal Oncocytic Papillary Neoplasms Including Those With Atypical Morphology: An Analysis of 22 Cases Expanding Morphologic Spectrum., [RefSeq, PubMed]; The protein encoded by this gene is a member of the serine/threonine protein kinase family. The encoded protein is a catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase, which mediates signalling though cAMP. cAMP signaling is important to a number of processes, including cell proliferaton and differentiation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 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": 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": "B1APG4;B4DKB0;B4E2Q1;Q14VH1;Q59GC0;Q5BNE9;Q5BNF0;Q5BNF1;Q5BNF2;Q5BNF3;Q5CZ92;Q5T1K3;Q7Z3M1;Q8IYR5;Q8IZQ0;Q96B09", "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": "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": 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"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": "3.1.1.23", "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": 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"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:0004691 cAMP-dependent protein kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0003091 renal water homeostasis;GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0032024 positive regulation of insulin secretion", "synthesized_glycan_count": 0, "hit_score": 61.3, "record_id": "P22694-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15652-1", "uniprot_id": [ { "id": "JHD2C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15652", "type": "external" } ], "mass": 284525.0, "length": 2540, "protein_name": "Jumonji domain-containing protein 1C", "gene_name": "JMJD1C", "organism": "Human", "refseq_name": "jumonji domain-containing protein 1C isoform c", "refseq_ac": [ { "id": "NP_001269877", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269877", "type": "external" } ], "gene_names_uniprotkb": "JMJD1C; JHDM2C; KDM3C; KIAA1380; TRIP8", "gene_names_refseq": "JMJD1C; KDM3C; TRIP-8; TRIP8", "protein_names_uniprotkb": "Jumonji domain-containing protein 1C; 1.14.11.-; TR-interacting protein 8; TRIP-8; Thyroid receptor-interacting protein 8", "protein_names_refseq": "TR-interacting protein 8; jumonji domain-containing protein 1C isoform c; lysine demethylase 3C; probable JmjC domain-containing histone demethylation protein 2C; thyroid hormone receptor interactor 8; thyroid receptor-interacting protein 8", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:221037); (R-HSA-983231)", "pathway_count": 2, "publication_count": 158, "publication_id_list": 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"class_list": "", "function": "Circ_JMJD1C expedites breast cancer progression by regulating miR-182-5p/JMJD1C/SOX4 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Coactivator of androgen receptor., [UniProtKB, PubMed]; Demethylates lysine in proteins, such as STAT3 or MDC1 (By similarity) (PubMed:24240613). Demethylates MDC1, thereby promoting MDC1-RNF8 interaction and facilitating RNF8-dependent MDC1 ubiquitination essential for double-strand break (DSB) repair (PubMed:24240613). Demethylation of STAT3 at 'Lys-140' facilitates its interactions with the phosphatase PTPN6 and restrains STAT3 activation (By similarity). It is uncertain whether JMJD1C removes methyl groups from histone proteins as the other JMJD1/KDM3 proteins do (PubMed:23593242, PubMed:24240613, PubMed:32034158). Nevertheless, JMJD1C may act as a context-specific histone demethylase. Implicated in lipogenic gene transcription in the liver, where USF1 recruits JMJD1C to lipogenic promoters in response to insulin or feeding stimuli, thereby potentially promoting H3K9me2 demethylation and enhancing chromatin accessibility (PubMed:32034158). Post-translational modifications may regulate JMJD1C's enzymatic activity, contributing to its context-specific functions (PubMed:32034158). Alternatively, JMJD1C may influence chromatin regulation indirectly, acting as a scaffold or co-regulator that recruits or stabilizes other active demethylase complexes modifying histone marks (PubMed:24240613). Plays an indispensable role in spermatogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Histone demethylase KDM3C regulates the lncRNA GAS5-miR-495-3p-PHF8 axis in cardiac hypertrophy., [RefSeq, PubMed]; Human JMJD1C variant 2 with TRI8H1, TRI8H2, and JmjC domains showed 85.7% total-amino-acid identity with mouse Jmjd1c., [RefSeq, PubMed]; JMJD1C Regulates Megakaryopoiesis in In Vitro Models through the Actin Network. Publication Status: Online-Only, [RefSeq, PubMed]; TRIP8 gene codes for a protein predicted to be a transcriptional regulator associated with nuclear thyroid hormone receptors. Positional candidate gene for autism., [RefSeq, PubMed]; Targeting JMJD1C to selectively disrupt tumor Treg cell fitness enhances antitumor immunity., [RefSeq, PubMed]; The discovery of a new Receptors, Androgen coactivator which belongs to the JmjC containing enzyme family as a novel variant of JMJD1C, [RefSeq, PubMed]; The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability. 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": 3, "reported_o_glycosites_with_glycan": 57, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 57, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 57, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 28, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 132, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 60, "binding_glycan_count": 0, "secondary_ac_list": "A0T124;Q5SQZ8;Q5SQZ9;Q5SR00;Q7Z3E7;Q8N3U0;Q96KB9;Q9P2G7", "ec_number_list": [ { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0031490 chromatin DNA binding;GO:0046966 nuclear thyroid hormone receptor binding;GO:0051213 dioxygenase activity;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0000118 histone deacetylase complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008610 lipid biosynthetic process;GO:0006355 regulation of DNA-templated transcription;GO:0007596 blood coagulation", "synthesized_glycan_count": 0, "hit_score": 22.3, "record_id": "Q15652-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14901-1", "uniprot_id": [ { "id": "KLF11_HUMAN", "url": "https://www.uniprot.org/uniprot/O14901", "type": "external" } ], "mass": 55139.0, "length": 512, "protein_name": "Krueppel-like factor 11", "gene_name": "KLF11", "organism": "Human", "refseq_name": "Krueppel-like factor 11 isoform b", "refseq_ac": [ { "id": "NP_001171187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171187", "type": "external" } ], "gene_names_uniprotkb": "KLF11; FKLF; TIEG2", "gene_names_refseq": "FKLF1; FKLF; KLF11; MODY7; TIEG2; Tieg3", "protein_names_uniprotkb": "Krueppel-like factor 11; TGFB-inducible early growth response protein 2; TIEG-2; Transforming growth factor-beta-inducible early growth response protein 2", "protein_names_refseq": "Krueppel-like factor 11 isoform b; Kruppel like factor 11; TGFB-inducible early growth response protein 2; TIEG-2; krueppel-like factor 11; transforming growth factor-beta-inducible early growth response protein 2", "tax_id": 9606, "disease": "maturity-onset diabetes of the young type 7 (Disease Ontology:DOID:0111106); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:8462)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10207080;11087666;11237011;15774581;16131492;23186163;24715725;27862975;28904123;29557506;30429286;31844290;31848261;32161166;32387766;33968037;34171305;35051231;35580925;36241199;36944622;37248295;37952239;38824688;9748269", "class_list": "", "function": "Aberrant cell adhesiveness due to DNA hypermethylation of KLF11 in papillary urothelial carcinomas., [RefSeq, PubMed]; Genetic and Functional Analyses of the Novel KLF11 Pro193Thr Variant in a Three-Generation Family with MODY7., [RefSeq, PubMed]; KLF11 regulates lung adenocarcinoma ferroptosis and chemosensitivity by suppressing GPX4. Publication Status: Online-Only, [RefSeq, PubMed]; Maturity-onset Diabetes of the Young Type 7 (MODY7) and the Kruppellike Factor 11 Mutation (KLF11). A Review. Review article, [RefSeq, PubMed]; Maturity-onset diabetes of the young type 7 (MODY7) and mutation in the Kruppel-like transcription factor 11 (KLF11) gene., [RefSeq, PubMed]; The protein encoded by this gene is a zinc finger transcription factor that binds to SP1-like sequences in epsilon- and gamma-globin gene promoters. This binding inhibits cell growth and causes apoptosis. Defects in this gene are a cause of maturity-onset diabetes of the young type 7 (MODY7). Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]., [RefSeq]; Transcription factor (PubMed:10207080, PubMed:9748269). Activates the epsilon- and gamma-globin gene promoters and, to a much lower degree, the beta-globin gene and represses promoters containing SP1-like binding inhibiting cell growth (PubMed:10207080, PubMed:16131492, PubMed:9748269). Represses transcription of SMAD7 which enhances TGF-beta signaling (By similarity). Induces apoptosis (By similarity)., [UniProtKB, UniProtKB, 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "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": "B4DZE7;Q9EPF4", "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: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:1990859 cellular response to endothelin;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:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "O14901-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBB6-1", "uniprot_id": [ { "id": "NCDN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBB6", "type": "external" } ], "mass": 78864.0, "length": 729, "protein_name": "Neurochondrin", "gene_name": "NCDN", "organism": "Human", "refseq_name": "neurochondrin isoform 2", "refseq_ac": [ { "id": "NP_001014841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014841", "type": "external" } ], "gene_names_uniprotkb": "NCDN; KIAA0607", "gene_names_refseq": "NCDN; NEDIES", "protein_names_uniprotkb": "Neurochondrin", "protein_names_refseq": "neurochondrin isoform 2; norbin", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419); neurodevelopmental disorder with infantile epileptic spasms (MONDO:MONDO:0859162)", "pathway": " (hsa:23154)", "pathway_count": 1, "publication_count": 78, "publication_id_list": "10524216;11237011;16945926;16959974;17924679;22424782;22544926;23186163;23301498;23481700;23687301;24366607;24715725;25418920;25576301;25645385;25892735;25916936;26048293;26375851;26758079;26992070;27600516;27846572;27920218;28218747;28228285;28514659;28832583;28904123;29070854;29242379;29393594;29437277;29557506;29632046;29769354;29789417;30315122;30429286;30524438;30779550;31154438;31222486;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33592498;33691108;33711248;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34509645;34561969;34932366;35051231;35580925;36010968;36241641;36581221;40914422", "class_list": "", "function": "Low norbin expression is associated with Epilepsy. Publication Status: Online-Only, [RefSeq, PubMed]; Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy. Erratum:[Am J Hum Genet. 2022 Mar 3;109(3):542-546. doi: 10.1016/j.ajhg.2022.02.007. PMID: 35245475], [RefSeq, PubMed]; Probably involved in signal transduction in the nervous system, via increasing cell surface localization of GRM5/mGluR5 and positively regulating its signaling (PubMed:33711248). Required for the spatial learning process. Acts as a negative regulator of Ca(2+)-calmodulin-dependent protein kinase 2 (CaMK2) phosphorylation. May play a role in modulating melanin-concentrating hormone-mediated functions via its interaction with MCHR1 that interferes with G protein-coupled signal transduction. May be involved in bone metabolism. May also be involved in neurite outgrowth (Probable)., [UniProtKB, PubMed, PubMed]; Schizophrenia subjects compared to controls showed a marked increase in CA1 hippocampal Norbin, and Tamalin proteins (47% and 34% respectively), which are endogenous regulators of mGluR5 signalling and trafficking, [RefSeq, PubMed]; This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates Ca/calmodulin-dependent protein kinase II phosphorylation and may be essential for spatial learning processes. Several alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; We demonstrate that neurochondrin has strong isoform selectivity towards the RIIa subunit of PKA with nanomolar affinity, [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": 4, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "D3DPR9;Q9UBY2;Q9Y4A6;Q9Y4D9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0016020 membrane;GO:0030425 dendrite;GO:0043025 neuronal cell body", "go_biological_process": "GO:0031175 neuron projection development;GO:0048168 regulation of neuronal synaptic plasticity;GO:0099149 regulation of postsynaptic neurotransmitter receptor internalization", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9UBB6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NP31-1", "uniprot_id": [ { "id": "SH22A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NP31", "type": "external" } ], "mass": 42934.0, "length": 389, "protein_name": "SH2 domain-containing protein 2A", "gene_name": "SH2D2A", "organism": "Human", "refseq_name": "SH2 domain-containing protein 2A isoform 3", "refseq_ac": [ { "id": "NP_001154914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154914", "type": "external" } ], "gene_names_uniprotkb": "SH2D2A; SCAP; TSAD; VRAP", "gene_names_refseq": "F2771; SH2D2A; TSAD; VRAP", "protein_names_uniprotkb": "SH2 domain-containing protein 2A; SH2 domain-containing adapter protein; T cell-specific adapter protein; TSAd; VEGF receptor-associated protein", "protein_names_refseq": "SH2 domain protein 2A; SH2 domain-containing protein 2A isoform 3; SH2 domain-containing protein 2A; T cell specific adapter protein TSAd; T lymphocyte specific adaptor protein; VEGF receptor-associated protein", "tax_id": 9606, "disease": "multiple sclerosis (Disease Ontology:DOID:2377); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676)", "pathway": " (hsa:9047); (R-HSA-4420097)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10037737;10075701;10207622;10395673;10677529;10692392;10744763;10749680;10752626;11007481;11278486;11528519;11695992;11696015;12134158;12214271;12215529;12391143;12464388;12660731;12810700;12820653;14724572;15026417;15247219;15308668;15592455;15688067;15695828;15962004;16336962;16497976;16760434;16966330;17030947;17199126;17237347;17293873;17686471;18541536;18669648;19230644;19267251;19901323;20658524;21445309;22327215;22689825;23216836;24366607;25892735;26163016;27896837;27920218;28832583;28904123;29242379;29493099;29557506;29789417;31154438;31484725;31530632;31844290;32157095;32897882;33046503;33912179;37315471;40914422;7509446;8617235;8986718;9099726;9182576;9393975;9398617;9468509;9472046", "class_list": "", "function": "Could be a T-cell-specific adapter protein involved in the control of T-cell activation. May play a role in the CD4-p56-LCK-dependent signal transduction pathway. Could also play an important role in normal and pathological angiogenesis. Could be an adapter protein that facilitates and regulates interaction of KDR with effector proteins important to endothelial cell survival and proliferation., [UniProtKB]; Data indicate that the T cell-specific adaptor protein (TSAd) SH2 domain interacts with CD6 antigen and linker for activation of T cells protein (LAT) phosphotyrosine (pTyr) peptides., [RefSeq, PubMed]; Downregulation of lncRNA XIST may promote Th17 differentiation through KDM6A-TSAd pathway in neuromyelitis optica spectrum disorders., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TSAd Plays a Major Role in Myo9b-Mediated Suppression of Malignant Pleural Effusion by Regulating TH1/TH17 Cell Response., [RefSeq, PubMed]; The ITK SH3 and LCK SH3 domains can both competefor and simultaneously bind to adjacent binding sites on TSAD encompassing aa 242-268., [RefSeq, PubMed]; This gene encodes an adaptor protein thought to function in T-cell signal transduction. A related protein in mouse is responsible for the activation of lymphocyte-specific protein-tyrosine kinase and functions in downstream signaling. Alternative splicing results in multiple 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "O43817;Q5UBZ1;Q5VZS4;Q5VZS5;Q9UPA7", "ec_number_list": [], "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0001525 angiogenesis;GO:0007165 signal transduction;GO:0030154 cell differentiation;GO:0042110 T cell activation", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q9NP31-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6S5L8-1", "uniprot_id": [ { "id": "SHC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6S5L8", "type": "external" } ], "mass": 68785.0, "length": 630, "protein_name": "SHC-transforming protein 4", "gene_name": "SHC4", "organism": "Human", "refseq_name": "SHC-transforming protein 4", "refseq_ac": [ { "id": "NP_976224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_976224", "type": "external" } ], "gene_names_uniprotkb": "SHC4; PRO21364; SHCD", "gene_names_refseq": "RaLP; SHC4; SHCD", "protein_names_uniprotkb": "SHC-transforming protein 4; RaLP; Rai-like protein; SH2 domain protein C4; SHC-transforming protein D; Src homology 2 domain-containing-transforming protein C4; hShcD", "protein_names_refseq": "SH2 domain protein C4; SHC (Src homology 2 domain containing) family, member 4; SHC-transforming protein 4; SHC-transforming protein D; hShcD; rai-like protein; src homology 2 domain-containing-transforming protein C4", "tax_id": 9606, "disease": "", "pathway": " (hsa:399694)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;12975309;17409413;17452444;20078941;20663410;24715725;27600516;28213521;28724758;29242379;29493099;31844290;31848261;32157095;33495401;33691108;33968037;34171305;34932366;35051231;35580925;36010968;36241641;37938771;38052369", "class_list": "", "function": "A new member of the Shc family of docking proteins is characterised, which may mediate a specific aspect of signaling downstream of the MuSK receptor., [RefSeq, PubMed]; Activates both Ras-dependent and Ras-independent migratory pathways in melanomas. Contributes to the early phases of agrin-induced tyrosine phosphorylation of CHRNB1., [UniProtKB, PubMed]; Adaptor Protein ShcD/SHC4 Interacts with Tie2 Receptor to Synergistically Promote Glioma Cell Invasion., [RefSeq, PubMed]; SHC4 orchestrates beta-catenin pathway-mediated metastasis in triple-negative breast cancer by promoting Src kinase autophosphorylation., [RefSeq, PubMed]; ShcD appears to possess several molecular permutations that actively govern the EGFR, which may have implications in development and disease., [RefSeq, PubMed]; ShcD binds to TrkC in a kinase-activity-dependent manner through its PTB and SH2 domains., [RefSeq, PubMed]; ShcD binds to active Ret, TrkA, and TrkB neurotrophic factor receptors predominantly via its phosphotyrosine-binding (PTB) domain., [RefSeq, PubMed]; ShcD interacts with TrkB in a kinase-activity-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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q6UXQ3;Q8IYW3", "ec_number_list": [], "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0030971 receptor tyrosine kinase binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q6S5L8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60493-1", "uniprot_id": [ { "id": "SNX3_HUMAN", "url": "https://www.uniprot.org/uniprot/O60493", "type": "external" } ], "mass": 18762.0, "length": 162, "protein_name": "Sorting nexin-3", "gene_name": "SNX3", "organism": "Human", "refseq_name": "sorting nexin-3 isoform d", "refseq_ac": [ { "id": "NP_001287858", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287858", "type": "external" } ], "gene_names_uniprotkb": "SNX3", "gene_names_refseq": "Grd19; MCOPS8; SDP3; SNX3", "protein_names_uniprotkb": "Sorting nexin-3; Protein SDP3", "protein_names_refseq": "sorting nexin 3A; sorting nexin-3 isoform d", "tax_id": 9606, "disease": "", "pathway": " (hsa:8724); (R-HSA-3238698); (R-HSA-5689880)", "pathway_count": 3, "publication_count": 201, "publication_id_list": "10444327;10694878;10982817;11031247;11231171;11433298;11566882;11923872;12471201;12665801;12717451;12917689;12917691;14661020;15053880;15916963;16214042;16364628;16645052;16678095;16678096;16901786;16964243;16964248;17081983;17108000;17117926;17141155;17290220;17397399;17443180;17622474;17873522;17980597;17981138;18160347;18160348;18172164;18193032;18193037;18430724;18467330;18632802;18636086;18669648;18767904;19015242;19135894;19188362;19363159;19398555;19424180;19442504;19566487;19619488;19651622;19837038;19838211;19874889;19910467;20068231;20096447;20166139;20228808;20368735;20477987;20482551;20501646;20533886;20826466;21239494;21362556;21554866;21571647;21596315;21659512;21725318;21725319;21768372;21849505;21886182;21962518;22027831;22029577;22041890;22046319;22085928;22094269;22094272;22108505;22128162;22216260;22645359;22653731;22784633;22888000;22952392;22983114;23148298;23159851;23186163;23237080;23260141;23395819;23486064;23824326;23825189;24029068;24056413;24129315;24260525;24344282;24493797;24714562;24715725;24866125;24896179;25197364;25305019;25418920;25576301;25578727;25645385;25810538;25892735;26024233;26154972;26728094;26811146;26929215;26992070;27846572;27862975;27920218;28063628;28218747;28228285;28467828;28832583;28834231;28904123;29242379;29314611;29331515;29393594;29437277;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30213940;30315122;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31611695;31844290;31848261;32157095;32161166;32265295;32350084;32387766;32502341;32897882;32983136;33043033;33214242;33214551;33592498;33691108;33717175;33753211;33947971;33968037;33981976;34019948;34171305;34357683;34932366;35051231;35154160;35251023;35318648;35580925;36215666;36241641;37938771;38665916;7578059;8167409;8262072;8985181;9819414", "class_list": "", "function": "(Microbial infection) In the case of Salmonella enterica infection, plays a role in maturation of the Salmonella-containing vacuole (SCV) and promotes recruitment of LAMP1 to SCVs., [UniProtKB, PubMed]; LINC01614 promotes osteosarcoma progression via miR-520a-3p/SNX3 axis., [RefSeq, PubMed]; Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds phosphatidylinositol 3-phosphate (PtdIns(P3)). Can also bind phosphatidylinositol 4-phosphate (PtdIns(P4)), phosphatidylinositol 5-phosphate (PtdIns(P5)) and phosphatidylinositol 3,5-biphosphate (PtdIns(3,5)P2) (By similarity). Plays a role in protein transport between cellular compartments. Together with RAB7A facilitates endosome membrane association of the retromer cargo-selective subcomplex (CSC/VPS). May in part act as component of the SNX3-retromer complex which mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway (PubMed:21725319, PubMed:24344282, PubMed:30213940). Promotes stability and cell surface expression of epithelial sodium channel (ENAC) subunits SCNN1A and SCNN1G (By similarity). Not involved in EGFR degradation. Involved in the regulation of phagocytosis in dendritic cells possibly by regulating EEA1 recruitment to the nascent phagosomes (PubMed:23237080). Involved in iron homeostasis through regulation of endocytic recycling of the transferrin receptor TFRC presumably by delivering the transferrin:transferrin receptor complex to recycling endosomes; the function may involve the CSC retromer subcomplex (By similarity). Involved in regulation of neurite outgrowth in primary neurons (By similarity). Required for trafficking of WLS to the early endosome for recycling which promotes both canonical and non-canonical WNT signaling and is essential for neural tube closure (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype, [RefSeq, PubMed]; Sorting nexin 3 induces heart failure via promoting retromer-dependent nuclear trafficking of STAT3., [RefSeq, PubMed]; This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like most family members. This protein interacts with phosphatidylinositol-3-phosphate, and is involved in protein trafficking. A pseudogene of this gene is present on the sex chromosomes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 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": 16, "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": "A8K0B1;E1P5E4;E1P5E5;O60718;Q4TT29;Q4TT31;Q5JXJ7;Q5JXJ8;Q96AP9;Q9C0J5;Q9NU45", "ec_number_list": [], "go_molecular_function": "GO:0010314 phosphatidylinositol-5-phosphate binding;GO:0080025 phosphatidylinositol-3,5-bisphosphate binding;GO:0070273 phosphatidylinositol-4-phosphate binding;GO:0019903 protein phosphatase binding;GO:0032266 phosphatidylinositol-3-phosphate binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0031901 early endosome membrane", "go_biological_process": "GO:0010324 membrane invagination;GO:0010976 positive regulation of neuron projection development;GO:0015031 protein transport;GO:0009617 response to bacterium;GO:0030111 regulation of Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 20.4, "record_id": "O60493-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWY3-1", "uniprot_id": [ { "id": "PRP31_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWY3", "type": "external" } ], "mass": 55456.0, "length": 499, "protein_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "gene_name": "PRPF31", "organism": "Human", "refseq_name": "U4/U6 small nuclear ribonucleoprotein Prp31", "refseq_ac": [ { "id": "NP_056444", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056444", "type": "external" } ], "gene_names_uniprotkb": "PRPF31; PRP31", "gene_names_refseq": "NY-BR-99; PRP31; PRPF31; RP11; SNRNP61", "protein_names_uniprotkb": "U4/U6 small nuclear ribonucleoprotein Prp31; Pre-mRNA-processing factor 31; Protein 61K; Serologically defined breast cancer antigen NY-BR-99; U4/U6 snRNP 61 kDa protein; hPrp31", "protein_names_refseq": "PRP31 pre-mRNA processing factor 31 homolog; U4/U6 small nuclear ribonucleoprotein Prp31; U4/U6 snRNP 61 kDa protein; hPrp31; protein 61K; serologically defined breast cancer antigen NY-BR-99", "tax_id": 9606, "disease": "retinitis pigmentosa 11 (Disease Ontology:DOID:0110408); retinitis pigmentosa (Disease Ontology:DOID:10584)", "pathway": " (hsa:26121); (R-HSA-72163)", "pathway_count": 2, "publication_count": 185, "publication_id_list": "10882114;11014198;11101529;11230166;11233976;11237011;11545739;11867543;11991638;12176931;12411573;12414731;12444105;12477934;12747765;12923864;12939341;14625303;14713954;15960975;16314458;16723661;16809785;17003455;17095540;17332742;17412961;17606899;17697703;18212344;18322460;18452278;18593880;18669648;18991276;19103666;19165350;19536130;19664995;19690332;20068231;20118938;20166139;20423332;20980672;21385873;21536652;21697133;2176635;21784869;22110043;22121020;22365833;22959432;22961380;22967762;23186163;23222130;23236153;23345524;24196718;24275569;24304693;24448447;24714562;24715725;24737827;24914973;25418920;25555158;2558966;25645385;25810538;25892735;26154972;26375851;26385511;26420826;26811146;26912367;26969736;26992070;27377154;27459055;27543614;27600516;27683217;27862975;27920218;28062851;28063628;28076346;28228285;28446606;28502770;28510447;28781166;28832583;28834231;28904123;29242379;29301961;29360106;29361316;29393594;29493099;29508533;29557506;29632046;29632711;2963332;29769354;29786170;30315277;30429286;30524438;30705154;30728453;30765414;30779550;30833945;30975767;31092671;31154438;31217245;31222486;31409651;31530632;31844290;31848261;31998317;32157095;32161166;32179686;32265295;32329775;32357974;32387766;32494006;32502341;32897882;32938616;32983136;33243851;33446560;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34023904;34078123;34087483;34171305;34185709;34301950;34509645;34561969;34822310;34932366;35051231;35318648;35385551;35561310;35580925;36010968;36241641;36284347;3757028;37938771;38542364;40914422;8566756;8608946;8808602;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11867543, PubMed:20118938, PubMed:28781166). Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:11867543)., [UniProtKB, PubMed, PubMed, PubMed]; Involved in pre-mRNA splicing as component of the spliceosome. Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome., [UniProtKB, UniProtKB]; MLPA (multiplex ligation-dependent probe amplification) was used to identify genomic rearrangements in PRPF31 in five families, suggesting a frequency of approximately 2.5%., [RefSeq, PubMed]; Structural and biochemical analyses of hPrp31-15.5K-U4 snRNA complexes show how the conserved Nop domain in hPrp31 maintains high RNP binding selectivity despite relaxed RNA sequence requirements, [RefSeq, PubMed]; This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[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": 13, "reported_mutagensis": 3, "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": "E7ESA8;F1T0A4;F1T0A5;Q17RB4;Q8N7F9;Q9H271;Q9Y439", "ec_number_list": [], "go_molecular_function": "GO:0030621 U4 snRNA binding;GO:0003723 RNA binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0043021 ribonucleoprotein complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0015030 Cajal body;GO:0071339 MLL1 complex", "go_biological_process": "GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0000387 spliceosomal snRNP assembly;GO:0000398 mRNA splicing, via spliceosome;GO:0071166 ribonucleoprotein complex localization;GO:0000388 spliceosome conformational change to release U4 (or U4atac) and U1 (or U11)", "synthesized_glycan_count": 0, "hit_score": 18.8, "record_id": "Q8WWY3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12899-1", "uniprot_id": [ { "id": "TRI26_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12899", "type": "external" } ], "mass": 62166.0, "length": 539, "protein_name": "Tripartite motif-containing protein 26", "gene_name": "TRIM26", "organism": "Human", "refseq_name": "tripartite motif-containing protein 26", "refseq_ac": [ { "id": "NP_001229712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229712", "type": "external" } ], "gene_names_uniprotkb": "TRIM26; RNF95; ZNF173", "gene_names_refseq": "RNF95; TRIM26; ZNF173", "protein_names_uniprotkb": "Tripartite motif-containing protein 26; 2.3.2.27; AFP; Acid finger protein; RING finger protein 95; Zinc finger protein 173", "protein_names_refseq": "RING finger protein 95; tripartite motif-containing protein 26; zinc finger protein 173", "tax_id": 9606, "disease": "", "pathway": " (hsa:7726); (R-HSA-877300)", "pathway_count": 2, "publication_count": 132, "publication_id_list": "10067896;10986460;11237011;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15388922;15530433;16237089;16467876;16702430;17125875;18362138;18591661;20049711;20130243;20304997;20363976;21750715;23061660;23452852;23481700;24366607;24417533;24715725;25418920;25576301;25763818;26154972;26375851;26611359;26992070;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28832583;28834231;28855257;28904123;29203640;29242379;29331515;29437277;29493099;29508533;29557506;29610152;29632046;29632711;29786170;30315122;30410026;30429286;30484775;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33239784;33298915;33419081;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34017102;34087483;34171305;34405274;34509645;34561969;34732716;35051231;35251023;35580925;35872575;36010968;36108622;36232914;36284347;37591850;37872147;38038978;38773612;40914422;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530076;8530158;8550631;8631301;9111318;9143706", "class_list": "", "function": "(Microbial infection) Promotes herpes simplex virus type 2/HHV-2 infection in vaginal epithelial cells by decreasing the nuclear localization of IRF3, the primary mediator of type I interferon activation., [UniProtKB, PubMed]; E3 ubiquitin-protein ligase which regulates the IFN-beta production and antiviral response downstream of various DNA-encoded pattern-recognition receptors (PRRs). Also plays a central role in determining the response to different forms of oxidative stress by controlling levels of DNA glycosylases NEIL1, NEIL3 and NTH1 that are involved in repair of damaged DNA (PubMed:29610152, PubMed:36232914). Promotes nuclear IRF3 ubiquitination and proteasomal degradation (PubMed:25763818). Bridges together TBK1 and NEMO during the innate response to viral infection leading to the activation of TBK1. Positively regulates LPS-mediated inflammatory innate immune response by catalyzing the 'Lys-11'-linked polyubiquitination of TAB1 to enhance its activation and subsequent NF-kappa-B and MAPK signaling (PubMed:34017102). In a manner independent of its catalytic activity, inhibits WWP2, a SOX2-directed E3 ubiquitin ligase, and thus protects SOX2 from polyubiquitination and proteasomal degradation (PubMed:34732716). Ubiquitinates the histone acetyltransferase protein complex component PHF20 and thereby triggers its degradation in the nucleus after its recruitment by the histone demethylase KDM6B, serving as a scaffold protein (PubMed:23452852). Upon induction by TGF-beta, ubiquitinates the TFIID component TAF7 for proteasomal degradation (PubMed:29203640). Induces ferroptosis by ubiquitinating SLC7A11, a critical protein for lipid reactive oxygen species (ROS) scavenging (By similarity). Inhibits directly hepatitis B virus replication by mediating HBX ubiquitination and subsequent degradation (PubMed:35872575)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; TRIM26 inhibited osteosarcoma progression through destabilizing RACK1 and thus inactivation of MEK/ERK signaling. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM26 inhibits clear cell renal cell carcinoma progression through destabilizing ETK and thus inactivation of AKT/mTOR signaling. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM26 restricts Epstein-Barr virus infection in nasopharyngeal epithelial cells through K48-linked ubiquitination of HSP-90beta., [RefSeq, PubMed]; The E3 ligase TRIM26 suppresses ferroptosis through catalyzing K63-linked ubiquitination of GPX4 in glioma. Publication Status: Online-Only, [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. Although the function of the protein is unknown, the RING domain suggests that the protein may have DNA-binding activity. The gene localizes to the major histocompatibility complex (MHC) class I region on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2011]., [RefSeq]; Tripartite Motif Containing 26 is a Positive Predictor for Endometrial Carcinoma Patients and Regulates Cell Survival in Endometrial Carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NG96;Q5SRL2", "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": "2.3.2.-", "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": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0044790 suppression of viral release by host;GO:0045087 innate immune response;GO:1901224 positive regulation of non-canonical NF-kappaB signal transduction;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0070979 protein K11-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "Q12899-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UER7-1", "uniprot_id": [ { "id": "DAXX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UER7", "type": "external" } ], "mass": 81373.0, "length": 740, "protein_name": "Death domain-associated protein 6", "gene_name": "DAXX", "organism": "Human", "refseq_name": "death domain-associated protein 6 isoform a", "refseq_ac": [ { "id": "NP_001135441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135441", "type": "external" } ], "gene_names_uniprotkb": "DAXX; BING2; DAP6", "gene_names_refseq": "BING2; DAP6; DAXX; EAP1", "protein_names_uniprotkb": "Death domain-associated protein 6; Daxx; EAP1; ETS1-associated protein 1; Fas death domain-associated protein; hDaxx", "protein_names_refseq": "CENP-C binding protein; ETS1-associated protein 1; Fas-binding protein; death domain-associated protein 6 isoform a; death domain-associated protein 6; death-associated protein 6; fas death domain-associated protein", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); stroke (Disease Ontology:DOID:0051061); lung non-squamous non-small cell carcinoma (Disease Ontology:DOID:0080521); Parkinsonism (Disease Ontology:DOID:0080855); prostate cancer (Disease Ontology:DOID:10283); Hirschsprung's disease (Disease Ontology:DOID:10487); stomach cancer (Disease Ontology:DOID:10534); appendiceal neoplasm (Disease Ontology:DOID:11240); sciatic neuropathy (Disease Ontology:DOID:11446); leukemia (Disease Ontology:DOID:1240); renal agenesis (Disease Ontology:DOID:14766); neuroendocrine tumor (Disease Ontology:DOID:169); pancreatic endocrine carcinoma (Disease Ontology:DOID:1798); islet cell tumor (Disease Ontology:DOID:1799); ovary epithelial cancer (Disease Ontology:DOID:2152); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); colon adenocarcinoma (Disease Ontology:DOID:234); transitional cell carcinoma (Disease Ontology:DOID:2671); Churg-Strauss syndrome (Disease Ontology:DOID:3049); clear cell adenocarcinoma (Disease Ontology:DOID:4468); polyarteritis nodosa (Disease Ontology:DOID:9810)", "pathway": " (hsa:1616); (R-HSA-3899300); (R-HSA-6804757); (R-HSA-9609690); (R-HSA-9670095); (R-HSA-9670613); (R-HSA-9670615); (R-HSA-9920951)", "pathway_count": 8, "publication_count": 200, "publication_id_list": "10393185;10608892;10669754;10684855;10698492;10722742;10980695;10980696;11003656;11237011;11359766;11477070;11483955;11495919;11504915;11842083;11907324;11923872;11948183;11983168;12140263;12150977;12529333;12529400;12679040;12718889;12857923;12953102;12968034;14507994;14557665;14678985;14990586;15016915;15053880;15240113;15302935;1535557;15364927;15766567;15788536;15916963;15958389;15976810;16098147;16140760;1614537;16163388;16402859;16474402;16524876;16757475;16845383;16964243;17079232;17081983;17081986;17121812;17210684;17287340;17298944;17322306;17369852;17525332;17535915;17803295;17938171;17942393;17942542;18077418;18082607;18203656;18211901;18220336;18339323;18452278;18488044;18535146;18566590;18669648;18767875;18922870;19240082;19413330;19415658;19596686;19608861;19615980;19651622;19664994;19664995;19682613;19690332;19756449;19789335;19816404;19838211;19995069;20068231;20098713;20153724;20176810;20211137;20230923;20438709;20444888;20504901;20565132;20651253;20676127;20713061;20927612;21134643;21252315;21338522;21406692;21474068;21482821;21527249;21690215;21730132;21730163;21986495;22174689;22467880;22713328;23075851;23142979;23186163;23222847;23301498;23404503;23405218;23673342;24200965;24275569;24530302;24973451;25114211;25218447;25275136;25505266;25593184;25659035;25800734;26055325;26572645;26992070;27108190;27211601;27501258;27893789;28218747;28415052;28832583;28875424;29242379;29437277;30360396;30379171;30761409;30779550;30833945;31217245;31373491;31844290;32157095;32161166;32350084;32387766;32897882;32938616;33968037;33981976;34087483;34509645;35051231;35251023;35561310;35580925;36215666;36310878;36868228;37217939;37396746;37871853;38038252;38909708;40596516;7686617;7784084;7957050;8319905;8479525;8887688;8954786;9215629;9407001;9545376;9645950", "class_list": "", "function": "A partial human cDNA clone was identified by its interaction with murine Fas in a yeast two-hybrid screening. The human clone was then used to clone the murine Daxx, which was further characterized., [RefSeq, PubMed]; DAXX adds a de novo H3.3K9me3 deposition pathway to the histone chaperone network., [RefSeq, PubMed]; DAXX promotes centromeric stability independently of ATRX by preventing the accumulation of R-loop-induced DNA double-stranded breaks., [RefSeq, PubMed]; HPV16 E7 protein antagonizes TNF-alpha-induced apoptosis of cervical cancer cells via Daxx/JNK pathway., [RefSeq, PubMed]; Loss of ATRX and DAXX in pancreatic neuroendocrine tumors: Association with recurrence risk, cellular phenotype, and heterogeneity., [RefSeq, PubMed]; The Impact of Human Mammary Tumor Virus (HMTV) on the Expression of Epidermal Growth Factor Receptor (EGFR) and Death-Domain Associated Protein (DAXX) in Breast Carcinoma Tissues. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a multifunctional protein that resides in multiple locations in the nucleus and in the cytoplasm. It interacts with a wide variety of proteins, such as apoptosis antigen Fas, centromere protein C, and transcription factor erythroblastosis virus E26 oncogene homolog 1. In the nucleus, the encoded protein functions as a potent transcription repressor that binds to sumoylated transcription factors. Its repression can be relieved by the sequestration of this protein into promyelocytic leukemia nuclear bodies or nucleoli. This protein also associates with centromeres in G2 phase. In the cytoplasm, the encoded protein may function to regulate apoptosis. The subcellular localization and function of this protein are modulated by post-translational modifications, including sumoylation, phosphorylation and polyubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]., [RefSeq]; Transcription corepressor known to repress transcriptional potential of several sumoylated transcription factors. Down-regulates basal and activated transcription. Its transcription repressor activity is modulated by recruiting it to subnuclear compartments like the nucleolus or PML/POD/ND10 nuclear bodies through interactions with MCSR1 and PML, respectively. Seems to regulate transcription in PML/POD/ND10 nuclear bodies together with PML and may influence TNFRSF6-dependent apoptosis thereby. Inhibits transcriptional activation of PAX3 and ETS1 through direct protein-protein interactions. Modulates PAX5 activity; the function seems to involve CREBBP. Acts as an adapter protein in a MDM2-DAXX-USP7 complex by regulating the RING-finger E3 ligase MDM2 ubiquitination activity. Under non-stress condition, in association with the deubiquitinating USP7, prevents MDM2 self-ubiquitination and enhances the intrinsic E3 ligase activity of MDM2 towards TP53, thereby promoting TP53 ubiquitination and subsequent proteasomal degradation. Upon DNA damage, its association with MDM2 and USP7 is disrupted, resulting in increased MDM2 autoubiquitination and consequently, MDM2 degradation, which leads to TP53 stabilization. Acts as a histone chaperone that facilitates deposition of histone H3.3. Acts as a targeting component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Does not affect the ATPase activity of ATRX but alleviates its transcription repression activity. Upon neuronal activation associates with regulatory elements of selected immediate early genes where it promotes deposition of histone H3.3 which may be linked to transcriptional induction of these genes. Required for the recruitment of histone H3.3:H4 dimers to PML-nuclear bodies (PML-NBs); the process is independent of ATRX and facilitated by ASF1A; PML-NBs are suggested to function as regulatory sites for the incorporation of newly synthesized histone H3.3 into chromatin. In case of overexpression of centromeric histone variant CENPA (as found in various tumors) is involved in its mislocalization to chromosomes; the ectopic localization involves a heterotypic tetramer containing CENPA, and histones H3.3 and H4 and decreases binding of CTCF to chromatin. Proposed to mediate activation of the JNK pathway and apoptosis via MAP3K5 in response to signaling from TNFRSF6 and TGFBR2. Interaction with HSPB1/HSP27 may prevent interaction with TNFRSF6 and MAP3K5 and block DAXX-mediated apoptosis. In contrast, in lymphoid cells JNC activation and TNFRSF6-mediated apoptosis may not involve DAXX. Shows restriction activity towards human cytomegalovirus (HCMV). Plays a role as a positive regulator of the heat shock transcription factor HSF1 activity during the stress protein response (PubMed:15016915)., [UniProtKB, 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": 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": 41, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 22, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4E1I3;F5ANJ6;F5ANJ7;F5H082;O14747;O15141;O15208;Q5STK9;Q9BWI3", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0019899 enzyme binding;GO:0019901 protein kinase binding;GO:0042803 protein homodimerization activity;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0016604 nuclear body", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0010629 negative regulation of gene expression;GO:0006355 regulation of DNA-templated transcription;GO:0007254 JNK cascade", "synthesized_glycan_count": 0, "hit_score": 20.5, "record_id": "Q9UER7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TEK3-2", "uniprot_id": [ { "id": "DOT1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TEK3", "type": "external" } ], "mass": 164856.0, "length": 1537, "protein_name": "Histone-lysine N-methyltransferase, H3 lysine-79 specific", "gene_name": "DOT1L", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1", "refseq_ac": [ { "id": "NP_115871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115871", "type": "external" } ], "gene_names_uniprotkb": "DOT1L; KIAA1814; KMT4", "gene_names_refseq": "DOT1L; DOT1; KMT4; NDNS", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase, H3 lysine-79 specific; 2.1.1.360; DOT1-like protein; Disruptor of telomeric silencing 1-like histone lysine methyltransferase; H3-K79-HMTase; Histone H3-K79 methyltransferase; Lysine N-methyltransferase 4", "protein_names_refseq": "DOT1 like histone H3K79 methyltransferase; DOT1-like histone methyltransferase; DOT1-like protein; DOT1-like, histone H3 methyltransferase; H3-K79-HMTase; disruptor of telomeric silencing 1-like histone lysine methyltransferase; histone H3-K79 methyltransferase; histone methyltransferase DOT1L; histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1; histone-lysine N-methyltransferase, H3 lysine-79 specific; lysine N-methyltransferase 4", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); Nil-Deshwar neurodevelopmental syndrome (Disease Ontology:DOID:0070652); dilated cardiomyopathy 1A (Disease Ontology:DOID:0110425); leukemia (Disease Ontology:DOID:1240); acute biphenotypic leukemia (Disease Ontology:DOID:9953)", "pathway": " (hsa:84444); (R-HSA-3214841)", "pathway_count": 2, "publication_count": 114, "publication_id_list": "10949293;11959841;12123582;12130538;12453418;12540855;12628190;12670868;14536086;14690610;14992727;15145825;15235609;15851025;15964846;16118227;16199523;16292313;16519522;16682010;16805913;17021013;17322306;17500065;17544230;17697703;17707229;17924679;18172012;18220336;18669648;18691976;19413330;19651622;19664994;19664995;19690332;19808676;20068231;21131967;21196496;21406692;21779408;21832073;22099308;22939622;23186163;23481700;25418920;25645385;25892735;26375851;26728094;27600516;27862975;27869121;27920218;28411811;29493099;29557506;30315122;30410026;30429286;30484775;31092671;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34509645;34551297;34561969;34932366;35051231;35254053;35494241;35580925;36228153;36241641;37827158;38129415;38270553;38503750;38865244;38892207;39103111;39172790;39456056", "class_list": "", "function": "DOT1L maintains NK cell phenotype and function for optimal tumor control., [RefSeq, PubMed]; DOT1L protects against podocyte injury in diabetic kidney disease through phospholipase C-like 1. Publication Status: Online-Only, [RefSeq, PubMed]; DOT1L-mediated RAP80 methylation promotes BRCA1 recruitment to elicit DNA repair., [RefSeq, PubMed]; Distinct Responses to Menin Inhibition and Synergy with DOT1L Inhibition in KMT2A-Rearranged Acute Lymphoblastic and Myeloid Leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Histone methyltransferase that methylates 'Lys-79' of histone H3 (PubMed:12123582, PubMed:38503750, PubMed:38129415). Histones in nucleosomes are preferred as substrate compared to free histones (PubMed:12123582, PubMed:38503750). Binds to DNA (PubMed:12628190, PubMed:38503750). Together with MLLT3/AF9, is involved in SCNN1A transcriptional repression following H3K79 hypermethylation at the promoter (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Interplay between DOT1L and HDAC1 regulates Leishmania donovani infection in human THP-1 cells., [RefSeq, PubMed]; Mistargeting of hDOT1L to Hoxa9 plays an important role in MLL-AF10-mediated leukemogenesis Erratum:[Cell. 2005 Jun 3;121(5):809], [RefSeq, PubMed]; The protein encoded by this gene is a histone methyltransferase that methylates lysine-79 of histone H3. It is inactive against free core histones, but shows significant histone methyltransferase activity against nucleosomes. [provided by RefSeq, Aug 2011]., [RefSeq]", "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": 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": 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": 6, "reported_glycation": 0, "reported_snv": 73, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O60379;Q96JL1", "ec_number_list": [ { "id": "2.1.1.360", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.360", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0003676 nucleic acid binding;GO:0042054 histone methyltransferase activity;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0032991 protein-containing complex;GO:0000781 chromosome, telomeric region", "go_biological_process": "GO:0032200 telomere organization;GO:0046425 regulation of receptor signaling pathway via JAK-STAT;GO:2000677 regulation of transcription regulatory region DNA binding;GO:0031509 subtelomeric heterochromatin formation;GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q8TEK3-2", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100010001001.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16666-1", "uniprot_id": [ { "id": "IF16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16666", "type": "external" } ], "mass": 88256.0, "length": 785, "protein_name": "Gamma-interferon-inducible protein 16", "gene_name": "IFI16", "organism": "Human", "refseq_name": "gamma-interferon-inducible protein 16 isoform 1", "refseq_ac": [ { "id": "NP_001193496", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193496", "type": "external" } ], "gene_names_uniprotkb": "IFI16; IFNGIP1", "gene_names_refseq": "IFI16; IFNGIP1; PYHIN2", "protein_names_uniprotkb": "Gamma-interferon-inducible protein 16; Ifi-16; Interferon-inducible myeloid differentiation transcriptional activator", "protein_names_refseq": "gamma-interferon-inducible protein 16 isoform 1; interferon-gamma induced protein IFI 16; interferon-inducible myeloid differentiation transcriptional activator", "tax_id": 9606, "disease": "", "pathway": " (hsa:3428); (R-HSA-1834941); (R-HSA-3270619)", "pathway_count": 3, "publication_count": 160, "publication_id_list": "11035028;11115400;11146555;11237011;11839743;12133833;12692549;12894224;14654789;14654843;15210742;1526658;16281057;16306936;16920715;16964243;17483521;17526488;18559423;18669648;18818105;18991276;19307177;19433799;19608861;19690332;19776740;19926846;20068231;20388717;20890285;21098106;21170271;21397192;21573174;21575908;21813776;21892174;21947006;22046441;22291595;22394562;22483801;22579474;22618232;22619329;22691496;22705373;22728658;23027953;23142775;23186163;23222971;23258412;23258413;23481700;24198334;24275569;24366607;24413532;24531343;24560620;24714562;24715725;25114211;25218447;25418920;25576301;25645385;25772364;25810538;26154972;26375851;26728094;26758079;26929215;26992070;27397612;27600516;27655845;27846572;27862975;27893789;27920218;28228285;28446606;28510447;28514659;28832583;28834231;28855257;28860189;28904123;29242379;29493099;29508533;29557506;29632711;29741879;29769354;29786170;29789417;30104205;30315122;30410026;30429286;30484775;30524438;31020640;31092671;31154438;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33214551;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34211107;34357683;34509645;34561969;34725712;34932366;35051231;35318648;35561310;35580925;36010968;36284347;36581221;37585649;37938771;37998338;38466944;38542298;38665916;38837381;39534244;7536752;7806273;7959953;9642285;9718316;9766636", "class_list": "", "function": "Binds double-stranded DNA. Binds preferentially to supercoiled DNA and cruciform DNA structures. Seems to be involved in transcriptional regulation. May function as a transcriptional repressor. Could have a role in the regulation of hematopoietic differentiation through activation of unknown target genes. Controls cellular proliferation by modulating the functions of cell cycle regulatory factors including p53/TP53 and the retinoblastoma protein. May be involved in TP53-mediated transcriptional activation by enhancing TP53 sequence-specific DNA binding and modulating TP53 phosphorylation status. Seems to be involved in energy-level-dependent activation of the ATM/ AMPK/TP53 pathway coupled to regulation of autophagy. May be involved in regulation of TP53-mediated cell death also involving BRCA1. May be involved in the senescence of prostate epithelial cells. Involved in innate immune response by recognizing viral dsDNA in the cytosol and probably in the nucleus. After binding to viral DNA in the cytoplasm recruits TMEM173/STING and mediates the induction of IFN-beta. Has anti-inflammatory activity and inhibits the activation of the AIM2 inflammasome, probably via association with AIM2. Proposed to bind viral DNA in the nucleus, such as of Kaposi's sarcoma-associated herpesvirus, and to induce the formation of nuclear caspase-1-activating inflammasome formation via association with PYCARD. Inhibits replication of herpesviruses such as human cytomegalovirus (HCMV) probably by interfering with promoter recruitment of members of the Sp1 family of transcription factors. Necessary to activate the IRF3 signaling cascade during human herpes simplex virus 1 (HHV-1) infection and promotes the assembly of heterochromatin on herpesviral DNA and inhibition of viral immediate-early gene expression and replication. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Effects of AIM2 and IFI16 on Infectious Diseases and Inflammation. Review article, [RefSeq, PubMed]; IFI16 Induced by Direct Interaction between Esophageal Squamous Cell Carcinomas and Macrophages Promotes Tumor Progression via Secretion of IL-1alpha. Publication Status: Online-Only, [RefSeq, PubMed]; IFI16 Is Indispensable for Promoting HIF-1alpha-Mediated APOL1 Expression in Human Podocytes under Hypoxic Conditions. Publication Status: Online-Only, [RefSeq, PubMed]; IFI16 Positively Regulates RIG-I-Mediated Type I Interferon Production in a STING-Independent Manner., [RefSeq, PubMed]; Interferon-gamma inducible factor 16 (IFI16) restricts adeno-associated virus type 2 (AAV2) transduction in an immune-modulatory independent way., [RefSeq, PubMed]; Isoform that specifically inhibits the AIM2 inflammasome (PubMed:30104205). Binds double-stranded DNA (dsDNA) in the cytoplasm, impeding its detection by AIM2 (PubMed:30104205). Also prevents the interaction between AIM2 and PYCARD/ASC via its interaction with AIM2, thereby inhibiting assembly of the AIM2 inflammasome (PubMed:30104205). This isoform also weakly induce production of type I interferon-beta (IFNB1) via its interaction with STING1 (PubMed:30104205)., [UniProtKB, PubMed]; This gene encodes a member of the HIN-200 (hematopoietic interferon-inducible nuclear antigens with 200 amino acid repeats) family of cytokines. The encoded protein contains domains involved in DNA binding, transcriptional regulation, and protein-protein interactions. The protein localizes to the nucleoplasm and nucleoli, and interacts with p53 and retinoblastoma-1. It modulates p53 function, and inhibits cell growth in the Ras/Raf signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 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": 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": 20, "reported_glycation": 0, "reported_snv": 30, "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": "A0A346JEQ3;B4DJT8;H3BLV7;Q59GX0;Q5T3W7;Q5T3W8;Q5T3X0;Q5T3X1;Q5T3X2;Q8N9E5;Q8NEQ7;Q96AJ5;Q9UH78", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0008134 transcription factor binding;GO:0003690 double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006954 inflammatory response;GO:0010506 regulation of autophagy;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 16.6, "record_id": "Q16666-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06213-1", "uniprot_id": [ { "id": "INSR_HUMAN", "url": "https://www.uniprot.org/uniprot/P06213", "type": "external" } ], "mass": 156333.0, "length": 1382, "protein_name": "Insulin receptor", "gene_name": "INSR", "organism": "Human", "refseq_name": "insulin receptor isoform Long preproprotein", "refseq_ac": [ { "id": "NP_000199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000199", "type": "external" } ], "gene_names_uniprotkb": "INSR", "gene_names_refseq": "CD220; HHF5; INSR", "protein_names_uniprotkb": "Insulin receptor; 2.7.10.1; IR", "protein_names_refseq": "IR; insulin receptor isoform Long preproprotein", "tax_id": 9606, "disease": "Donohue syndrome (Disease Ontology:DOID:0050470); alcohol dependence (Disease Ontology:DOID:0050741); pre-malignant neoplasm (Disease Ontology:DOID:0060071); familial hyperinsulinemic hypoglycemia 5 (Disease Ontology:DOID:0070220); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); short bowel syndrome (Disease Ontology:DOID:10605); Alzheimer's disease (Disease Ontology:DOID:10652); gestational diabetes (Disease Ontology:DOID:11714); hepatic encephalopathy (Disease Ontology:DOID:13413); Parkinson's disease (Disease Ontology:DOID:14330); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); prostate adenocarcinoma (Disease Ontology:DOID:2526); high grade glioma (Disease Ontology:DOID:3070); choriocarcinoma (Disease Ontology:DOID:3594); glucose metabolism disease (Disease Ontology:DOID:4194); seminoma (Disease Ontology:DOID:4440); renal cell carcinoma (Disease Ontology:DOID:4450); sleep disorder (Disease Ontology:DOID:535); hepatocellular carcinoma (Disease Ontology:DOID:684); chronic kidney disease (Disease Ontology:DOID:784); diabetic retinopathy (Disease Ontology:DOID:8947); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); diabetic neuropathy (Disease Ontology:DOID:9743); obesity (Disease Ontology:DOID:9970); Rabson-Mendenhall syndrome (MONDO:MONDO:0009874); insulin-resistance syndrome type A (MONDO:MONDO:0012520)", "pathway": " (hsa:3643); (R-HSA-6811558); (R-HSA-74713); (R-HSA-74749); (R-HSA-74751); (R-HSA-74752); (R-HSA-77387)", "pathway_count": 7, "publication_count": 237, "publication_id_list": "10.1101/2023.09.13.557529;10207053;10218944;10427092;10443650;10500481;10615944;10733238;10734133;10803466;11063744;11075717;11124964;11163213;11237011;11260230;11374898;11401470;11598120;11726652;11737239;11779865;12023989;12107746;12138094;12237455;12493740;12538626;12612081;12707268;12970295;1321605;1325671;14615605;14690593;1470163;1472036;15010337;15069075;15161766;15316008;15588987;1563582;15738637;1607067;1607076;16127460;16246733;16271887;16314505;16456541;16493415;16497976;16574064;16814735;16831875;16894147;16957736;17051221;17078079;17200115;17201797;1730625;17344846;17347799;17481567;18278056;18406720;18669648;18691976;18767165;1890161;19056263;19071018;19159218;19251743;19321446;19349973;19394223;19459609;1956339;19576174;1963473;19901323;2002058;20348418;2040394;21204696;2121734;2136851;2168397;21707536;21806020;21884975;22087256;2210055;2211730;22768670;2280779;23090970;23302862;2365819;2369896;24190977;24296476;24498630;24508798;2479553;25187647;2538124;2544997;2544998;25576301;2566545;26245346;26584640;26992070;27322061;27577745;27617429;2777789;27896077;2806055;2834824;2842060;28467828;2859121;28765322;28832583;28855257;28871256;28904123;29242379;29314611;29557506;29596046;29741879;29769354;2983222;2986535;3038872;30429286;30459171;3061785;3101064;31217245;31530632;3166375;31844290;31848261;32157095;32350084;32387766;32502341;3283938;32938616;32983136;33392160;33592498;33936100;34357683;3447155;35051231;35154160;35251023;35580925;36241641;3680248;37074911;37217939;37938771;38056462;38253038;39201651;39287700;7493946;7537849;7538143;7559478;7657032;7739560;7744039;7781591;7806540;7815442;7926007;7929063;7929343;7980459;7983039;7997262;8082780;8096518;8188715;8242067;8243830;8257688;8276779;8276809;8288049;8300632;8314008;8326490;8388389;8390949;8419945;8432414;8452530;8458533;8463287;8496180;8504096;8636294;8682206;8702728;8760075;8810325;8816480;8890729;8995282;8999839;9175790;9199575;9202395;9249867;9299395;9312016;9355755;9428692;9506989;9609109;9609114;9609117;9690470;9703342;9742218;9793760", "class_list": "", "function": "Metabolic and hormonal profiling in polycystic ovarian syndrome: insights into INSR gene variations. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor tyrosine kinase which mediates the pleiotropic actions of insulin. Binding of insulin leads to phosphorylation of several intracellular substrates, including, insulin receptor substrates (IRS1, 2, 3, 4), SHC, GAB1, CBL and other signaling intermediates. Each of these phosphorylated proteins serve as docking proteins for other signaling proteins that contain Src-homology-2 domains (SH2 domain) that specifically recognize different phosphotyrosine residues, including the p85 regulatory subunit of PI3K and SHP2. Phosphorylation of IRSs proteins lead to the activation of two main signaling pathways: the PI3K-AKT/PKB pathway, which is responsible for most of the metabolic actions of insulin, and the Ras-MAPK pathway, which regulates expression of some genes and cooperates with the PI3K pathway to control cell growth and differentiation. Binding of the SH2 domains of PI3K to phosphotyrosines on IRS1 leads to the activation of PI3K and the generation of phosphatidylinositol-(3, 4, 5)-triphosphate (PIP3), a lipid second messenger, which activates several PIP3-dependent serine/threonine kinases, such as PDPK1 and subsequently AKT/PKB. The net effect of this pathway is to produce a translocation of the glucose transporter SLC2A4/GLUT4 from cytoplasmic vesicles to the cell membrane to facilitate glucose transport. Moreover, upon insulin stimulation, activated AKT/PKB is responsible for: anti-apoptotic effect of insulin by inducing phosphorylation of BAD; regulates the expression of gluconeogenic and lipogenic enzymes by controlling the activity of the winged helix or forkhead (FOX) class of transcription factors. Another pathway regulated by PI3K-AKT/PKB activation is mTORC1 signaling pathway which regulates cell growth and metabolism and integrates signals from insulin. AKT mediates insulin-stimulated protein synthesis by phosphorylating TSC2 thereby activating mTORC1 pathway. The Ras/RAF/MAP2K/MAPK pathway is mainly involved in mediating cell growth, survival and cellular differentiation of insulin. Phosphorylated IRS1 recruits GRB2/SOS complex, which triggers the activation of the Ras/RAF/MAP2K/MAPK pathway. In addition to binding insulin, the insulin receptor can bind insulin-like growth factors (IGFI and IGFII). Isoform Short has a higher affinity for IGFII binding. When present in a hybrid receptor with IGF1R, binds IGF1. PubMed:12138094 shows that hybrid receptors composed of IGF1R and INSR isoform Long are activated with a high affinity by IGF1, with low affinity by IGF2 and not significantly activated by insulin, and that hybrid receptors composed of IGF1R and INSR isoform Short are activated by IGF1, IGF2 and insulin. In contrast, PubMed:16831875 shows that hybrid receptors composed of IGF1R and INSR isoform Long and hybrid receptors composed of IGF1R and INSR isoform Short have similar binding characteristics, both bind IGF1 and have a low affinity for insulin. In adipocytes, inhibits lipolysis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Role of Vitamin D Receptor (BsmI-VDR) and Insulin Receptor (NsiI-A/G) Gene Polymorphisms in Colorectal Adenoma Susceptibility. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]., [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": 0, "mined_o_glycosites": 1, "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": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 17, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 17, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 8, "reported_phosphosites": 32, "reported_mutagensis": 24, "reported_glycation": 0, "reported_snv": 91, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 83, "disease_count": 29, "glyco_site_count": 25, "binding_glycan_count": 0, "secondary_ac_list": "Q17RW0;Q59H98;Q9UCB7;Q9UCB8;Q9UCB9", "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": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "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": "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" } ], "go_molecular_function": "GO:0005009 insulin receptor activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0019904 protein domain specific binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon;GO:0043235 receptor complex;GO:0070062 extracellular exosome", "go_biological_process": "GO:0051446 positive regulation of meiotic cell cycle;GO:2000194 regulation of female gonad development;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007612 learning;GO:0007613 memory", "synthesized_glycan_count": 0, "hit_score": 34.4, "record_id": "P06213-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100010010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BY66-1", "uniprot_id": [ { "id": "KDM5D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BY66", "type": "external" } ], "mass": 174073.0, "length": 1539, "protein_name": "Lysine-specific demethylase 5D", "gene_name": "KDM5D", "organism": "Human", "refseq_name": "lysine-specific demethylase 5D isoform 1", "refseq_ac": [ { "id": "NP_001140177", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001140177", "type": "external" } ], "gene_names_uniprotkb": "KDM5D; HYA; HY; JARID1D; KIAA0234; SMCY", "gene_names_refseq": "HYA; HY; JARID1D; KDM5D; SMCY", "protein_names_uniprotkb": "Lysine-specific demethylase 5D; 1.14.11.67; H-Y; Histocompatibility Y antigen; Histone demethylase JARID1D; Jumonji/ARID domain-containing protein 1D; Protein SmcY; [histone H3]-trimethyl-L-lysine(4) demethylase 5D", "protein_names_refseq": "H-Y; Jumonji, AT rich interactive domain 1D (RBP2-like); SMC homolog, Y chromosome; Smcy homolog, Y-linked; [histone H3]-trimethyl-L-lysine(4) demethylase 5D; epididymis secretory sperm binding protein; histocompatibility Y antigen; histone demethylase JARID1D; jumonji/ARID domain-containing protein 1D; lysine (K)-specific demethylase 5D; lysine-specific demethylase 5D isoform 1; protein SmcY; selected mouse cDNA on Y, human homolog of", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); autism spectrum disorder (Disease Ontology:DOID:0060041); syndromic X-linked intellectual disability Claes-Jensen type (Disease Ontology:DOID:0060809); intellectual disability (Disease Ontology:DOID:1059); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:8284); (R-HSA-3214842)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "10395333;10861003;11237011;12601144;12649154;14592836;14973499;15322566;15620353;16237088;16362057;16603237;16603238;16732292;16732293;16738407;16988213;17241921;17310255;17320160;17320162;17320163;17351630;17351631;17713478;17947579;18401420;18459961;19502796;19727073;19843542;20023638;20084082;20129925;20160060;20208542;20457893;20622853;20622854;21532585;21850230;22544926;22615488;22627770;22685312;23022467;23481700;24582729;24715725;25576301;25645385;25992863;26154972;26747897;26992070;27185910;27427228;27477906;27846572;27920218;28832583;28904123;29242379;29393594;29508533;29557506;29563586;30053426;30315122;30429286;30779550;30833945;31154438;31530632;31844290;31998317;32161166;32265295;32387766;32502341;32732223;32983136;33040644;33141586;33592498;34127738;34171305;34211107;34509645;34688635;35051231;35494241;37344599;7667640;8841177;9060413;9075928;9798702", "class_list": "", "function": "Histone demethylase KDM5D upregulation drives sex differences in colon cancer., [RefSeq, PubMed]; Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. May play a role in spermatogenesis. Involved in transcriptional repression of diverse metastasis-associated genes; in this function seems to cooperate with ZMYND8. Suppresses prostate cancer cell invasion. Regulates androgen receptor (AR) transcriptional activity by demethylating H3K4me3 active transcription marks., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Increased Expression of Y-Encoded Demethylases During Differentiation of Human Male Neural Stem Cells., [RefSeq, PubMed]; KDM5D inhibits the transcriptional activation of FKBP4 by suppressing the expression of E2F1 in colorectal cancer in males., [RefSeq, PubMed]; This gene encodes a protein containing zinc finger domains. A short peptide derived from this protein is a minor histocompatibility antigen which can lead to graft rejection of male donor cells in a female recipient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]., [RefSeq]; X- and Y-Linked Chromatin-Modifying Genes as Regulators of Sex-Specific Cancer Incidence and Prognosis. Review article, [RefSeq, PubMed]; Y disruption, autosomal hypomethylation and poor male lung cancer survival. 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": 2, "reported_glycation": 0, "reported_snv": 0, "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": "A2RU19;A6H8V7;B7ZLX1;Q92509;Q92809;Q9HCU1", "ec_number_list": [ { "id": "1.14.11.67", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.67", "type": "external" } ], "go_molecular_function": "GO:0034647 histone H3K4me/H3K4me2/H3K4me3 demethylase activity;GO:0032453 histone H3K4 demethylase activity;GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0050681 nuclear androgen receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0060765 regulation of androgen receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q9BY66-1", "record_type": "protein", "filter_code": "0000000.0100111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y252-1", "uniprot_id": [ { "id": "RNF6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y252", "type": "external" } ], "mass": 78091.0, "length": 685, "protein_name": "E3 ubiquitin-protein ligase RNF6", "gene_name": "RNF6", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF6 isoform 1", "refseq_ac": [ { "id": "NP_005968", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005968", "type": "external" } ], "gene_names_uniprotkb": "RNF6; SPG2", "gene_names_refseq": "RNF6", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF6; 2.3.2.27", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF6 isoform 1; E3 ubiquitin-protein ligase RNF6; RING-H2 protein RNF-6; RING-type E3 ubiquitin transferase RNF6; ring finger protein (C3H2C3 type) 6", "tax_id": 9606, "disease": "squamous cell carcinoma (Disease Ontology:DOID:1749); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); esophageal cancer (Disease Ontology:DOID:5041); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:6049); (R-HSA-983168)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10.1101/2023.09.13.557529;10331950;11062501;11350924;11971979;12154016;12646216;14734113;15224091;15224092;15571818;16204183;16595681;16849449;16954532;18368307;18662542;19028597;19345326;19352404;19452197;19489725;19851334;19874575;19940261;2261476;26024233;26992070;27846572;28228285;28514659;28832583;28904123;29242379;29437277;29493099;29557506;30410026;30429286;31092671;31154438;31530632;31844290;31848261;32157095;32387766;32488085;32502341;32938616;32983136;33298915;33592498;33912179;34087483;34171305;34509645;34611311;35051231;35278611;35318648;35369571;35561310;35580925;35973638;36010968;38072302;9380723;9668046", "class_list": "", "function": "E3 ubiquitin ligase RNF6 promotes antiviral immune responses through enhancing the expression of interferon stimulated genes in myeloid cells., [RefSeq, PubMed]; E3 ubiquitin-protein ligase mediating 'Lys-48'-linked polyubiquitination of LIMK1 and its subsequent targeting to the proteasome for degradation (By similarity). Negatively regulates axonal outgrowth through regulation of the LIMK1 turnover (By similarity). Mediates 'Lys-6' and 'Lys-27'-linked polyubiquitination of AR/androgen receptor thereby modulating its transcriptional activity (PubMed:19345326). May also bind DNA and function as a transcriptional regulator (By similarity). Mediates polyubiquitination of QKI in macrophages, leading to its degradation (By similarity)., [UniProtKB, PubMed, UniProtKB]; Functional anaylysis of the mouse homolog, [RefSeq, PubMed]; Non-adherent culture method affects the proliferation and apoptosis of mesenchymal stem cells through inhibiting LINC00707 to promote RNF6-mediated QKI ubiquitination., [RefSeq, PubMed]; RING-Finger Protein 6 promotes Drug Resistance in Retinoblastoma via JAK2/STAT3 Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; RING-finger protein 6 promotes colorectal tumorigenesis by transcriptionally activating SF3B2., [RefSeq, PubMed]; Results describe thet cloning and identification of a novel RNF6 transcriptional splice variant, Spg2, in human development., [RefSeq, PubMed]; Ring finger protein 6 enhances chemo-resistance by transcriptionally activating proliferating cell nuclear antigen expression and attenuating DNA damage in lung adenocarcinoma., [RefSeq, PubMed]; Rnf6 controls cellular LIMK1 concentrations and indicate a new function for the ubiquitin/proteasome system in regulating local growth cone actin dynamics Erratum:[Genes Dev. 2005 Nov 1;19(21):2643], [RefSeq, PubMed]; The protein encoded by this gene contains a RING-H2 finger motif. Deletions and mutations in this gene were detected in esophageal squamous cell carcinoma (ESCC), suggesting that this protein may be a potential tumor suppressor. Studies of the mouse counterpart suggested a role of this protein in the transcription regulation that controls germinal differentiation. Multiple alternatively spliced transcript variants encoding the same protein are 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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 9671, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DDP0;Q5W0H0;Q9BZP5;Q9UF41", "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:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity;GO:0050681 nuclear androgen receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0030424 axon;GO:0031965 nuclear membrane;GO:0016605 PML body", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0060765 regulation of androgen receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9Y252-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULZ2-1", "uniprot_id": [ { "id": "STAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULZ2", "type": "external" } ], "mass": 34291.0, "length": 295, "protein_name": "Signal-transducing adaptor protein 1", "gene_name": "STAP1", "organism": "Human", "refseq_name": "signal-transducing adaptor protein 1", "refseq_ac": [ { "id": "NP_001304698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304698", "type": "external" } ], "gene_names_uniprotkb": "STAP1; BRDG1", "gene_names_refseq": "BRDG1; STAP-1; STAP1", "protein_names_uniprotkb": "Signal-transducing adaptor protein 1; BCR downstream-signaling protein 1; Docking protein BRDG1; STAP-1; Stem cell adaptor protein 1", "protein_names_refseq": "BCR downstream-signaling protein 1; docking protein BRDG1; signal-transducing adaptor protein 1; stem cell adaptor protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:26228)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "10518561;17936702;25035151;26992070;27846572;27920218;28832583;28834231;29242379;29393594;29493099;29557506;29632046;29632711;29786170;31020640;32350084;32357974;32502341;32983136;33717175;33936100;34780812;34932366;35051231;35561310;35580925;36713363;37526444", "class_list": "", "function": "Diagnostic and prognostic value of STAP1 and AHNAK methylation in peripheral blood immune cells for HBV-related hepatopathy. Publication Status: Online-Only, [RefSeq, PubMed]; In BCR signaling, appears to function as a docking protein acting downstream of TEC and participates in a positive feedback loop by increasing the activity of TEC., [UniProtKB, PubMed]; Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia., [RefSeq, PubMed]; Relationship between STAP1 methylation in peripheral blood T cells and the clinicopathological characteristics and prognosis of patients within 5-cm diameter HCC., [RefSeq, PubMed]; Signal-transducing adaptor protein-1 and protein-2 in hematopoiesis and diseases. Review article, [RefSeq, PubMed]; The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This protein is a substrate of tyrosine-protein kinase Tec, and its interaction with tyrosine-protein kinase Tec is phosphorylation-dependent. This protein is thought to participate in a positive feedback loop by upregulating the activity of tyrosine-protein kinase Tec. Variants of this gene have been associated with autosomal-dominant hypercholesterolemia (ADH), which is characterized by elevated low-density lipoprotein cholesterol levels and in increased risk of coronary vascular disease. 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R980", "ec_number_list": [], "go_molecular_function": "GO:0005157 macrophage colony-stimulating factor receptor binding;GO:0001784 phosphotyrosine residue binding;GO:0005543 phospholipid binding;GO:0019901 protein kinase binding;GO:0030296 protein tyrosine kinase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0016604 nuclear body", "go_biological_process": "GO:1900028 negative regulation of ruffle assembly;GO:1904140 negative regulation of microglial cell migration;GO:1904151 positive regulation of microglial cell mediated cytotoxicity;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9ULZ2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBL0-3", "uniprot_id": [ { "id": "TENS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBL0", "type": "external" } ], "mass": 197023.0, "length": 1839, "protein_name": "Tensin-1", "gene_name": "TNS1", "organism": "Human", "refseq_name": "tensin-1 isoform 2", "refseq_ac": [ { "id": "NP_001294951", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294951", "type": "external" } ], "gene_names_uniprotkb": "TNS1; TNS", "gene_names_refseq": "MST091; MST122; MST127; MSTP091; MSTP122; MSTP127; MXRA6; PPP1R155; TNS1; TNS", "protein_names_uniprotkb": "Tensin-1; 3.1.3.-", "protein_names_refseq": "Matrix-remodelling-associated protein 6; matrix-remodelling associated 6; protein phosphatase 1, regulatory subunit 155; tensin-1 isoform 2", "tax_id": 9606, "disease": "chronic obstructive pulmonary disease (Disease Ontology:DOID:3083)", "pathway": " (hsa:7145)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11023826;14991332;16953426;16959974;17074750;17517630;18088087;18220336;18669648;18991276;19826001;20068231;20069572;20798394;21768292;23186163;24275569;25576301;25645385;26427649;26768311;28005397;28657654;30379171;33214551;34019948;34086412;35037949;35954177;36581942;37712764;37938771;38253038;38665916;40596516", "class_list": "", "function": "LncRNA ZNRD1-AS1 promotes malignant lung cell proliferation, migration, and angiogenesis via the miR-942/TNS1 axis and is positively regulated by the m[6]A reader YTHDC2. Publication Status: Online-Only, [RefSeq, PubMed]; May act as a protein phosphatase and/or a lipid phosphatase (Probable). Involved in fibrillar adhesion formation (PubMed:21768292, PubMed:28005397). Essential for myofibroblast differentiation and myofibroblast-mediated extracellular matrix deposition (PubMed:28005397). Enhances RHOA activation in the presence of DLC1 (PubMed:26427649). Plays a role in cell polarization and migration (PubMed:19826001). May be involved in cartilage development and in linking signal transduction pathways to the cytoskeleton (PubMed:21768292)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; MiR-31-5p modulates cell progression in lung adenocarcinoma through TNS1/p53 axis., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Tensin 1 (TNS1) is a modifier gene for low body mass index (BMI) in homozygous [F508del]CFTR patients., [RefSeq, PubMed]; Tensin 1 regulated by hepatic leukemia factor represses the progression of prostate cancer., [RefSeq, PubMed]; Tensin Regulates Fundamental Biological Processes by Interacting with Integrins of Tonsil-Derived Mesenchymal Stem Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Tensin may play important roles in mesangial ECM production through an adhesion complex with integrin alpha5, FAK, and vinculin., [RefSeq, PubMed]; The protein encoded by this gene localizes to focal adhesions, regions of the plasma membrane where the cell attaches to the extracellular matrix. This protein crosslinks actin filaments and contains a Src homology 2 (SH2) domain, which is often found in molecules involved in signal transduction. This protein is a substrate of calpain II. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]., [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": 2, "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": 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": 31, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 42, "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": "A0A804HI61;Q4ZG71;Q6IPI5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003779 actin binding;GO:0008270 zinc ion binding;GO:0004721 phosphoprotein phosphatase activity", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0005925 focal adhesion;GO:0009986 cell surface", "go_biological_process": "GO:0010761 fibroblast migration", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9HBL0-3", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H609-1", "uniprot_id": [ { "id": "ZN576_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H609", "type": "external" } ], "mass": 18890.0, "length": 170, "protein_name": "Zinc finger protein 576", "gene_name": "ZNF576", "organism": "Human", "refseq_name": "zinc finger protein 576", "refseq_ac": [ { "id": "NP_001138819", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138819", "type": "external" } ], "gene_names_uniprotkb": "ZNF576", "gene_names_refseq": "ZNF576", "protein_names_uniprotkb": "Zinc finger protein 576", "protein_names_refseq": "zinc finger protein 576", "tax_id": 9606, "disease": "", "pathway": " (hsa:79177)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "17081983;29242379;29557506;31844290;32502341;33717175;37217939", "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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q9BU03", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;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": 1.0, "record_id": "Q9H609-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UM73-1", "uniprot_id": [ { "id": "ALK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UM73", "type": "external" } ], "mass": 176442.0, "length": 1620, "protein_name": "ALK tyrosine kinase receptor", "gene_name": "ALK", "organism": "Human", "refseq_name": "ALK tyrosine kinase receptor isoform 1 precursor", "refseq_ac": [ { "id": "NP_004295", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004295", "type": "external" } ], "gene_names_uniprotkb": "ALK", "gene_names_refseq": "ALK1; ALK; CD246; NBLST3", "protein_names_uniprotkb": "ALK tyrosine kinase receptor; 2.7.10.1; Anaplastic lymphoma kinase", "protein_names_refseq": "ALK tyrosine kinase receptor isoform 1 precursor; ALK tyrosine kinase receptor; CD246 antigen; anaplastic lymphoma receptor tyrosine kinase; mutant anaplastic lymphoma kinase", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); cancer (Disease Ontology:DOID:162); neuroblastoma (Disease Ontology:DOID:769); neuroblastoma, susceptibility to, 3 (MONDO:MONDO:0013083)", "pathway": " (hsa:238); (R-HSA-201556); (R-HSA-9700645); (R-HSA-9717264); (R-HSA-9717301); (R-HSA-9717316); (R-HSA-9717319); (R-HSA-9717323); (R-HSA-9717326); (R-HSA-9717329); (R-HSA-9725370); (R-HSA-9851151)", "pathway_count": 12, "publication_count": 241, "publication_id_list": "10212223;10216106;10556217;10702393;10706082;10706887;10934142;11110708;11121404;11237011;11278720;11280786;11310834;11387242;11504915;11607835;11751994;11809760;11850821;11943732;11988758;12107166;12112524;12122009;12185581;12424201;12750159;12800156;12920229;12934099;14506160;14563642;14962911;15169778;15208656;15226403;15317731;15374880;15588951;15592455;15895073;15908427;15938644;16153455;16161041;16170336;16317043;16565220;16814777;16825495;16871283;16878150;16939498;17086210;17185414;17274988;17344846;17353907;17416736;17483340;17625570;17681947;17998938;18070884;18083107;18097461;18452557;18593892;18594010;18701132;18724359;18923523;18923524;18923525;18990089;19456272;19459784;19664994;20454865;20632993;20695522;20719933;20979473;21030459;21134980;21154129;21164297;21213368;21242967;21297104;21345110;21415216;21494621;21502504;21575866;21596819;21656749;21791641;21804922;21838707;21847362;21948233;22085494;22162641;22235099;22249260;22277784;22286764;22327622;22347464;22439933;22570254;22588779;22658521;22932897;22992069;23104988;23139213;23201355;23239810;23307059;23344087;23434628;23661334;23777859;23889739;23957430;24060861;24356251;24445538;24475247;24496003;24509625;24518094;24613930;24670165;24675041;24736079;24736082;24947326;25228534;25331893;25342631;25346125;25393796;25393798;25421750;25605972;25727400;25736571;25813404;25921060;26001147;26062823;26301689;26418745;26444240;26464158;26568289;26579422;26616860;26630010;26708155;26775591;26896299;26939704;27009859;27014917;27045755;27130468;27179218;27245569;27432227;27445335;27573755;27655666;27780853;27874193;27888620;28030793;28245558;28254787;28285684;28404650;28510447;28622610;28659337;28676215;28741662;29091425;29109998;29242379;29380702;29455642;29515255;29559559;29648831;29650534;29755689;29785088;29873274;29877262;29907598;29964125;29978950;30004444;30061385;30089600;30131584;30675302;30683630;30692217;31334113;31366041;31374369;31388026;31585938;31616196;31668326;31712133;31749991;31852910;31943796;32157095;32344689;32387766;33411331;34270745;34646012;34819673;35051231;38941542;39103263;39259069;39488530;7824924;8122112;8633037;9053841;9174053;9819383", "class_list": "", "function": "Findings suggest a novel mechanism of oncogene activation in cancer through de novo alternative transcription initiation, such as for ALK, [RefSeq, PubMed]; Mucinous epidermoid carcinoma of the lung with ALK mutation: Case report and literature review. Review article, [RefSeq, PubMed]; Neuronal receptor tyrosine kinase that is essentially and transiently expressed in specific regions of the central and peripheral nervous systems and plays an important role in the genesis and differentiation of the nervous system (PubMed:11121404, PubMed:11387242, PubMed:16317043, PubMed:17274988, PubMed:30061385, PubMed:34646012, PubMed:34819673). Also acts as a key thinness protein involved in the resistance to weight gain: in hypothalamic neurons, controls energy expenditure acting as a negative regulator of white adipose tissue lipolysis and sympathetic tone to fine-tune energy homeostasis (By similarity). Following activation by ALKAL2 ligand at the cell surface, transduces an extracellular signal into an intracellular response (PubMed:30061385, PubMed:33411331, PubMed:34646012, PubMed:34819673). In contrast, ALKAL1 is not a potent physiological ligand for ALK (PubMed:34646012). Ligand-binding to the extracellular domain induces tyrosine kinase activation, leading to activation of the mitogen-activated protein kinase (MAPK) pathway (PubMed:34819673). Phosphorylates almost exclusively at the first tyrosine of the Y-x-x-x-Y-Y motif (PubMed:15226403, PubMed:16878150). Induces tyrosine phosphorylation of CBL, FRS2, IRS1 and SHC1, as well as of the MAP kinases MAPK1/ERK2 and MAPK3/ERK1 (PubMed:15226403, PubMed:16878150). ALK activation may also be regulated by pleiotrophin (PTN) and midkine (MDK) (PubMed:11278720, PubMed:11809760, PubMed:12107166, PubMed:12122009). PTN-binding induces MAPK pathway activation, which is important for the anti-apoptotic signaling of PTN and regulation of cell proliferation (PubMed:11278720, PubMed:11809760, PubMed:12107166). MDK-binding induces phosphorylation of the ALK target insulin receptor substrate (IRS1), activates mitogen-activated protein kinases (MAPKs) and PI3-kinase, resulting also in cell proliferation induction (PubMed:12122009). Drives NF-kappa-B activation, probably through IRS1 and the activation of the AKT serine/threonine kinase (PubMed:15226403, PubMed:16878150). Recruitment of IRS1 to activated ALK and the activation of NF-kappa-B are essential for the autocrine growth and survival signaling of MDK (PubMed:15226403, PubMed:16878150). May function as regulator of gastric epithelial differentiation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Oncogenic EML4-ALK assemblies suppress growth factor perception and modulate drug tolerance. Publication Status: Online-Only, [RefSeq, PubMed]; Spitz Melanoma With SLC20A1::ALK Fusion: A Novel Fusion Previously Undescribed in Spitz Melanocytic Neoplasm., [RefSeq, PubMed]; This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]., [RefSeq]; [ALK rearranged Spitz melanocytoma: a clinicopathological and molecular genetic analysis of two cases]., [RefSeq, PubMed]", "predicted_glycosites": 12, "predicted_n_glycosites": 10, "predicted_o_glycosites": 2, "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": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "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": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 258, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "A6P4T4;A6P4V4;Q4ZFX9;Q53QQ6;Q53RZ4;Q59FI3;Q9Y4K6", "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": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "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": "3.1.3.48", "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": "2.7.1.153", "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" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" } ], "go_molecular_function": "GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0008201 heparin binding;GO:0042802 identical protein binding;GO:0030298 receptor signaling protein tyrosine kinase activator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0070062 extracellular exosome;GO:0032991 protein-containing complex", "go_biological_process": "GO:0007165 signal transduction;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0038083 peptidyl-tyrosine autophosphorylation;GO:0042127 regulation of cell population proliferation;GO:0050995 negative regulation of lipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 25.0, "record_id": "Q9UM73-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100010011001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16665-1", "uniprot_id": [ { "id": "HIF1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16665", "type": "external" } ], "mass": 92670.0, "length": 826, "protein_name": "Hypoxia-inducible factor 1-alpha", "gene_name": "HIF1A", "organism": "Human", "refseq_name": "hypoxia-inducible factor 1-alpha isoform 3", "refseq_ac": [ { "id": "NP_001230013", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230013", "type": "external" } ], "gene_names_uniprotkb": "HIF1A; BHLHE78; MOP1; PASD8", "gene_names_refseq": "HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1-ALPHA; HIF1A; HIF1; MOP1; PASD8; bHLHe78", "protein_names_uniprotkb": "Hypoxia-inducible factor 1-alpha; ARNT-interacting protein; Basic-helix-loop-helix-PAS protein MOP1; Class E basic helix-loop-helix protein 78; HIF-1-alpha; HIF1-alpha; Member of PAS protein 1; PAS domain-containing protein 8; bHLHe78", "protein_names_refseq": "ARNT interacting protein; PAS domain-containing protein 8; basic-helix-loop-helix-PAS protein MOP1; class E basic helix-loop-helix protein 78; hypoxia inducible factor 1 alpha subunit; hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor); hypoxia-inducible factor 1-alpha isoform 3; hypoxia-inducible factor 1-alpha; hypoxia-inducible factor1alpha; member of PAS protein 1; member of PAS superfamily 1", "tax_id": 9606, "disease": "limb ischemia (Disease Ontology:DOID:0050852); ductal carcinoma in situ (Disease Ontology:DOID:0060074); atrial fibrillation (Disease Ontology:DOID:0060224); alcohol-associated liver disease (Disease Ontology:DOID:0070658); 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); kidney failure (Disease Ontology:DOID:1074); hypertension (Disease Ontology:DOID:10763); cholesteatoma of middle ear (Disease Ontology:DOID:10964); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); glycogen storage disease VII (Disease Ontology:DOID:11721); morbid obesity (Disease Ontology:DOID:11981); varicocele (Disease Ontology:DOID:12337); retinal ischemia (Disease Ontology:DOID:12510); hepatic encephalopathy (Disease Ontology:DOID:13413); bladder neck obstruction (Disease Ontology:DOID:13948); interstitial cystitis (Disease Ontology:DOID:13949); cancer (Disease Ontology:DOID:162); nephroblastoma (Disease Ontology:DOID:2154); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); ovarian cancer (Disease Ontology:DOID:2394); glycogen storage disease V (Disease Ontology:DOID:2746); invasive ductal carcinoma (Disease Ontology:DOID:3008); acute kidney failure (Disease Ontology:DOID:3021); brain infarction (Disease Ontology:DOID:3454); middle cerebral artery infarction (Disease Ontology:DOID:3525); cerebral infarction (Disease Ontology:DOID:3526); olfactory neuroblastoma (Disease Ontology:DOID:369); lung non-small cell carcinoma (Disease Ontology:DOID:3908); macular retinal edema (Disease Ontology:DOID:4449); renal cell carcinoma (Disease Ontology:DOID:4450); proteinuria (Disease Ontology:DOID:576); 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); rheumatoid arthritis (Disease Ontology:DOID:7148); osteoarthritis (Disease Ontology:DOID:8398); mycosis fungoides (Disease Ontology:DOID:8691); decubitus ulcer (Disease Ontology:DOID:8717); psoriasis (Disease Ontology:DOID:8893); skin melanoma (Disease Ontology:DOID:8923); 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:3091); (R-HSA-1234158); (R-HSA-1234174); (R-HSA-1234176); (R-HSA-2122947); (R-HSA-5689880); (R-HSA-6785807); (R-HSA-8849473); (R-HSA-8857538); (R-HSA-8951664); (R-HSA-9701898); (R-HSA-9909649)", "pathway_count": 12, "publication_count": 512, "publication_id_list": 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"class_list": "", "function": "(Microbial infection) Upon infection by human coronavirus SARS-CoV-2, is required for induction of glycolysis in monocytes and the consequent pro-inflammatory state (PubMed:32697943). In monocytes, induces expression of ACE2 and cytokines such as IL1B, TNF, IL6, and interferons (PubMed:32697943). Promotes human coronavirus SARS-CoV-2 replication and monocyte inflammatory response (PubMed:32697943)., [UniProtKB, PubMed]; Beta2-integrins control HIF1alpha activation in human neutrophils. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a master transcriptional regulator of the adaptive response to hypoxia (PubMed:11292861, PubMed:11566883, PubMed:15465032, PubMed:16973622, PubMed:17610843, PubMed:18658046, PubMed:20624928, PubMed:22009797, PubMed:30125331, PubMed:9887100). Under hypoxic conditions, activates the transcription of over 40 genes, including erythropoietin, glucose transporters, glycolytic enzymes, vascular endothelial growth factor, HILPDA, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia (PubMed:11292861, PubMed:11566883, PubMed:15465032, PubMed:16973622, PubMed:17610843, PubMed:20624928, PubMed:22009797, PubMed:30125331, PubMed:9887100). Plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease (PubMed:22009797). Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Activation requires recruitment of transcriptional coactivators such as CREBBP and EP300 (PubMed:16543236, PubMed:9887100). Activity is enhanced by interaction with NCOA1 and/or NCOA2 (PubMed:10594042). Interaction with redox regulatory protein APEX1 seems to activate CTAD and potentiates activation by NCOA1 and CREBBP (PubMed:10202154, PubMed:10594042). Involved in the axonal distribution and transport of mitochondria in neurons during hypoxia (PubMed:19528298)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; HIF-1alpha Activates Hypoxia-Induced MXRA5 Expression in the Progression of Ovarian Cancer., [RefSeq, PubMed]; Impact of Hypoxia and the Levels of Transcription Factor HIF-1alpha and JMJD1A on Epithelial-Mesenchymal Transition in Head and Neck Squamous Cell Carcinoma Cell Lines., [RefSeq, PubMed]; Pilot Study on the Effect of Patient Condition and Clinical Parameters on Hypoxia-Induced Factor Expression: HIF1A, EPAS1 and HIF3A in Human Colostrum Cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of cellular and systemic homeostatic response to hypoxia by activating transcription of many genes, including those involved in energy metabolism, angiogenesis, apoptosis, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. HIF-1 thus plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Alternatively spliced transcript variants encoding different isoforms have been identified 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": 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": 26, "reported_mutagensis": 29, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 50, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "C0LZJ3;Q53XP6;Q96PT9;Q9UPB1", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0019899 enzyme binding;GO:0019901 protein kinase binding;GO:0019904 protein domain specific binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:1903427 negative regulation of reactive oxygen species biosynthetic process;GO:0006110 regulation of glycolytic process;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 51.7, "record_id": "Q16665-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96Q42-1", "uniprot_id": [ { "id": "ALS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96Q42", "type": "external" } ], "mass": 183634.0, "length": 1657, "protein_name": "Alsin", "gene_name": "ALS2", "organism": "Human", "refseq_name": "alsin isoform 2", "refseq_ac": [ { "id": "NP_001129217", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129217", "type": "external" } ], "gene_names_uniprotkb": "ALS2; ALS2CR6; KIAA1563", "gene_names_refseq": "ALS2CR6; ALS2; ALSJ; IAHSP; PLSJ", "protein_names_uniprotkb": "Alsin; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein; Amyotrophic lateral sclerosis 2 protein", "protein_names_refseq": "ALS2, alsin Rho guanine nucleotide exchange factor; alsin isoform 2; alsin; amyotrophic lateral sclerosis 2 (juvenile); amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein; amyotrophic lateral sclerosis 2 protein", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 2 (Disease Ontology:DOID:0060194); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); juvenile primary lateral sclerosis (MONDO:MONDO:0011663); infantile-onset ascending hereditary spastic paralysis (MONDO:MONDO:0011797)", "pathway": " (hsa:57679); (R-HSA-8876198); (R-HSA-9013149)", "pathway_count": 3, "publication_count": 459, "publication_id_list": 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"class_list": "", "function": "Conformational Dynamics and Molecular Characterization of Alsin MORN Monomer and Dimeric Assemblies., [RefSeq, PubMed]; May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity)., [UniProtKB]; May act as a GTPase regulator. Controls survival and growth of spinal motoneurons., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]., [RefSeq]; 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": 10, "reported_mutagensis": 0, "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": "Q53TT1;Q53TV2;Q8N1E0;Q96PC4;Q96Q41;Q9H973;Q9HCK9", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005813 centrosome", "go_biological_process": "GO:0043547 positive regulation of GTPase activity;GO:0051260 protein homooligomerization;GO:0045860 positive regulation of protein kinase activity;GO:0048812 neuron projection morphogenesis;GO:0007032 endosome organization", "synthesized_glycan_count": 0, "hit_score": 46.2, "record_id": "Q96Q42-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NS38-1", "uniprot_id": [ { "id": "ALKB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NS38", "type": "external" } ], "mass": 29322.0, "length": 261, "protein_name": "DNA oxidative demethylase ALKBH2", "gene_name": "ALKBH2", "organism": "Human", "refseq_name": "DNA oxidative demethylase ALKBH2 isoform 1", "refseq_ac": [ { "id": "NP_001001655", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001655", "type": "external" } ], "gene_names_uniprotkb": "ALKBH2; ABH2", "gene_names_refseq": "ABH2; ALKBH2", "protein_names_uniprotkb": "DNA oxidative demethylase ALKBH2; 1.14.11.33; Alkylated DNA repair protein alkB homolog 2; Alpha-ketoglutarate-dependent dioxygenase alkB homolog 2; Oxy DC1", "protein_names_refseq": "2OG-Fe(II) oxy DC1; DNA oxidative demethylase ALKBH2 isoform 1; DNA oxidative demethylase ALKBH2; alkB, alkylation repair homolog 2; alkylated DNA repair protein alkB homolog 2; alpha-ketoglutarate-dependent dioxygenase alkB homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:121642); (R-HSA-112122)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "11237011;12486230;12594517;16174769;17979886;18270339;18432238;18519673;19736315;20068231;20223766;20714506;22659876;23972994;25797601;26408825;28228285;28832583;28834231;29242379;29769354;30315122;30833945;31530632;31844290;32157095;32488085;32502341;32938616;33161373;33298915;33302959;33717175;33912179;33936100;33968037;33981976;34171305;34561969;34932366;35051231;35580925;35956910;36010968;36241641;37508504;37938771;38253038", "class_list": "", "function": "ALKBH2 inhibition alleviates malignancy in colorectal cancer by regulating BMI1-mediated activation of NF-kappaB pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Conformational Dynamics of Human ALKBH2 Dioxygenase in the Course of DNA Repair as Revealed by Stopped-Flow Fluorescence Spectroscopy. Publication Status: Online-Only, [RefSeq, PubMed]; Dioxygenase that repairs alkylated nucleic acid bases by direct reversal oxidative dealkylation. Can process both double-stranded (ds) and single-stranded (ss) DNA substrates, with a strong preference for dsDNA (PubMed:12486230, PubMed:12594517, PubMed:16174769, PubMed:20714506, PubMed:23972994, PubMed:25797601). Uses molecular oxygen, 2-oxoglutarate and iron as cofactors to oxidize the alkyl groups that are subsequently released as aldehydes, regenerating the undamaged bases. Probes the base pair stability, locates a weakened base pair and flips the damaged base to accommodate the lesion in its active site for efficient catalysis (PubMed:18432238, PubMed:22659876). Repairs monoalkylated bases, specifically N1-methyladenine and N3-methylcytosine, as well as higher order alkyl adducts such as bases modified with exocyclic bridged adducts known as etheno adducts including 1,N6-ethenoadenine, 3,N4-ethenocytosine and 1,N2-ethenoguanine (PubMed:12486230, PubMed:12594517, PubMed:16174769, PubMed:20714506, PubMed:23972994, PubMed:25797601, PubMed:26408825). Acts as a gatekeeper of genomic integrity under alkylation stress. Efficiently repairs alkylated lesions in ribosomal DNA (rDNA). These lesions can cause ss- and dsDNA strand breaks that severely impair rDNA transcription (PubMed:23972994). In a response mechanism to DNA damage, associates with PCNA at replication forks to repair alkylated adducts prior to replication (PubMed:19736315, PubMed:26408825)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; First crystal structure of ABH2, [RefSeq, PubMed]; Individual Contributions of Amido Acid Residues Tyr122, Ile168, and Asp173 to the Activity and Substrate Specificity of Human DNA Dioxygenase ABH2. Publication Status: Online-Only, [RefSeq, PubMed]; Insights into the Direct Oxidative Repair of Etheno Lesions: MD and QM/MM Study on the Substrate Scope of ALKBH2 and AlkB., [RefSeq, PubMed]; Observational study and meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 and ALKBH3 (MIM 610603) are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A4PET2;Q5XLE3", "ec_number_list": [ { "id": "1.14.11.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.51", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "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": "1.14.11.54", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.54", "type": "external" } ], "go_molecular_function": "GO:0008198 ferrous iron binding;GO:0051747 cytosine C-5 DNA demethylase activity;GO:0000182 rDNA binding;GO:0035516 broad specificity oxidative DNA demethylase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0006307 DNA alkylation repair;GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q6NS38-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2TAC2-1", "uniprot_id": [ { "id": "CCD57_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2TAC2", "type": "external" } ], "mass": 103039.0, "length": 915, "protein_name": "Coiled-coil domain-containing protein 57", "gene_name": "CCDC57", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 57 isoform 2", "refseq_ac": [ { "id": "NP_001303250", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303250", "type": "external" } ], "gene_names_uniprotkb": "CCDC57", "gene_names_refseq": "CCDC57", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 57", "protein_names_refseq": "coiled-coil domain-containing protein 57 isoform 2; coiled-coil domain-containing protein 57", "tax_id": 9606, "disease": "", "pathway": " (hsa:284001)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;19913121;20628086;28832583;29242379;29351928;29508533;30379171;31844290;32157095;32350084;32402286;33912179;33968037;33981976;34087483;35051231;35580925;39894887", "class_list": "", "function": "CCDC57 Cooperates with Microtubules and Microcephaly Protein CEP63 and Regulates Centriole Duplication and Mitotic Progression., [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]; Pleiotropic regulator of centriole duplication, mitosis, and ciliogenesis. Critical interface between centrosome and microtubule-mediated cellular processes. Centriole duplication protein required for recruitment of CEP63, CEP152, and PLK4 to the centrosome. Independent of its centrosomal targeting, localizes to and interacts with microtubules and regulates microtubule nucleation, stability, and mitotic progression., [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": 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": 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": "A6NP51;A8MQC7;Q8IWG2;Q8TER3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005814 centriole;GO:0034451 centriolar satellite;GO:0005876 spindle microtubule;GO:0036064 ciliary basal body", "go_biological_process": "GO:0045931 positive regulation of mitotic cell cycle;GO:0000086 G2/M transition of mitotic cell cycle;GO:0060271 cilium assembly;GO:0007020 microtubule nucleation;GO:0007099 centriole replication", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q2TAC2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UH92-1", "uniprot_id": [ { "id": "MLX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UH92", "type": "external" } ], "mass": 33300.0, "length": 298, "protein_name": "Max-like protein X", "gene_name": "MLX", "organism": "Human", "refseq_name": "max-like protein X isoform gamma", "refseq_ac": [ { "id": "NP_733752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_733752", "type": "external" } ], "gene_names_uniprotkb": "MLX; BHLHD13; TCFL4", "gene_names_refseq": "MAD7; MLX; MXD7; TCFL4; TF4; bHLHd13", "protein_names_uniprotkb": "Max-like protein X; Class D basic helix-loop-helix protein 13; Max-like bHLHZip protein; Protein BigMax; Transcription factor-like protein 4; bHLHd13", "protein_names_refseq": "BigMax protein; MAX-like bHLHZIP protein; MAX-like protein X; MLX, MAX dimerization protein; class D basic helix-loop-helix protein 13; max-like protein X isoform gamma; transcription factor-like protein 4", "tax_id": 9606, "disease": "oligoasthenoteratozoospermia (Disease Ontology:DOID:0070311); Takayasu's arteritis (Disease Ontology:DOID:2508)", "pathway": " (hsa:6945); (R-HSA-163765)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "10593926;10918583;11237011;12446771;14742444;15664996;16644726;16782875;16885160;17148476;23186163;23481700;24275569;24366607;24715725;25576301;25645385;26375851;26992070;27600516;27846572;27920218;28063628;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30354298;30410026;30429286;30484775;30524438;31217245;31844290;31919096;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34185709;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36241641;36284347;37088121", "class_list": "", "function": "MLX plays a key role in lipid and glucose metabolism in humans: Evidence from in vitro and in vivo studies., [RefSeq, PubMed]; MLX-Q139R mutation plays a crucial role in the pathogenesis of Takayasu arteritis through promoting inflammasome formation., [RefSeq, PubMed]; The MNT transcription factor autoregulates its expression and supports proliferation in MYC-associated factor X (MAX)-deficient cells., [RefSeq, PubMed]; The product of this gene belongs to the family of basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factors. These factors form heterodimers with Mad proteins and play a role in proliferation, determination and differentiation. This gene product may act to diversify Mad family function by its restricted association with a subset of the Mad family of transcriptional repressors, namely, Mad1 and Mad4. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription regulator. Forms a sequence-specific DNA-binding protein complex with MAD1, MAD4, MNT, WBSCR14 and MLXIP which recognizes the core sequence 5'-CACGTG-3'. The TCFL4-MAD1, TCFL4-MAD4, TCFL4-WBSCR14 complexes are transcriptional repressors. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation., [UniProtKB, 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": 6, "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": "A8K2J3;B2RAV8;B2RD73;Q53XM6;Q96FL2;Q9H2V0;Q9H2V1;Q9H2V2;Q9NXN3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;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: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:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9UH92-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00308-1", "uniprot_id": [ { "id": "WWP2_HUMAN", "url": "https://www.uniprot.org/uniprot/O00308", "type": "external" } ], "mass": 98912.0, "length": 870, "protein_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2", "gene_name": "WWP2", "organism": "Human", "refseq_name": "NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4", "refseq_ac": [ { "id": "NP_001257382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257382", "type": "external" } ], "gene_names_uniprotkb": "WWP2", "gene_names_refseq": "AIP2; WWP2; WWp2-like", "protein_names_uniprotkb": "NEDD4-like E3 ubiquitin-protein ligase WWP2; 2.3.2.26; AIP2; Atrophin-1-interacting protein 2; HECT-type E3 ubiquitin transferase WWP2; WW domain-containing protein 2", "protein_names_refseq": "HECT-type E3 ubiquitin transferase WWP2; NEDD4-like E3 ubiquitin-protein ligase WWP2 isoform 4; NEDD4-like E3 ubiquitin-protein ligase WWP2; atrophin-1 interacting protein 2", "tax_id": 9606, "disease": "Liddle syndrome (Disease Ontology:DOID:0050477)", "pathway": " (hsa:11060); (R-HSA-8948751); (R-HSA-9013406); (R-HSA-9013409); (R-HSA-9013420); (R-HSA-9013507)", "pathway_count": 6, "publication_count": 138, "publication_id_list": "10079256;10490598;10967094;11035045;11185749;11237011;11459829;11748237;12167593;12242347;12297295;12450395;12456725;12773384;15304341;15350535;15533827;15546864;15556869;15710388;16964243;17214551;17218260;17504809;17719543;18691976;19007248;19064640;19208840;19258391;19274063;19343052;19345329;19473982;19651900;19664995;19713215;19729658;20068231;20547754;20858735;21191027;21258410;21406692;21454492;21508312;21532586;21565175;21572392;22299025;22315426;22427670;22971344;23029280;23186163;23236378;23255595;23419514;23481700;24270891;24297911;24355937;24367090;24397554;24714562;24715725;24842903;25125655;25356737;25502872;25547115;25576301;25678704;25892735;26183061;26280536;26299518;26457515;26598620;26811146;26992070;27481945;27862975;28218747;28467828;28514659;28649982;28834231;28855257;28904123;29242379;29314611;29393594;29437277;29485866;29557506;29632711;30315122;30626607;31154438;31217245;31844290;31871319;32157095;32161166;32162841;32302585;32350084;32357974;32387766;32488085;32502341;32737221;32938616;32983136;33298915;33592498;33691108;33912179;33936100;33968037;34078123;34087483;34357683;34433824;34509645;35051231;35154160;35251023;35331737;35580925;36010968;37921219;37938771;7721814;9169421;9647693;9857026", "class_list": "", "function": "Data show that the WWP2-N isoform interacts with Smad2 and Smad3, whereas WWP2-C interacts only with Smad7., [RefSeq, PubMed]; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Polyubiquitinates POU5F1 by 'Lys-63'-linked conjugation and promotes it to proteasomal degradation; in embryonic stem cells (ESCs) the ubiquitination is proposed to regulate POU5F1 protein level. Ubiquitinates EGR2 and promotes it to proteasomal degradation; in T-cells the ubiquitination inhibits activation-induced cell death. Ubiquitinates SLC11A2; the ubiquitination is enhanced by presence of NDFIP1 and NDFIP2. Ubiquitinates RPB1 and promotes it to proteasomal degradation., [UniProtKB, PubMed, PubMed]; Expression, binding, and functional data all suggest that WWP2 is a candidate to regulate ENaC-mediated Na(+) transport in epithelia, [RefSeq, PubMed]; This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. 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 10. [provided by RefSeq, Jul 2012]., [RefSeq]; WWP2 binds to NKRF, enhances the NF-kappaB signaling, and promotes malignant phenotypes of acute myeloid leukemia 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": 6, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 27, "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": "A6NEP1;B2R706;B4DTL5;F5H213;H3BRF3;I3RSG8;Q6ZTQ5;Q96CZ2;Q9BWN6", "ec_number_list": [ { "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": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.67", "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" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "1.16.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.1.-", "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:0019870 potassium channel inhibitor activity;GO:0044325 transmembrane transporter binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:1903765 negative regulation of potassium ion export across plasma membrane;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0042391 regulation of membrane potential;GO:0045892 negative regulation of DNA-templated transcription;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "O00308-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18084-1", "uniprot_id": [ { "id": "ITB5_HUMAN", "url": "https://www.uniprot.org/uniprot/P18084", "type": "external" } ], "mass": 88054.0, "length": 799, "protein_name": "Integrin beta-5", "gene_name": "ITGB5", "organism": "Human", "refseq_name": "integrin beta-5 isoform a precursor", "refseq_ac": [ { "id": "NP_002204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002204", "type": "external" } ], "gene_names_uniprotkb": "ITGB5", "gene_names_refseq": "ITGB5", "protein_names_uniprotkb": "Integrin beta-5", "protein_names_refseq": "integrin beta-5 isoform a precursor; integrin beta-5; testis secretory sperm-binding protein Li 217p", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:3693); (R-HSA-1236973); (R-HSA-2129379); (R-HSA-216083); (R-HSA-2173789); (R-HSA-3000170); (R-HSA-3000178); (R-HSA-445355)", "pathway_count": 8, "publication_count": 243, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10022829;10025398;10209034;10339611;10358769;10366422;10424889;10438935;10543983;10544250;10593924;10605720;10640428;10646116;10673326;10673366;10713152;10811134;10930463;10982388;10991994;11084047;11100470;11141505;11158588;11237011;11242081;11259413;11390472;11457814;11518510;11532985;11572855;11713259;11889009;11970960;11980922;12048254;12225811;12358597;12415008;12429738;12482908;12496264;12585966;12682293;12807887;12975610;1333888;1376317;1400330;14506282;14627618;14681059;14701737;14715956;14976204;15075323;15156152;15240572;15296743;15330449;15345499;15350224;15377279;15383545;1544908;15479743;15564041;15611078;156362;15713743;1588291;15899827;16002701;16051604;16239428;16293224;16493581;16731529;16754661;16933105;16945929;17055381;1708799;17314405;17324935;17339034;17351642;17588949;17968485;18268517;18331591;18339631;18469808;18682599;18710925;18775695;18974361;19217269;1930128;19380584;19502598;19720988;20033473;20068231;2010551;20171863;20507994;2059554;20615244;20625381;20705068;21642437;21646718;21789315;2211615;22134916;22421042;22539938;22706990;22778174;22884367;23090970;23186163;2328726;23290524;23374253;23584533;2364322;2371275;23834404;2412224;24190977;2420006;2430969;24872348;2526655;25576301;25645385;26362469;26758079;27452731;27600516;2764880;27679490;27846572;27862975;28741090;28832583;28834231;29093164;29393594;29557506;2963012;29741879;30429286;30484775;31217245;31611695;31844290;32157095;32350084;32387766;32938616;33592498;33912179;33968037;33981976;34087483;34171305;34357683;35051231;35318648;35580925;36010968;36241641;36284347;37074911;37217939;37482842;3780718;38199575;38729557;39180583;6193777;6439184;7499434;7500359;7505120;7525578;7527058;7534784;7541634;7542249;7542669;7559467;7678924;7685013;7693660;7693733;7737999;7852349;8002934;8047140;8089108;8118028;8242743;8344274;8440685;8560266;8609172;8798654;8838667;8858389;8910476;8943283;8947046;8980228;9115237;9233797;9251239;9252349;9294172;9311995;9341124;9346959;9346966;9443892;9481611;9565552;9598563;9600334;9685393;9725916;9763615;9804763;9855623;9858236;9865696;9949188", "class_list": "", "function": "(Microbial infection) Integrin ITGAV:ITGB5 acts as a receptor for adenovirus type C., [UniProtKB, PubMed]; Assessment Of Endometrial Integrin Beta 5 In Women With Unexplained Recurrent Pregnancy Loss., [RefSeq, PubMed]; ITGB5 facilitates gastric cancer metastasis by promoting TGFBR2 endosomal recycling., [RefSeq, PubMed]; Integrin alpha-V/beta-5 (ITGAV:ITGB5) is a receptor for fibronectin. It recognizes the sequence R-G-D in its ligand., [UniProtKB]; PTP1B mediates the inhibitory effect of MFGE8 on insulin signaling through the beta5 integrin., [RefSeq, PubMed]; ROS-mediated ITGB5 promotes tongue squamous cell carcinoma metastasis through epithelial mesenchymal transition and cell adhesion signal pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a beta subunit of integrin, which can combine with different alpha chains to form a variety of integrin heterodimers. Integrins are integral cell-surface receptors that participate in cell adhesion as well as cell-surface mediated signaling. The alphav beta5 integrin is involved in adhesion to vitronectin. [provided by RefSeq, Aug 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": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 7, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 29, "disease_count": 1, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B0LPF8;B2RD70", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0046872 metal ion binding;GO:0001618 virus receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0043235 receptor complex;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007229 integrin-mediated signaling pathway;GO:0016477 cell migration;GO:0007160 cell-matrix adhesion;GO:0007179 transforming growth factor beta receptor signaling pathway;GO:0033627 cell adhesion mediated by integrin", "synthesized_glycan_count": 0, "hit_score": 28.3, "record_id": "P18084-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2G1-1", "uniprot_id": [ { "id": "AKIB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2G1", "type": "external" } ], "mass": 122002.0, "length": 1089, "protein_name": "Ankyrin repeat and IBR domain-containing protein 1", "gene_name": "ANKIB1", "organism": "Human", "refseq_name": "ankyrin repeat and IBR domain-containing protein 1", "refseq_ac": [ { "id": "NP_061877", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061877", "type": "external" } ], "gene_names_uniprotkb": "ANKIB1; KIAA1386", "gene_names_refseq": "ANKIB1", "protein_names_uniprotkb": "Ankyrin repeat and IBR domain-containing protein 1; 2.3.2.31", "protein_names_refseq": "ankyrin repeat and IBR domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54467)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "10.1101/2023.09.13.557529;11237011;17081983;18088087;18578522;18669648;18691976;19664994;19664995;20058876;20213681;23186163;23481700;24275569;24714562;25576301;25880248;25892735;27846572;28904123;29242379;29437277;29493099;29557506;29769354;30315122;30429286;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32938616;33298915;33592498;33968037;33981976;34357683;34932366;35051231;35251023;35580925;36010968;36215666;36433954;39213157", "class_list": "", "function": "CircCsnk1g3- and circAnkib1-regulated interferon responses in sarcoma promote tumorigenesis by shaping the immune microenvironment. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin ligase ANKIB1 attenuates antiviral immune responses by promoting K48-linked polyubiquitination of MAVS., [RefSeq, PubMed]; Might act as an E3 ubiquitin-protein ligase, or as part of E3 complex, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes and then transfers it to substrates., [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": 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": 31, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6GMS4;Q6P3S9;Q9NTD7;Q9NW49", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0031624 ubiquitin conjugating enzyme binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9P2G1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BT22-1", "uniprot_id": [ { "id": "ALG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BT22", "type": "external" } ], "mass": 52518.0, "length": 464, "protein_name": "Chitobiosyldiphosphodolichol beta-mannosyltransferase", "gene_name": "ALG1", "organism": "Human", "refseq_name": "chitobiosyldiphosphodolichol beta-mannosyltransferase isoform 2", "refseq_ac": [ { "id": "NP_001317433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317433", "type": "external" } ], "gene_names_uniprotkb": "ALG1; HMAT1; HMT1; PRO1870; PSEC0061", "gene_names_refseq": "ALG1; CDG1K; HMAT1; HMT-1; HMT1; MT-1; Mat-1; hMat-1", "protein_names_uniprotkb": "Chitobiosyldiphosphodolichol beta-mannosyltransferase; 2.4.1.142; Asparagine-linked glycosylation protein 1 homolog; Beta-1,4-mannosyltransferase; GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase; GDP-mannose-dolichol diphosphochitobiose mannosyltransferase; MT-1; Mannosyltransferase-1; hMat-1", "protein_names_refseq": "GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase; GDP-mannose-dolichol diphosphochitobiose mannosyltransferase; asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase); asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog; asparagine-linked glycosylation protein 1 homolog; chitobiosyldiphosphodolichol beta-mannosyltransferase isoform 2; chitobiosyldiphosphodolichol beta-mannosyltransferase; mannosyltransferase-1; mutant ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase", "tax_id": 9606, "disease": "congenital disorder of glycosylation type I (Disease Ontology:DOID:0050570); congenital disorder of glycosylation Ik (Disease Ontology:DOID:0080563); congenital disorder of glycosylation (Disease Ontology:DOID:5212)", "pathway": " (hsa:56052); (R-HSA-446193); (R-HSA-4549380)", "pathway_count": 3, "publication_count": 84, "publication_id_list": "10359825;10704531;11237011;11278778;11807558;11983712;12030331;12200473;12684507;12872255;12975309;14709599;14973778;14973782;15148656;15235028;15710750;15840742;15945070;16007612;16100110;16303743;16859551;16878994;18313027;18597486;18691976;19282279;20679665;22742743;23186163;23481700;24157261;24715725;25576301;26931382;26992070;27325525;27397612;27600516;28228285;28510447;28514659;28832583;28904123;29242379;29309433;29393594;29557506;29632046;29769354;29786170;29789417;30315122;30410026;30429286;31154438;31530632;31844290;32157095;32357974;32387766;32897882;32938616;32983136;33298915;33912179;33968037;33981976;34087483;34171305;34357683;34509645;35051231;35136180;35561310;35580925;36010968;36241641;36284347;37938771;38470198;9451016;9597543", "class_list": "glycogene;glycosyltransferase", "function": "Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblasts., [RefSeq, PubMed]; Evaluated the genetic association of WDR3 and ALG1 in schizophrenia. We examined 21 single nucleotide polymorphisms [SNPs; W1 (rs1812607)-W16 (rs6656360), A1 (rs8053916)-A10 (rs9673733)] from these genes using the Japanese case-control sample (1,808 schizophrenics and 2,170 matched controls). No significant genetic associations of these SNPs were identified. However, we detected a significant association of W4 (rs319471) Publication Status: Online-Only, [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. Catalyzes, on the cytoplasmic face of the endoplasmic reticulum, the addition of the first mannose residues to the dolichol-linked oligosaccharide chain, to produce Man1GlcNAc(2)-PP-dolichol core oligosaccharide. Man1GlcNAc(2)-PP-dolichol is a substrate for ALG2, the following enzyme in the biosynthetic pathway., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Study presents molecular, clinical and biochemical findings in the largest collection of ALG1-CDG cases ever reported at a single time with 39 cases, bringing the total number to 57. This ranks it the third most common CDG type behind PMM2-CDG and ALG6-CDG. In addition, highly lethal genotype were identified and confirm the presence of a unique xeno-tetrasaccharide in ALG1-CDG patients., [RefSeq, PubMed]; The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]., [RefSeq]; Was detected in the patient's ALG1-coding sequence., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 873, "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": "B4DP08;Q6UVZ9;Q8N5Y4;Q9P2Y2", "ec_number_list": [ { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.142", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.142", "type": "external" } ], "go_molecular_function": "GO:0000030 mannosyltransferase activity;GO:0004578 chitobiosyldiphosphodolichol beta-mannosyltransferase activity", "go_cellular_component": "GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0005783 endoplasmic reticulum;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": 15150, "hit_score": 8.7, "record_id": "Q9BT22-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NFN9-2", "uniprot_id": [ { "id": "ANKUB_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NFN9", "type": "external" } ], "mass": 56600.0, "length": 502, "protein_name": "Protein ANKUB1", "gene_name": "ANKUB1", "organism": "Human", "refseq_name": "protein ANKUB1 isoform 1", "refseq_ac": [ { "id": "NP_001138432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138432", "type": "external" } ], "gene_names_uniprotkb": "ANKUB1; C3orf16", "gene_names_refseq": "ANKUB1; C3orf16", "protein_names_uniprotkb": "Protein ANKUB1; Ankyrin repeat and ubiquitin domain-containing 1", "protein_names_refseq": "protein ANKUB1 isoform 1; protein ANKUB1", "tax_id": 9606, "disease": "", "pathway": " (hsa:389161)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "30379171;32253825;32938616", "class_list": "", "function": "Novel frameshift mutations of ANKUB1, GLI3, and TAS2R3 associated with polysyndactyly in a Chinese family., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B4E2N8;E9PHT4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A6NFN9-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13686-1", "uniprot_id": [ { "id": "ALKB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13686", "type": "external" } ], "mass": 43832.0, "length": 389, "protein_name": "Nucleic acid dioxygenase ALKBH1", "gene_name": "ALKBH1", "organism": "Human", "refseq_name": "nucleic acid dioxygenase ALKBH1", "refseq_ac": [ { "id": "NP_006011", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006011", "type": "external" } ], "gene_names_uniprotkb": "ALKBH1; ABH1; ABH; ALKBH", "gene_names_refseq": "ABH1; ABH; ALKBH1; ALKBH; alkB; hABH", "protein_names_uniprotkb": "Nucleic acid dioxygenase ALKBH1; 1.14.11.-; 1.14.11.33; 1.14.11.51; 4.2.99.18; Alkylated DNA repair protein alkB homolog 1; Alpha-ketoglutarate-dependent dioxygenase ABH1; DNA 6mA demethylase; DNA N6-methyl adenine demethylase ALKBH1; DNA lyase ABH1; DNA oxidative demethylase ALKBH1; mRNA N(3)-methylcytidine demethylase", "protein_names_refseq": "DNA 6mA demethylase; DNA N6-methyl adenine demethylase ALKBH1; DNA demethylase ALKBH1; DNA lyase ABH1; DNA oxidative demethylase ALKBH1; alkB, alkylation repair homolog 1; alkylated DNA repair protein alkB homolog 1; alkylation repair, alkB homolog; alpha-ketoglutarate-dependent dioxygenase ABH1; mRNA N(3)-methylcytidine demethylase; nucleic acid dioxygenase ALKBH1; tRNA N1-methyl adenine demethylase", "tax_id": 9606, "disease": "", "pathway": " (hsa:8846)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;12594517;17979886;18603530;19959401;22961808;23577621;25459764;25576301;26992070;27497299;27745969;28218747;28411811;28832583;28904123;29242379;29437277;29493099;29632046;30017583;30392959;31154438;31188562;31844290;32157095;32161166;32387766;32502341;32938616;32983136;33298915;33717175;33912179;33968037;34087483;34922943;35051231;36228319;36920340;36976498;36989111;8600462", "class_list": "", "function": "ALKBH1 contributes to renal cell carcinoma progression by reducing N6-methyladenine of GPR137., [RefSeq, PubMed]; AlkB homologues, hABH2 and hABH3, also are oxidative DNA demethylases; AlkB and hABH3, but not hABH2, also repair RNA, [RefSeq, PubMed]; DNA 6mA demethylase ALKBH1 regulates DDX18 expression to promote proliferation of human head and neck squamous cell carcinoma., [RefSeq, PubMed]; DNA demethylase ALKBH1 promotes adipogenic differentiation via regulation of HIF-1 signaling., [RefSeq, PubMed]; Dioxygenase that acts on nucleic acids, such as DNA and tRNA (PubMed:18603530, PubMed:27497299, PubMed:27745969). Requires molecular oxygen, alpha-ketoglutarate and iron (PubMed:18603530, PubMed:27497299). A number of activities have been described for this dioxygenase, but recent results suggest that it mainly acts on tRNAs and mediates their demethylation or oxidation depending on the context and subcellular compartment (PubMed:27497299, PubMed:27745969). Mainly acts as a tRNA demethylase by removing N(1)-methyladenine from various tRNAs, with a preference for N(1)-methyladenine at position 58 (m1A58) present on a stem loop structure of tRNAs (PubMed:27745969). Acts as a regulator of translation initiation and elongation in response to glucose deprivation: regulates both translation initiation, by mediating demethylation of tRNA(Met), and translation elongation, N(1)-methyladenine-containing tRNAs being preferentially recruited to polysomes to promote translation elongation (PubMed:27745969). In mitochondrion, specifically interacts with mt-tRNA(Met) and mediates oxidation of mt-tRNA(Met) methylated at cytosine(34) to form 5-formylcytosine (f(5)c) at this position (PubMed:27497299). mt-tRNA(Met) containing the f(5)c modification at the wobble position enables recognition of the AUA codon in addition to the AUG codon, expanding codon recognition in mitochondrial translation (PubMed:27497299). Specifically demethylates DNA methylated on the 6th position of adenine (N(6)-methyladenosine) DNA (PubMed:30017583, PubMed:30392959). N(6)-methyladenosine (m6A) DNA is present at some L1 elements in embryonic stem cells and probably promotes their silencing (By similarity). Demethylates mRNAs containing N(3)-methylcytidine modification (PubMed:31188562). Also able to repair alkylated single-stranded DNA by oxidative demethylation, but with low activity (PubMed:18603530). Also has DNA lyase activity and introduces double-stranded breaks at abasic sites: cleaves both single-stranded DNA and double-stranded DNA at abasic sites, with the greatest activity towards double-stranded DNA with two abasic sites (PubMed:19959401). DNA lyase activity does not require alpha-ketoglutarate and iron and leads to the formation of an irreversible covalent protein-DNA adduct with the 5' DNA product (PubMed:19959401, PubMed:23577621). DNA lyase activity is not required during base excision repair and class switch recombination of the immunoglobulin heavy chain during B lymphocyte activation. May play a role in placental trophoblast lineage differentiation (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Evaluating the Potential for ABO-incompatible Islet Transplantation: Expression of ABH Antigens on Human Pancreata, Isolated Islets, and Embryonic Stem Cell-derived Islets., [RefSeq, PubMed]; HABH1 is a functional mitochondrial AlkB homolog that repairs 3-methylcytosine in single-stranded DNA and RNA., [RefSeq, PubMed]; Show that ABH1 unexpectedly has a second activity, cleaving DNA at abasic (AP) sites such as those arising spontaneously from alkylation-dependent depurination reactions., [RefSeq, PubMed]; The N[6]-methyladenine DNA demethylase ALKBH1 promotes gastric carcinogenesis by disrupting NRF1 binding capacity., [RefSeq, PubMed]; This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [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": 37, "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": "Q8TAU1;Q9ULA7", "ec_number_list": [ { "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": "2.7.7.7", "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": "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": "1.14.11.54", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.54", "type": "external" }, { "id": "1.14.11.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.53", "type": "external" } ], "go_molecular_function": "GO:0042056 chemoattractant activity;GO:0000049 tRNA binding;GO:0008198 ferrous iron binding;GO:0140078 class I DNA-(apurinic or apyrimidinic site) endonuclease activity;GO:1990984 tRNA demethylase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006281 DNA repair;GO:0006351 DNA-templated transcription;GO:0002101 tRNA wobble cytosine modification;GO:0006446 regulation of translational initiation;GO:0006448 regulation of translational elongation", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q13686-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13015-1", "uniprot_id": [ { "id": "AF1Q_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13015", "type": "external" } ], "mass": 10061.0, "length": 90, "protein_name": "Protein AF1q", "gene_name": "MLLT11", "organism": "Human", "refseq_name": "protein AF1q", "refseq_ac": [ { "id": "NP_006809", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006809", "type": "external" } ], "gene_names_uniprotkb": "MLLT11; AF1Q", "gene_names_refseq": "AF1Q; MLLT11", "protein_names_uniprotkb": "Protein AF1q", "protein_names_refseq": "ALL1 fused gene from chromosome 1q; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); myeloid/lymphoid or mixed-lineage leukemia; protein AF1q; translocated to, 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:10962)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "15530661;17929166;18852119;19396856;21715312;24880125;25418920;25576301;25810538;25880248;26079538;26992070;27846572;28228285;28649982;28832583;28834231;29242379;29508533;29557506;30315122;30379171;30429286;31154438;31217245;31844290;31998317;32161166;32502341;33912179;33968037;34357683;34828371;36010968;37938771;38075552;38203610;7833468", "class_list": "", "function": "A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family. Publication Status: Online-Only, [RefSeq, PubMed]; Cofactor for the transcription factor TCF7 (PubMed:26079538). Involved in regulation of lymphoid development by driving multipotent hematopoietic progenitor cells towards a T cell fate (PubMed:21715312)., [UniProtKB, PubMed, PubMed]; High AF1q expression is a poor prognostic marker for adult patients with normal cytogenetics acute myeloid leukemia, [RefSeq, PubMed]; MLLT11 Regulates Endometrial Stroma Cell Adhesion, Proliferation and Survival in Ectopic Lesions of Women with Advanced Endometriosis. Publication Status: Online-Only, [RefSeq, PubMed]; MLLT11 siRNA Inhibits the Migration and Promotes the Apoptosis of MDA-MB-231 Breast Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of AF1Q leads to more progression in human breast cancer, [RefSeq, PubMed]; The ectopic expression of human AF1q triggered the expression of the neuronal marker TuJ1 in non-neuronal human embryonic kidney (HEK) cells., [RefSeq, PubMed]; The gene variously symbolized ALL1, HRX, or MLL located on 11q23 has been demonstrated to be fused with a number of translocation partners in cases of leukemia. t(1;11)(q21;q23) translocations that fused the MLL gene to a gene on chromosomal band 1q21 in 2 infants with acute myelomonocytic leukemia have been demonstrated. The N-terminal portion of the MLL gene is critical for leukemogenesis in translocations involving band 11q23. This gene encodes 90 amino acids. It was found to be highly expressed in the thymus but not in peripheral lymphoid tissues. In contrast to its restricted distribution in normal hematopoietic tissue, this gene was expressed in all leukemic cell lines tested. [provided by RefSeq, Jul 2008]., [RefSeq]; The study provides the first evidence that AF1q plays a critical role in the regulation of apoptosis and drug 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0045893 positive regulation of DNA-templated transcription;GO:0097191 extrinsic apoptotic signaling pathway;GO:0090200 positive regulation of release of cytochrome c from mitochondria;GO:0097193 intrinsic apoptotic signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q13015-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15848-1", "uniprot_id": [ { "id": "ADIPO_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15848", "type": "external" } ], "mass": 26414.0, "length": 244, "protein_name": "Adiponectin", "gene_name": "ADIPOQ", "organism": "Human", "refseq_name": "adiponectin precursor", "refseq_ac": [ { "id": "NP_001171271", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171271", "type": "external" } ], "gene_names_uniprotkb": "ADIPOQ; ACDC; ACRP30; APM1; GBP28", "gene_names_refseq": "ACDC; ACRP30; ADIPOQ; ADIPQTL1; ADPN; APM-1; APM1; GBP28", "protein_names_uniprotkb": "Adiponectin; 30 kDa adipocyte complement-related protein; ACRP30; Adipocyte complement-related 30 kDa protein; Adipocyte, C1q and collagen domain-containing protein; Adipose most abundant gene transcript 1 protein; Gelatin-binding protein; apM-1", "protein_names_refseq": "30 kDa adipocyte complement-related protein; adipocyte complement-related 30 kDa protein; adiponectin precursor; adipose most abundant gene transcript 1 protein; adipose specific collagen-like factor; gelatin-binding protein 28", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); cardiomyopathy (Disease Ontology:DOID:0050700); peripheral artery disease (Disease Ontology:DOID:0050830); sleep apnea (Disease Ontology:DOID:0050847); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); stroke (Disease Ontology:DOID:0051061); colitis (Disease Ontology:DOID:0060180); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); graft-versus-host disease (Disease Ontology:DOID:0081267); Alzheimer's disease (Disease Ontology:DOID:10652); primary open angle glaucoma (Disease Ontology:DOID:1070); polycystic ovary syndrome (Disease Ontology:DOID:11612); familial hyperlipidemia (Disease Ontology:DOID:1168); gestational diabetes (Disease Ontology:DOID:11714); Rett syndrome (Disease Ontology:DOID:1206); Graves' disease (Disease Ontology:DOID:12361); cardiovascular system disease (Disease Ontology:DOID:1287); dementia (Disease Ontology:DOID:1307); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); Behcet's disease (Disease Ontology:DOID:13241); Kawasaki disease (Disease Ontology:DOID:13378); biliary atresia (Disease Ontology:DOID:13608); diffuse scleroderma (Disease Ontology:DOID:1580); breast cancer (Disease Ontology:DOID:1612); vascular disease (Disease Ontology:DOID:178); atherosclerosis (Disease Ontology:DOID:1936); hyperinsulinism (Disease Ontology:DOID:2018); autoimmune hepatitis (Disease Ontology:DOID:2048); multiple sclerosis (Disease Ontology:DOID:2377); prostate adenocarcinoma (Disease Ontology:DOID:2526); Mycobacterium avium complex disease (Disease Ontology:DOID:2755); pulmonary tuberculosis (Disease Ontology:DOID:2957); familial Mediterranean fever (Disease Ontology:DOID:2987); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); bipolar disorder (Disease Ontology:DOID:3312); coronary aneurysm (Disease Ontology:DOID:3362); coronary artery disease (Disease Ontology:DOID:3393); brain infarction (Disease Ontology:DOID:3454); liver cirrhosis (Disease Ontology:DOID:5082); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); ankylosing spondylitis (Disease Ontology:DOID:7147); rheumatoid arthritis (Disease Ontology:DOID:7148); end stage renal disease (Disease Ontology:DOID:783); hyperthyroidism (Disease Ontology:DOID:7998); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); diabetic retinopathy (Disease Ontology:DOID:8947); amyloidosis (Disease Ontology:DOID:9120); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); Adiponectin deficiency (MIM:MIM:612556)", "pathway": " (hsa:9370); (R-HSA-163680); (R-HSA-381340); (R-HSA-9841922)", "pathway_count": 4, "publication_count": 65, "publication_id_list": "10075656;10095105;10403784;10425206;10558993;10698692;10835357;10882139;10918532;10961870;10982546;11027271;11095972;11479627;11812766;11872672;12086969;12213831;12354786;12802337;12829629;12878598;1310260;15273253;15340161;15850785;15919796;16380219;16497731;17011499;17761950;17980149;17992633;18931025;19043829;19115207;19172745;19855092;20101261;22449980;22905912;23239344;26578976;30459171;32983136;33329381;35869090;38959886;39032860;39128620;39290095;8325954;8521497;8521498;8619847;8643605;8706692;8770873;8947845;8970730;9065481;9171241;9454824;9744270;9836620", "class_list": "", "function": "Association of adiponectin gene single nucleotide polymorphisms with environmental risk factors in type 2 diabetes mellitus: An updated evidence of haplotype-based analysis study., [RefSeq, PubMed]; Association of rs2241766 and rs1501299 polymorphisms in the adiponectin gene with metabolic syndrome., [RefSeq, PubMed]; Important adipokine involved in the control of fat metabolism and insulin sensitivity, with direct anti-diabetic, anti-atherogenic and anti-inflammatory activities. Stimulates AMPK phosphorylation and activation in the liver and the skeletal muscle, enhancing glucose utilization and fatty-acid combustion. Antagonizes TNF by negatively regulating its expression in various tissues such as liver and macrophages, and also by counteracting its effects. Inhibits endothelial NF-kappa-B signaling through a cAMP-dependent pathway. May play a role in cell growth, angiogenesis and tissue remodeling by binding and sequestering various growth factors with distinct binding affinities, depending on the type of complex, LMW, MMW or HMW., [UniProtKB, PubMed]; Role of leptin and adiponectin in the pathogenesis of post-transplant diabetes mellitus. Review article, [RefSeq, PubMed]; This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010]., [RefSeq]; Weight-loss maintenance is accompanied by interconnected alterations in circulating FGF21-adiponectin-leptin and bioactive sphingolipids., [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": 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": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 56, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q58EX9", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0042803 protein homodimerization activity;GO:0005125 cytokine activity;GO:0005179 hormone activity;GO:0043539 protein serine/threonine kinase activator activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0009986 cell surface;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006091 generation of precursor metabolites and energy;GO:0006635 fatty acid beta-oxidation;GO:0010875 positive regulation of cholesterol efflux;GO:0032869 cellular response to insulin stimulus;GO:0034612 response to tumor necrosis factor", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q15848-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100010000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3SY69-1", "uniprot_id": [ { "id": "AL1L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3SY69", "type": "external" } ], "mass": 101746.0, "length": 923, "protein_name": "Mitochondrial 10-formyltetrahydrofolate dehydrogenase", "gene_name": "ALDH1L2", "organism": "Human", "refseq_name": "mitochondrial 10-formyltetrahydrofolate dehydrogenase precursor", "refseq_ac": [ { "id": "NP_001029345", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001029345", "type": "external" } ], "gene_names_uniprotkb": "ALDH1L2", "gene_names_refseq": "ALDH1L2; mtFDH", "protein_names_uniprotkb": "Mitochondrial 10-formyltetrahydrofolate dehydrogenase; 1.5.1.6; Aldehyde dehydrogenase family 1 member L2; Mitochondrial 10-FTHFDH; mtFDH", "protein_names_refseq": "10-formyltetrahydrofolate dehydrogenase ALDH1L2; aldehyde dehydrogenase family 1 member L2, mitochondrial; mitochondrial 10-FTHFDH; mitochondrial 10-formyltetrahydrofolate dehydrogenase precursor; mitochondrial 10-formyltetrahydrofolate dehydrogenase; probable 10-formyltetrahydrofolate dehydrogenase ALDH1L2", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208)", "pathway": " (hsa:160428); (R-HSA-196757)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10091649;10347183;10978331;11237011;12937168;16171773;17129779;17308042;17962486;19424049;19608861;19933275;19948730;20498374;20877624;21163947;21238436;21876188;2248959;23409799;23934049;24733394;25418920;2605182;26811146;26992070;27920218;28904123;29393594;29557506;29632046;30379171;3053686;32387766;32423175;32658475;32938616;33053560;33163492;33592498;34509645;35051231;36010968;36284347;37245210;3801490;38193334;38665916;3871768;38923573;4066659;6323448;7726158;7852378;8218174;8522195;8662720;9753690", "class_list": "", "function": "A gene at chromosome locus 12q24.11 of the human genome, the product of which has 74% sequence similarity with cytosolic FDH, [RefSeq, PubMed]; ALDH1L2 has enzymatic properties similar to its cytosolic counterpart, [RefSeq, PubMed]; ALDH1L2 regulation of formate, formyl-methionine, and ROS controls cancer cell migration and metastasis., [RefSeq, PubMed]; FOXO1 induced fatty acid oxidation in hepatic cells by targeting ALDH1L2., [RefSeq, PubMed]; Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder., [RefSeq, PubMed]; Mitochondrial 10-formyltetrahydrofolate dehydrogenase that catalyzes the NADP(+)-dependent conversion of 10-formyltetrahydrofolate to tetrahydrofolate and carbon dioxide., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Our study identifies human PPT as the FDH-modifying enzyme and supports the hypothesis that mammals utilize a single enzyme for all phosphopantetheinylation reactions., [RefSeq, PubMed]; This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[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": 2, "reported_mutagensis": 2, "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": "Q3SY68;Q68D62;Q6AI55;Q8N922", "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:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006730 one-carbon metabolic process;GO:0009258 10-formyltetrahydrofolate catabolic process;GO:0046655 folic acid metabolic process;GO:0006740 NADPH regeneration", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q3SY69-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4KMQ2-1", "uniprot_id": [ { "id": "ANO6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4KMQ2", "type": "external" } ], "mass": 106165.0, "length": 910, "protein_name": "Anoctamin-6", "gene_name": "ANO6", "organism": "Human", "refseq_name": "anoctamin-6 isoform a", "refseq_ac": [ { "id": "NP_001020527", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020527", "type": "external" } ], "gene_names_uniprotkb": "ANO6; TMEM16F", "gene_names_refseq": "ANO6; BDPLT7; SCTS; TMEM16F", "protein_names_uniprotkb": "Anoctamin-6; SCAN channel; Small-conductance calcium-activated nonselective cation channel; Transmembrane protein 16F", "protein_names_refseq": "SCAN channel; anoctamin-6 isoform a; small-conductance calcium-activated nonselective cation channel; transmembrane protein 16F", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); Scott syndrome (Disease Ontology:DOID:0111052); ankylosing spondylitis (Disease Ontology:DOID:7147)", "pathway": " (hsa:196527); (R-HSA-2672351); (R-HSA-6798695); (R-HSA-9733458); (R-HSA-9769739); (R-HSA-9769743); (R-HSA-9853846)", "pathway_count": 7, "publication_count": 288, "publication_id_list": "10.1101/2023.09.13.557529;10026158;10564087;10642508;10720933;10767424;10830164;10831588;11035113;11182090;11237011;11238108;11342438;11588175;11687798;11734858;11833835;11842292;11904445;11956057;12052963;12393854;12907439;12907679;1379744;14584882;14634667;14982929;15010458;15044642;15067359;15147738;15318163;15504734;15505377;15916532;15919655;16161994;1618828;16219661;16619025;16813530;16849430;16850186;17074750;17381423;17448995;17506785;17598008;17635713;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18491316;18508966;18662336;18724360;1902833;19153159;19159218;19297154;1930190;19307298;19380724;19387438;19620632;19808995;19953639;20004170;20056604;20068231;2019570;20388639;20427285;20466723;20525693;20538786;21040849;2104832;2110473;21107324;21209280;21511967;21527911;21607626;21642943;21908539;21932952;21984732;22002868;22006324;22075693;22144186;22302790;22424782;22618708;2271516;22773952;22786881;22898188;22946059;22961984;2298749;23021219;23112050;2321095;23481700;23616951;23650620;23683607;2384594;24190977;24397554;24554904;24715725;2502206;2505252;2536303;2538457;25418920;25502872;25576301;25645385;25713144;25855704;26154972;26359375;26375851;26473492;26562072;26811146;26992070;27543614;27600516;27862975;27879994;28071645;28154142;28228285;28467828;28514659;28790369;28832583;28904123;29223926;29242379;29331515;29393594;29419409;29493099;29508533;29557506;29632046;29632711;29741879;29786170;29789417;3017409;30315122;30410026;30429286;30524438;30779550;3082357;30918026;31154438;31217245;31262782;3129422;3134349;31439947;31844290;31848261;31937595;31998317;32125455;32157095;32161166;32265295;32350084;32357974;32362314;32387766;32488085;32502341;32512386;32532959;32703818;32721790;32897882;32938616;32942285;32983136;33051876;33123756;33141586;33298915;33310888;33392160;33493182;33494095;33581114;33592498;33691108;33827113;33890572;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34211107;34213849;34357683;34405274;34433824;34504087;34509645;34528721;34561887;34613786;34732583;34929169;35051231;35154160;3524673;35251023;35318648;35343766;35580925;36010968;36215666;36284347;36951953;37074911;3733688;3744129;37726033;37938771;37960776;38033286;3863104;38665916;38941274;39337485;39358671;6323392;6334516;6438527;7499257;7588753;7665160;7727775;7756647;7795595;8041726;8112288;8144529;8148489;8338946;8383669;8533761;8544406;8626462;8626656;8639781;8692836;8809036;9037075;9218519;9395096;9459334;9469622;9571199;9607108;9662395;9700209;9719863;9744806;9774404;9834200;9888880", "class_list": "", "function": "(Microbial infection) Upon SARS coronavirus-2/SARS-CoV-2 infection, is activated by spike protein which increases the amplitude of spontaneous Ca(2+) signals and is required for spike-mediated syncytia., [UniProtKB, PubMed]; ANO6 is a reliable prognostic biomarker and correlates to macrophage polarization in breast cancer., [RefSeq, PubMed]; Analysis of ANO6, HAPLN1, and EDIL3 Polymorphisms in Patients with Ankylosing Spondylitis in a Chinese Han Population: A Case-Control Study., [RefSeq, PubMed]; Deciphering and disrupting PIEZO1-TMEM16F interplay in hereditary xerocytosis., [RefSeq, PubMed]; Functional Interdependence of Anoctamins May Influence Conclusions from Overexpression Studies. Publication Status: Online-Only, [RefSeq, PubMed]; Small-conductance calcium-activated nonselective cation (SCAN) channel which acts as a regulator of phospholipid scrambling in platelets and osteoblasts (PubMed:20056604, PubMed:21107324, PubMed:21908539, PubMed:22006324, PubMed:22946059). Phospholipid scrambling results in surface exposure of phosphatidylserine which in platelets is essential to trigger the clotting system whereas in osteoblasts is essential for the deposition of hydroxyapatite during bone mineralization (By similarity). Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Can generate outwardly rectifying chloride channel currents in airway epithelial cells and Jurkat T lymphocytes (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Study identified 2 novel mutations in the TMEM16F gene in 2 patients with Scott syndrome., [RefSeq, PubMed]; TMEM16F exacerbates tau pathology and mediates phosphatidylserine exposure in phospho-tau-burdened neurons., [RefSeq, PubMed]; This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 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": 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 20, "disease_count": 3, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A6NNM6;B9EGG0;E7ENK4;E9PB30;E9PCT2;Q8N3Q2", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0046983 protein dimerization activity;GO:0005227 calcium-activated cation channel activity;GO:0005229 intracellularly calcium-gated chloride channel activity;GO:0005247 voltage-gated chloride channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0035579 specific granule membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0090026 positive regulation of monocyte chemotaxis;GO:0007596 blood coagulation;GO:0034220 monoatomic ion transmembrane transport;GO:0030501 positive regulation of bone mineralization", "synthesized_glycan_count": 0, "hit_score": 31.6, "record_id": "Q4KMQ2-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JQC9-1", "uniprot_id": [ { "id": "AKAP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JQC9", "type": "external" } ], "mass": 94477.0, "length": 854, "protein_name": "A-kinase anchor protein 4", "gene_name": "AKAP4", "organism": "Human", "refseq_name": "A-kinase anchor protein 4 isoform 1", "refseq_ac": [ { "id": "NP_003877", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003877", "type": "external" } ], "gene_names_uniprotkb": "AKAP4; AKAP82", "gene_names_refseq": "AKAP 82; AKAP-4; AKAP4; AKAP82; CT99; FSC1; HI; PRKA4; hAKAP82; p82", "protein_names_uniprotkb": "A-kinase anchor protein 4; A-kinase anchor protein 82 kDa; AKAP 82; AKAP-4; HI; Major sperm fibrous sheath protein; PRKA4; Protein kinase A-anchoring protein 4; hAKAP82", "protein_names_refseq": "A kinase (PRKA) anchor protein 4; A-kinase anchor protein 4 isoform 1; A-kinase anchor protein 4; A-kinase anchor protein 82 kDa; cancer/testis antigen 99; epididymis secretory sperm binding protein; major sperm fibrous sheath protein; protein kinase A anchoring protein 4; testis-specific gene HI", "tax_id": 9606, "disease": "", "pathway": " (hsa:8852)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;12509440;18452278;20068231;24715725;27901058;30379171;31429579;31848261;34087483;34405274;34409659;34415320;35051231;35253625;35494241;35967402;38050179;38253038;9514854;9822690", "class_list": "", "function": "A new hemizygous missense mutation, c.454TC (p.S152P), in AKAP4 gene is associated with asthenozoospermia., [RefSeq, PubMed]; Identification of CD8(+) T-cell epitope from multiple myeloma-specific antigen AKAP4. Publication Status: Online-Only, [RefSeq, PubMed]; Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development., [RefSeq, PubMed]; Major structural component of sperm fibrous sheath (PubMed:9822690). Plays a role in sperm motility (PubMed:34415320, PubMed:9822690)., [UniProtKB, PubMed, PubMed]; Silencing of A-kinase anchor protein 4 inhibits the metastasis and growth of non-small cell lung cancer., [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 localized to the sperm flagellum and may be involved in the regulation of sperm motility. Alternative splicing of this gene results in two 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": 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": 47, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0AV85;O60904;O95246;Q5JQD1;Q5JQD2;Q5JQD3", "ec_number_list": [], "go_molecular_function": "GO:0051018 protein kinase A binding", "go_cellular_component": "GO:0097229 sperm end piece;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0031514 motile cilium", "go_biological_process": "GO:0007165 signal transduction;GO:0007283 spermatogenesis;GO:0030317 flagellated sperm motility;GO:0007338 single fertilization;GO:0007178 cell surface receptor protein serine/threonine kinase signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q5JQC9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T1N1-1", "uniprot_id": [ { "id": "AKND1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T1N1", "type": "external" } ], "mass": 92864.0, "length": 836, "protein_name": "Protein AKNAD1", "gene_name": "AKNAD1", "organism": "Human", "refseq_name": "protein AKNAD1", "refseq_ac": [ { "id": "NP_689976", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689976", "type": "external" } ], "gene_names_uniprotkb": "AKNAD1; C1orf62", "gene_names_refseq": "AKNAD1; C1orf62", "protein_names_uniprotkb": "Protein AKNAD1", "protein_names_refseq": "protein AKNAD1", "tax_id": 9606, "disease": "", "pathway": " (hsa:254268)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;18452278;26292654;26992070;30379171;35254053;35494241", "class_list": "", "function": "A significant copy number variation in gene AKNAD1 associated with type-2 diabetes, was identified and experimentally validated. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 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": 2, "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": "B9EK62;Q5T1N0;Q8N990;Q8NCN9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q5T1N1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T2L2-1", "uniprot_id": [ { "id": "AKCL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T2L2", "type": "external" } ], "mass": 37133.0, "length": 326, "protein_name": "Aldo-keto reductase family 1 member C8", "gene_name": "AKR1C8", "organism": "Human", "refseq_name": "aldo-keto reductase family 1 member C8", "refseq_ac": [ { "id": "NP_001382901", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382901", "type": "external" } ], "gene_names_uniprotkb": "AKR1C8; AKR1C8P; AKR1CL1", "gene_names_refseq": "AKR1C8P; AKR1C8; AKR1CL1", "protein_names_uniprotkb": "Aldo-keto reductase family 1 member C8; 1.1.1.-; Aldo-keto reductase family 1 member C-like protein 1", "protein_names_refseq": "aldo-keto reductase family 1 member C-like protein 1; aldo-keto reductase family 1 member C8, pseudogene; aldo-keto reductase family 1 member C8; aldo-keto reductase family 1, member C-like 1; protein RAKc; putative aldo-keto reductase family 1 member C8", "tax_id": 9606, "disease": "", "pathway": " (hsa:340811)", "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": 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": "A0A3B3IRI8;A6NF66;Q6ZN81", "ec_number_list": [], "go_molecular_function": "GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006066 alcohol metabolic process;GO:0042445 hormone metabolic process;GO:0008202 steroid metabolic process;GO:0032787 monocarboxylic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5T2L2-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T7M4-1", "uniprot_id": [ { "id": "ADIPL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T7M4", "type": "external" } ], "mass": 32416.0, "length": 302, "protein_name": "Adipolin", "gene_name": "C1QTNF12", "organism": "Human", "refseq_name": "adipolin precursor", "refseq_ac": [ { "id": "NP_001014980", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014980", "type": "external" } ], "gene_names_uniprotkb": "C1QTNF12; C1QDC2; CTRP12; FAM132A", "gene_names_refseq": "C1QDC2; C1QTNF12; CTRP12; FAM132A", "protein_names_uniprotkb": "Adipolin; Adipolin cleaved form; Adipolin fCTRP12; Adipolin full-length form; Adipolin gCTRP12; Adipose-derived insulin-sensitizing factor; C1q and TNF related protein 12; Complement C1q tumor necrosis factor-related protein 12", "protein_names_refseq": "C1q and TNF related protein 12; C1q and tumor necrosis factor related protein 12; C1q domain containing 2; C1q/TNF-related protein 12; adipolin precursor; adipolin; adipose-derived insulin-sensitizing factor; complement C1q tumor necrosis factor-related protein 12; family with sequence similarity 132 member A; protein FAM132A", "tax_id": 9606, "disease": "", "pathway": " (hsa:388581)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "21849507;22275362;22736092;22942287;24492466;24612181;31405651;31405681;33248913;33692340;33965313;35008303;38253038", "class_list": "", "function": "CTRP12 ameliorates atherosclerosis by promoting cholesterol efflux and inhibiting inflammatory response via the miR-155-5p/LXRalpha pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Circulating C1q/TNF-related protein-12 levels are associated with the severity of coronary artery disease., [RefSeq, PubMed]; Endopeptidase cleavage generates a functionally distinct isoform of C1q/tumor necrosis factor-related protein-12 (CTRP12) with an altered oligomeric state and signaling specificity., [RefSeq, PubMed]; High CTRP12 expression is associated with obesity., [RefSeq, PubMed]; High Serum adipolin levels are associated with metabolic syndrome and prediabetes., [RefSeq, PubMed]; In subcutaneous adipose tissue explants, insulin significantly increased CTRP12 protein expression and secretion. Publication Status: Online-Only, [RefSeq, PubMed]; Insulin-sensitizing adipocyte-secreted protein (adipokine) that regulates glucose metabolism in liver and adipose tissue. Promotes glucose uptake in adipocytes and suppresses de novo glucose production in hepatocytes via the PI3K-Akt signaling pathway. Administration lead to reduction of blood glucose. Able to attenuate inflammation in fat tissue., [UniProtKB, UniProtKB]; Potential emerging roles of the novel adipokines adipolin/CTRP12 and meteorin-like/METRNL in obesity-osteoarthritis interplay., [RefSeq, PubMed]; Reports cloning, expression, regulation and function of mouse adipolin (Fam132a), [RefSeq, PubMed]; Serum adipolin concentrations were significantly lower in polycystic ovarian syndrome compared with control subjects., [RefSeq, PubMed]; We describe, for the first time, adipolin expression in human chondrocytes as well as the intracellular mechanism involved in its regulation, [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": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5EBL5", "ec_number_list": [], "go_molecular_function": "GO:0005179 hormone activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0046324 regulation of D-glucose import;GO:0045721 negative regulation of gluconeogenesis;GO:0046326 positive regulation of D-glucose import;GO:0046628 positive regulation of insulin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q5T7M4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TGY3-1", "uniprot_id": [ { "id": "AHDC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TGY3", "type": "external" } ], "mass": 168349.0, "length": 1603, "protein_name": "Transcription factor Gibbin", "gene_name": "AHDC1", "organism": "Human", "refseq_name": "transcription factor Gibbin", "refseq_ac": [ { "id": "NP_001025053", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025053", "type": "external" } ], "gene_names_uniprotkb": "AHDC1", "gene_names_refseq": "AHDC1; MRD25; XIGIS", "protein_names_uniprotkb": "Transcription factor Gibbin; AT-hook DNA-binding motif-containing protein 1", "protein_names_refseq": "AT-hook DNA-binding motif-containing protein 1; transcription factor Gibbin", "tax_id": 9606, "disease": "Xia-Gibbs Syndrome (Disease Ontology:DOID:0070055)", "pathway": " (hsa:27245)", "pathway_count": 1, "publication_count": 76, "publication_id_list": "16964243;17081983;17525332;18077418;18212344;18220336;18452278;18669648;19413330;19664995;19691289;20068231;23186163;24129315;24275569;24791903;25576301;25576336;26992070;27148574;27846572;28657654;28904123;29230160;29237092;29485866;29557506;29696776;30152016;30429286;30615951;30622101;30729726;30858058;31182893;31217245;31390932;31844290;32157095;32256298;32357974;32387766;32488085;32502341;32897882;32938616;32938750;33214551;33592498;33644933;33912179;33968037;33981976;34019948;34229113;34846842;34950897;35051231;35132862;35254053;35513511;35561310;35580925;35585237;35705054;36010968;36194562;36215666;36241641;36284347;37938771;38665916;39302247;39531497;39534244;40307207", "class_list": "", "function": "AT-hook DNA-binding motif-containing protein one knockdown downregulates EWS-FLI1 transcriptional activity in Ewing's sarcoma cells. Publication Status: Online-Only, [RefSeq, PubMed]; De novo heterozygous variants in AHDC1 gene were identified in two patients with partial growth hormone deficiency., [RefSeq, PubMed]; Gibbin mesodermal regulation patterns epithelial development., [RefSeq, PubMed]; Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder., [RefSeq, PubMed]; Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome., [RefSeq, PubMed]; Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1., [RefSeq, PubMed]; This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]., [RefSeq]; This study hasidentified AHDC1 de novo truncating mutations that most likely cause syndromic expressive language delay, hypotonia, and sleep apnea., [RefSeq, PubMed]; Transcription factor required for the proper patterning of the epidermis, which plays a key role in early epithelial morphogenesis (PubMed:35585237). Directly binds promoter and enhancer regions and acts by maintaining local enhancer-promoter chromatin architecture (PubMed:35585237). Interacts with many sequence-specific zinc-finger transcription factors and methyl-CpG-binding proteins to regulate the expression of mesoderm genes that wire surface ectoderm stratification (PubMed:35585237)., [UniProtKB, PubMed]; We unveiled that LINC01133 may function as a ceRNA for miR-4784 to advance AHDC1 expression, intensifying CC cell malignant phenotypes and EMT process, which may demonstrate the implied value of LINC01133 as a therapeutic target for CC patients., [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": 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": 19, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "Q5TGY4;Q6PJK1;Q6ZUQ6;Q99769;Q9NUF5", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0140585 promoter-enhancer loop anchoring activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005694 chromosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0030154 cell differentiation;GO:0001707 mesoderm formation;GO:0043589 skin morphogenesis", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q5TGY3-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P6B7-1", "uniprot_id": [ { "id": "ANR16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P6B7", "type": "external" } ], "mass": 39284.0, "length": 361, "protein_name": "Ankyrin repeat domain-containing protein 16", "gene_name": "ANKRD16", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 16 isoform a", "refseq_ac": [ { "id": "NP_001009941", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009941", "type": "external" } ], "gene_names_uniprotkb": "ANKRD16", "gene_names_refseq": "ANKRD16", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 16", "protein_names_refseq": "ankyrin repeat domain-containing protein 16 isoform a; ankyrin repeat domain-containing protein 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:54522)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "24714562;25418920;25892735;29557506;29769354;30379171;32357974;32938616;33298915;33717175;34171305;34357683;35051231", "class_list": "", "function": "Required to prevent the misactivation of serine (Ser) with tRNA(Ala) by promoting the hydrolysis of Ser-mischarged tRNA(Ala), thereby playing a role in translational fidelity. Binds directly to the catalytic domain of AARS/AlaRS and captures Ser that is misactivated by AARS/AlaRS, preventing the charging of Ser adenylates to tRNA(Ala) and precluding Ser misincorporation in nascent peptides., [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": 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": "A6NEF0;F8WEI4;Q9NT01", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006400 tRNA modification", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q6P6B7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXT8-1", "uniprot_id": [ { "id": "ALKL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXT8", "type": "external" } ], "mass": 14269.0, "length": 129, "protein_name": "ALK and LTK ligand 1", "gene_name": "ALKAL1", "organism": "Human", "refseq_name": "ALK and LTK ligand 1 precursor", "refseq_ac": [ { "id": "NP_997296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997296", "type": "external" } ], "gene_names_uniprotkb": "ALKAL1; FAM150A; PRO34745", "gene_names_refseq": "ALKAL1; AUGA; AUGB; FAM150A; UNQ9433", "protein_names_uniprotkb": "ALK and LTK ligand 1; AUG-beta; Augmentor beta", "protein_names_refseq": "ALK and LTK ligand 1 precursor; AUG-beta; RPLK9433; augmentor beta; augmentor-alpha; family with sequence similarity 150 member A; protein FAM150A", "tax_id": 9606, "disease": "", "pathway": " (hsa:389658); (R-HSA-201556); (R-HSA-9842663)", "pathway_count": 3, "publication_count": 89, "publication_id_list": "10.1038/emboj.2013.79;10445845;10587647;11110708;11121404;11278720;11280786;11607835;11751994;11850821;12122009;12424201;12934099;12975309;14563642;14695357;14962911;15226403;15308621;15317731;15374880;15588951;15592455;15895073;15938644;16153455;16170336;16317043;16825495;16871283;16878150;16939498;17038317;17086210;17185414;17274988;17353907;17681947;18070884;18097461;18724359;18849880;18923524;18990089;19459784;19815557;20548102;20632993;20719933;21154129;21345110;22162641;22286764;22347506;22439933;23201355;23239810;23584533;23889739;24060861;24356251;24670165;24736079;24947326;25331893;25342631;25421750;26418745;26464158;26630010;26708155;27780853;27846572;29317532;29380702;29455642;29873274;29964125;30061385;30692217;31585938;32502341;34646012;34819673;35051231;39365866;8633037;9223670;9819383", "class_list": "", "function": "Activation of ALK/LTK family receptors by small ALKAL proteins (FAM150, AUG) conserved in vertebrates, [RefSeq, PubMed]; Cytokine that acts as a physiological ligand for receptor tyrosine kinase LTK, leading to its activation (PubMed:25331893, PubMed:26418745, PubMed:26630010, PubMed:34646012, PubMed:34819673). Monomeric ALKAL1 binds to LTK, leading to LTK homodimerization and activation (PubMed:34646012, PubMed:34819673). In contrast to ALKAL2, does not act as a potent physiological ligand for ALK (PubMed:26418745, PubMed:34646012)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Data show that leukocyte tyrosine kinase (LTK) ligand FAM150A (augmentor-beta; AUG-beta) is specific for LTK and only weakly binds to anaplastic lymphoma kinase (ALK)., [RefSeq, PubMed]; In conclusion, these data show that ALK is robustly activated by the FAM150A/B ligands. Publication Status: Online-Only, [RefSeq, PubMed]; MerTK[+] macrophages promote melanoma progression and immunotherapy resistance through AhR-ALKAL1 activation., [RefSeq, PubMed]; Only two related secreted factors, FAM150A and FAM150B (family with sequence similarity 150 member A and member B), stimulated LTK 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": 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": 3, "reported_glycation": 0, "reported_snv": 3, "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": "B7ZMG9", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0030971 receptor tyrosine kinase binding;GO:0030298 receptor signaling protein tyrosine kinase activator activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0010976 positive regulation of neuron projection development;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0070378 positive regulation of ERK5 cascade", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q6UXT8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86SG2-1", "uniprot_id": [ { "id": "ANR23_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86SG2", "type": "external" } ], "mass": 34297.0, "length": 305, "protein_name": "Ankyrin repeat domain-containing protein 23", "gene_name": "ANKRD23", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 23", "refseq_ac": [ { "id": "NP_659431", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659431", "type": "external" } ], "gene_names_uniprotkb": "ANKRD23; DARP", "gene_names_refseq": "ANKRD23; DARP; MARP3", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 23; Diabetes-related ankyrin repeat protein; Muscle ankyrin repeat protein 3", "protein_names_refseq": "ankyrin repeat domain-containing protein 23; diabetes related ankyrin repeat protein; muscle ankyrin repeat protein 3", "tax_id": 9606, "disease": "congestive heart failure (Disease Ontology:DOID:6000); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:200539)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "12456686;14583192;25125175;28855257;31103742;33091337;33912179;35051231", "class_list": "", "function": "May be involved in the energy metabolism. Could be a molecular link between myofibrillar stretch-induced signaling pathways and muscle gene expression., [UniProtKB]; Report structure activity relationships for ANKRD23., [RefSeq, PubMed]; The promise of DARPin-siRNA bioconjugates for tumor targeting., [RefSeq, PubMed]; This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation. [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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q711K7;Q8NAJ7", "ec_number_list": [], "go_molecular_function": "GO:0000976 transcription cis-regulatory region binding;GO:0031432 titin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0014704 intercalated disc;GO:0031674 I band", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0009612 response to mechanical stimulus", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q86SG2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WK6-1", "uniprot_id": [ { "id": "AMGO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WK6", "type": "external" } ], "mass": 55239.0, "length": 493, "protein_name": "Amphoterin-induced protein 1", "gene_name": "AMIGO1", "organism": "Human", "refseq_name": "amphoterin-induced protein 1 precursor", "refseq_ac": [ { "id": "NP_065754", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065754", "type": "external" } ], "gene_names_uniprotkb": "AMIGO1; ALI2; AMIGO; KIAA1163", "gene_names_refseq": "ALI2; AMIGO-1; AMIGO1; AMIGO", "protein_names_uniprotkb": "Amphoterin-induced protein 1; AMIGO-1; Alivin-2", "protein_names_refseq": "alivin-2; amphoterin-induced gene and ORF; amphoterin-induced protein 1 precursor; amphoterin-induced protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57463)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10.1101/2023.09.13.557529;12629050;18669648;26240432;27600516;31530632;31844290;32350084;34171305;34357683;35051231;35251023;37217939", "class_list": "", "function": "AMIGO1 is identified as a candidate gene for human schizophrenia and related psychiatric disorders., [RefSeq, PubMed]; Promotes growth and fasciculation of neurites from cultured hippocampal neurons. May be involved in fasciculation as well as myelination of developing neural axons. May have a role in regeneration as well as neural plasticity in the adult nervous system. May mediate homophilic as well as heterophilic cell-cell interaction and contribute to signal transduction through its intracellular domain. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1., [UniProtKB, UniProtKB, UniProtKB]", "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": 3, "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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B4DIM3;Q8IW71;Q9ULQ7", "ec_number_list": [], "go_molecular_function": "GO:0015459 potassium channel regulator activity", "go_cellular_component": "GO:0016020 membrane;GO:0030425 dendrite;GO:0043204 perikaryon;GO:0008076 voltage-gated potassium channel complex;GO:0032809 neuronal cell body membrane", "go_biological_process": "GO:0007409 axonogenesis;GO:0010976 positive regulation of neuron projection development;GO:0042552 myelination;GO:0007420 brain development;GO:0051965 positive regulation of synapse assembly", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q86WK6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N7J2-1", "uniprot_id": [ { "id": "AMER2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N7J2", "type": "external" } ], "mass": 69507.0, "length": 671, "protein_name": "APC membrane recruitment protein 2", "gene_name": "AMER2", "organism": "Human", "refseq_name": "APC membrane recruitment protein 2 isoform 1", "refseq_ac": [ { "id": "NP_689917", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689917", "type": "external" } ], "gene_names_uniprotkb": "AMER2; FAM123A", "gene_names_refseq": "AMER2; FAM123A", "protein_names_uniprotkb": "APC membrane recruitment protein 2; Amer2; Protein FAM123A", "protein_names_refseq": "APC membrane recruitment protein 2 isoform 1; family with sequence similarity 123A; protein FAM123A", "tax_id": 9606, "disease": "", "pathway": " (hsa:219287)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "15345747;16959974;17925383;20843316;22128170;22898821;22949735;23481700;27846572;29557506;31154438;31217245;33141586;33392160", "class_list": "", "function": "Data characterize Amer2 for the first time as a negative regulator of Wnt signaling both in cell lines and in vivo and define Amer proteins as a novel family of Wnt pathway regulators., [RefSeq, PubMed]; FAM123A binds to microtubules and inhibits the guanine nucleotide exchange factor ARHGEF2 to decrease actomyosin contractility. Publication Status: Online-Only, [RefSeq, PubMed]; Negative regulator of the canonical Wnt signaling pathway involved in neuroectodermal patterning. 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., [UniProtKB, PubMed]; The Amer2-EB1-APC complex regulates cell migration by altering microtubule stability., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q5RL80;Q5VX56;Q8N593;Q96NN5", "ec_number_list": [], "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0016055 Wnt signaling pathway;GO:0060828 regulation of canonical Wnt signaling pathway;GO:0007398 ectoderm development", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8N7J2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TED9-1", "uniprot_id": [ { "id": "AF1L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TED9", "type": "external" } ], "mass": 86432.0, "length": 768, "protein_name": "Actin filament-associated protein 1-like 1", "gene_name": "AFAP1L1", "organism": "Human", "refseq_name": "actin filament-associated protein 1-like 1 isoform 2", "refseq_ac": [ { "id": "NP_001139809", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139809", "type": "external" } ], "gene_names_uniprotkb": "AFAP1L1", "gene_names_refseq": "AFAP1L1", "protein_names_uniprotkb": "Actin filament-associated protein 1-like 1; AFAP1-like protein 1", "protein_names_refseq": "AFAP1-like protein 1; actin filament-associated protein 1-like 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:134265)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "21333378;21516130;23326307;24723436;25576301;27600516;27862975;29323101;29393594;29557506;30429286;31844290;32157095;32265295;32387766;32938616;34087483;35051231;35580925;36215666;36631800;37737201;37938771", "class_list": "", "function": "AFAP1L1 has a role in the progression of spindle cell sarcomas and is a prognostic biomarker., [RefSeq, PubMed]; AFAP1L1 plays a role in the progression of colorectal cancer by modulating cell shape and motility and by inhibiting anoikis, presumably through interactions with vinculin-including protein complexes., [RefSeq, PubMed]; AFAP1L1 promotes cell proliferation, accelerates cell cycle progression, and prevents cell apoptosis in lung cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; AFAP1L1 promotes gastric cancer progression by interacting with VAV2 to facilitate CDC42-mediated activation of ITGA5 signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Data suggest that AFAP1L1 may forge unique protein interactions in which AFAP1 is less efficient, and these interactions may allow AFAP1L1 to affect invadosome formation., [RefSeq, PubMed]; Findings indicate a role for transcription factor Sp3 in sarcomas as a driver for expression of the metastasis-related gene AFAP1L1 (actin filament-associated protein 1-like 1)., [RefSeq, PubMed]; Hypoxia-induced AFAP1L1 regulates pathological neovascularization via the YAP-DLL4-NOTCH axis. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in podosome and invadosome formation., [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": 8, "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": "Q08AN4;Q08AN5;Q8IW82;Q8N8Z5;Q8N9Q4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0002102 podosome;GO:0001725 stress fiber;GO:0042995 cell projection", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q8TED9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96QP1-1", "uniprot_id": [ { "id": "ALPK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96QP1", "type": "external" } ], "mass": 138861.0, "length": 1244, "protein_name": "Alpha-protein kinase 1", "gene_name": "ALPK1", "organism": "Human", "refseq_name": "alpha-protein kinase 1 isoform 1", "refseq_ac": [ { "id": "NP_001095876", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095876", "type": "external" } ], "gene_names_uniprotkb": "ALPK1; KIAA1527; LAK", "gene_names_refseq": "8430410J10Rik; ALPK1; LAK; ROSAH", "protein_names_uniprotkb": "Alpha-protein kinase 1; 2.7.11.1; Chromosome 4 kinase; Lymphocyte alpha-protein kinase", "protein_names_refseq": "alpha-protein kinase 1 isoform 1; alpha-protein kinase 1; chromosome 4 kinase; lymphocyte alpha-kinase; lymphocyte alpha-protein kinase", "tax_id": 9606, "disease": "retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome (MONDO:MONDO:0013999)", "pathway": " (hsa:80216); (R-HSA-445989); (R-HSA-9645460)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10.1101/2023.09.13.557529;10021370;10702308;10723127;10838074;11237011;11323434;15145317;15221005;15327770;15492226;15883161;16056267;16186825;16260493;16289117;17047224;17135271;17344846;17496917;17728323;18462684;19675569;20332099;23481700;25505266;25576301;26375851;26389808;27169898;27701768;27846572;28218747;28222186;28228285;28832583;28834231;28877472;28904123;29242379;29437277;29557506;29786170;30111836;30315122;30429286;30455202;30484775;30779550;30967659;31154438;31844290;31848261;31939038;32157095;32161166;32357974;32488085;32938616;32983136;33037203;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34171305;34932366;35051231;35580925;35868845;36010968;36932045;38060563;38494837;39626775;39894887;8638164;9865693", "class_list": "", "function": "Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Hum Mol Genet. 2010 Oct 15;19(20):4121. Hesselbrock, Victor [added]; Tischfield, Jay A [added]], [RefSeq, PubMed]; Serine/threonine-protein kinase that detects bacterial pathogen-associated molecular pattern metabolites (PAMPs) and initiates an innate immune response, a critical step for pathogen elimination and engagement of adaptive immunity (PubMed:28222186, PubMed:28877472, PubMed:30111836). Specifically recognizes and binds ADP-D-glycero-beta-D-manno-heptose (ADP-Heptose), a potent PAMP present in all Gram-negative and some Gram-positive bacteria (PubMed:30111836). ADP-Heptose-binding stimulates its kinase activity to phosphorylate and activate TIFA, triggering pro-inflammatory NF-kappa-B signaling (PubMed:30111836, PubMed:35868845, PubMed:38060563). May be involved in monosodium urate monohydrate (MSU)-induced inflammation by mediating phosphorylation of unconventional myosin MYO9A (PubMed:27169898). May also play a role in apical protein transport by mediating phosphorylation of unconventional myosin MYO1A (PubMed:15883161). May play a role in ciliogenesis (PubMed:30967659)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The ALPK1/TIFA/NF-kappaB axis links a bacterial carcinogen to R-loop-induced replication stress. Publication Status: Online-Only, [RefSeq, PubMed]; The Role of ALPK1 in Inhibiting Hepatitis B Virus Replication Facilitates the Identification of ALPK1 P660L Variant for Predicting Response to Pegylated Interferon alpha Therapy., [RefSeq, PubMed]; The phosphorylation of myosin I by ALPK1 is an essential process in the apical trafficking of raft-associated sucrose-isomaltase, [RefSeq, PubMed]; The relationship of ALPK1, hyaluronic acid and M1 macrophage polarization in the temporomandibular joint synovitis., [RefSeq, PubMed]; This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found 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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 10, "reported_glycation": 0, "reported_snv": 37, "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": "B4E3G1;F5H138;Q68CI9;Q6P9F9;Q6ZNK4;Q9P201", "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": "2.3.2.23", "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": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "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:0048029 monosaccharide binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005929 cilium;GO:0036064 ciliary basal body", "go_biological_process": "GO:0045087 innate immune response;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0060271 cilium assembly;GO:0002753 cytoplasmic pattern recognition receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q96QP1-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99217-1", "uniprot_id": [ { "id": "AMELX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99217", "type": "external" } ], "mass": 21603.0, "length": 191, "protein_name": "Amelogenin, X isoform", "gene_name": "AMELX", "organism": "Human", "refseq_name": "amelogenin, X isoform isoform 1 precursor", "refseq_ac": [ { "id": "NP_001133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001133", "type": "external" } ], "gene_names_uniprotkb": "AMELX; AMGX; AMG", "gene_names_refseq": "AI1E; AIH1; ALGN; AMELX; AMGL; AMGX; AMG", "protein_names_uniprotkb": "Amelogenin, X isoform", "protein_names_refseq": "amelogenin (X chromosome, amelogenesis imperfecta 1); amelogenin (amelogenesis imperfecta 1, X-linked); amelogenin, X isoform isoform 1 precursor", "tax_id": 9606, "disease": "autosomal dominant hypocalcemia (Disease Ontology:DOID:0090109); amelogenesis imperfecta type 1E (Disease Ontology:DOID:0110058); amelogenesis imperfecta (Disease Ontology:DOID:2187)", "pathway": " (hsa:265); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 3, "publication_count": 80, "publication_id_list": "10026136;10077652;10218588;10512690;10614670;10669095;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;11922868;12241545;12379487;12466191;12810533;12904166;1370451;1383255;15111628;15126567;15308688;15469690;15485880;15525596;15642270;17047378;17249697;17312271;1734713;17985932;2004775;2476804;2479552;2509010;25789606;26091039;28228285;32084301;33656197;35886055;37563801;37985977;38409576;38892321;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7599636;7683646;7689487;7782077;8118759;8254123;8781553;8817670;8894645;8964575;9188994;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta. Publication Status: Online-Only, [RefSeq, PubMed]; AMELX gene association to early childhood caries in south-Indian children: a case-control study., [RefSeq, PubMed]; An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations Causing X-Linked Amelogenesis Imperfecta Alter miRNA Formation from Amelogenin Exon4., [RefSeq, PubMed]; Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel., [UniProtKB]; Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q96NW6;Q9UCA7", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0005509 calcium ion binding;GO:0008083 growth factor activity;GO:0030345 structural constituent of tooth enamel", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0009986 cell surface;GO:0031012 extracellular matrix;GO:0030139 endocytic vesicle;GO:0005604 basement membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007584 response to nutrient;GO:0042127 regulation of cell population proliferation;GO:0051592 response to calcium ion", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q99217-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYV1-1", "uniprot_id": [ { "id": "AGT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYV1", "type": "external" } ], "mass": 57156.0, "length": 514, "protein_name": "Alanine--glyoxylate aminotransferase 2, mitochondrial", "gene_name": "AGXT2", "organism": "Human", "refseq_name": "alanine--glyoxylate aminotransferase 2, mitochondrial isoform b precursor", "refseq_ac": [ { "id": "NP_001293102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293102", "type": "external" } ], "gene_names_uniprotkb": "AGXT2; AGT2", "gene_names_refseq": "AGT2; AGXT2; BAIBA; DAIBAT", "protein_names_uniprotkb": "Alanine--glyoxylate aminotransferase 2, mitochondrial; (R)-3-amino-2-methylpropionate--pyruvate transaminase; 2.6.1.18; 2.6.1.40; 2.6.1.44; AGT 2; Beta-ALAAT II; Beta-alanine-pyruvate aminotransferase; D-3-aminoisobutyrate-pyruvate aminotransferase; D-AIBAT; D-beta-aminoisobutyrate-pyruvate aminotransferase", "protein_names_refseq": "(R)-3-amino-2-methylpropionate--pyruvate transaminase; D-3-aminoisobutyrate-pyruvate aminotransferase; D-beta-aminoisobutyrate-pyruvate aminotransferase; alanine--glyoxylate aminotransferase 2, mitochondrial isoform b precursor; beta-ALAAT II; beta-alanine-pyruvate aminotransferase", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); atrial fibrillation (Disease Ontology:DOID:0060224); mild cognitive impairment (Disease Ontology:DOID:0080832); hypertension (Disease Ontology:DOID:10763); coronary artery disease (Disease Ontology:DOID:3393); cerebral infarction (Disease Ontology:DOID:3526); intermittent claudication (Disease Ontology:DOID:3669); congestive heart failure (Disease Ontology:DOID:6000); beta-aminoisobutyric acid, urinary excretion of (MONDO:MONDO:0008860)", "pathway": " (hsa:64902); (R-HSA-389661); (R-HSA-73621)", "pathway_count": 3, "publication_count": 66, "publication_id_list": "10364222;10484776;10524214;10681516;10777549;10899995;10978532;10989446;11083867;11133996;12124385;12352955;12849978;12865426;12899834;12947102;13681368;13681370;14170323;14725767;15340920;15385443;15802217;1590793;1601857;16377327;16616139;1703535;17088322;17669354;18215067;19291308;19352492;20018850;20603179;2129526;2157703;2158891;21998747;22516612;23023372;2344353;2363689;24586340;24834905;25697095;25747990;26858947;2826576;29557506;29769354;31154438;31818439;3416563;35961823;37120436;38261033;500817;6250440;7284378;7488099;7592550;8083224;9163533;9718352;9820813", "class_list": "", "function": "Alanine-glyoxylate aminotransferase-2 metabolizes endogenous methylarginines, regulates NO, and controls blood pressure., [RefSeq, PubMed]; Discusses the cloning of the rat gene., [RefSeq, PubMed]; Functional AGXT2 SNP rs180749 variant and depressive symptoms: Baseline data from the Aidai Cohort Study in Japan., [RefSeq, PubMed]; Functional AGXT2 SNP rs37369 Variant Is a Risk Factor for Diabetes Mellitus: Baseline Data From the Aidai Cohort Study in Japan., [RefSeq, PubMed]; Genetic loci of beta-aminoisobutyric acid are associated with aging-related mild cognitive impairment. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrially localized human AGXT2 is able to effectively metabolize ADMA in vivo resulting in decreased ADMA levels and improved endothelial NO production., [RefSeq, PubMed]; Multifunctional aminotransferase with a broad substrate specificity (PubMed:20018850, PubMed:23023372, PubMed:24586340). Catalyzes the conversion of glyoxylate to glycine using alanine as the amino donor (By similarity). Catalyzes metabolism of not L- but the D-isomer of D-beta-aminoisobutyric acid to generate 2-methyl-3-oxopropanoate and alanine (PubMed:24586340). Catalyzes the transfer of the amino group from beta-alanine to pyruvate to yield L-alanine and 3-oxopropanoate (By similarity). Can metabolize NG-monomethyl-L-arginine (NMMA), asymmetric NG,NG-dimethyl-L-arginine (ADMA) and symmetric NG,N'G-dimethyl-L-arginine (SDMA) (PubMed:20018850, PubMed:23023372). ADMA is a potent inhibitor of nitric-oxide (NO) synthase, and this activity provides mechanism through which the kidney regulates blood pressure (PubMed:20018850, PubMed:23023372)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 9, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7ZM47;E9PDL7;Q53FB4;Q53FY7;Q53G03;Q5W7Q1", "ec_number_list": [ { "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": "2.6.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.40", "type": "external" }, { "id": "2.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.18", "type": "external" } ], "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0008453 alanine-glyoxylate transaminase activity;GO:0047305 (R)-3-amino-2-methylpropionate-pyruvate transaminase activity;GO:0016223 beta-alanine:pyruvate transaminase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0045429 positive regulation of nitric oxide biosynthetic process;GO:0009436 glyoxylate catabolic process;GO:0019265 glycine biosynthetic process, by transamination of glyoxylate;GO:0019481 L-alanine catabolic process, by transamination;GO:2001299 N(omega),N(omega)-dimethyl-L-arginine catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9BYV1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2P0-1", "uniprot_id": [ { "id": "ADNP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2P0", "type": "external" } ], "mass": 123563.0, "length": 1102, "protein_name": "Activity-dependent neuroprotector homeobox protein", "gene_name": "ADNP", "organism": "Human", "refseq_name": "activity-dependent neuroprotector homeobox protein isoform 1", "refseq_ac": [ { "id": "NP_001269460", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269460", "type": "external" } ], "gene_names_uniprotkb": "ADNP; ADNP1; KIAA0784", "gene_names_refseq": "ADNP1; ADNP; HVDAS; MRD28", "protein_names_uniprotkb": "Activity-dependent neuroprotector homeobox protein; Activity-dependent neuroprotective protein", "protein_names_refseq": "ADNP homeobox 1; activity-dependent neuroprotective protein; activity-dependent neuroprotector homeobox protein isoform 1; activity-dependent neuroprotector", "tax_id": 9606, "disease": "Helsmoortel-Van Der Aa Syndrome (Disease Ontology:DOID:0070058); ischemia (Disease Ontology:DOID:326); brain infarction (Disease Ontology:DOID:3454)", "pathway": " (hsa:23394); (R-HSA-9940465)", "pathway_count": 2, "publication_count": 120, "publication_id_list": "11013255;11237011;11242053;17081983;17345061;17525332;17878164;18212344;18452278;18669648;19007248;19091000;19413330;19608861;19651622;19664995;19690332;19691289;19923857;20068231;21406692;23186163;23481700;24275569;24531329;24715725;25218447;25505266;25576301;25645385;25755297;25772364;25892735;26154972;26375851;26637798;26992070;27397612;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28649982;28832583;28834231;28904123;29237092;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29671580;29769354;29786170;29795351;30059200;30315122;30379171;30429286;31154438;31217245;31492838;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34185709;34561969;34932366;35051231;35132862;35154160;35251023;35254053;35289036;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37340703;37906146;37938771;38254177;38282129;38622540;38665916;39531497;39534244;40307207;40596516", "class_list": "", "function": "ADNP is expressed in many immune system cells. ADNP mRNA is reduced in PBMCs in MS. The peptide NAP, which plays an important role in neuroprotection, has potential immunomodulatory properties., [RefSeq, PubMed]; Activity-dependent neuroprotective protein constitutes a novel element in the SWI/SNF chromatin remodeling complex., [RefSeq, PubMed]; Clinical impact and in vitro characterization of ADNP variants in pediatric patients. Publication Status: Online-Only, [RefSeq, PubMed]; Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in transcriptional regulation. May mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation. Positively modulates WNT-beta-catenin/CTNN1B signaling, acting by regulating phosphorylation of, and thereby stabilizing, CTNNB1. May be required for neural induction and neuronal differentiation. May be involved in erythroid differentiation (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions. Publication Status: Online-Only, [RefSeq, PubMed]; Vasoactive intestinal peptide is a neuroprotective factor that has a stimulatory effect on the growth of some tumor cells and an inhibitory effect on others. This gene encodes a protein that is upregulated by vasoactive intestinal peptide and may be involved in its stimulatory effect on certain tumor cells. The encoded protein contains one homeobox and nine zinc finger domains, suggesting that it functions as a transcription factor. This gene is also upregulated in normal proliferative tissues. Finally, the encoded protein may increase the viability of certain cell types through modulation of p53 activity. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; [Helsmoortel-Van der Aa syndrome due to hotspot mutation of ADNP gene and a 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": 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": 31, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 3, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "E1P5Y2;O94881;Q5BKU2;Q9UG34", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0005507 copper ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0030424 axon;GO:0030425 dendrite;GO:0043025 neuronal cell body", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010629 negative regulation of gene expression;GO:0010976 positive regulation of neuron projection development;GO:0007614 short-term memory", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q9H2P0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H560-1", "uniprot_id": [ { "id": "ANR19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H560", "type": "external" } ], "mass": 30436.0, "length": 264, "protein_name": "Putative ankyrin repeat domain-containing protein 19", "gene_name": "ANKRD19P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ANKRD19P; ANKRD19", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative ankyrin repeat domain-containing protein 19; Ankyrin repeat domain-containing protein 19 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "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": 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": "A8K853;Q17RD3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q9H560-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCK5-1", "uniprot_id": [ { "id": "AGO4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCK5", "type": "external" } ], "mass": 97097.0, "length": 861, "protein_name": "Protein argonaute-4", "gene_name": "AGO4", "organism": "Human", "refseq_name": "protein argonaute-4", "refseq_ac": [ { "id": "NP_060099", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060099", "type": "external" } ], "gene_names_uniprotkb": "AGO4; EIF2C4; KIAA1567", "gene_names_refseq": "AGO4; EIF2C4", "protein_names_uniprotkb": "Protein argonaute-4; Argonaute RISC catalytic component 4; Argonaute4; Eukaryotic translation initiation factor 2C 4; eIF-2C 4; eIF2C 4; hAgo4", "protein_names_refseq": "argonaute 4, RISC catalytic component; argonaute RISC catalytic component 4; eukaryotic translation initiation factor 2C, 4; protein argonaute-4", "tax_id": 9606, "disease": "", "pathway": " (hsa:192670); (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": 634, "publication_id_list": 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"class_list": "", "function": "AGO4 suppresses tumor growth by modulating autophagy and apoptosis via enhancing TRIM21-mediated ubiquitination of GRP78 in a p53-independent manner., [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. Lacks endonuclease activity and does not appear to cleave target mRNAs. Also required for RNA-directed transcription and replication of the human hapatitis delta virus (HDV)., [UniProtKB, HAMAP, PubMed, PubMed, PubMed]; The Importance of AGO 1 and 4 in Post-Transcriptional Gene Regulatory Function of tRF5-GluCTC, an Respiratory Syncytial Virus-Induced tRNA-Derived RNA Fragment. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the Argonaute family of proteins which contain PAZ and PIWI domains and play an integral role in RNA interference and short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of related family members. [provided by RefSeq, Mar 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": 1, "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": "A7MD27", "ec_number_list": [], "go_molecular_function": "GO:0003725 double-stranded RNA binding;GO:0003727 single-stranded RNA binding;GO:0035198 miRNA binding;GO:0004521 RNA endonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0000932 P-body", "go_biological_process": "GO:0070922 RISC complex assembly;GO:0006402 mRNA catabolic process;GO:0031054 pre-miRNA processing;GO:0035194 regulatory ncRNA-mediated post-transcriptional gene silencing;GO:0035196 miRNA processing", "synthesized_glycan_count": 0, "hit_score": 63.5, "record_id": "Q9HCK5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKB5-1", "uniprot_id": [ { "id": "AJAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKB5", "type": "external" } ], "mass": 44536.0, "length": 411, "protein_name": "Adherens junction-associated protein 1", "gene_name": "AJAP1", "organism": "Human", "refseq_name": "adherens junction-associated protein 1 precursor", "refseq_ac": [ { "id": "NP_001035943", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035943", "type": "external" } ], "gene_names_uniprotkb": "AJAP1; MOT8; SHREW1", "gene_names_refseq": "AJAP1; MOT8; SHREW-1; SHREW1", "protein_names_uniprotkb": "Adherens junction-associated protein 1; Membrane protein shrew-1", "protein_names_refseq": "adherens junction-associated protein 1 precursor; adherens junction-associated protein 1; membrane protein shrew-1; transmembrane protein SHREW1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55966)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "14595118;16410724;16707570;17081983;17267690;18485053;18648515;19240061;31171012;34655124;35051231;37247081;38985877", "class_list": "", "function": "Adaptor protein complex AP-1B is involved in retaining shrew-1 at the basolateral membrane by postendocytic sorting mechanisms., [RefSeq, PubMed]; Based on disulfidptosis, revealing the prognostic and immunological characteristics of renal cell carcinoma with tumor thrombus of vena cava and identifying potential therapeutic target AJAP1., [RefSeq, PubMed]; LncRNA FGF14-AS2 represses growth of prostate carcinoma cells via modulating miR-96-5p/AJAP1 axis., [RefSeq, PubMed]; Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in cell adhesion and cell migration., [UniProtKB, PubMed, PubMed]; Shrew-1 has a function in the regulation of cellular invasion, which may involve its interaction with CD147, [RefSeq, PubMed]; Synergism between a signal peptide and a transmembrane segment to mediate plasma membrane localization is essential for structural and/or functional integrity of shrew-1, [RefSeq, PubMed]; This study demonstrated that AJAP1 acted as a putative tumor suppressor while beta-catenin nuclear localization positively fed back on EGF/EGFR-attenuated AJAP1 expression in breast cancer, which might be beneficial to develop new therapeutic targets for decreasing nuclear beta-catenin-mediated malignancy in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; While a mutation was not detected in the coding region of the SHREW1 gene in oligodendrogliomas, SHREW1 expression restoration resulted in suppression of cell adhesion and migration, thus, SHREW1 inactivation may lead to oligodendroglial tumorigenesis., [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": 8, "reported_glycation": 0, "reported_snv": 19, "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": "Q9Y229", "ec_number_list": [], "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0044877 protein-containing complex binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0009986 cell surface;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0001953 negative regulation of cell-matrix adhesion;GO:0061045 negative regulation of wound healing;GO:0030860 regulation of polarized epithelial cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9UKB5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4X0-1", "uniprot_id": [ { "id": "AMMR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4X0", "type": "external" } ], "mass": 35463.0, "length": 333, "protein_name": "Nuclear protein AMMECR1", "gene_name": "AMMECR1", "organism": "Human", "refseq_name": "nuclear protein AMMECR1 isoform 2", "refseq_ac": [ { "id": "NP_001020751", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020751", "type": "external" } ], "gene_names_uniprotkb": "AMMECR1", "gene_names_refseq": "AMMECR1; AMMERC1; MFHIEN", "protein_names_uniprotkb": "Nuclear protein AMMECR1; AMME syndrome candidate gene 1 protein", "protein_names_refseq": "AMME syndrome candidate gene 1 protein; nuclear protein AMMECR1 isoform 2; nuclear protein AMMECR1", "tax_id": 9606, "disease": "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (Disease Ontology:DOID:0111859); AMME complex (Disease Ontology:DOID:0111860)", "pathway": " (hsa:9949)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "10049589;11237011;15558565;23186163;24715725;25576301;25880248;26992070;27811305;27846572;28089922;28514659;28649982;28832583;28904123;29193635;29242379;30484775;30779550;31092671;31217245;31519561;31844290;32157095;32161166;32350084;32502341;33298915;33912179;33936100;33981976;34171305;34211107;34561969;35051231;35318648;36241641;36284347", "class_list": "", "function": "AMMECR1 plays a critical role in cell proliferation, cell-cycle progression, and apoptosis of human lung cancer cells, and may serve as a potential therapeutic target for non-small-cell lung cancer., [RefSeq, PubMed]; PH0010 from Pyrococcus horikoshii is highly homologous to human AMMECR 1C-terminal region, [RefSeq, PubMed]; Results suggest that AMMECR1 is potentially involved in cell cycle control and linked to a new syndrome with growth, bone, heart, and kidney alterations with or without elliptocytosis., [RefSeq, PubMed]; The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JYV9;Q6P9D8;Q8WX22;Q9UIQ8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9Y4X0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NGH8-1", "uniprot_id": [ { "id": "ANR61_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NGH8", "type": "external" } ], "mass": 46141.0, "length": 418, "protein_name": "Ankyrin repeat domain-containing protein 61", "gene_name": "ANKRD61", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 61", "refseq_ac": [ { "id": "NP_001258629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258629", "type": "external" } ], "gene_names_uniprotkb": "ANKRD61", "gene_names_refseq": "ANKRD61", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 61", "protein_names_refseq": "ankyrin repeat domain-containing protein 61", "tax_id": 9606, "disease": "", "pathway": " (hsa:100310846)", "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": 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_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NGH8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "C9J202-1", "uniprot_id": [ { "id": "AG1L2_HUMAN", "url": "https://www.uniprot.org/uniprot/C9J202", "type": "external" } ], "mass": 24154.0, "length": 215, "protein_name": "Putative glycosyltransferase ALG1L2", "gene_name": "ALG1L2", "organism": "Human", "refseq_name": "putative glycosyltransferase ALG1L2", "refseq_ac": [ { "id": "NP_001129624", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129624", "type": "external" } ], "gene_names_uniprotkb": "ALG1L2", "gene_names_refseq": "ALG1L2", "protein_names_uniprotkb": "Putative glycosyltransferase ALG1L2; 2.4.1.-", "protein_names_refseq": "asparagine-linked glycosylation 1-like 2; putative glycosyltransferase ALG1L2", "tax_id": 9606, "disease": "congenital disorder of glycosylation type I (Disease Ontology:DOID:0050570); congenital disorder of glycosylation Ik (Disease Ontology:DOID:0080563); congenital disorder of glycosylation (Disease Ontology:DOID:5212)", "pathway": " (hsa:644974)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;25892735;29557506;31154438;31217245;31844290;32265295", "class_list": "glycogene;glycosyltransferase", "function": "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 first mannose residues to the dolichol-linked oligosaccharide chain, to produce Man1GlcNAc(2)-PP-dolichol core oligosaccharide. Man1GlcNAc(2)-PP-dolichol is a substrate for ALG2, the following enzyme in the biosynthetic pathway., [UniProtKB, UniProtKB, UniProtKB]; Putative glycosyltransferase., [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": 351, "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": [ { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.142", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.142", "type": "external" } ], "go_molecular_function": "GO:0000030 mannosyltransferase activity;GO:0004578 chitobiosyldiphosphodolichol beta-mannosyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "C9J202-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "E9PGG2-1", "uniprot_id": [ { "id": "ANHX_HUMAN", "url": "https://www.uniprot.org/uniprot/E9PGG2", "type": "external" } ], "mass": 41695.0, "length": 379, "protein_name": "Anomalous homeobox protein", "gene_name": "ANHX", "organism": "Human", "refseq_name": "anomalous homeobox protein isoform 2", "refseq_ac": [ { "id": "NP_001177983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177983", "type": "external" } ], "gene_names_uniprotkb": "ANHX", "gene_names_refseq": "ANHX", "protein_names_uniprotkb": "Anomalous homeobox protein", "protein_names_refseq": "anomalous homeobox protein isoform 2; anomalous homeobox protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:647589)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;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": "Q96MC1", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "E9PGG2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10323-1", "uniprot_id": [ { "id": "ACRO_HUMAN", "url": "https://www.uniprot.org/uniprot/P10323", "type": "external" } ], "mass": 45847.0, "length": 421, "protein_name": "Acrosin", "gene_name": "ACR", "organism": "Human", "refseq_name": "acrosin precursor", "refseq_ac": [ { "id": "NP_001088", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001088", "type": "external" } ], "gene_names_uniprotkb": "ACR; ACRS", "gene_names_refseq": "ACR; SPGF87", "protein_names_uniprotkb": "Acrosin; 3.4.21.10", "protein_names_refseq": "acrosin light and heavy chain prepropeptide; acrosin precursor; preproacrosin; proacrosin", "tax_id": 9606, "disease": "spermatogenic failure 87 (Disease Ontology:DOID:0070586)", "pathway": " (hsa:49); (R-HSA-1300645)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "11080640;11237011;11839395;1628652;18477386;19335925;19658160;2114285;2298447;23297503;23675907;2493394;25645385;29317506;29557506;30428044;36010968;36215666;37004249;37217939;37833433;7521127", "class_list": "", "function": "Acrosin is the major protease of mammalian spermatozoa. It is a serine protease of trypsin-like cleavage specificity, it is synthesized in a zymogen form, proacrosin and stored in the acrosome., [UniProtKB, PubMed]; Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It is a typical serine proteinase with trypsin-like specificity. It is stored in the acrosome in its precursor form, proacrosin. The active enzyme functions in the lysis of the zona pellucida, thus facilitating penetration of the sperm through the innermost glycoprotein layers of the ovum. The mRNA for proacrosin is synthesized only in the postmeiotic stages of spermatogenesis. In humans proacrosin first appears in the haploid spermatids. [provided by RefSeq, Jul 2008]., [RefSeq]; Data indicate that the positive expression of studied genes fertilization rate for GAPDHS positive subset was 66%, ACR - 71%, SPATA22 - 68%, MND1 - 70%, pregnancy rates were 8%, 6%, 18% and 36% respectively. Publication Status: Online-Only, [RefSeq, PubMed]; Low acrosin activity is associated with decreased Spam1/acrosin expression and GSH deficiency-caused premature acrosome release of human sperm cells., [RefSeq, PubMed]; Sperm DNA damage is closely related with sperm-nucleoprotein transition, acrosin activity and seminal parameters., [RefSeq, PubMed]; Study revealed significantly higher acrosin activity and a lower DNA fragmentation index in subjects with moderate or high mitochondrial membrane potential (MMP) compared to those with low MMP., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 16, "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": "Q6ICK2", "ec_number_list": [ { "id": "3.4.21.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.10", "type": "external" } ], "go_molecular_function": "GO:0002020 protease binding;GO:0003677 DNA binding;GO:0004252 serine-type endopeptidase activity;GO:0008270 zinc ion binding;GO:0005507 copper ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005798 Golgi-associated vesicle;GO:0043159 acrosomal matrix;GO:0032991 protein-containing complex", "go_biological_process": "GO:0007190 activation of adenylate cyclase activity;GO:0007338 single fertilization;GO:0007340 acrosome reaction;GO:0048545 response to steroid hormone;GO:0002077 acrosome matrix dispersal", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "P10323-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14561-1", "uniprot_id": [ { "id": "ACPM_HUMAN", "url": "https://www.uniprot.org/uniprot/O14561", "type": "external" } ], "mass": 17417.0, "length": 156, "protein_name": "Acyl carrier protein, mitochondrial", "gene_name": "NDUFAB1", "organism": "Human", "refseq_name": "acyl carrier protein, mitochondrial precursor", "refseq_ac": [ { "id": "NP_004994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004994", "type": "external" } ], "gene_names_uniprotkb": "NDUFAB1", "gene_names_refseq": "ACP1; ACP; FASN2A; NDUFAB1; SDAP", "protein_names_uniprotkb": "Acyl carrier protein, mitochondrial; ACP; CI-SDAP; NADH-ubiquinone oxidoreductase 9.6 kDa subunit", "protein_names_refseq": "CI-SDAP; NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa; NADH-ubiquinone oxidoreductase 9.6 kDa subunit; NADH:ubiquinone oxidoreductase SDAP subunit; acyl carrier protein, mitochondrial precursor; acyl carrier protein, mitochondrial; complex I SDAP subunit; mitochondrial acyl carrier protein", "tax_id": 9606, "disease": "neurodegeneration with brain iron accumulation (Disease Ontology:DOID:0110734)", "pathway": " (hsa:4706); (R-HSA-611105); (R-HSA-6799198); (R-HSA-77289); (R-HSA-9857492); (R-HSA-9937383)", "pathway_count": 6, "publication_count": 119, "publication_id_list": "10103005;10327278;11220739;11237011;11389890;11695836;11696000;12231006;12611891;12837546;12882974;1327877;14741580;15250827;15638818;16230336;16423998;16934754;16940157;17033964;17762044;17936786;17953517;18268358;186667;19170545;19570983;19752196;19892738;20186120;20338778;20406883;20470824;20552642;20858599;21237683;21846720;21924235;21930947;22152680;22465940;22586271;22871024;23150584;23157686;23270816;23481700;23553477;23564345;23700546;23747254;23901139;239860;24080521;24191001;24256811;24341803;24715725;24732803;25002576;25564869;25678554;25810538;26154972;26290611;26375851;27029019;27499296;27626371;27846572;28510447;28757203;28832583;28855257;28892042;28904123;29493099;29557506;29786170;29987032;30215512;31042466;31611695;31664822;31666358;31844290;31866046;32157095;32320651;32357974;32502341;32938616;33141586;33243891;33298915;33392160;33592498;33878294;33879611;33882309;33936100;34211107;34357683;35051231;35177605;35333655;35580925;35614220;36284347;37453661;37481209;37938771;38039071;38199007;4288886;4721607;8241273;9571201;9878551", "class_list": "", "function": "Carrier of the growing fatty acid chain in fatty acid biosynthesis (By similarity) (PubMed:27626371). Accessory and non-catalytic subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain (PubMed:27626371). Accessory protein, of the core iron-sulfur cluster (ISC) assembly complex, that regulates, in association with LYRM4, the stability and the cysteine desulfurase activity of NFS1 and participates in the [2Fe-2S] clusters assembly on the scaffolding protein ISCU (PubMed:31664822). The core iron-sulfur cluster (ISC) assembly complex is involved in the de novo synthesis of a [2Fe-2S] cluster, the first step of the mitochondrial iron-sulfur protein biogenesis. This process is initiated by the cysteine desulfurase complex (NFS1:LYRM4:NDUFAB1) that produces persulfide which is delivered on the scaffold protein ISCU in a FXN-dependent manner. Then this complex is stabilized by FDX2 which provides reducing equivalents to accomplish the [2Fe-2S] cluster assembly. Finally, the [2Fe-2S] cluster is transferred from ISCU to chaperone proteins, including HSCB, HSPA9 and GLRX5 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB]; Carrier of the growing fatty acid chain in fatty acid biosynthesis., [UniProtKB, UniProtKB, UniProtKB]; Substrate Sequestration and Chain Flipping in Human Mitochondrial Acyl Carrier 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": 1, "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": "B2R4M1;Q9UNV1", "ec_number_list": [], "go_molecular_function": "GO:0005504 fatty acid binding;GO:0005198 structural molecule activity;GO:0005509 calcium ion binding;GO:0000035 acyl binding;GO:0000036 acyl carrier activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0031966 mitochondrial membrane;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0006633 fatty acid biosynthetic process;GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0009249 protein lipoylation;GO:0042776 proton motive force-driven mitochondrial ATP synthesis", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "O14561-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75106-1", "uniprot_id": [ { "id": "AOC2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75106", "type": "external" } ], "mass": 83673.0, "length": 756, "protein_name": "Amine oxidase [copper-containing] 2", "gene_name": "AOC2", "organism": "Human", "refseq_name": "amine oxidase [copper-containing] 2 isoform a", "refseq_ac": [ { "id": "NP_001149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001149", "type": "external" } ], "gene_names_uniprotkb": "AOC2", "gene_names_refseq": "AOC2; DAO2; RAO; SSAO", "protein_names_uniprotkb": "Amine oxidase [copper-containing] 2; 1.4.3.21; Amine oxidase copper-containing 2; RAO; Retina-specific copper amine oxidase; SSAO; Semicarbazide-sensitive amine oxidase", "protein_names_refseq": "amine oxidase [copper-containing] 2 isoform a; amine oxidase [copper-containing] 2; amine oxidase, copper containing 2 (retina-specific); retina-specific copper amine oxidase; semicarbazide-sensitive amine oxidase", "tax_id": 9606, "disease": "", "pathway": " (hsa:314); (R-HSA-211945)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "10445380;10945627;11154734;11422004;12725862;12732646;12755418;1351198;15350128;15492766;15523003;15535985;16614850;16765324;17400359;18254726;18256025;18285471;19053771;19588076;19764817;20007405;20177059;20422440;20542992;22700792;22813719;23616950;23953689;24423752;24677340;24900196;25144769;25425164;25446851;25923589;27766585;2897122;29557506;29741879;30429286;32152082;32171872;32187464;32205870;32210741;35051231;39894887;7980644;8985016;9119395;9169443;9367528;9653080;9722954", "class_list": "", "function": "AOC2 mRNA is expressed in many tissues, however, the only tissues with detectable AOC2-like enzyme activity is found in the eye., [RefSeq, PubMed]; Adipose tissue SSAO activity did not vary according to anatomical location and/or metabolic status in severely obese women. Erratum:[J Physiol Biochem. 2017 Nov;73(4):623. doi: 10.1007/s13105-017-0593-x. PMID: 28983875], [RefSeq, PubMed]; Catalyzes the oxidative deamination of primary amines to the corresponding aldehydes with the concomitant production of hydrogen peroxide and ammonia (PubMed:19588076). Has a preference for 2-phenylethylamine, tryptamine and tyramine (PubMed:19588076). Could also act on methylamine and benzylamine but much less efficiently (PubMed:19588076)., [UniProtKB, PubMed]; Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [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": 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": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A5PKW2;O00120;O75105;Q4TTW5;Q9UNY0", "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:0009055 electron transfer activity;GO:0005507 copper ion binding;GO:0008131 primary methylamine oxidase activity;GO:0048038 quinone binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0006805 xenobiotic metabolic process;GO:0007601 visual perception;GO:0006584 catecholamine metabolic process;GO:0009308 amine metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "O75106-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16860-1", "uniprot_id": [ { "id": "ANFB_HUMAN", "url": "https://www.uniprot.org/uniprot/P16860", "type": "external" } ], "mass": 14726.0, "length": 134, "protein_name": "Natriuretic peptides B", "gene_name": "NPPB", "organism": "Human", "refseq_name": "natriuretic peptides B preproprotein", "refseq_ac": [ { "id": "NP_002512", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002512", "type": "external" } ], "gene_names_uniprotkb": "NPPB", "gene_names_refseq": "BNP; Iso-ANP; NPPB", "protein_names_uniprotkb": "Natriuretic peptides B; BNP; Brain natriuretic factor prohormone; Brain natriuretic peptide; Gamma-brain natriuretic peptide; Iso-ANP; NT-pro-BNP; NT-proBNP(1-76); des-SerPro-BNP; preproBNP; proBNP(79-108); proBNP", "protein_names_refseq": "brain natriuretic factor prohormone; brain type natriuretic peptide; gamma-brain natriuretic peptide; natriuretic peptide precursor B; natriuretic peptides B preproprotein; natriuretic peptides B; natriuretic protein; preproBNP; proBNP", "tax_id": 9606, "disease": "left ventricular failure (Disease Ontology:DOID:0051064); polycystic kidney disease (Disease Ontology:DOID:0080322); COVID-19 (Disease Ontology:DOID:0080600); renal hypertension (Disease Ontology:DOID:1073); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); sickle cell anemia (Disease Ontology:DOID:10923); adult respiratory distress syndrome (Disease Ontology:DOID:11394); heart disease (Disease Ontology:DOID:114); hypertensive heart disease (Disease Ontology:DOID:11516); morbid obesity (Disease Ontology:DOID:11981); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); dilated cardiomyopathy (Disease Ontology:DOID:12930); Kawasaki disease (Disease Ontology:DOID:13378); atherosclerosis (Disease Ontology:DOID:1936); nephrosis (Disease Ontology:DOID:2527); acute kidney failure (Disease Ontology:DOID:3021); liver cirrhosis (Disease Ontology:DOID:5082); proteinuria (Disease Ontology:DOID:576); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); migraine (Disease Ontology:DOID:6364); pulmonary hypertension (Disease Ontology:DOID:6432); end stage renal disease (Disease Ontology:DOID:783); chronic kidney disease (Disease Ontology:DOID:784); hyperhomocysteinemia (Disease Ontology:DOID:9279); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary embolism (Disease Ontology:DOID:9477); systolic heart failure (Disease Ontology:DOID:9651); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:4879)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "10.1074/mcp.M114.046862;10880574;11410403;16254193;1672777;16750161;16870210;17115710;17349887;17367664;17372040;17881654;18339697;18466803;1914098;19808300;20489134;20837460;21098034;21314817;2136732;2138890;21482747;21763278;2522777;25339504;25813380;2597152;27846572;29557506;32305557;32337544;32434874;32596365;33141586;38522572;38555650;38743452;39034759;9458824;9794555", "class_list": "", "function": "Association of depressive symptoms with cardiovascular events and plasma BNP: A prospective cohort study of the elderly Chinese population., [RefSeq, PubMed]; B-type natriuretic peptide levels predict long-term mortality in a large cohort of adults with congenital heart disease., [RefSeq, PubMed]; Brain-type natriuretic peptide (hBNP-32) is an antimicrobial peptide active against Gram-positive and Gram-negative bacteria and yeast., [RefSeq, PubMed]; Cardiac hormone that plays a key role in mediating cardio-renal homeostasis (PubMed:1672777, PubMed:17372040, PubMed:1914098, PubMed:9458824). May also function as a paracrine antifibrotic factor in the heart (By similarity). Acts by specifically binding and stimulating NPR1 to produce cGMP, which in turn activates effector proteins that drive various biological responses (PubMed:1672777, PubMed:17349887, PubMed:17372040, PubMed:21098034, PubMed:25339504, PubMed:9458824). Involved in regulating the extracellular fluid volume and maintaining the fluid-electrolyte balance through natriuresis, diuresis, vasorelaxation, and inhibition of renin and aldosterone secretion (PubMed:1914098, PubMed:9458824). Binds the clearance receptor NPR3 (PubMed:16870210)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Increased Systemic Levels of Centrally Acting B-Type Natriuretic Peptide Are Associated with Chronic Itch of Different Types., [RefSeq, PubMed]; May affect cardio-renal homeostasis (PubMed:17372040). Able to promote the production of cGMP although its potency is very low compared to brain natriuretic peptide 32 (PubMed:17372040)., [UniProtKB, PubMed]; May have a role in cardio-renal homeostasis (PubMed:17372040). Able to promote the production of cGMP (PubMed:17372040)., [UniProtKB, PubMed]; Plasma concentrations of peptide hormones: Unrealistic levels of vasopressin (AVP), oxytocin (OXT), and brain natriuretic peptide (BNP). Review article, [RefSeq, PubMed]; This gene is a member of the natriuretic peptide family and encodes a secreted protein which functions as a cardiac hormone. The protein undergoes two cleavage events, one within the cell and a second after secretion into the blood. The protein's biological actions include natriuresis, diuresis, vasorelaxation, inhibition of renin and aldosterone secretion, and a key role in cardiovascular homeostasis. A high concentration of this protein in the bloodstream is indicative of heart failure. The presence of myocardial injury is a significant predictor of mortality in hospitalized coronavirus disease 2019 (COVID-19) patients, and there is evidence of increased levels of natriuretic peptide B in hospitalized non-survivor COVID-19 patients. The protein also acts as an antimicrobial peptide with antibacterial and antifungal activity. Mutations in this gene have been associated with postmenopausal osteoporosis. [provided by RefSeq, Aug 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": 8, "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": 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": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "monitoring; risk; prognostic", "glycan_count": 1, "disease_count": 31, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B0ZBE9;Q6FGY0;Q9P2Q7", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005179 hormone activity;GO:0051427 hormone receptor binding;GO:0008613 diuretic hormone activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006182 cGMP biosynthetic process;GO:0007166 cell surface receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0008217 regulation of blood pressure;GO:0035810 positive regulation of urine volume", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "P16860-1", "record_type": "protein", "filter_code": "0101100.1100111.100000.000000000001000000.0100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21397-1", "uniprot_id": [ { "id": "AOFA_HUMAN", "url": "https://www.uniprot.org/uniprot/P21397", "type": "external" } ], "mass": 59682.0, "length": 527, "protein_name": "Amine oxidase [flavin-containing] A", "gene_name": "MAOA", "organism": "Human", "refseq_name": "amine oxidase [flavin-containing] A isoform 1", "refseq_ac": [ { "id": "NP_000231", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000231", "type": "external" } ], "gene_names_uniprotkb": "MAOA", "gene_names_refseq": "BRNRS; MAO-A; MAOA", "protein_names_uniprotkb": "Amine oxidase [flavin-containing] A; 1.4.3.21; 1.4.3.4; MAO-A; Monoamine oxidase type A", "protein_names_refseq": "amine oxidase [flavin-containing] A isoform 1; amine oxidase [flavin-containing] A; monoamine oxidase type A", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); Brunner Syndrome (Disease Ontology:DOID:0060693); Alzheimer's disease (Disease Ontology:DOID:10652); alcohol use disorder (Disease Ontology:DOID:1574); panic disorder (Disease Ontology:DOID:594); migraine (Disease Ontology:DOID:6364)", "pathway": " (hsa:4128); (R-HSA-141333); (R-HSA-181430); (R-HSA-379397); (R-HSA-379398); (R-HSA-379401); (R-HSA-380612); (R-HSA-5579012); (R-HSA-6785807)", "pathway_count": 9, "publication_count": 168, "publication_id_list": "10023775;10219247;10369418;10510379;10586089;10867011;11058569;11084045;11104795;11120780;11159700;11237011;11278437;11278729;11356008;11357798;11404481;11463377;11812236;11960372;12223527;12242343;12519779;12600988;12832402;13416264;1432104;14634100;14712222;15027868;15110846;15116091;15261459;15584925;15805299;15869882;15935055;15950906;15974574;16007214;16048438;16107692;16129825;16205632;16236134;16397018;16451196;16510571;16540365;16606674;16959974;17010132;1705137;17301226;17427945;17458857;17478680;17572495;17766642;17891149;18243101;18353781;18391214;18426226;18447642;18644974;18794526;1886775;18953341;19124156;19185846;19397496;19645722;2023912;20493079;20493732;20976142;21102457;21179162;21200377;21252155;21377879;21680183;21689689;21730069;21937440;21994466;22046235;22205702;22383755;22693070;22851691;23086340;23124025;23172665;23455323;23555662;23967200;24097101;24139167;24169519;24743777;24847974;25234944;26316187;2764901;27862975;29493099;29557506;30379171;31045589;31154438;3178846;31844290;32157095;32983136;33043033;33592498;3387449;33968037;34087483;34171305;3418353;34185709;35051231;35580925;36010968;37938771;38870841;39273170;4016087;4398930;6408492;6788990;7510216;7512451;7519662;7529288;7703232;7795521;7796300;7898939;7907877;8085155;8095030;8211186;8316221;8515683;8584674;8602263;8621622;8663118;8668165;8778744;8797861;8816495;8875133;9013879;9260930;9537821;9564636;9651359;9701566;9723655;9736340;9799080;9822675;9874564", "class_list": "", "function": "Association between serum catecholamine levels and VNTR polymorphism in the promoter region of the monoamine oxidase A gene in forensic autopsy cases., [RefSeq, PubMed]; Catalyzes the oxidative deamination of primary and some secondary amine such as neurotransmitters, with concomitant reduction of oxygen to hydrogen peroxide and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues (PubMed:18391214, PubMed:20493079, PubMed:24169519, PubMed:8316221). Preferentially oxidizes serotonin (PubMed:20493079, PubMed:24169519). Also catalyzes the oxidative deamination of kynuramine to 3-(2-aminophenyl)-3-oxopropanal that can spontaneously condense to 4-hydroxyquinoline (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Impact of MAOA Gene Polymorphism on the Efficacy of Antidepressant Treatment and Craving Severity for Betel Quid Use Disorder. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin. Mutation of this gene results in Brunner syndrome. This gene has also been associated with a variety of other psychiatric disorders, including antisocial behavior. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [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": 8, "reported_glycation": 0, "reported_snv": 11, "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": "B4DF46;Q16426", "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:0008131 primary methylamine oxidase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane", "go_biological_process": "GO:0042428 serotonin metabolic process;GO:0042420 dopamine catabolic process;GO:0006576 biogenic amine metabolic process;GO:0019607 phenylethylamine catabolic process;GO:0042429 serotonin catabolic process", "synthesized_glycan_count": 0, "hit_score": 17.1, "record_id": "P21397-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23582-1", "uniprot_id": [ { "id": "ANFC_HUMAN", "url": "https://www.uniprot.org/uniprot/P23582", "type": "external" } ], "mass": 13246.0, "length": 126, "protein_name": "C-type natriuretic peptide", "gene_name": "NPPC", "organism": "Human", "refseq_name": "C-type natriuretic peptide preproprotein", "refseq_ac": [ { "id": "NP_077720", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077720", "type": "external" } ], "gene_names_uniprotkb": "NPPC; CNP2", "gene_names_refseq": "CNP2; CNP; NPPC", "protein_names_uniprotkb": "C-type natriuretic peptide", "protein_names_refseq": "C-type natriuretic peptide preproprotein; C-type natriuretic peptide; natriuretic peptide precursor type C", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); heart disease (Disease Ontology:DOID:114); toxic shock syndrome (Disease Ontology:DOID:14115); depressive disorder (Disease Ontology:DOID:1596); aortic valve stenosis (Disease Ontology:DOID:1712); osteochondrodysplasia (Disease Ontology:DOID:2256); arteriosclerosis (Disease Ontology:DOID:2349); achondroplasia (Disease Ontology:DOID:4480); end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:4880); (R-HSA-5578768)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10.1038/emboj.2013.79;10880574;11533490;1339402;14559895;1472040;15146390;1672777;17660514;19934029;2018508;21098034;2144260;23584533;25202235;26817948;26990595;28834231;29941213;31222486;31893950;32157095;32268070;32506827;33691108;34171305;35120671;37493451;9794555", "class_list": "", "function": "A novel variant of NPPC causes abnormal post-translational cleavage: A candidate gene for premature ovarian insufficiency., [RefSeq, PubMed]; C-type natriuretic peptide (CNP)/guanylate cyclase B (GC-B) system and endothelin-1(ET-1)/ET receptor A and B system in human vasculature., [RefSeq, PubMed]; C-type natriuretic peptide induces inotropic and lusitropic effects in human 3D-engineered cardiac tissue: Implications for the regulation of cardiac function in humans., [RefSeq, PubMed]; CNP, via guanylyl cyclase-B/cyclic GMP signaling, stabilizes resident perivascular mast cells at baseline and prevents their excessive activation under pathological conditions., [RefSeq, PubMed]; Hormone which plays a role in endochondral ossification through regulation of cartilaginous growth plate chondrocytes proliferation and differentiation (By similarity). May also be vasoactive and natriuretic (PubMed:1672777). Acts by specifically binding and stimulating NPR2 to produce cGMP (PubMed:1672777, PubMed:21098034). Binds the clearance receptor NPR3 (PubMed:11533490)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cardiac natriuretic peptides CNP-53, CNP-29 and CNP-22, which belong to the natriuretic family of peptides. The encoded peptides exhibit vasorelaxation activity in laboratory animals and elevated levels of CNP-22 have been observed in the plasma of chronic heart failure patients. [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q4ZG41", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005179 hormone activity;GO:0051427 hormone receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0030141 secretory granule;GO:0032991 protein-containing complex", "go_biological_process": "GO:0035483 gastric emptying;GO:0001525 angiogenesis;GO:0002931 response to ischemia;GO:0006182 cGMP biosynthetic process;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "P23582-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P24298-1", "uniprot_id": [ { "id": "ALAT1_HUMAN", "url": "https://www.uniprot.org/uniprot/P24298", "type": "external" } ], "mass": 54637.0, "length": 496, "protein_name": "Alanine aminotransferase 1", "gene_name": "GPT", "organism": "Human", "refseq_name": "alanine aminotransferase 1", "refseq_ac": [ { "id": "NP_005300", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005300", "type": "external" } ], "gene_names_uniprotkb": "GPT; AAT1; GPT1", "gene_names_refseq": "AAT1; ALT1; ALT; GPT1; GPT; SGPT", "protein_names_uniprotkb": "Alanine aminotransferase 1; 2.6.1.2; ALT1; GPT 1; Glutamate pyruvate transaminase 1; Glutamic--alanine transaminase 1; Glutamic--pyruvic transaminase 1", "protein_names_refseq": "alanine aminotransferase 1; alanine aminotransferase; glutamate pyruvate transaminase 1; glutamic--pyruvic transaminase 1; glutamic-alanine transaminase 1; glutamic-pyruvate transaminase (alanine aminotransferase); serum glutamate-pyruvate transaminase; serum glutamic-pyruvic transaminase", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); obstructive jaundice (Disease Ontology:DOID:13603); acute kidney failure (Disease Ontology:DOID:3021); liver cancer (Disease Ontology:DOID:3571); liver cirrhosis (Disease Ontology:DOID:5082); myocardial infarction (Disease Ontology:DOID:5844); amino acid metabolic disorder (Disease Ontology:DOID:9252); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:2875); (R-HSA-70268); (R-HSA-8964540)", "pathway_count": 3, "publication_count": 62, "publication_id_list": "11276087;11377399;11863375;11945601;12121650;12962632;14596586;15551868;15870898;18351441;1931970;1935931;19679512;1993674;1996957;20068231;20376881;21156174;22628558;23284632;24275569;2440048;24998673;25043373;25202825;25575590;25594249;26477546;27166188;27317664;27893789;29472561;29557506;30524438;31154438;32171076;32234718;32259132;32311826;32403431;32438331;32589600;32669866;33064660;33109704;34185709;3435492;35051231;35580925;36215666;36417180;37403787;37752709;38089616;38172739;38305614;4822737;7757881;7818469;8726225;9119391;9705294", "class_list": "", "function": "Alanine aminotransferase to high- density lipoprotein cholesterol ratio is positively correlated with the occurrence of diabetes in the Chinese population: a population-based cohort study. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate. Participates in cellular nitrogen metabolism and also in liver gluconeogenesis starting with precursors transported from skeletal muscles (By similarity)., [UniProtKB]; Prevalence and metabolic determinants of abnormal alanine aminotransferase: A cross-sectional study of Iranian adults, 2018-2022., [RefSeq, PubMed]; Role of alanine aminotransferase in the effects of urinary caffeine concentration and its primary metabolite concentration on cognitive function in older adults: Bayesian Kernel Machine regression analysis and mediation analysis., [RefSeq, PubMed]; Sex Differences in the Association Between AST/ALT and Incidence of Type 2 Diabetes in Japanese Patients with Nonalcoholic Fatty Liver Disease: A Retrospective Cohort Study., [RefSeq, PubMed]; The correlation between serum total bile acid and alanine aminotransferase of pregnant women and the disorders of neonatal hyperbilirubinemia-related amino acid metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism of glucose and amino acids. Serum activity levels of this enzyme are routinely used as a biomarker of liver injury caused by drug toxicity, infection, alcohol, and steatosis. A related gene on chromosome 16 encodes a putative mitochondrial alanine aminotransaminase.[provided by RefSeq, Nov 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "prognostic; monitoring", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B0YJ18;D3DWM7;P78398;Q93076", "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:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0042853 L-alanine catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "P24298-1", "record_type": "protein", "filter_code": "0101000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXW9-1", "uniprot_id": [ { "id": "ALKB4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXW9", "type": "external" } ], "mass": 33838.0, "length": 302, "protein_name": "Alpha-ketoglutarate-dependent dioxygenase alkB homolog 4", "gene_name": "ALKBH4", "organism": "Human", "refseq_name": "alpha-ketoglutarate-dependent dioxygenase alkB homolog 4", "refseq_ac": [ { "id": "NP_060091", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060091", "type": "external" } ], "gene_names_uniprotkb": "ALKBH4; ABH4", "gene_names_refseq": "ABH4; ALKBH4", "protein_names_uniprotkb": "Alpha-ketoglutarate-dependent dioxygenase alkB homolog 4; 1.14.11.-; 1.14.11.51; Alkylated DNA repair protein alkB homolog 4; DNA N6-methyl adenine demethylase ALKBH4; Lysine-specific demethylase ALKBH4", "protein_names_refseq": "DNA N6-methyl adenine demethylase ALKBH4; alkB homolog 4, lysine demthylase; alkB, alkylation repair homolog 4; alkylated DNA repair protein alkB homolog 4; alpha-ketoglutarate-dependent dioxygenase alkB homolog 4; lysine-specific demethylase ALKBH4; probable alpha-ketoglutarate-dependent dioxygenase ABH4", "tax_id": 9606, "disease": "", "pathway": " (hsa:54784)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "17979886;21166655;22223895;23145062;23186163;23481700;23673617;27920218;28832583;28904123;29242379;29493099;29557506;29632046;29786170;30429286;31092671;31154438;31844290;31848261;32157095;32488085;32938616;33883577;34561969;34951099;35051231;36010968;36284347;37507018;37938771", "class_list": "", "function": "ALKBH4 is a novel enzyme that promotes translation through modified uridine regulation., [RefSeq, PubMed]; ALKBH4 promotes tumourigenesis with a poor prognosis in non-small-cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; ALKBH4 represents an active Fe(II)/2OG-dependent decarboxylase and suggest that the cysteine cluster is involved in processes other than Fe co-ordination., [RefSeq, PubMed]; ALKBH4-dependent actin demethylation regulates actomyosin function by promoting actin-non-muscle myosin II interaction., [RefSeq, PubMed]; Dioxygenase that mediates demethylation of actin monomethylated at 'Lys-84' (K84me1), thereby acting as a regulator of actomyosin-processes (PubMed:23673617). Demethylation of actin K84me1 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration (PubMed:23673617). In addition to proteins, also demethylates DNA: specifically demethylates DNA methylated on the 6th position of adenine (N(6)-methyladenosine) DNA, thereby regulating Polycomb silencing (By similarity)., [UniProtKB, PubMed, UniProtKB]; Quantitative proteomics revealed new functions of ALKBH4., [RefSeq, PubMed]; The regions mediating binding to ALKBH4 comprised domains previously reported to be involved in interaction with DNA or chromatin., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q53H92;Q9H6A4", "ec_number_list": [ { "id": "1.14.11.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.51", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "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": "1.14.11.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.27", "type": "external" }, { "id": "1.14.11.79", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.79", "type": "external" } ], "go_molecular_function": "GO:0003779 actin binding;GO:0046872 metal ion binding;GO:0016706 2-oxoglutarate-dependent dioxygenase activity;GO:0032451 demethylase activity;GO:0035516 broad specificity oxidative DNA demethylase activity", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0030496 midbody;GO:0070938 contractile ring", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0031032 actomyosin structure organization;GO:0036090 cleavage furrow ingression;GO:0070988 demethylation;GO:0141137 positive regulation of gene expression, epigenetic", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9NXW9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19801-1", "uniprot_id": [ { "id": "AOC1_HUMAN", "url": "https://www.uniprot.org/uniprot/P19801", "type": "external" } ], "mass": 85378.0, "length": 751, "protein_name": "Diamine oxidase [copper-containing]", "gene_name": "AOC1", "organism": "Human", "refseq_name": "diamine oxidase [copper-containing] isoform 2 precursor", "refseq_ac": [ { "id": "NP_001082", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001082", "type": "external" } ], "gene_names_uniprotkb": "AOC1; ABP1; ABP; DAO", "gene_names_refseq": "ABP1; ABP; AOC1; DAO1; DAO; KAO; KDAO", "protein_names_uniprotkb": "Diamine oxidase [copper-containing]; 1.4.3.22; Amiloride-binding protein 1; Amiloride-binding protein; Amine oxidase copper domain-containing protein 1; Diamine oxidase; Histaminase; KAO; KDAO; Kidney amine oxidase", "protein_names_refseq": "amiloride binding protein 1 (amine oxidase (copper-containing)); amiloride-binding protein 1; amiloride-sensitive amine oxidase; amine oxidase copper domain-containing protein 1; diamine oxidase [copper-containing] isoform 2 precursor; diamine oxidase; histaminase; kidney amine oxidase", "tax_id": 9606, "disease": "", "pathway": " (hsa:26); (R-HSA-211945); (R-HSA-6798695); (R-HSA-70921)", "pathway_count": 4, "publication_count": 108, "publication_id_list": "10.1038/emboj.2013.79;10445380;10773664;10945627;11154734;11237011;11422004;11566133;12072962;12725862;12732646;12815595;1351198;1425659;15221005;15350128;15492766;15523003;15535985;15806399;16614850;16765324;17400359;18154359;18254726;18256025;18285471;19053771;19304569;19588076;19764817;20007405;20097752;20177059;20422440;20542992;2217167;22700792;22813719;23090970;23584533;23616950;23650620;23953689;239684;24190977;24423752;24677340;24900196;25144769;25418920;25425164;25446851;25502872;25892735;25923589;26001783;26992070;27862975;28228285;28904123;2897122;29164268;29187599;29393594;29557506;29632046;29769354;29789417;30315122;30410026;30459171;31154438;31844290;31848261;32152082;32171872;32187464;32205870;32210741;32350084;32387766;33141586;33298915;33592498;33912179;34185709;34509645;35008409;35088086;35580925;36215666;36284347;37074911;37257820;38956710;39894887;7901203;7943261;7980644;8144586;8182053;8595053;8692836;8985016;9169443;9367528;9653080", "class_list": "", "function": "Catalyzes the oxidative deamination of primary amines to the corresponding aldehydes with the concomitant production of hydrogen peroxide and ammonia (PubMed:12072962, PubMed:19764817, PubMed:239684, PubMed:8144586). Its preferred substrates are the diamines histamine and 1-methylhistamine and it could therefore play a role in allergic and immune responses (PubMed:12072962). Has a broad specificity for diamines and can also act on cadaverine and putrescine, two products of amino acid catabolism (PubMed:12072962). It could also act on polyamines, like spermidine and spermine though less efficiently, and regulate various biological processes (PubMed:12072962, PubMed:239684)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; M6A-enriched lncRNA LINC00839 promotes tumor progression by enhancing TAF15-mediated transcription of amine oxidase AOC1 in nasopharyngeal carcinoma., [RefSeq, PubMed]; METTL14 contributes to the progression of nasopharyngeal carcinoma through regulating the stability of AOC1 mRNA. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [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": 4, "mined_n_glycosites": 4, "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": 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": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 76, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "C9J690;Q16683;Q16684;Q56II4;Q6GU42", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "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": "2.3.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.155", "type": "external" }, { "id": "1.4.3.22", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.22", "type": "external" }, { "id": "1.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.-", "type": "external" }, { "id": "3.4.24.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.34", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "3.2.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.14", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "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": "3.2.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.18", "type": "external" }, { "id": "3.5.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.3", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "3.2.1.166", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.166", "type": "external" } ], "go_molecular_function": "GO:0008201 heparin binding;GO:0042803 protein homodimerization activity;GO:0005509 calcium ion binding;GO:0005507 copper ion binding;GO:0008131 primary methylamine oxidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005777 peroxisome;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0009445 putrescine metabolic process;GO:0009308 amine metabolic process", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "P19801-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100100001001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4X5-1", "uniprot_id": [ { "id": "ARI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4X5", "type": "external" } ], "mass": 64118.0, "length": 557, "protein_name": "E3 ubiquitin-protein ligase ARIH1", "gene_name": "ARIH1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase ARIH1", "refseq_ac": [ { "id": "NP_005735", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005735", "type": "external" } ], "gene_names_uniprotkb": "ARIH1; ARI; HUSSY-27; MOP6; UBCH7BP", "gene_names_refseq": "ARIH1; ARI; HARI; HHARI; UBCH7BP", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase ARIH1; 2.3.2.31; ARI-1; H7-AP2; HHARI; MOP-6; Monocyte protein 6; Protein ariadne-1 homolog; UbcH7-binding protein; UbcM4-interacting protein; Ubiquitin-conjugating enzyme E2-binding protein 1", "protein_names_refseq": "ARI-1; E3 ubiquitin-protein ligase ARIH1; H7-AP2; MOP-6; ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1; ariadne, Drosophila, homolog of; monocyte protein 6; protein ariadne-1 homolog; ubcH7-binding protein; ubcM4-interacting protein; ubiquitin-conjugating enzyme E2-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:25820); (R-HSA-1169408); (R-HSA-9833110); (R-HSA-9833482); (R-HSA-9909505)", "pathway_count": 5, "publication_count": 256, "publication_id_list": "10082513;10348343;10400669;10521492;10620360;10626894;10648614;10848580;10866685;10880484;11095724;11096080;11112487;11124525;11124703;11134010;11152499;11156368;11157743;11237011;11238103;11238927;11278816;11278865;11313968;11337501;11350938;11438540;11500375;11607032;11781817;11788588;11909525;11939789;11985496;12231563;12397061;12525615;12582176;12882984;1373135;14585331;14623119;14976261;15131269;15229216;15236971;15299030;15485925;15702989;15737233;15752359;15907845;16009940;16112642;16122702;16139798;16179258;16179259;16352599;16373505;16407192;16428300;16431927;16600570;16699525;16715065;16717090;16775314;16815975;16872604;16914094;1695551;16982605;17079286;17196820;17289916;17376915;18057259;18096616;18287095;18305167;18420935;18583345;18835251;18957415;19073728;19125153;19229320;19270716;19416861;19608861;19710021;19733181;19804757;19838063;20133869;20219937;20308324;20385878;20395957;20410276;20519500;20685959;21072047;21123651;21294215;21518807;21532592;21590270;21636578;21937648;21978664;21994559;22090124;22214662;2247437;22986343;23059369;23084476;23229543;23301498;23481700;23707686;23732991;24058416;24076655;24347309;24366607;24623135;24659800;24753571;25576301;25624349;25653431;25802875;25848059;25854864;25892735;26101251;26154972;26432638;26446704;26488609;26716879;26768311;26817845;26992070;27208315;27269119;27423063;27565346;27846572;27920218;27974558;28069888;28167698;28218747;28228285;28281686;28510447;28765891;28832583;28834231;28855257;28904123;29170442;29175459;29231267;29242379;29348664;29394925;29395325;29437277;29440070;29501855;29557506;29689197;29769354;30169894;30174290;30224801;30315122;30429286;30587576;30770398;31031002;31434731;31455651;31844290;32093270;32157095;32357974;32488085;32502341;32716602;32801355;32897882;32938616;32983136;33298915;33537174;33592498;33717175;33808629;33879767;33911136;33912179;33936100;33968037;33981976;34171305;34174402;34185709;34357683;34561969;34974812;35051231;35138101;35318648;35580925;35685460;35947956;36010968;36102648;36241641;36284347;36581221;36712380;36793726;37127961;38665916;40914422;7491766;7515177;7545299;7559393;7565688;7693978;7737357;7903669;8576172;8576179;8661426;8810342;8910500;9034343;9079663;9442054;9521856;9525617;9528799;9687506;9737981;9819388;9920933", "class_list": "", "function": "ARIH1 signaling promotes anti-tumor immunity by targeting PD-L1 for proteasomal degradation. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin-protein ligase, which catalyzes ubiquitination of target proteins together with ubiquitin-conjugating enzyme E2 UBE2L3 (PubMed:15236971, PubMed:21532592, PubMed:23707686, PubMed:24076655, PubMed:27565346). Acts as an atypical E3 ubiquitin-protein ligase by working together with cullin-RING ubiquitin ligase (CRL) complexes and initiating ubiquitination of CRL substrates: associates with CRL complexes and specifically mediates addition of the first ubiquitin on CRLs targets (PubMed:27565346). The initial ubiquitin is then elongated by CDC34/UBE2R1 and UBE2R2 (PubMed:27565346). E3 ubiquitin-protein ligase activity is activated upon binding to neddylated cullin-RING ubiquitin ligase complexes (PubMed:24076655, PubMed:27565346). Plays a role in protein translation in response to DNA damage by mediating ubiquitination of EIF4E2, the consequences of EIF4E2 ubiquitination are however unclear (PubMed:25624349). According to a report, EIF4E2 ubiquitination leads to promote EIF4E2 cap-binding and protein translation arrest (PubMed:25624349). According to another report EIF4E2 ubiquitination leads to its subsequent degradation (PubMed:14623119). Acts as the ligase involved in ISGylation of EIF4E2 (PubMed:17289916). In vitro, controls the degradation of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex member SUN2 and may therefore have a role in the formation and localization of the LINC complex, and as a consequence, nuclear subcellular localization and nuclear morphology (PubMed:29689197)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Ubiquitin-associated (UBA) domain-containing DCNL1 is monoubiquitylated when bound to CRLs and that this monoubiquitylation depends on the CRL-associated Ariadne RBR ligases TRIAD1 (ARIH2) and HHARI (ARIH1) and strictly requires the DCNL1's UBA domain., [RefSeq, PubMed]; Variants in ARIH1 are associated with developing aortic aneurysms., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 40, "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": "B2R6U3;O76026;Q9H3T6;Q9UEN0;Q9UP39", "ec_number_list": [ { "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": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "2.7.10.2", "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": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.27", "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": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0031625 ubiquitin protein ligase 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:0016604 nuclear body", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0039585 PKR/eIFalpha signaling", "synthesized_glycan_count": 0, "hit_score": 25.9, "record_id": "Q9Y4X5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HB5-1", "uniprot_id": [ { "id": "CC120_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HB5", "type": "external" } ], "mass": 67567.0, "length": 630, "protein_name": "Coiled-coil domain-containing protein 120", "gene_name": "CCDC120", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 120 isoform 1", "refseq_ac": [ { "id": "NP_001156793", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156793", "type": "external" } ], "gene_names_uniprotkb": "CCDC120; JM11", "gene_names_refseq": "CCDC120; JM11", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 120", "protein_names_refseq": "coiled-coil domain-containing protein 120 isoform 1; coiled-coil domain-containing protein 120", "tax_id": 9606, "disease": "", "pathway": " (hsa:90060)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;17525332;18669648;18691976;19690332;20068231;23186163;25326380;25418920;25576301;28422092;28832583;29242379;29331515;29393594;29557506;31154438;31530632;31844290;31848261;32157095;32161166;32357974;32488085;32983136;33912179;33981976;34171305;34509645;35051231;35318648;35580925;36010968;36215666;36241641;39531497", "class_list": "", "function": "Arf6 guanine nucleotide exchange factor cytohesin-2 binds to CCDC120 and is transported along neurites to mediate neurite growth., [RefSeq, PubMed]; Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells (PubMed:28422092). Together with CCDC68, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly (PubMed:28422092). Recruits NIN and CEP170 to centrosomes (PubMed:28422092). Also required for neurite growth. Localizes CYTH2 to vesicles to allow its transport along neurites, and subsequent ARF6 activation and neurite growth., [UniProtKB, PubMed]; Centrosome-binding proteins, coiled-coil domain containing (CCDC) 120 and CCDC68 are two novel subdistal appendages (SDA) components required for hierarchical SDA assembly in human cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that contains a coiled-coil domain. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Nov 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": 8, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K5Q5;B4DF24;B4DFC1;B4DTU2;F5GZU4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005768 endosome;GO:0030426 growth cone;GO:0005814 centriole;GO:0120103 centriolar subdistal appendage", "go_biological_process": "GO:0008104 intracellular protein localization;GO:0034454 microtubule anchoring at centrosome", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q96HB5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HC52-1", "uniprot_id": [ { "id": "CBX8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HC52", "type": "external" } ], "mass": 43396.0, "length": 389, "protein_name": "Chromobox protein homolog 8", "gene_name": "CBX8", "organism": "Human", "refseq_name": "chromobox protein homolog 8", "refseq_ac": [ { "id": "NP_065700", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065700", "type": "external" } ], "gene_names_uniprotkb": "CBX8; PC3; RC1", "gene_names_refseq": "CBX8; PC3; RC1", "protein_names_uniprotkb": "Chromobox protein homolog 8; Pc3; Polycomb 3 homolog; Rectachrome 1; hPc3", "protein_names_refseq": "Pc class 3 homolog; chromobox homolog 8 (Pc class homolog, Drosophila); chromobox protein homolog 8; polycomb 3; rectachrome 1", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); glioblastoma (Disease Ontology:DOID:3068); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748)", "pathway": " (hsa:57332); (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": 244, "publication_id_list": "10.1101/2023.09.13.557529;10347217;10574707;10722742;10772813;10825164;10871633;11237011;11313972;11378386;11477070;11545734;11564866;11735126;11781575;11792325;11842083;11889051;11959846;11960997;12032081;12134156;12150977;12167701;12189133;12193592;12196509;12421820;12435631;12529333;12679040;12718889;12808055;13130464;14507994;14532106;14578449;14701874;15082759;15161980;15175327;15199155;15287722;15355988;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;17081983;17081986;17210787;17254968;17255097;17298944;17332741;17344414;17369852;17395714;17535915;17693435;17765224;17803295;17825402;17873065;17875933;17942393;17974977;18082607;18172008;18211901;18339323;18365017;18391013;18408014;18487508;18488044;18625722;18628979;18669648;18691969;18691976;18695000;18708356;18762900;18793328;19007248;19240082;19287951;19440552;19450230;19451217;19451218;19462008;19528227;19596686;19615980;19622798;19636380;19651622;19690332;19691289;19706679;19779455;19884659;19956565;19995069;20016594;20016603;20068231;20098713;20176810;20190268;20233713;20351170;20417598;20506188;20516213;20676127;20705237;20797632;20797634;21047797;21098080;21147198;21282530;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;23404503;23481700;23673342;23750026;23871147;24027577;24068740;24275569;24369422;24718924;24782567;25114211;25218447;25391492;25645385;25704882;25728608;25800734;26154972;26910647;26992070;27068747;28218747;28904123;29393594;29493099;31217245;31844290;31998317;32119511;32157095;32161166;32502341;33633747;33968037;34171305;35318648;35713250;35894945;36010968;37733753;38265409;7535770;7588633;7816143;7859739;8001816;8078588;8259215;8319905;8622669;8622688;8626550;8741839;8774846;8846784;8974401;9030721;9162092;9195981;9412458;9452416;9529249;9564042;9628874;9756909;9768359;9824166;9885291", "class_list": "", "function": "CBX8 Promotes Cell Proliferation and Metastasis and Leads to Radiotherapy Tolerance of Glioma Cells., [RefSeq, PubMed]; CBX8 Promotes Epithelial-mesenchymal Transition, Migration, and Invasion of Lung Cancer through Wnt/beta-catenin Signaling Pathway., [RefSeq, PubMed]; CBX8 Together with SET Facilitates Ovarian Carcinoma Growth and Metastasis by Suppressing the Transcription of SUSD2., [RefSeq, PubMed]; CBX8 promotes lung adenocarcinoma growth and metastasis through transcriptional repression of CDKN2C and SCEL., [RefSeq, PubMed]; 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, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q96H39;Q9NR07", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003727 single-stranded RNA binding;GO:0061628 histone H3K27me3 reader activity;GO:0097027 ubiquitin-protein transferase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0000792 heterochromatin;GO:0031519 PcG protein complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0008284 positive regulation of cell population proliferation;GO:0045892 negative regulation of DNA-templated transcription;GO:0032967 positive regulation of collagen biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 24.9, "record_id": "Q9HC52-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92793-1", "uniprot_id": [ { "id": "CBP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92793", "type": "external" } ], "mass": 265351.0, "length": 2442, "protein_name": "CREB-binding protein", "gene_name": "CREBBP", "organism": "Human", "refseq_name": "CREB-binding protein isoform b", "refseq_ac": [ { "id": "NP_001073315", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073315", "type": "external" } ], "gene_names_uniprotkb": "CREBBP; CBP", "gene_names_refseq": "CBP; CREBBP; KAT3A; MKHK1; RSTS1; RSTS", "protein_names_uniprotkb": "CREB-binding protein; 2.3.1.-; 2.3.1.48; Histone lysine acetyltransferase CREBBP; Protein lactyltransferas CREBBP; Protein-lysine acetyltransferase CREBBP", "protein_names_refseq": "CREB-binding protein isoform b; CREB-binding protein; histone lysine acetyltransferase CREBBP; protein lactyltransferas CREBBP; protein-lysine acetyltransferase CREBBP", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); myelodysplastic syndrome (Disease Ontology:DOID:0050908); autism spectrum disorder (Disease Ontology:DOID:0060041); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); Lewy body dementia (Disease Ontology:DOID:12217); Huntington's disease (Disease Ontology:DOID:12858); lung cancer (Disease Ontology:DOID:1324); cognitive disorder (Disease Ontology:DOID:1561); alcohol use disorder (Disease Ontology:DOID:1574); Rubinstein-Taybi syndrome (Disease Ontology:DOID:1933); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); schizophrenia (Disease Ontology:DOID:5419); rheumatoid arthritis (Disease Ontology:DOID:7148); malignant pleural mesothelioma (Disease Ontology:DOID:7474); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); acute myeloid leukemia (Disease Ontology:DOID:9119); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); Menke-Hennekam syndrome 1 (MONDO:MONDO:0020763)", "pathway": " (hsa:1387); (R-HSA-1234158); (R-HSA-1368108); (R-HSA-1912408); (R-HSA-1989781); (R-HSA-201722); (R-HSA-210744); (R-HSA-2122947); (R-HSA-2151201); (R-HSA-2426168); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-3134973); (R-HSA-3214847); (R-HSA-3371568); (R-HSA-350054); (R-HSA-381340); (R-HSA-3899300); (R-HSA-400206); (R-HSA-5617472); (R-HSA-5621575); (R-HSA-6803204); (R-HSA-8866907); (R-HSA-8939246); (R-HSA-8941856); (R-HSA-9013508); (R-HSA-9013695); (R-HSA-9018519); (R-HSA-918233); (R-HSA-933541); (R-HSA-9614657); (R-HSA-9617629); (R-HSA-9705671); (R-HSA-9707564); (R-HSA-9707616); (R-HSA-9759194); (R-HSA-9768919); (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-9841922); (R-HSA-9856649); (R-HSA-9909649); (R-HSA-9931509); (R-HSA-9931510); (R-HSA-9931512); (R-HSA-9931521); (R-HSA-9933387); (R-HSA-9943962); (R-HSA-9976102)", "pathway_count": 57, "publication_count": 1119, "publication_id_list": 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"class_list": "", "function": "AR coactivators, CBP/p300, are critical mediators of DNA repair in prostate cancer., [RefSeq, PubMed]; Acetylates histones, giving a specific tag for transcriptional activation (PubMed:21131905, PubMed:24616510). Mediates acetylation of histone H3 at 'Lys-18' and 'Lys-27' (H3K18ac and H3K27ac, respectively) (PubMed:21131905). Also acetylates non-histone proteins, like DDX21, FBL, IRF2, MAFG, NCOA3, POLR1E/PAF53 and FOXO1 (PubMed:10490106, PubMed:11154691, PubMed:12738767, PubMed:12929931, PubMed:24207024, PubMed:28790157, PubMed:30540930, PubMed:35675826, PubMed:9707565). Binds specifically to phosphorylated CREB and enhances its transcriptional activity toward cAMP-responsive genes. Acts as a coactivator of ALX1. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-BMAL1 and CLOCK-BMAL1 heterodimers (PubMed:14645221). Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902). Acetylates POLR1E/PAF53, leading to decreased association of RNA polymerase I with the rDNA promoter region and coding region (PubMed:24207024). Acetylates DDX21, thereby inhibiting DDX21 helicase activity (PubMed:28790157). Acetylates FBL, preventing methylation of 'Gln-105' of histone H2A (H2AQ104me) (PubMed:30540930). In addition to protein acetyltransferase, can use different acyl-CoA substrates, such as lactoyl-CoA, and is able to mediate protein lactylation (PubMed:38128537). Catalyzes lactylation of MRE11 in response to DNA damage, thereby promoting DNA double-strand breaks (DSBs) via homologous recombination (HR) (PubMed:38128537). Functions as a transcriptional coactivator for SMAD4 in the TGF-beta signaling pathway (PubMed:25514493)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; BCOR::CREBBP fusion in malignant neuroepithelial tumor of CNS expands the spectrum of methylation class CNS tumor with BCOR/BCOR(L1)-fusion. Review article Publication Status: Online-Only, [RefSeq, 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]; This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]., [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": 3, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 32, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 32, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 32, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 32, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 330, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 22, "glyco_site_count": 36, "binding_glycan_count": 0, "secondary_ac_list": "D3DUC9;O00147;Q16376;Q4LE28", "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": "2.3.1.48", "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": "1.14.19.44", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.44", "type": "external" }, { "id": "2.4.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.17", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "1.14.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.1", "type": "external" }, { "id": "4.2.1.152", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.152", "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.-", "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": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "1.3.8.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.7", "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": "2.3.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.37", "type": "external" }, { "id": "1.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.14.14.23", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.23", "type": "external" }, { "id": "1.14.14.26", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.26", "type": "external" }, { "id": "2.3.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.21", "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": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "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": "2.5.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.21", "type": "external" }, { "id": "1.1.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.40", "type": "external" }, { "id": "6.3.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.2", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.4.22.-", "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": "1.1.1.44", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.44", "type": "external" }, { "id": "2.3.3.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.10", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "1.14.14.80", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.80", "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": "2.8.2.14", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.14", "type": "external" }, { "id": "2.8.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.2", "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": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "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": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "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": "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" } ], "go_molecular_function": "GO:0061733 protein-lysine-acetyltransferase activity;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0003684 damaged 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:2000819 regulation of nucleotide-excision repair;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:1900034 regulation of cellular response to heat", "synthesized_glycan_count": 0, "hit_score": 115.5, "record_id": "Q92793-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NX04-1", "uniprot_id": [ { "id": "AIRIM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NX04", "type": "external" } ], "mass": 23373.0, "length": 203, "protein_name": "AFG2-interacting ribosome maturation factor", "gene_name": "AIRIM; C1orf109", "organism": "Human", "refseq_name": "AFG2-interacting ribosome maturation factor isoform 2", "refseq_ac": [ { "id": "NP_001289959", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289959", "type": "external" } ], "gene_names_uniprotkb": "AIRIM; C1orf109; C1orf109", "gene_names_refseq": "AIRIM; C1orf109", "protein_names_uniprotkb": "AFG2-interacting ribosome maturation factor; Ribosome biogenesis protein C1orf109", "protein_names_refseq": "AFG2-interacting ribosome maturation factor isoform 2; ribosome biogenesis protein C1orf109; uncharacterized protein C1orf109", "tax_id": 9606, "disease": "", "pathway": " (hsa:54955)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;18452278;22548824;25418920;25576301;26992070;27862975;28218747;28228285;28832583;28904123;29437277;29632046;29786170;30315122;31092671;31844290;32157095;32161166;32357974;32488085;32938616;33298915;33633747;33717175;33968037;34171305;34185709;34561969;35354024;36010968;36241641;36284347;36988773;37938771;38554706", "class_list": "", "function": "C1orf109 promotes malignant phenotype of liver cancer via wnt signaling pathway in a CK2-dependent manner., [RefSeq, PubMed]; Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5 control a late step in human ribosome assembly., [RefSeq, PubMed]; Our findings suggest that C1ORF109 may be the downstream target of protein kinase CK2 and involved in the regulation of cancer cell proliferation. Publication Status: Online-Only, [RefSeq, PubMed]; Part of the 55LCC heterohexameric ATPase complex which is chromatin-associated and promotes replisome proteostasis to maintain replication fork progression and genome stability. Required for replication fork progression, sister chromatid cohesion, and chromosome stability. The ATPase activity is specifically enhanced by replication fork DNA and is coupled to cysteine protease-dependent cleavage of replisome substrates in response to replication fork damage. Uses ATPase activity to process replisome substrates in S-phase, facilitating their proteolytic turnover from chromatin to ensure DNA replication and mitotic fidelity (PubMed:38554706). Involved in the cytoplasmic maturation steps of pre-60S ribosomal particles by promoting the release of shuttling protein RSL24D1/RLP24 from the pre-ribosomal particles (PubMed:35354024)., [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": 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": "D3DPT1;Q8WVD1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0042273 ribosomal large subunit biogenesis;GO:0006260 DNA replication;GO:0090069 regulation of ribosome biogenesis", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9NX04-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96Q77-1", "uniprot_id": [ { "id": "CIB3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96Q77", "type": "external" } ], "mass": 21802.0, "length": 187, "protein_name": "Calcium and integrin-binding family member 3", "gene_name": "CIB3", "organism": "Human", "refseq_name": "calcium and integrin-binding family member 3 isoform 2", "refseq_ac": [ { "id": "NP_001287851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287851", "type": "external" } ], "gene_names_uniprotkb": "CIB3; KIP3", "gene_names_refseq": "CIB3; KIP3", "protein_names_uniprotkb": "Calcium and integrin-binding family member 3; KIP 3; Kinase-interacting protein 3", "protein_names_refseq": "DNA-dependent protein kinase catalytic subunit-interacting protein 3; calcium and integrin-binding family member 3 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:117286)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;22779914;34089643;35101922", "class_list": "", "function": "Acts a an auxiliary subunit of the sensory mechanoelectrical transduction (MET) channel in hair cells (By similarity). Plays a role in regulating hair cell MET channel localization and function (By similarity)., [UniProtKB, UniProtKB]; Atomic force microscopy reveals distinct protofilament-scale structural dynamics in depolymerizing microtubule arrays., [RefSeq, PubMed]; CIB2 and CIB3 are auxiliary subunits of the mechanotransduction channel of hair cells., [RefSeq, PubMed]; CIB3, as binding partners for the integrin alphaIIb subunit, which suggests that they are potentially involved in regulating integrin alphaIIb subunit activation., [RefSeq, PubMed]; This gene product shares a high degree of sequence similarity with DNA-dependent protein kinase catalytic subunit-interacting protein 2 in human and mouse, and like them may bind the catalytic subunit of DNA-dependent protein kinases. The exact function of this gene is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "E7EUX1;Q2M1W0;Q6ISP1", "ec_number_list": [], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005509 calcium ion binding", "go_cellular_component": "", "go_biological_process": "GO:0055074 calcium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q96Q77-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15466-1", "uniprot_id": [ { "id": "SIA8E_HUMAN", "url": "https://www.uniprot.org/uniprot/O15466", "type": "external" } ], "mass": 43895.0, "length": 376, "protein_name": "Alpha-2,8-sialyltransferase 8E", "gene_name": "ST8SIA5", "organism": "Human", "refseq_name": "alpha-2,8-sialyltransferase 8E isoform 1", "refseq_ac": [ { "id": "NP_001294915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294915", "type": "external" } ], "gene_names_uniprotkb": "ST8SIA5; SIAT8E", "gene_names_refseq": "SIAT8-E; SIAT8E; ST8SIA5; ST8SiaV", "protein_names_uniprotkb": "Alpha-2,8-sialyltransferase 8E; 2.4.99.-; SIAT8-E; ST8SiaV; Sialyltransferase 8E; Sialyltransferase St8Sia V", "protein_names_refseq": "ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 5; alpha-2,8-sialyltransferase 8E isoform 1; alpha-2,8-sialyltransferase 8E; sialyltransferase 8E (alpha-2, 8-polysialytransferase); sialyltransferase St8Sia V", "tax_id": 9606, "disease": "", "pathway": " (hsa:29906); (R-HSA-4085001); (R-HSA-9840309)", "pathway_count": 3, "publication_count": 89, "publication_id_list": "10191093;10206952;10330343;10334995;10405317;10431835;10504389;10536037;10581036;10601645;10742600;10748143;10749855;10861246;10947946;10993897;11018043;11062056;11237011;11279095;11283017;11528398;11602804;11751519;11916006;11956206;12177386;12222957;12235148;12473780;12603328;12668675;12743242;12815231;12888565;14962670;15136692;15213228;15501818;15576474;1601877;16147865;16237198;16934889;17123352;1756715;18632803;19797320;20547865;20930939;21081508;2118655;22692205;22735313;23290777;23746551;23882130;24498430;25576301;29802621;30568303;31154438;3136930;31844290;32967941;33174041;33717175;34982351;38253038;7252518;7559389;7876235;7890749;8333853;8591035;8611500;8631981;8643456;8830034;8910600;8920913;8985184;9010752;9030544;9125199;9199191;9582303;9822625;9826427", "class_list": "glycogene;glycosyltransferase", "function": "Chol-1alpha antigens (cholinergic neuron-specific gangliosides), such as GT1aalpha and GQ1balpha, which are minor species in the brain, are increased in the double-transgenic mouse brain. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, GP1c and GT3 from GD1a, GT1b, GM1b and GD3 respectively., [UniProtKB, PubMed, UniProtKB, UniProtKB]; The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulated lncHRK2:1 prompts nucleus pulposus cell senescence in intervertebral disc degeneration., [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": 0, "reported_glycation": 0, "reported_snv": 529, "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": "B7Z1K9;Q6IAW7", "ec_number_list": [ { "id": "2.4.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.99.-", "type": "external" }, { "id": "2.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.3.-", "type": "external" }, { "id": "2.4.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.3.8", "type": "external" } ], "go_molecular_function": "GO:0003828 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity;GO:0008373 sialyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "GO:0006688 glycosphingolipid biosynthetic process;GO:0005975 carbohydrate metabolic process;GO:0009311 oligosaccharide metabolic process;GO:0006491 N-glycan processing;GO:0006629 lipid metabolic process", "synthesized_glycan_count": 21, "hit_score": 9.2, "record_id": "O15466-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VZ18-1", "uniprot_id": [ { "id": "SHE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VZ18", "type": "external" } ], "mass": 53950.0, "length": 495, "protein_name": "SH2 domain-containing adapter protein E", "gene_name": "SHE", "organism": "Human", "refseq_name": "SH2 domain-containing adapter protein E", "refseq_ac": [ { "id": "NP_001010846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010846", "type": "external" } ], "gene_names_uniprotkb": "SHE", "gene_names_refseq": "SHE", "protein_names_uniprotkb": "SH2 domain-containing adapter protein E", "protein_names_refseq": "SH2 domain-containing adapter protein E", "tax_id": 9606, "disease": "", "pathway": " (hsa:126669)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;29557506;34105348;35051231;37217939;9315092", "class_list": "", "function": "Reports data for mouse She and not human., [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": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8TEQ5", "ec_number_list": [], "go_molecular_function": "GO:0001784 phosphotyrosine residue binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q5VZ18-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJX0-1", "uniprot_id": [ { "id": "OSGI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJX0", "type": "external" } ], "mass": 51992.0, "length": 477, "protein_name": "Oxidative stress-induced growth inhibitor 1", "gene_name": "OSGIN1", "organism": "Human", "refseq_name": "oxidative stress-induced growth inhibitor 1", "refseq_ac": [ { "id": "NP_892026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_892026", "type": "external" } ], "gene_names_uniprotkb": "OSGIN1; BDGI; OKL38", "gene_names_refseq": "BDGI; OKL38; OSGIN1", "protein_names_uniprotkb": "Oxidative stress-induced growth inhibitor 1; 1.14.13.-; BMSC-derived growth inhibitor; Bone marrow stromal cell-derived growth inhibitor; Ovary, kidney and liver protein 38; Pregnancy-induced growth inhibitor OKL38; huOKL38", "protein_names_refseq": "BMSC-derived growth inhibitor; bone marrow stromal cell-derived growth inhibitor; ovary, kidney and liver protein 38; oxidative stress-induced growth inhibitor 1; pregnancy-induced growth inhibitor OKL38", "tax_id": 9606, "disease": "", "pathway": " (hsa:29948)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;11459809;14570898;15569677;16924236;18499678;24275569;25418920;27600516;27893789;29331515;29557506;30429286;30779550;30833945;31154438;31222486;31844290;32047918;32157095;32488085;32938616;33981976;34087483;34171305;35051231;35318648;35580925;36241641;37646890;38442170;39260748", "class_list": "", "function": "Expression in cultured tumor cells resulted in growth inhibition and cell death., [RefSeq, PubMed]; Identify OKL38 as a novel p53 target gene that is regulated by Peptidylarginine deiminase 4 and plays a role in apoptosis, [RefSeq, PubMed]; Monooxygenase catalytic activity (PubMed:38442170). Involved in regulation of cytokinesis; promotes RHOA activity, probably acting locally at the midbody in late cytokinesis (PubMed:38442170). Monooxygenase activity is involved in stabilizing transient structures between daughter cells, termed intercellular bridges, before abscission (PubMed:38442170). Regulates differentiation and proliferation through the regulation of cell death (PubMed:11459809, PubMed:14570898)., [UniProtKB, PubMed, PubMed, PubMed]; OSGIN1 is a novel TUBB3 regulator that promotes tumor progression and gefitinib resistance in non-small cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; OSGIN1 regulates PM2.5-induced fibrosis via mediating autophagy in an in vitro model of COPD., [RefSeq, PubMed]; The 5'UTRs of OKL38 might play an important role in downregulation of its protein and the absence of OKL38 could lead to the development or progression of hepatocellular carcinoma., [RefSeq, PubMed]; This gene encodes an oxidative stress response protein that regulates cell death. Expression of the gene is regulated by p53 and is induced by DNA damage. The protein regulates apoptosis by inducing cytochrome c release from mitochondria. It also appears to be a key regulator of both inflammatory and anti-inflammatory molecules. The loss of this protein correlates with uncontrolled cell growth and tumor formation. Naturally occurring read-through transcription exists between this gene and the neighboring upstream malonyl-CoA decarboxylase (MLYCD) gene, but the read-through transcripts are unlikely to produce a protein product. [provided by RefSeq, Aug 2011]., [RefSeq]; Using purified OSGEPL1, we identified multiple acetylation sites, and OSGEPL1 activity was readily affected by acetylation via multiple mechanisms in vitro and in vivo., [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": 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": "Q52M33;Q86UQ1;Q96S88;Q9BZ70", "ec_number_list": [], "go_molecular_function": "GO:0008083 growth factor activity;GO:0004497 monooxygenase activity", "go_cellular_component": "GO:0030496 midbody", "go_biological_process": "GO:0030154 cell differentiation;GO:0030308 negative regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9UJX0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZX4-1", "uniprot_id": [ { "id": "ROP1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZX4", "type": "external" } ], "mass": 23964.0, "length": 212, "protein_name": "Ropporin-1B", "gene_name": "ROPN1B", "organism": "Human", "refseq_name": "ropporin-1B", "refseq_ac": [ { "id": "NP_001012337", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012337", "type": "external" } ], "gene_names_uniprotkb": "ROPN1B", "gene_names_refseq": "ROPN1B", "protein_names_uniprotkb": "Ropporin-1B; Rhophilin-associated protein 1B", "protein_names_refseq": "AKAP-binding sperm protein ropporin; rhophilin-associated protein 1B; ropporin, rhophilin associated protein 1B; ropporin-1B; testis tissue sperm-binding protein Li 83P", "tax_id": 9606, "disease": "", "pathway": " (hsa:152015)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;11278869;25645385;27600516;32488085", "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, 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": 1, "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": "D3DNA6;Q96BM7", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0030159 signaling receptor complex adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031514 motile cilium", "go_biological_process": "GO:0007283 spermatogenesis;GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization;GO:0030317 flagellated sperm motility;GO:0098609 cell-cell adhesion;GO:0007266 Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q9BZX4-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16444-1", "uniprot_id": [ { "id": "DPEP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P16444", "type": "external" } ], "mass": 45674.0, "length": 411, "protein_name": "Dipeptidase 1", "gene_name": "DPEP1", "organism": "Human", "refseq_name": "dipeptidase 1 isoform a precursor", "refseq_ac": [ { "id": "NP_001121613", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121613", "type": "external" } ], "gene_names_uniprotkb": "DPEP1; MDP; RDP", "gene_names_refseq": "DPEP1; MBD1; MDP; RDP", "protein_names_uniprotkb": "Dipeptidase 1; 3.4.13.19; 3.5.2.6; Beta-lactamase; Dehydropeptidase-I; Microsomal dipeptidase; Renal dipeptidase; hRDP", "protein_names_refseq": "beta-lactamase; dehydropeptidase-I; dipeptidase 1 (renal); dipeptidase 1 isoform a precursor; hRDP; microsomal dipeptidase; renal dipeptidase; testicular tissue protein Li 57", "tax_id": 9606, "disease": "hepatoblastoma (Disease Ontology:DOID:687)", "pathway": " (hsa:1800); (R-HSA-2142691); (R-HSA-5423646); (R-HSA-9664535)", "pathway_count": 4, "publication_count": 99, "publication_id_list": "10.1101/2023.09.13.557529;10064732;10391245;10462554;10779545;10851239;11237011;11409944;11844797;11904223;12144777;12235216;12727802;12933810;1359745;1504254;15340161;15604543;16385575;1643250;16795963;16959974;16970545;18184802;18357469;18416522;1848634;18647347;19159218;19463;19743890;20436887;21209280;2137335;21447318;2168407;2303490;23076889;24190977;25576301;2573352;27046942;2753893;2768222;2836406;28411811;28413640;2864155;2866075;2877850;2882965;29133059;29557506;29741879;2995393;3006030;3020588;30459171;30669;3118366;31442408;3164719;32157095;32265295;32325220;32502341;32938616;33537174;3372534;33981976;35051231;35494241;3563417;35670012;36010968;36284347;37074911;37340703;38626544;3931076;3933675;6122208;6293969;6334084;6490615;7764673;7766804;7937884;8052639;8097406;8394361;8439558;8576264;8703034;8812420;8975785;9278457;9461497;9576847", "class_list": "", "function": "Crystal structure of human renal dipeptidase involved in beta-lactam hydrolysis, [RefSeq, PubMed]; DPEP1 promotes drug resistance in colon cancer cells by forming a positive feedback loop with ASCL2., [RefSeq, PubMed]; Dipeptidase 1 promotes ferroptosis in renal tubular epithelial cells in diabetic nephropathy via inhibition of the GSH/GPX4 axis., [RefSeq, PubMed]; Hydrolyzes a wide range of dipeptides including the conversion of leukotriene D4 to leukotriene E4 (PubMed:2303490, PubMed:31442408, PubMed:32325220, PubMed:6334084). Hydrolyzes cystinyl-bis-glycine (cys-bis-gly) formed during glutathione degradation (PubMed:32325220). Also possesses beta lactamase activity and can hydrolyze the beta-lactam antibiotic imipenem (PubMed:32325220, PubMed:6334084)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Independently of its dipeptidase activity, acts as an adhesion receptor for neutrophil recruitment from bloodstream into inflamed lungs and liver., [UniProtKB, UniProtKB]; The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. [provided by RefSeq, Dec 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": 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": 1, "reported_phosphosites": 1, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 142, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "D3DX80;Q96AK2", "ec_number_list": [ { "id": "3.4.13.19", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.13.19", "type": "external" }, { "id": "3.5.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.2.6", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" } ], "go_molecular_function": "GO:0034235 GPI anchor binding;GO:0008270 zinc ion binding;GO:0070573 metallodipeptidase activity;GO:0008235 metalloexopeptidase activity;GO:0072341 modified amino acid binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0030054 cell junction;GO:0045177 apical part of cell;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006751 glutathione catabolic process;GO:0006508 proteolysis;GO:0006954 inflammatory response;GO:0030336 negative regulation of cell migration;GO:0071277 cellular response to calcium ion", "synthesized_glycan_count": 0, "hit_score": 24.8, "record_id": "P16444-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02671-1", "uniprot_id": [ { "id": "FIBA_HUMAN", "url": "https://www.uniprot.org/uniprot/P02671", "type": "external" } ], "mass": 94973.0, "length": 866, "protein_name": "Fibrinogen alpha chain", "gene_name": "FGA", "organism": "Human", "refseq_name": "fibrinogen alpha chain isoform alpha-E preproprotein", "refseq_ac": [ { "id": "NP_000499", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000499", "type": "external" } ], "gene_names_uniprotkb": "FGA", "gene_names_refseq": "AMYLD2; FGA; Fib2", "protein_names_uniprotkb": "Fibrinogen alpha chain", "protein_names_refseq": "fibrinogen alpha chain isoform alpha-E preproprotein; fibrinogen, A alpha polypeptide", "tax_id": 9606, "disease": "hereditary systemic amyloidosis 2 (Disease Ontology:DOID:0050636); brain small vessel disease (Disease Ontology:DOID:0112313); keratoconus (Disease Ontology:DOID:10126); disseminated intravascular coagulation (Disease Ontology:DOID:11247); thrombocytopenia (Disease Ontology:DOID:1588); congenital afibrinogenemia (Disease Ontology:DOID:2236); brain ischemia (Disease Ontology:DOID:2316); thrombophilia (Disease Ontology:DOID:2452); asthma (Disease Ontology:DOID:2841); acute kidney failure (Disease Ontology:DOID:3021); vascular hemostatic disease (Disease Ontology:DOID:484); pancreatitis (Disease Ontology:DOID:4989); myocardial infarction (Disease Ontology:DOID:5844); Crohn's disease (Disease Ontology:DOID:8778); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary embolism (Disease Ontology:DOID:9477); pulmonary emphysema (Disease Ontology:DOID:9675); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); familial dysfibrinogenemia (MONDO:MONDO:0014452)", "pathway": " (hsa:2243); (R-HSA-114608); (R-HSA-1236974); (R-HSA-166058); (R-HSA-216083); (R-HSA-354192); (R-HSA-354194); (R-HSA-372708); (R-HSA-381426); (R-HSA-5602498); (R-HSA-5603041); (R-HSA-5674135); (R-HSA-5686938); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-8957275); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9769733); (R-HSA-977225); (R-HSA-9936686)", "pathway_count": 23, "publication_count": 521, "publication_id_list": "10.1038/emboj.2013.79;10026136;10074346;10077652;10097139;10209034;10209122;10218588;10319874;10366422;10391209;10391242;10409742;10411933;10438935;10446041;10465784;10512690;10543983;10583407;10593924;10605720;10614670;10640428;10671200;10673366;10681634;10713152;10725339;10777559;10807784;10810289;10811134;10891492;10896934;10898936;10912521;10951195;10956649;10964917;10982388;10990447;11158056;11158588;11250653;11264294;11278841;11316783;11325826;11401442;11418620;11467836;11476890;11509636;11518510;11522292;11544529;11572855;11590439;11606061;11713259;11724772;11739083;11751371;11788658;11802164;11802165;118839;11940607;11960013;11980922;12005431;12068308;12110890;12138165;12140561;12214235;12241545;12297423;12379487;12447441;12447442;12454989;12466191;12473660;12479806;12496264;12501189;12585966;12637671;12640026;12682293;1270801;12724322;12729597;12807887;12810533;12817025;12832465;12904166;1370451;1383255;1435334;14506261;14567678;1457396;14625308;14630798;14636584;14754902;14970219;15035987;15064394;15118098;15126567;15157149;15239952;15240572;15260967;15297306;15308688;15330449;15334074;15345499;15383545;15469690;15469846;15485880;15520807;15525596;15543157;15547943;15585605;1560020;15630448;15642270;15713743;1588291;15899827;15944945;15962837;16002701;16005629;16024789;16040750;16051604;16076873;16115959;16135787;16174740;16213021;16239428;16255019;16335952;1634621;16364920;16439361;16508002;16581250;16702958;16731529;16751103;16754661;16754682;1675636;16757337;16799559;16807684;16834340;16846481;16855214;16878026;16879721;16919435;16933105;17018604;17047378;17141195;17145850;17178906;17218263;1722201;17249697;17312271;17339034;17425515;17485511;17496912;17563371;17603482;17603483;17624957;17726518;17767165;17878161;17878374;17890055;17893200;17968485;17985932;18065497;18070880;18070888;18070982;18083107;18088087;18287029;18354232;1837051;18391064;18434644;18438411;18449172;18484335;1849145;18559343;18559533;18562239;18669862;18692471;18710925;18775695;18829464;18974108;18990700;18991276;19011241;19091303;19112167;19117447;19159218;19217269;19219045;19224918;19242111;19279408;19296670;19467855;19498957;19502598;19506249;19509286;19562805;19592493;19592497;19658395;19696023;19824718;19828817;19933846;20033473;20037584;20052757;20058876;2010551;20130576;20141835;20179705;20473308;20485341;20526349;20676056;2070049;20705068;20807650;20818844;20858867;20966070;2102623;21081667;21107323;2118650;21424530;2143188;21514245;21606490;21639808;21779496;21784453;21871094;2195544;21993244;22043453;22065755;22113612;22131221;22153078;22177953;22292133;22344226;22356324;22395615;22454496;22489132;22510884;22539938;22569528;22589270;22745804;22826437;22836683;22884367;23050552;23090970;23151259;23171796;23288408;23352452;23374253;23446148;23453624;23583981;23584533;23613522;23614898;23640497;23667175;23680146;23719902;23813966;23875798;23934108;2409350;24121058;24135138;24190977;24202393;24275569;24316379;24345920;24348255;24651010;24746704;2476804;2479552;24833601;24833748;24840642;24893886;24937142;24957944;25083866;25195011;25204415;25313996;25427968;25435214;25502872;25523424;25880347;25907612;26018760;26091039;26154972;26214590;26417681;26598643;26668317;26686862;26807092;26992070;27227380;27363989;2742826;27452731;2752151;27726376;27742543;27862975;279930;28228285;2866798;2877981;28832583;28904123;28939558;2900981;29314611;29467321;29493099;29557506;29632711;29741879;29786170;29789417;30034615;30115681;30192525;3035556;30373852;30429286;30459171;3053705;30794926;3080684;30833945;3094007;31154438;3142462;31608988;31611695;31844290;31848261;32157095;32172226;32367765;32373127;3287375;32983136;33091337;33465118;34087483;34171305;34185709;35051231;35580925;36284347;3675579;36828807;36856592;36933991;37074911;37823427;37906135;37938771;38237698;38665916;518845;518846;6318767;632262;6348513;6383194;6457647;6575389;6575700;6688355;6689067;6719396;7107587;7356959;741445;7505120;7513017;7519608;7523391;7525263;7525578;7525634;7525824;7527330;7538844;7541634;7542249;7543116;7559467;7565670;7565795;7588299;7683646;7685013;7685021;7689487;7731720;7929275;7935411;7997267;8033412;8051079;8097946;8113408;8114934;8118028;8157000;8159701;8344274;8461606;8464497;8467233;8473507;8490014;8560266;8576216;8621540;8631894;8649368;8675656;8755247;8781553;8798654;8817670;8837778;8838667;8870004;8894645;8910476;8964575;9006323;9008162;9020159;9054935;9251239;9333233;9351824;936108;9430229;9443892;9497324;9565552;9566877;9603949;9628725;9689040;9709957;9733512;9733769;9786878;9858236;9858547;9862427;9922210", "class_list": "", "function": "Cleaved by the protease thrombin to yield monomers which, together with fibrinogen beta (FGB) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However, subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets via an ITGB3-dependent pathway. Maternal fibrinogen is essential for successful pregnancy. Fibrin deposition is also associated with infection, where it protects against IFNG-mediated hemorrhage. May also facilitate the immune response via both innate and T-cell mediated pathways., [UniProtKB, UniProtKB]; Fibrinogen Aalpha gene genotyping in patients with inherited afibrinogenemia deficiency; a novel mutation in Iranian afibrinogenemia patients., [RefSeq, PubMed]; Fibrinogen-Aalpha THR312ALA Polymorphism is Associated to Chronic Thromboembolic Pulmonary Hypertension in Turkey., [RefSeq, PubMed]; Interaction Between Platelet and Fibrinogen on Clot Strength in Healthy Patients., [RefSeq, PubMed]; Regulation of the fibrinogen genes from proximal promoters and enhancers, the influence of acute-phase stimulation, post-transcriptional regulation by miRNAs and functional regulatory variants identified in genetic studies. Review. Review article, [RefSeq, PubMed]; This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016]., [RefSeq]; [Genetic analysis of a Chinese pedigree affected with Congenital dysfibrinogenemia due to variant of FGG 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": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "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": 6, "reported_phosphosites": 24, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 71, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic; ", "glycan_count": 20, "disease_count": 19, "glyco_site_count": 37, "binding_glycan_count": 0, "secondary_ac_list": "A8K3E4;D3DP14;D3DP15;Q4QQH7;Q9BX62;Q9UCH2", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0030674 protein-macromolecule adaptor activity;GO:0046872 metal ion binding;GO:0005198 structural molecule activity;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane", "go_biological_process": "GO:0045087 innate immune response;GO:0051592 response to calcium ion;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0007160 cell-matrix adhesion;GO:0050714 positive regulation of protein secretion", "synthesized_glycan_count": 0, "hit_score": 58.1, "record_id": "P02671-1", "record_type": "protein", "filter_code": "0001000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TC71-1", "uniprot_id": [ { "id": "MIEAP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TC71", "type": "external" } ], "mass": 61109.0, "length": 538, "protein_name": "Mitochondria-eating protein", "gene_name": "SPATA18", "organism": "Human", "refseq_name": "mitochondria-eating protein isoform 2", "refseq_ac": [ { "id": "NP_001284537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284537", "type": "external" } ], "gene_names_uniprotkb": "SPATA18; MIEAP", "gene_names_refseq": "Mieap; SPATA18; SPETEX1", "protein_names_uniprotkb": "Mitochondria-eating protein; Spermatogenesis-associated protein 18", "protein_names_refseq": "mitochondria-eating protein isoform 2; mitochondria-eating protein; spermatogenesis associated 18 homolog; testis tissue sperm-binding protein Li 71n", "tax_id": 9606, "disease": "", "pathway": " (hsa:132671)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;16088906;17924679;21264221;21264228;21300779;22292033;22532927;34171305;35051231;35269894;36215666;36751118;37217939;38322995;39894887", "class_list": "", "function": "Beta-sarcoglycan and SPATA18 may have a role in limb-girdle muscular dystrophy type 2E, [RefSeq, PubMed]; High SPATA18 Expression and its Diagnostic and Prognostic Value in Clear Cell Renal Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Key regulator of mitochondrial quality that mediates the repairing or degradation of unhealthy mitochondria in response to mitochondrial damage (PubMed:21264221, PubMed:21264228, PubMed:22292033, PubMed:22532927). Mediator of mitochondrial protein catabolic process (also named MALM) by mediating the degradation of damaged proteins inside mitochondria by promoting the accumulation in the mitochondrial matrix of hydrolases that are characteristic of the lysosomal lumen (PubMed:21264221, PubMed:21264228, PubMed:22292033, PubMed:22532927). Also involved in mitochondrion degradation of damaged mitochondria by promoting the formation of vacuole-like structures (named MIV), which engulf and degrade unhealthy mitochondria by accumulating lysosomes (PubMed:21264228). 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 (PubMed:22292033). Binds cardiolipin (PubMed:38322995). May form molecular condensates (non-membrane-bounded organelles) within mitochondria that compartmentalize and promote cardiolipin metabolism (PubMed:38322995)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Mieap induces intramitochondrial lysosome-like organella that plays a critical role in mitochondrial quality control by eliminating oxidized mitochondrial proteins Publication Status: Online-Only, [RefSeq, PubMed]; SPATA18 Expression Predicts Favorable Clinical Outcome in Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Show that SPATA18 transcription is induced by p53 in a variety of cell types of both human and mouse origin, [RefSeq, PubMed]; The physical interaction of Mieap, BNIP3 and NIX at the mitochondrial outer membrane may play a critical role in the translocation of lysosomal proteins from the cytoplasm to the mitochondrial matrix., [RefSeq, PubMed]; This gene encodes a p53-inducible protein that is able to induce lysosome-like organelles within mitochondria that eliminate oxidized mitochondrial proteins, thereby contributing to mitochondrial quality control. Dysregulation of mitochondrial quality control is associated with cancer and degenerative diseases. The encoded protein mediates accumulation of the lysosome-like mitochondrial organelles through interaction with B cell lymphoma 2 interacting protein 3 and B cell lymphoma 2 interacting protein 3 like at the outer mitochondrial membrane, which allows translocation of lysosomal proteins to the mitochondrial matrix from the cytosol. 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": 7, "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": "B4E2R0;E5RLK1;Q8IY48;Q8N7D7", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:1901612 cardiolipin binding;GO:0140693 molecular condensate scaffold activity;GO:0008289 lipid binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:1900210 positive regulation of cardiolipin metabolic process;GO:0035694 mitochondrial protein catabolic process;GO:0035695 mitophagy by internal vacuole formation", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8TC71-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15596-1", "uniprot_id": [ { "id": "NCOA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15596", "type": "external" } ], "mass": 159157.0, "length": 1464, "protein_name": "Nuclear receptor coactivator 2", "gene_name": "NCOA2", "organism": "Human", "refseq_name": "nuclear receptor coactivator 2 isoform a", "refseq_ac": [ { "id": "NP_001308632", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308632", "type": "external" } ], "gene_names_uniprotkb": "NCOA2; BHLHE75; SRC2; TIF2", "gene_names_refseq": "GRIP1; KAT13C; NCOA2; NCoA-2; SRC-2; SRC2; TIF2; bHLHe75", "protein_names_uniprotkb": "Nuclear receptor coactivator 2; Class E basic helix-loop-helix protein 75; NCoA-2; Transcriptional intermediary factor 2; bHLHe75; hTIF2", "protein_names_refseq": "class E basic helix-loop-helix protein 75; glucocorticoid receptor-interacting protein-1; nuclear receptor coactivator 2 isoform a; p160 steroid receptor coactivator 2; transcriptional intermediary factor 2", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); colorectal carcinoma (Disease Ontology:DOID:0080199); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); polycystic ovary syndrome (Disease Ontology:DOID:11612); prostate adenocarcinoma (Disease Ontology:DOID:2526); lung non-small cell carcinoma (Disease Ontology:DOID:3908); malignant pleural mesothelioma (Disease Ontology:DOID:7474); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:10499); (R-HSA-1368108); (R-HSA-159418); (R-HSA-192105); (R-HSA-193368); (R-HSA-193807); (R-HSA-1989781); (R-HSA-211976); (R-HSA-2151201); (R-HSA-2426168); (R-HSA-3214847); (R-HSA-381340); (R-HSA-3899300); (R-HSA-400206); (R-HSA-5625886); (R-HSA-9018519); (R-HSA-9707564); (R-HSA-9707616); (R-HSA-9841922); (R-HSA-9931509); (R-HSA-9933387)", "pathway_count": 21, "publication_count": 565, "publication_id_list": 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"class_list": "", "function": "ETV6-NCOA2 fusion may define a novel subgroup of acute leukemia with T-lymphoid and myeloid features, which is associated with a high prevalence of NOTCH1 mutations., [RefSeq, PubMed]; Myxoid epithelioid smooth muscle tumor of the vulva: A distinct entity with MEF2D::NCOA2 gene fusion., [RefSeq, PubMed]; The novel HEY1-NCOA2 fusion appears to be the defining and diagnostic gene fusion in mesenchymal chondrosarcomas, [RefSeq, PubMed]; The protein encoded by this gene functions as a transcriptional coactivator for nuclear hormone receptors, including steroid, thyroid, retinoid, and vitamin D receptors. The encoded protein acts as an intermediary factor for the ligand-dependent activity of these nuclear receptors, which regulate their target genes upon binding of cognate response elements. This gene has been found to be involved in translocations that result in fusions with other genes in various cancers, including the lysine acetyltransferase 6A (KAT6A) gene in acute myeloid leukemia, the ETS variant 6 (ETV6) gene in acute lymphoblastic leukemia, and the hes related family bHLH transcription factor with YRPW motif 1 (HEY1) gene in mesenchymal chondrosarcoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]., [RefSeq]; Transcriptional coactivator for steroid receptors and nuclear receptors (PubMed:23508108, PubMed:8670870, PubMed:9430642, PubMed:22504882, PubMed:26553876). Coactivator of the steroid binding domain (AF-2) but not of the modulating N-terminal domain (AF-1) (PubMed:23508108, PubMed:8670870, PubMed:9430642). Required with NCOA1 to control energy balance between white and brown adipose tissues (PubMed:23508108, PubMed:8670870, PubMed:9430642). Critical regulator of glucose metabolism regulation, acts as a RORA coactivator to specifically modulate G6PC1 expression (PubMed:23508108, PubMed:8670870, PubMed:9430642). Involved in the positive regulation of the transcriptional activity of the glucocorticoid receptor NR3C1 by sumoylation enhancer RWDD3 (PubMed:23508108). Positively regulates the circadian clock by acting as a transcriptional coactivator for the CLOCK-BMAL1 heterodimer (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Transcriptional coactivator for steroid receptors and nuclear receptors. Coactivator of the steroid binding domain (AF-2) but not of the modulating N-terminal domain (AF-1). Required with NCOA1 to control energy balance between white and brown adipose tissues. Critical regulator of glucose metabolism regulation, acts as a RORA coactivator to specifically modulate G6PC1 expression. Involved in the positive regulation of the transcriptional activity of the glucocorticoid receptor NR3C1 by sumoylation enhancer RWDD3. Positively regulates the circadian clock by acting as a transcriptional coactivator for the CLOCK-BMAL1 heterodimer., [UniProtKB, UniProtKB]; VGLL2-NCOA2 leverages developmental programs for pediatric sarcomagenesis., [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": 30, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 9, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q14CD2", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0019904 protein domain specific binding;GO:0046983 protein dimerization activity;GO:0017162 aryl hydrocarbon receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016604 nuclear body;GO:0000785 chromatin", "go_biological_process": "GO:1904179 positive regulation of adipose tissue development;GO:1900076 regulation of cellular response to insulin stimulus;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0010906 regulation of glucose metabolic process", "synthesized_glycan_count": 0, "hit_score": 57.3, "record_id": "Q15596-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75170-1", "uniprot_id": [ { "id": "PP6R2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75170", "type": "external" } ], "mass": 104942.0, "length": 966, "protein_name": "Serine/threonine-protein phosphatase 6 regulatory subunit 2", "gene_name": "PPP6R2", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform 1", "refseq_ac": [ { "id": "NP_001229827", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229827", "type": "external" } ], "gene_names_uniprotkb": "PPP6R2; KIAA0685; PP6R2; SAPS2", "gene_names_refseq": "KIAA0685; PP6R2; PPP6R2; SAP190; SAPS2", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 6 regulatory subunit 2; SAPS domain family member 2", "protein_names_refseq": "SAPS domain family, member 2; serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform 1; serine/threonine-protein phosphatase 6 regulatory subunit 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9701)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "11237011;16769727;18186651;18477386;18669648;18691976;19690332;23186163;24275569;26992070;28657654;28904123;29351928;29393594;29557506;29632711;29930882;30315122;30429286;30620550;31844290;32157095;32350084;32357974;32387766;32897882;32938616;32938750;32983136;33214551;33392160;33936100;33968037;34019948;34087483;34211107;34509645;35051231;35132862;35138101;35254053;36241641;37541260;38665916;39302247;39531497;40307207", "class_list": "", "function": "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]; The protein encoded by this gene is a regulatory protein for the protein phosphatase-6 catalytic subunit. Together, these proteins act as a significant T-loop phosphatase for Aurora A, an essential mitotic kinase. Loss of function of either the regulatory or catalytic subunit of protein phosphatase-6 interferes with spindle formation and chromosome alignment. [provided by RefSeq, May 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": 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A6PVG3;B7Z7T3;Q5U5P3;Q7Z2L2;Q7Z5G5;Q7Z731;Q9UGB9", "ec_number_list": [], "go_molecular_function": "GO:0019888 protein phosphatase regulator activity;GO:0019903 protein phosphatase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "O75170-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WV28-1", "uniprot_id": [ { "id": "BLNK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WV28", "type": "external" } ], "mass": 50466.0, "length": 456, "protein_name": "B-cell linker protein", "gene_name": "BLNK", "organism": "Human", "refseq_name": "B-cell linker protein isoform 2", "refseq_ac": [ { "id": "NP_001107566", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107566", "type": "external" } ], "gene_names_uniprotkb": "BLNK; BASH; SLP65", "gene_names_refseq": "AGM4; BASH; BLNK-S; BLNK; LY57; SLP-65; SLP65; bca", "protein_names_uniprotkb": "B-cell linker protein; B-cell adapter containing a SH2 domain protein; B-cell adapter containing a Src homology 2 domain protein; Cytoplasmic adapter protein; SLP-65; Src homology 2 domain-containing leukocyte protein of 65 kDa", "protein_names_refseq": "B cell adaptor containing SH2 domain; B-cell activation; B-cell adapter containing a SH2 domain protein; B-cell adapter containing a Src homology 2 domain protein; B-cell linker protein isoform 2; B-cell linker protein; Src homology 2 domain-containing leukocyte protein of 65 kDa; Src homology [SH2] domain-containing leukocyte protein of 65 kD; cytoplasmic adapter protein", "tax_id": 9606, "disease": "agammaglobulinemia 4 (Disease Ontology:DOID:0060027); agammaglobulinemia (Disease Ontology:DOID:2583)", "pathway": " (hsa:29760); (R-HSA-912631); (R-HSA-9679191); (R-HSA-983695)", "pathway_count": 4, "publication_count": 179, "publication_id_list": "10051622;10087012;10432293;10498607;10556826;10583958;10648173;10706702;10770799;1081164;10880360;10983984;11042164;11071869;11226282;11237011;11449366;11606584;11901194;11909947;12181444;12453414;12456653;12573241;12881521;1372019;1374290;1375264;1376928;15161916;15187135;15270728;1550550;15509800;1599430;16115318;16522641;16636677;16849466;16906149;16912232;16969585;1702903;1705565;17202354;17224452;17452328;17486119;17662961;18006696;18025150;18052078;18187424;18326500;18369315;18374639;18420269;18596693;18818202;18843204;18995841;19206206;19249086;19372136;19620627;2011584;20192804;20223979;21408196;21469132;21822214;21930792;22180443;22210847;22334673;22401777;22552008;22814904;2303036;2304550;23481700;23641311;24272870;24584101;24714562;24715725;25418920;25469497;25502872;25576301;25801024;26002965;26154972;26375851;26728094;26758079;26992070;27381982;27397612;27846572;27920218;28063628;28218747;28228285;28425720;28832583;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29632711;29786170;29945920;30201761;30315122;30410026;30429286;31048504;31217245;31844290;31848261;31998317;32157095;32194234;32265295;32350084;32357974;32502341;32897882;33141586;33298915;33416167;33633747;33912179;33936100;34078123;34211107;34433824;34521030;34561969;34653294;34932366;3500860;35051231;35933456;36581221;39894887;4589993;6335036;7524079;7528218;7537740;7538118;7592958;7687428;7687539;7688784;7691807;7927516;803528;8163536;8306975;8626543;8649859;8947047;8995358;9200440;9235916;9259313;9326643;9341187;9382888;9525940;9590251;9697839;9705962", "class_list": "", "function": "C/EBPbeta induces B-cell acute lymphoblastic leukemia and cooperates with BLNK mutations., [RefSeq, PubMed]; ErbB2/Her2-dependent downregulation of a cell death-promoting protein BLNK in breast cancer cells is required for 3D breast tumor growth. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a central linker protein, downstream of the B-cell receptor (BCR), bridging the SYK kinase to a multitude of signaling pathways and regulating biological outcomes of B-cell function and development. Plays a role in the activation of ERK/EPHB2, MAP kinase p38 and JNK. Modulates AP1 activation. Important for the activation of NF-kappa-B and NFAT. Plays an important role in BCR-mediated PLCG1 and PLCG2 activation and Ca(2+) mobilization and is required for trafficking of the BCR to late endosomes. However, does not seem to be required for pre-BCR-mediated activation of MAP kinase and phosphatidyl-inositol 3 (PI3) kinase signaling. May be required for the RAC1-JNK pathway. Plays a critical role in orchestrating the pro-B cell to pre-B cell transition. May play an important role in BCR-induced B-cell apoptosis., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Further delineation of primary B cell immunodeficiency caused by novel variants of the BLNK gene in two Chinese patients., [RefSeq, PubMed]; Involvement of Blnk and Foxo1 in tumor suppression in BCRABL1transformed proB cells., [RefSeq, PubMed]; Silencing BLNK protects against interleukin-1beta-induced chondrocyte injury through the NF-kappaB signaling pathway., [RefSeq, PubMed]; This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 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": 11, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 15, "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": "O75498;O75499;Q2MD49", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding;GO:0019901 protein kinase binding;GO:0008289 lipid binding;GO:0042169 SH2 domain binding;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0010628 positive regulation of gene expression;GO:0035556 intracellular signal transduction;GO:0050853 B cell receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 18.2, "record_id": "Q8WV28-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75351-1", "uniprot_id": [ { "id": "VPS4B_HUMAN", "url": "https://www.uniprot.org/uniprot/O75351", "type": "external" } ], "mass": 49302.0, "length": 444, "protein_name": "Vacuolar protein sorting-associated protein 4B", "gene_name": "VPS4B", "organism": "Human", "refseq_name": "vacuolar protein sorting-associated protein 4B", "refseq_ac": [ { "id": "NP_004860", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004860", "type": "external" } ], "gene_names_uniprotkb": "VPS4B; MIG1; SKD1; VPS42", "gene_names_refseq": "DTDP1B; MIG1; SKD1B; SKD1; VPS4-2; VPS4B", "protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 4B; 3.6.4.6; Cell migration-inducing gene 1 protein; Protein SKD1; Suppressor of K(+) transport growth defect 1", "protein_names_refseq": "cell migration-inducing 1; cell migration-inducing gene 1 protein; suppressor of K(+) transport growth defect 1; suppressor of K+ transport defect 1; vacuolar protein sorting 4B; vacuolar protein sorting-associated protein 4B", "tax_id": 9606, "disease": "dentin dysplasia type IB (Disease Ontology:DOID:0070705); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094)", "pathway": " (hsa:9525); (R-HSA-162588); (R-HSA-917729)", "pathway_count": 3, "publication_count": 107, "publication_id_list": "11237011;11559748;11563910;12594041;14505570;14624836;15075231;15218037;15473846;16018968;16193069;16371348;16973552;17081983;17525332;17928862;18088087;18318008;18385515;18606141;18669648;18687924;19129479;19413330;19527882;19608861;19651622;20068231;20166139;21406692;21757351;22252323;22660413;22762019;23186163;23266279;23305486;24275569;25502872;25576301;25645385;26992070;27247351;27600516;27846572;27862975;28218747;28467828;28510447;28514659;28649982;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29493099;29557506;29632711;29769354;29786170;30315122;30377343;30410026;30429286;30573663;30833945;31154438;31217245;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32737282;32897882;32938616;32983136;33326793;33537174;33592498;33717175;33912179;33936100;33968037;34185709;34357683;34509645;35051231;35154160;35251023;35561310;35580925;36010968;36042696;36241641;36284347;37154262;37938771;40410860;40914422;9653160", "class_list": "", "function": "(Microbial infection) In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses)., [UniProtKB, PubMed, PubMed, PubMed]; Analysis of individual HIV-1 budding event using fast AFM reveals a multiplexed role for VPS4., [RefSeq, PubMed]; Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their ATP-dependent disassembly, possibly in combination with membrane fission (PubMed:18687924). Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. VPS4A/B are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413)., [UniProtKB, PubMed, PubMed, PubMed]; P-AKT/VPS4B regulates the small extracellular vesicle size in venous malformation endothelial cells., [RefSeq, PubMed]; Synthetic Lethal Interaction between the ESCRT Paralog Enzymes VPS4A and VPS4B in Cancers Harboring Loss of Chromosome 18q or 16q. Erratum:[Cell Rep. 2021 Jul 13;36(2):109367. doi: 10.1016/j.celrep.2021.109367. PMID: 34260938], [RefSeq, PubMed]; The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. Mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be a yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 18; the gene for the other resides on chromosome 16. [provided by RefSeq, Jul 2008]., [RefSeq]; VPS4B mutation impairs the osteogenic differentiation of dental follicle cells derived from a patient with dentin dysplasia type I. 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": 8, "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": "Q69HW4;Q9GZS7", "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": "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": "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": "2.7.11.1", "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": "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": "3.4.24.-", "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:0005524 ATP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0016887 ATP hydrolysis activity;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005813 centrosome", "go_biological_process": "GO:0001778 plasma membrane repair;GO:0010824 regulation of centrosome duplication;GO:0031468 nuclear membrane reassembly;GO:0036258 multivesicular body assembly;GO:0039702 viral budding via host ESCRT complex", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "O75351-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95219-1", "uniprot_id": [ { "id": "SNX4_HUMAN", "url": "https://www.uniprot.org/uniprot/O95219", "type": "external" } ], "mass": 51909.0, "length": 450, "protein_name": "Sorting nexin-4", "gene_name": "SNX4", "organism": "Human", "refseq_name": "sorting nexin-4", "refseq_ac": [ { "id": "NP_003785", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003785", "type": "external" } ], "gene_names_uniprotkb": "SNX4", "gene_names_refseq": "ATG24B; SNX4", "protein_names_uniprotkb": "Sorting nexin-4", "protein_names_refseq": "sorting nexin-4", "tax_id": 9606, "disease": "", "pathway": " (hsa:8723)", "pathway_count": 1, "publication_count": 94, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12668730;14978097;17994011;18669648;18991276;20068231;20112406;21993680;22424782;23186163;23481700;24714562;24715725;25418920;25576301;25645385;25802875;25880248;25892735;26154972;26375851;26728094;26758079;26811146;26929215;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30524438;31154438;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32513819;32897882;32938616;32983136;33141586;33298915;33392160;33468622;33537174;33592498;33691108;33717175;33836029;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36284347;37938771;9819414", "class_list": "", "function": "Involved in the regulation of endocytosis and in several stages of intracellular trafficking (PubMed:12668730, PubMed:17994011, PubMed:32513819, PubMed:33468622). Plays a role in recycling endocytosed transferrin receptor and prevent its degradation (PubMed:17994011). Involved in autophagosome assembly by regulating trafficking and recycling of phospholipid scramblase ATG9A (PubMed:32513819, PubMed:33468622)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Sorting nexin 4 and amphiphysin 2 have roles in endocytosis and intracellular trafficking, [RefSeq, PubMed]; The phosphatidylinositol 3-phosphate-binding protein SNX4 controls ATG9A recycling and autophagy. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associated with the long isoform of the leptin receptor and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor in cell cultures, but its function is unknown. This protein may form oligomeric complexes with family members. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 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": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 9803, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KMH0;B4DQV4;D3DNA3", "ec_number_list": [], "go_molecular_function": "GO:0005158 insulin receptor binding;GO:0005154 epidermal growth factor receptor binding;GO:0032266 phosphatidylinositol-3-phosphate binding;GO:0035091 phosphatidylinositol binding;GO:1990460 leptin receptor binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:0015031 protein transport;GO:0032456 endocytic recycling;GO:1903595 positive regulation of histamine secretion by mast cell;GO:2000786 positive regulation of autophagosome assembly", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "O95219-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04180-1", "uniprot_id": [ { "id": "LCAT_HUMAN", "url": "https://www.uniprot.org/uniprot/P04180", "type": "external" } ], "mass": 49578.0, "length": 440, "protein_name": "Phosphatidylcholine-sterol acyltransferase", "gene_name": "LCAT", "organism": "Human", "refseq_name": "phosphatidylcholine-sterol acyltransferase precursor", "refseq_ac": [ { "id": "NP_000220", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000220", "type": "external" } ], "gene_names_uniprotkb": "LCAT", "gene_names_refseq": "LCAT", "protein_names_uniprotkb": "Phosphatidylcholine-sterol acyltransferase; 1-alkyl-2-acetylglycerophosphocholine esterase; 2.3.1.43; 3.1.1.47; Lecithin-cholesterol acyltransferase; PAF acetylhydrolase; Phospholipid-cholesterol acyltransferase; Platelet-activating factor acetylhydrolase", "protein_names_refseq": "1-alkyl-2-acetylglycerophosphocholine esterase; PAF acetylhydrolase; phosphatidylcholine--sterol O-acyltransferase; phosphatidylcholine-sterol acyltransferase precursor; phosphatidylcholine-sterol acyltransferase; phospholipid-cholesterol acyltransferase; platelet-activating factor acetylhydrolase; testicular secretory protein Li 24", "tax_id": 9606, "disease": "familial hyperlipidemia (Disease Ontology:DOID:1168); Norum disease (Disease Ontology:DOID:1391); arteriosclerosis (Disease Ontology:DOID:2349); myocardial infarction (Disease Ontology:DOID:5844); end stage renal disease (Disease Ontology:DOID:783); fish eye disease (MONDO:MONDO:0007620)", "pathway": " (hsa:3931); (R-HSA-8964058)", "pathway_count": 2, "publication_count": 81, "publication_id_list": "10.1021/acs.analchem.6b02887;10222237;10329423;10722751;11237011;11423760;12354767;12957688;12966036;14559902;14636062;1516702;1571050;15994327;15994445;16051254;16216249;16326978;16335952;1681161;16874701;16968945;17237796;1737840;17950106;1859405;19065001;19567873;21081667;21901787;23090970;2370048;24190977;24620755;25727495;26195816;27726376;28035807;2823801;2823898;2833496;2880847;29391424;29557506;31848261;32387766;33043033;33592498;34256778;34357683;3458198;34634315;35051231;35580925;35598637;36284347;36420900;37074911;3797244;39154733;39894887;4335615;4340992;4360812;5865378;6619141;7607641;7613477;7711728;8016111;8318557;8432868;8445342;8620346;8807342;8820107;9007616;9261271;9555945;9741700;9829992", "class_list": "", "function": "Altered HDL proteome predicts incident CVD in chronic kidney disease patients., [RefSeq, PubMed]; Central enzyme in the extracellular metabolism of plasma lipoproteins. Synthesized mainly in the liver and secreted into plasma where it converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters and lysophosphatidylcholines on the surface of high and low density lipoproteins (HDLs and LDLs) (PubMed:10329423, PubMed:19065001, PubMed:26195816). The cholesterol ester is then transported back to the liver. Has a preference for plasma 16:0-18:2 or 18:O-18:2 phosphatidylcholines (PubMed:8820107). Also produced in the brain by primary astrocytes, and esterifies free cholesterol on nascent APOE-containing lipoproteins secreted from glia and influences cerebral spinal fluid (CSF) APOE- and APOA1 levels. Together with APOE and the cholesterol transporter ABCA1, plays a key role in the maturation of glial-derived, nascent lipoproteins. Required for remodeling high-density lipoprotein particles into their spherical forms (PubMed:10722751). Catalyzes the hydrolysis of 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine (platelet-activating factor or PAF) to 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF) (PubMed:8016111). Also catalyzes the transfer of the acetate group from PAF to 1-hexadecanoyl-sn-glycero-3-phosphocholine forming lyso-PAF (PubMed:8016111). Catalyzes the esterification of (24S)-hydroxycholesterol (24(S)OH-C), also known as cerebrosterol to produce 24(S)OH-C monoesters (PubMed:24620755)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred. Publication Status: Online-Only, [RefSeq, PubMed]; Low LCAT activity is linked to acute decompensated heart failure and mortality in patients with CKD., [RefSeq, PubMed]; Plasma FA composition in familial LCAT deficiency indicates SOAT2-derived cholesteryl ester formation in humans., [RefSeq, PubMed]; Rapidly progressive renal failure to reveal LCAT deficiency in an Algerian family., [RefSeq, PubMed]; This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [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": 4, "reported_o_glycosites": 2, "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": 5, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 9, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 29, "disease_count": 6, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q53XQ3", "ec_number_list": [ { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.1.4", "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": "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": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.1", "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" } ], "go_molecular_function": "GO:0004771 sterol ester esterase activity;GO:0047179 platelet-activating factor acetyltransferase activity;GO:0004623 phospholipase A2 activity;GO:0034186 apolipoprotein A-I binding;GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0034364 high-density lipoprotein particle;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0008203 cholesterol metabolic process;GO:0042157 lipoprotein metabolic process;GO:0051384 response to glucocorticoid;GO:0006656 phosphatidylcholine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "P04180-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96FQ7-1", "uniprot_id": [ { "id": "CR018_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96FQ7", "type": "external" } ], "mass": 10201.0, "length": 95, "protein_name": "Putative uncharacterized protein encoded by LINC00526", "gene_name": "LINC00526", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00526; C18orf18", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00526", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "35580925", "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": "A8K9M8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q96FQ7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0L4-1", "uniprot_id": [ { "id": "CSTFT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0L4", "type": "external" } ], "mass": 64437.0, "length": 616, "protein_name": "Cleavage stimulation factor subunit 2 tau variant", "gene_name": "CSTF2T", "organism": "Human", "refseq_name": "cleavage stimulation factor subunit 2 tau variant", "refseq_ac": [ { "id": "NP_056050", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056050", "type": "external" } ], "gene_names_uniprotkb": "CSTF2T; KIAA0689", "gene_names_refseq": "CSTF2T; CstF-64T", "protein_names_uniprotkb": "Cleavage stimulation factor subunit 2 tau variant; CF-1 64 kDa subunit tau variant; CSTF 64 kDa subunit tau variant; Cleavage stimulation factor 64 kDa subunit tau variant; TauCstF-64", "protein_names_refseq": "CF-1 64 kDa subunit tau; CSTF 64 kDa subunit tau; cleavage stimulation factor 64 kDa subunit tau; cleavage stimulation factor subunit 2 tau variant; cleavage stimulation factor subunit 2, tau; cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau; cleavage stimulation factor, 3' pre-RNA, subunit 2, tau; tauCstF-64", "tax_id": 9606, "disease": "", "pathway": " (hsa:23283); (R-HSA-72187); (R-HSA-73856); (R-HSA-77595); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 6, "publication_count": 118, "publication_id_list": "10669729;11060040;11230166;11747608;11979277;12408968;12773396;12871933;14519844;14749727;14762106;15037765;15084397;15565158;15998806;17128255;17190602;17525332;17984224;18288197;18411249;18957205;19217410;19413330;19664995;19836239;20573985;20695905;20844015;21295486;21911577;21947206;22121020;22207203;22813749;22928037;23186163;23222130;23299939;23301498;23481700;23874216;24076191;24149845;24244187;24715725;25301780;25301781;25576301;25645385;25662211;25836925;26092250;26154972;26992070;27108190;27600516;27846572;27920218;28096519;28334977;28411811;28510447;28832583;28904123;28911096;29186539;29242379;29274231;29351928;29393594;29557506;29632711;29786170;29902443;30139799;30257008;30429286;30524438;30599162;30626607;30779550;30833945;31154438;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32488085;32502341;32816001;32897882;32938616;32983136;33177556;33592498;33968037;33981976;34019948;34087483;34171305;34357683;34561969;34932366;35051231;35177536;35215846;35494241;35580925;36010968;36215666;36241641;36736099;40596516;9659921", "class_list": "", "function": "CSTF2T up-regulates IGHG1 by binding to ZEB1 to promote melanoma cell proliferation, migration, and invasion., [RefSeq, PubMed]; CSTF2tau binds many previously not recognized RNAs including histone, snoRNA and snRNAs. CSTF2tau-binding is associated with internal oligoadenylation resulting in shortened snRNA isoforms subjected to rapid degradation. CSTF2tau controls the abundance of snRNAs resulting in alternative splicing of several RNAs with critical roles in tumorigenesis and cardiac function., [RefSeq, PubMed]; May play a significant role in AAUAAA-independent mRNA polyadenylation in germ cells. Directly involved in the binding to pre-mRNAs (By similarity)., [UniProtKB]; Radiation hybrid mapping places the human tauCstF-64 gene at 10q22-q23, which is the site of a translocation that has been associated with human neurological problems and male infertility., [RefSeq, PubMed]; Structure of the RNA-binding domain of CstF-64 containing an RNA recognition motif (RRM) augmented by N- and C-terminal helices, [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": 6, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RAR9;O75174;Q53HK6;Q7LGE8;Q8N6T1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005847 mRNA cleavage and polyadenylation specificity factor complex", "go_biological_process": "GO:0031124 mRNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "Q9H0L4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H5Z6-1", "uniprot_id": [ { "id": "F124B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H5Z6", "type": "external" } ], "mass": 50961.0, "length": 455, "protein_name": "Protein FAM124B", "gene_name": "FAM124B", "organism": "Human", "refseq_name": "protein FAM124B isoform a", "refseq_ac": [ { "id": "NP_001116251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116251", "type": "external" } ], "gene_names_uniprotkb": "FAM124B", "gene_names_refseq": "FAM124B", "protein_names_uniprotkb": "Protein FAM124B", "protein_names_refseq": "family with sequence similarity 124B; protein FAM124B isoform a; protein FAM124B", "tax_id": 9606, "disease": "", "pathway": " (hsa:79843); (R-HSA-9943962)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10921920;11274398;11356022;11507205;11744694;15960975;16095617;16878130;16949368;17027977;17143291;17350655;17603073;18378692;20453063;21899694;23186163;23285124;23408615;28533432;29557506;30429286;31848261;32157095;33936100;6261960", "class_list": "", "function": "Fam124B is a novel protein possibly involved in the pathogenesis of CHARGE syndrome and neurodevelopmental disorders., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A6NNC7;Q8NBZ4;Q8TAV7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9H5Z6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14451-1", "uniprot_id": [ { "id": "GRB7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14451", "type": "external" } ], "mass": 59681.0, "length": 532, "protein_name": "Growth factor receptor-bound protein 7", "gene_name": "GRB7", "organism": "Human", "refseq_name": "growth factor receptor-bound protein 7 isoform a", "refseq_ac": [ { "id": "NP_001025173", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025173", "type": "external" } ], "gene_names_uniprotkb": "GRB7", "gene_names_refseq": "GRB7", "protein_names_uniprotkb": "Growth factor receptor-bound protein 7; B47; Epidermal growth factor receptor GRB-7; GRB7 adapter protein", "protein_names_refseq": "B47; GRB7 adapter protein; epidermal growth factor receptor GRB-7; growth factor receptor-bound protein 7 isoform a", "tax_id": 9606, "disease": "gastrointestinal carcinoma (Disease Ontology:DOID:0050922); esophageal carcinoma (Disease Ontology:DOID:1107); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); esophagus adenocarcinoma (Disease Ontology:DOID:4914); stomach carcinoma (Disease Ontology:DOID:5517); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:2886); (R-HSA-1306955); (R-HSA-1433557); (R-HSA-186763); (R-HSA-210993); (R-HSA-8853659); (R-HSA-9696273)", "pathway_count": 7, "publication_count": 179, "publication_id_list": "10051567;10358045;10377264;10397721;10448070;10508235;10521483;10523831;10523834;10579907;10664463;10679268;10803466;10884405;10893408;10995764;11000521;11002419;11191051;11237011;11237712;11360177;11390647;11395417;11447223;11470823;11491658;11494148;11520784;11566266;11607834;11689432;11707405;11784792;11809791;11886862;11940653;11969368;12021278;12062105;12192036;12223469;12242309;12660731;12771945;12824176;12842009;12878163;12975581;1314164;1371879;1374684;1375232;1375321;1381360;1396585;14665640;14749497;14766744;15044950;15143187;15286081;15526160;15569713;15738000;15841400;15893672;16129412;16483568;16737840;16873377;16895971;1721591;17255936;17344430;17662946;17894853;18669648;18697750;18853468;18996843;19103606;19473962;20304997;20622016;20665473;20811643;2466336;24690281;2472219;25576301;26992070;27536065;27658202;29242379;29393594;29485866;29557506;29632711;29704617;29789417;29964125;30779550;31085175;31844290;31848261;31871319;32488085;32577949;32737994;32938616;33162827;33968037;34087483;34171305;34783299;35051231;35318648;36284347;37354972;38129809;7478529;7506952;7509796;7523381;7526158;7536744;7665556;7680037;7685273;7691811;7692233;7935391;8388543;8443409;8611693;8628282;8631863;8636116;8637703;8647802;8647855;8657151;8662982;8663426;8674117;8695790;8774734;8940081;8950973;8980223;8988034;8990121;9038210;9045650;9047384;9111318;9125150;9192684;9256427;9299438;9355737;9407096;9446650;9484840;9488729;9491986;9516479;9531558;9546424;9632797;9690470;9710451;9739761;9764818;9764820;9799234;9872323;9883723", "class_list": "", "function": "Adapter protein that interacts with the cytoplasmic domain of numerous receptor kinases and modulates down-stream signaling. Promotes activation of down-stream protein kinases, including STAT3, AKT1, MAPK1 and/or MAPK3. Promotes activation of HRAS. Plays a role in signal transduction in response to EGF. Plays a role in the regulation of cell proliferation and cell migration. Plays a role in the assembly and stability of RNA stress granules. Binds to the 5'UTR of target mRNA molecules and represses translation of target mRNA species, when not phosphorylated. Phosphorylation impairs RNA binding and promotes stress granule disassembly during recovery after cellular stress (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; GRB7 is an oncogenic driver and potential therapeutic target in oesophageal adenocarcinoma., [RefSeq, PubMed]; GRB7 plays a promoting role in the progression of gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Growth factor receptor bound protein-7 regulates proliferation, cell cycle, and mitochondrial apoptosis of thyroid cancer cells via MAPK/ERK signaling., [RefSeq, PubMed]; Knockdown of growth factor receptor bound protein 7 suppresses angiogenesis by inhibiting the secretion of vascular endothelial growth factor A in ovarian cancer cells., [RefSeq, PubMed]; The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with epidermal growth factor receptor (EGFR) and ephrin receptors. The protein plays a role in the integrin signaling pathway and cell migration by binding with focal adhesion kinase (FAK). Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]., [RefSeq]; Upregulated GRB7 promotes proliferation and tumorigenesis of Bladder Cancer via Phospho-AKT 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 10, "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": "B2RAV1;B3KNL0;B3KWP9;B7WP75;J3KQM4;Q53YD3;Q92568;Q96DF9;Q9Y220", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019901 protein kinase binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0042995 cell projection;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0030335 positive regulation of cell migration;GO:0035556 intracellular signal transduction;GO:0007173 epidermal growth factor receptor signaling pathway;GO:0017148 negative regulation of translation;GO:0034063 stress granule assembly", "synthesized_glycan_count": 0, "hit_score": 18.2, "record_id": "Q14451-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00743-1", "uniprot_id": [ { "id": "PPP6_HUMAN", "url": "https://www.uniprot.org/uniprot/O00743", "type": "external" } ], "mass": 35144.0, "length": 305, "protein_name": "Serine/threonine-protein phosphatase 6 catalytic subunit", "gene_name": "PPP6C", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 6 catalytic subunit isoform a", "refseq_ac": [ { "id": "NP_001116827", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116827", "type": "external" } ], "gene_names_uniprotkb": "PPP6C; PPP6", "gene_names_refseq": "PP6C; PP6; PPP6C", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 6 catalytic subunit; 3.1.3.16; PP6C", "protein_names_refseq": "serine/threonine protein phosphatase catalytic subunit; serine/threonine-protein phosphatase 6 catalytic subunit isoform a; serine/threonine-protein phosphatase 6 catalytic subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:5537); (R-HSA-171319); (R-HSA-204005)", "pathway_count": 3, "publication_count": 164, "publication_id_list": "10227379;10445031;10559959;10679020;10747087;10788476;10825291;10903204;10982397;11035026;11237011;11285137;11306556;11927603;12070132;12235121;12699629;12750860;15037235;15060173;15189140;16303754;16339074;16495487;16522649;16624868;16769727;16912714;17005010;17038314;17079228;17172855;17192411;17287728;17316621;17395830;17562788;17568194;17684057;18186651;18358808;18523010;18843296;19164740;19179534;19383767;19638414;19656848;19734544;20068231;20404094;20524933;20545907;20679433;20966969;21478858;21532587;21689688;22013193;22157747;22544926;22579284;22675024;23103865;23378591;23479643;23481700;23657261;23698585;23864707;24119662;24397554;24715725;24917561;25128433;25202031;25271372;25406594;25492864;25576301;25586378;25619252;25620558;25802875;25892735;26154972;26811146;26992070;27335426;27600516;27846572;27920218;28218747;28228285;28514659;28832583;28904123;29053956;29178645;29242379;29331515;29393594;29493099;29508533;29557506;29632711;29695869;30315122;30410026;30429286;30779550;31154438;31217245;31723267;31844290;32157095;32350084;32357974;32387766;32474700;32488085;32502341;32753499;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33912179;33936100;33968037;34087483;34171305;34211107;34229054;34357683;34405274;34509645;35051231;35254053;35580925;36010968;36071040;36215666;36241641;36284347;37938771;38745265;38807188;40596516;40914422;8221884;8620540;8663406;9013334;9094723;9150144;9177194;9307973;9647643;9647778", "class_list": "", "function": "Catalytic subunit of protein phosphatase 6 (PP6) (PubMed:17079228, PubMed:29053956, PubMed:32474700). PP6 is a component of a signaling pathway regulating cell cycle progression in response to IL2 receptor stimulation (PubMed:10227379). N-terminal domain restricts G1 to S phase progression in cancer cells, in part through control of cyclin D1 (PubMed:17568194). During mitosis, regulates spindle positioning (PubMed:27335426). Down-regulates MAP3K7 kinase activation of the IL1 signaling pathway by dephosphorylation of MAP3K7 (PubMed:17079228). Also participates in the innate immune defense against viruses by desphosphorylating RIGI, an essential step that triggers RIGI-mediated signaling activation (PubMed:29053956). Also regulates innate immunity by acting as a negative regulator of the cGAS-STING pathway: mediates dephosphorylation and inactivation of CGAS and STING1 (PubMed:32474700, PubMed:32753499). CGAS dephosphorylation at 'Ser-435' impairs its ability to bind GTP, thereby inactivating it (PubMed:32474700)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; M6A-induced transcription factor IRF5 contributes to the progression of cervical cancer by upregulating PPP6C., [RefSeq, PubMed]; PP6 negatively modulates LUBAC-mediated M1-ubiquitination of RIPK1 and c-FLIPL to promote TNFalpha-mediated cell death. Publication Status: Online-Only, [RefSeq, PubMed]; The protein phosphatase PP6 promotes RIPK1-dependent PANoptosis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the catalytic subunit of protein phosphatase, a component of a signaling pathway regulating cell cycle progression. Splice variants encoding different protein isoforms exist. The pseudogene of this gene is located on chromosome X. [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": 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": "B2R5V6;B7Z2W9;B7Z5K9;Q5U0A2;Q9UIC9", "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": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "5.4.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "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" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004722 protein serine/threonine phosphatase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0045087 innate immune response;GO:0048208 COPII vesicle coating;GO:0000082 G1/S transition of mitotic cell cycle;GO:0006470 protein dephosphorylation;GO:0160049 negative regulation of cGAS/STING signaling pathway", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "O00743-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3E5-1", "uniprot_id": [ { "id": "PTH2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3E5", "type": "external" } ], "mass": 19194.0, "length": 179, "protein_name": "Peptidyl-tRNA hydrolase 2, mitochondrial", "gene_name": "PTRH2", "organism": "Human", "refseq_name": "peptidyl-tRNA hydrolase 2, mitochondrial isoform a", "refseq_ac": [ { "id": "NP_001015509", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015509", "type": "external" } ], "gene_names_uniprotkb": "PTRH2; BIT1; CGI-147; PTH2", "gene_names_refseq": "BIT1; CFAP37; CGI-147; IMNEPD; PTH 2; PTH2; PTRH2", "protein_names_uniprotkb": "Peptidyl-tRNA hydrolase 2, mitochondrial; 3.1.1.29; Bcl-2 inhibitor of transcription 1; PTH 2", "protein_names_refseq": "bcl-2 inhibitor of transcription 1; cilia and flagella associated protein 37; peptidyl-tRNA hydrolase 2, mitochondrial isoform a; peptidyl-tRNA hydrolase 2, mitochondrial", "tax_id": 9606, "disease": "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 (MONDO:MONDO:8000012)", "pathway": " (hsa:51651); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 112, "publication_id_list": "10444327;10982817;11237011;11566882;11923872;12917689;12917691;14660562;14661020;15006356;15053880;15916963;16214042;16901786;16964248;17290220;17443180;17511679;17873522;17980597;17981138;18172164;18467330;18632802;18636086;18669648;18703509;19015242;19135894;19188362;19363159;19398555;19415658;19424180;19578750;19838211;19874889;19910467;20068231;20096447;20228808;20368735;20501646;21239494;21362556;21383007;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;22299025;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24896179;25197364;25305019;25502872;25558065;25574476;25576301;25578727;25621951;25645385;27184847;27452731;28063628;28228285;28467828;28510447;28832583;28904123;29242379;29393594;29557506;29632046;29786170;31844290;31848261;32161166;32357974;32387766;32488085;32897882;32938616;33141586;33298915;33537174;33592498;33936100;33968037;34087483;34357683;34509645;35051231;35154160;35251023;35580925;35737738;37239392;37938771;7578059", "class_list": "", "function": "Bit-1 mediates integrin-dependent cell survival through activation of the NFkappaB pathway, [RefSeq, PubMed]; Bit1 is involved in regulation between integrin and TGFbeta signaling in lens epithelial cells., [RefSeq, PubMed]; PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Peptidyl-tRNA hydrolase which releases tRNAs from the ribosome during protein synthesis (PubMed:14660562). Promotes caspase-independent apoptosis by regulating the function of two transcriptional regulators, AES and TLE1., [UniProtKB, PubMed, PubMed]; Peptidyl-tRNA hydrolase which releases tRNAs from the ribosome during protein synthesis. Promotes caspase-independent apoptosis by regulating the function of two transcriptional regulators, AES and TLE1., [UniProtKB, UniProtKB]; Reduced expression of the proapoptotic proteins Bit1 or overexpression of Bcl-2 improved myoblast transplantation survival., [RefSeq, PubMed]; Results identify Bit1, a mitochondrial protein released into the cytoplasm during apoptosis that forms a complex with AES, a small Groucho/transducin-like enhancer of split (TLE) protein Erratum:[Cell. 2005 Aug 12;122(3):485-6], [RefSeq, PubMed]; TAp63gamma could induce apoptosis in human esophageal squamous cancer EC9706 cells, through at least releasing AIF and Bit1 from mitochindria into cytosol and nucleus, where apoptotic cascade takes place., [RefSeq, PubMed]; The PKD serine/threonine kinase is one of the signaling molecules through which integrin-mediated cell attachment controls Bit1 activity and anoikis Erratum:[J Biol Chem. 2011 Mar 4;286(9):7714], [RefSeq, PubMed]; The protein encoded by this gene is a mitochondrial protein with two putative domains, an N-terminal mitochondrial localization sequence, and a UPF0099 domain. In vitro assays suggest that this protein possesses peptidyl-tRNA hydrolase activity, to release the peptidyl moiety from tRNA, thereby preventing the accumulation of dissociated peptidyl-tRNA that could reduce the efficiency of translation. This protein also plays a role regulating cell survival and death. It promotes survival as part of an integrin-signaling pathway for cells attached to the extracellular matrix (ECM), but also promotes apoptosis in cells that have lost their attachment to the ECM, a process called anoikos. After loss of cell attachment to the ECM, this protein is phosphorylated, is released from the mitochondria into the cytosol, and promotes caspase-independent apoptosis through interactions with transcriptional regulators. This gene has been implicated in the development and progression of tumors, and mutations in this gene have been associated with an infantile multisystem neurologic, endocrine, and pancreatic disease (INMEPD) characterized by intellectual disability, postnatal microcephaly, progressive cerebellar atrophy, hearing impairment, polyneuropathy, failure to thrive, and organ fibrosis with exocrine pancreas insufficiency (PMID: 25574476). Alternative splicing results in multiple transcript variants encoding different isoforms. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B3KUY4;Q9NTE5", "ec_number_list": [ { "id": "3.4.24.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.56", "type": "external" }, { "id": "3.1.1.29", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.29", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.5.-", "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" } ], "go_molecular_function": "GO:0004045 peptidyl-tRNA hydrolase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0010629 negative regulation of gene expression;GO:0006915 apoptotic process;GO:2000210 positive regulation of anoikis;GO:2000811 negative regulation of anoikis", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q9Y3E5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BSW2-2", "uniprot_id": [ { "id": "EFC4B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BSW2", "type": "external" } ], "mass": 83193.0, "length": 731, "protein_name": "EF-hand calcium-binding domain-containing protein 4B", "gene_name": "CRACR2A", "organism": "Human", "refseq_name": "EF-hand calcium-binding domain-containing protein 4B isoform a", "refseq_ac": [ { "id": "NP_001138430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138430", "type": "external" } ], "gene_names_uniprotkb": "CRACR2A; EFCAB4B; RAB46", "gene_names_refseq": "CRACR2A; EFCAB4B; RAB46", "protein_names_uniprotkb": "EF-hand calcium-binding domain-containing protein 4B; 3.6.5.2; CRAC channel regulator 2A; Calcium release-activated calcium channel regulator 2A; Calcium release-activated channel regulator 2A; Ras-related protein Rab-46", "protein_names_refseq": "CRAC channel regulator 2A; CRAC regulator 2A; Ca2+ release-activated Ca2+ (CRAC) channel regulator 2A; EF-hand calcium binding domain 4B; EF-hand calcium-binding domain-containing protein 4B isoform a; EF-hand calcium-binding domain-containing protein 4B; calcium release-activated calcium channel regulator 2A; ras-related protein Rab-46", "tax_id": 9606, "disease": "", "pathway": " (hsa:84766); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "20418871;23481700;23650620;25475730;25576301;25645385;27016526;28832583;29987160;30814157;31092558;32938616;33968037;33981976;35494241;8692836", "class_list": "", "function": "CRACR2A interacts directly with Orai1 and STIM1, forming a ternary complex that dissociates at elevated Ca(2+) concentrations; is a key regulator of CRAC channel-mediated SOCE, [RefSeq, PubMed]; Ca(2+)-binding protein that plays a key role in store-operated Ca(2+) entry (SOCE) in T-cells by regulating CRAC channel activation. Acts as a cytoplasmic calcium-sensor that facilitates the clustering of ORAI1 and STIM1 at the junctional regions between the plasma membrane and the endoplasmic reticulum upon low Ca(2+) concentration. It thereby regulates CRAC channel activation, including translocation and clustering of ORAI1 and STIM1. Upon increase of cytoplasmic Ca(2+) resulting from opening of CRAC channels, dissociates from ORAI1 and STIM1, thereby destabilizing the ORAI1-STIM1 complex., [UniProtKB, PubMed, PubMed]; Endothelial cells contain a long variant of CRACR2A which is an EF-hand-containing Rab protein that lacks impact on CRAC channels, [RefSeq, PubMed]; Rab GTPase that mediates the trafficking of Weibel-Palade bodies (WPBs) to microtubule organizing center (MTOC) in endothelial cells in response to acute inflammatory stimuli (PubMed:31092558). During histamine (but not thrombin) stimulation of endothelial cells, the dynein-bound form induces retrograde transport of a subset of WPBs along microtubules to the MTOC in a Ca(2+)-independent manner and its GTPase activity is essential for this function (PubMed:31092558). Ca(2+)-regulated dynein adapter protein that activates dynein-mediated transport and dynein-dynactin motility on microtubules and regulates endosomal trafficking of CD47 (PubMed:30814157). Acts as an intracellular signaling module bridging two important T-cell receptor (TCR) signaling pathways, Ca(2+)-NFAT and JNK, to affect T-cell activation (PubMed:27016526). In resting T-cells, is predominantly localized near TGN network in a GTP-bound form, upon TCR stimulation, localizes at the immunological synapse via interaction with VAV1 to activate downstream Ca(2+)-NFAT and JNK signaling pathways (PubMed:27016526). Plays a role in T-helper 1 (Th1) cell differentiation and T-helper 17 (Th17) cell effector function (PubMed:29987160). Plays a role in store-operated Ca(2+) entry (SOCE) in T-cells by regulating CRAC channel activation (PubMed:27016526)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; These data demonstrate for the first time that a Rab GTPase, Rab46, integrates G protein and Ca(2+) signals to couple on-demand histamine signals to selective Weibel-Palade bodies (WPBs) trafficking., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 9, "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": "B4E1X0;B9EK63", "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": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.7.1.35", "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": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "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": "2.3.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.155", "type": "external" }, { "id": "1.4.3.22", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.22", "type": "external" }, { "id": "1.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.-", "type": "external" }, { "id": "3.4.24.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.34", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "3.2.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.14", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "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": "3.2.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.18", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.5.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.3", "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": "3.2.1.166", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.166", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0005509 calcium ion binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0045063 T-helper 1 cell differentiation;GO:0034776 response to histamine;GO:0046330 positive regulation of JNK cascade;GO:0002250 adaptive immune response;GO:0016197 endosomal transport", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9BSW2-2", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06400-1", "uniprot_id": [ { "id": "RB_HUMAN", "url": "https://www.uniprot.org/uniprot/P06400", "type": "external" } ], "mass": 106159.0, "length": 928, "protein_name": "Retinoblastoma-associated protein", "gene_name": "RB1", "organism": "Human", "refseq_name": "retinoblastoma-associated protein isoform 1", "refseq_ac": [ { "id": "NP_000312", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000312", "type": "external" } ], "gene_names_uniprotkb": "RB1", "gene_names_refseq": "OSRC; PPP1R130; RB1; RB; p105-Rb; p110-RB1; pRb; pp110", "protein_names_uniprotkb": "Retinoblastoma-associated protein; Rb; p105-Rb; p110-RB1; pRb; pp110", "protein_names_refseq": "prepro-retinoblastoma-associated protein; protein phosphatase 1, regulatory subunit 130; retinoblastoma 1; retinoblastoma suspectibility protein; retinoblastoma-associated protein isoform 1; retinoblastoma-associated protein", "tax_id": 9606, "disease": "small cell carcinoma (Disease Ontology:DOID:0050685); glioblastoma proneural subtype (Disease Ontology:DOID:0050804); ductal carcinoma in situ (Disease Ontology:DOID:0060074); prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054); cancer (Disease Ontology:DOID:162); acute kidney failure (Disease Ontology:DOID:3021); glioblastoma (Disease Ontology:DOID:3068); oligodendroglioma (Disease Ontology:DOID:3181); embryonal carcinoma (Disease Ontology:DOID:3308); osteosarcoma (Disease Ontology:DOID:3347); seminoma (Disease Ontology:DOID:4440); renal cell carcinoma (Disease Ontology:DOID:4450); familial retinoblastoma (Disease Ontology:DOID:4648); hepatocellular carcinoma (Disease Ontology:DOID:684); retinoblastoma (Disease Ontology:DOID:768); in situ carcinoma (Disease Ontology:DOID:8719); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:5925); (R-HSA-113501); (R-HSA-174178); (R-HSA-2299718); (R-HSA-2559584); (R-HSA-2559585); (R-HSA-69200); (R-HSA-69202); (R-HSA-69205); (R-HSA-69231); (R-HSA-69656); (R-HSA-8940973); (R-HSA-9661069); (R-HSA-9661070); (R-HSA-9682706); (R-HSA-9687136); (R-HSA-9694686); (R-HSA-9725371); (R-HSA-9764790); (R-HSA-9841922)", "pathway_count": 20, "publication_count": 479, "publication_id_list": 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"class_list": "", "function": "(Microbial infection) In case of viral infections, interactions with SV40 large T antigen, HPV E7 protein or adenovirus E1A protein induce the disassembly of RB1-E2F1 complex thereby disrupting RB1's activity., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; An intermediate Rb-E2F activity state safeguards proliferation commitment., [RefSeq, PubMed]; RB1 Genetic Alterations in Estrogen Receptor-Positive Breast Carcinomas: Correlation With Neuroendocrine Differentiation., [RefSeq, PubMed]; The G1-S transition is promoted by Rb degradation via the E3 ligase UBR5., [RefSeq, PubMed]; The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]., [RefSeq]; Tumor suppressor that is a key regulator of the G1/S transition of the cell cycle (PubMed:10499802). The hypophosphorylated form binds transcription regulators of the E2F family, preventing transcription of E2F-responsive genes (PubMed:10499802). Both physically blocks E2Fs transactivating domain and recruits chromatin-modifying enzymes that actively repress transcription (PubMed:10499802). Cyclin and CDK-dependent phosphorylation of RB1 induces its dissociation from E2Fs, thereby activating transcription of E2F responsive genes and triggering entry into S phase (PubMed:10499802). RB1 also promotes the G0-G1 transition upon phosphorylation and activation by CDK3/cyclin-C (PubMed:15084261). Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases SUV39H1, KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Inhibits the intrinsic kinase activity of TAF1. Mediates transcriptional repression by SMARCA4/BRG1 by recruiting a histone deacetylase (HDAC) complex to the c-FOS promoter. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex (By similarity)., [UniProtKB, UniProtKB, UniProtKB, 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": 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": 71, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 155, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 2, "disease_count": 19, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K5E3;P78499;Q5VW46;Q8IZL4", "ec_number_list": [], "go_molecular_function": "GO:0061676 importin-alpha family protein binding;GO:0060090 molecular adaptor activity;GO:0042802 identical protein binding;GO:0003714 transcription corepressor activity;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005819 spindle;GO:0005829 cytosol", "go_biological_process": "GO:1903055 positive regulation of extracellular matrix organization;GO:1903944 negative regulation of hepatocyte apoptotic process;GO:0071459 protein localization to chromosome, centromeric region;GO:1904761 negative regulation of myofibroblast differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 48.5, "record_id": "P06400-1", "record_type": "protein", "filter_code": "0001000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQY4-1", "uniprot_id": [ { "id": "RHXF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQY4", "type": "external" } ], "mass": 31692.0, "length": 288, "protein_name": "Rhox homeobox family member 2", "gene_name": "RHOXF2", "organism": "Human", "refseq_name": "rhox homeobox family member 2", "refseq_ac": [ { "id": "NP_115887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115887", "type": "external" } ], "gene_names_uniprotkb": "RHOXF2; PEPP2; THG1", "gene_names_refseq": "CT107; PEPP-2; PEPP2; RHOXF2; THG1", "protein_names_uniprotkb": "Rhox homeobox family member 2; Paired-like homeobox protein PEPP-2; Testis homeobox gene 1", "protein_names_refseq": "PEPP subfamily gene 2; cancer/testis antigen 107; homeobox protein from AL590526; paired-like homeobox protein PEPP-2; rhox homeobox family member 2; testis homeobox gene 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84528)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "12490318;21874235;28171660;31000629;32157095;32897882;32938616;33141586", "class_list": "", "function": "Human Thg1, two critical tRNA-interacting residues, His-152 and Lys-187, alanine-substituted variants maintain a similar overall interaction with the anticodon region, arguing against the sufficiency of this interaction for driving catalysis. Instead, conservative mutagenesis revealed a new direct function for these residues in recognition of a non-Watson-Crick G-1:A73 bp, [RefSeq, PubMed]; RHOXF2 is highly expressed in some leukemia cell lines and a variety of human cancers. Results indicate that RHOXF2 is involved in carcinogenesis., [RefSeq, PubMed]; This gene, which encodes a transcriptional repressor, is one of two paralogous X-linked homeobox-containing genes and is highly expressed in a variety of cancers. In addition, the encoded protein associates with the cell membrane and with microtubules, and is concentrated at the leading edge of migratory cells. [provided by RefSeq, Dec 2015]., [RefSeq]; Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis., [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": 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": "Q9BR00", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0010628 positive regulation of gene expression;GO:0048666 neuron development", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9BQY4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BWG6-1", "uniprot_id": [ { "id": "SCNM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BWG6", "type": "external" } ], "mass": 25949.0, "length": 230, "protein_name": "Sodium channel modifier 1", "gene_name": "SCNM1", "organism": "Human", "refseq_name": "TNFAIP8L2-SCNM1 protein", "refseq_ac": [ { "id": "NP_001191777", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191777", "type": "external" } ], "gene_names_uniprotkb": "SCNM1", "gene_names_refseq": "TNFAIP8L2-SCNM1", "protein_names_uniprotkb": "Sodium channel modifier 1", "protein_names_refseq": "Sodium channel modifier 1; TNFAIP8L2-SCNM1 protein", "tax_id": 9606, "disease": "orofaciodigital syndrome XIX (Disease Ontology:DOID:0060960)", "pathway": " (hsa:100534012); (hsa:79005)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "17656373;18220336;18669648;20068231;23186163;23481700;24715725;25576301;25892735;26154972;26811146;26992070;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28855257;28904123;29242379;29508533;29557506;29632711;29769354;29786170;30315122;30429286;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32387766;32488085;32897882;32983136;33141586;33298915;33392160;33691108;33717175;33912179;33936100;34211107;34509645;35051231;35561310;35580925;36084634;36284347;36581221", "class_list": "", "function": "As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (PubMed:36084634). Plays a role in the regulation of primary cilia length and Hedgehog signaling (PubMed:36084634)., [UniProtKB, PubMed]; This locus represents naturally occurring read-through transcription between the neighboring TNFAIP8L2 (tumor necrosis factor, alpha-induced protein 8-like 2) and SCNM1 (sodium channel modifier 1) genes on chromosome 1. The protein-coding read-through transcript variant encodes a protein that shares sequence identity with the downstream gene product but its N-terminal region is shorter due to alternate exon use relative to the downstream gene. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B4DWR1;Q5JR74", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005634 nucleus;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0008380 RNA splicing;GO:0000398 mRNA splicing, via spliceosome;GO:0000380 alternative mRNA splicing, via spliceosome;GO:0000388 spliceosome conformational change to release U4 (or U4atac) and U1 (or U11)", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9BWG6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBE0-1", "uniprot_id": [ { "id": "BAHD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBE0", "type": "external" } ], "mass": 84652.0, "length": 780, "protein_name": "Bromo adjacent homology domain-containing 1 protein", "gene_name": "BAHD1", "organism": "Human", "refseq_name": "bromo adjacent homology domain-containing 1 protein isoform b", "refseq_ac": [ { "id": "NP_001288061", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288061", "type": "external" } ], "gene_names_uniprotkb": "BAHD1; KIAA0945", "gene_names_refseq": "BAHD1", "protein_names_uniprotkb": "Bromo adjacent homology domain-containing 1 protein; BAH domain-containing protein 1", "protein_names_refseq": "BAH domain-containing protein 1; bromo adjacent homology domain-containing 1 protein isoform b; bromo adjacent homology domain-containing 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:22893)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "18669648;19007248;19664994;19664995;19666599;19690332;20068231;21252314;22424782;23186163;23481700;24366607;24449750;24714562;24715725;25418920;25576301;25645385;25892735;26154972;26183847;26992070;27862975;28467828;28904123;29557506;30429286;31154438;31844290;32157095;32357974;32387766;32407325;32502341;32897882;32938616;32983136;33141586;33156908;33298915;33592498;33823544;33936100;33968037;34171305;34211107;34509645;35048286;35051231;35580925;36010968;36215666", "class_list": "", "function": "A conserved BAH module within mammalian BAHD1 connects H3K27me3 to Polycomb gene silencing., [RefSeq, PubMed]; Authors identified a dilysine motif (K180/K181) in the elbow region of Listeria monocytogenes LntA and a central proline-rich region in human BAHD1 as crucial for the direct LntA-BAHD1 interaction. Publication Status: Online-Only, [RefSeq, PubMed]; BAHD1 acts as a silencer by recruiting at specific promoters a set of proteins that coordinate heterochromatin assembly, [RefSeq, PubMed]; BAHD1 serves as a critical regulator of breast cancer cell proliferation and invasion. Erratum:[Breast Cancer. 2022 Nov;29(6):1140. doi: 10.1007/s12282-022-01402-9. PMID: 36112339], [RefSeq, PubMed]; Computational approaches leveraging public gene expression data can be used to infer potential genes or proteins for diseases, and BAHD1 might act as an indispensable factor in regulating the cellular inflammatory response in UC. Publication Status: Online-Only, [RefSeq, PubMed]; FBXO11-mediated proteolysis of BAHD1 relieves PRC2-dependent transcriptional repression in erythropoiesis., [RefSeq, PubMed]; Findings show a Listeria virulence factor, lmo0438/lntA, could target the chromatin repressor BAHD1 in host cell nucleus to activate interferon-stimulated genes; LntA-BAHD1 interplay may modulate IFN-lambda-mediated immune response to control host colonization, [RefSeq, PubMed]; Heterochromatin protein that acts as a transcription repressor and has the ability to promote the formation of large heterochromatic domains. May act by recruiting heterochromatin proteins such as CBX5 (HP1 alpha), HDAC5 and MBD1. Represses IGF2 expression by binding to its CpG-rich P3 promoter and recruiting heterochromatin proteins. At specific stages of Listeria infection, in complex with TRIM28, corepresses interferon-stimulated genes, including IFNL1, IFNL2 and IFNL3., [UniProtKB, PubMed, PubMed]; The effect of partial BAHD1 deficiency on behavior was then evaluated on Bahd1 heterozygous male mice, which have no lethal or metabolic phenotypes. Bahd1+/- mice showed anxiety-like behavior and reduced prepulse inhibition (PPI) of the startle response. Erratum:[PLoS One. 2025 Mar 21;20(3):e0320947. doi: 10.1371/journal.pone.0320947. PMID: 40117285] 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": 8, "reported_mutagensis": 0, "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": "Q8NDF7;Q9Y2F4", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005694 chromosome;GO:0005677 chromatin silencing complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q8TBE0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13137-1", "uniprot_id": [ { "id": "CACO2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13137", "type": "external" } ], "mass": 52254.0, "length": 446, "protein_name": "Calcium-binding and coiled-coil domain-containing protein 2", "gene_name": "CALCOCO2", "organism": "Human", "refseq_name": "calcium-binding and coiled-coil domain-containing protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001248319", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248319", "type": "external" } ], "gene_names_uniprotkb": "CALCOCO2; NDP52", "gene_names_refseq": "CALCOCO2; NDP52", "protein_names_uniprotkb": "Calcium-binding and coiled-coil domain-containing protein 2; Antigen nuclear dot 52 kDa protein; Nuclear domain 10 protein 52; Nuclear domain 10 protein NDP52; Nuclear dot protein 52", "protein_names_refseq": "antigen nuclear dot 52 kDa protein; calcium-binding and coiled-coil domain-containing protein 2 isoform 1; calcium-binding and coiled-coil domain-containing protein 2; nuclear domain 10 protein 52; nuclear domain 10 protein NDP52; nuclear dot protein 52", "tax_id": 9606, "disease": "", "pathway": " (hsa:10241)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "11237011;12869526;14747555;17635994;22246324;22645359;23022382;23186163;23386746;23511477;24331465;24714562;25418920;25502872;25576301;25771791;25892735;26024233;26375851;26811146;26992070;27846572;27920218;28218747;28514659;28832583;28904123;29242379;29314611;29393594;29493099;29557506;29632046;29632711;29786170;30315122;30459273;30626607;31217245;31371777;31530632;31844290;31848261;32157095;32265295;32350084;32387766;32502341;32938616;32983136;33298915;33592498;33633747;33912179;33936100;33968037;34357683;34433824;35051231;35154160;35251023;35494241;36215666;36514953;37777549;37942585;38752371;39269442;7540613;9230084", "class_list": "", "function": "CALCOCO2/NDP52 associates with RAB9 to initiate an antiviral response to hepatitis B virus infection through a lysosomal degradation pathway., [RefSeq, PubMed]; Crotonylated BEX2 interacts with NDP52 and enhances mitophagy to modulate chemotherapeutic agent-induced apoptosis in non-small-cell lung cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Interacts with ICP4 regulatory protein of HSV-1 during early stage of infection, [RefSeq, PubMed]; NDP52 SUMOylation contributes to low-dose X-rays-induced cardiac hypertrophy through PINK1/Parkin-mediated mitophagy via MUL1/SUMO2 signalling., [RefSeq, PubMed]; NDP52 acts as a redox sensor in PINK1/Parkin-mediated mitophagy., [RefSeq, PubMed]; This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a receptor for ubiquitin-coated bacteria and plays an important role in innate immunity by mediating macroautophagy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]., [RefSeq]; Vangl2 suppresses NF-kappaB signaling and ameliorates sepsis by targeting p65 for NDP52-mediated autophagic degradation. Publication Status: Online-Only, [RefSeq, PubMed]; Xenophagy-specific receptor required for autophagy-mediated intracellular bacteria degradation. Acts as an effector protein of galectin-sensed membrane damage that restricts the proliferation of infecting pathogens such as Salmonella typhimurium upon entry into the cytosol by targeting LGALS8-associated bacteria for autophagy (PubMed:22246324). Initially orchestrates bacteria targeting to autophagosomes and subsequently ensures pathogen degradation by regulating pathogen-containing autophagosome maturation (PubMed:23022382, PubMed:25771791). Bacteria targeting to autophagosomes relies on its interaction with MAP1LC3A, MAP1LC3B and/or GABARAPL2, whereas regulation of pathogen-containing autophagosome maturation requires the interaction with MAP3LC3C (PubMed:23022382, PubMed:25771791). May play a role in ruffle formation and actin cytoskeleton organization and seems to negatively regulate constitutive secretion (PubMed:17635994)., [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": 2, "reported_mutagensis": 9, "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": "B2RBT0;B4DDC4;B4DDT4;B4DP36;B4E0C0;E7ENK0;E7ETP5;E9PBE5;Q53FQ5;Q53HB5;Q6IBN9;Q9BTF7", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0016032 viral process;GO:1901098 positive regulation of autophagosome maturation;GO:0098792 xenophagy;GO:0034341 response to type II interferon;GO:0006914 autophagy", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q13137-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15503-1", "uniprot_id": [ { "id": "INSI1_HUMAN", "url": "https://www.uniprot.org/uniprot/O15503", "type": "external" } ], "mass": 29987.0, "length": 277, "protein_name": "Insulin-induced gene 1 protein", "gene_name": "INSIG1", "organism": "Human", "refseq_name": "insulin-induced gene 1 protein isoform 4", "refseq_ac": [ { "id": "NP_001333519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333519", "type": "external" } ], "gene_names_uniprotkb": "INSIG1", "gene_names_refseq": "CL6; INSIG1", "protein_names_uniprotkb": "Insulin-induced gene 1 protein; INSIG-1", "protein_names_refseq": "INSIG-1 membrane protein; insulin-induced gene 1 protein isoform 4; insulin-induced gene 1 protein", "tax_id": 9606, "disease": "steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:3638); (R-HSA-1655829)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "10397761;10428864;10644685;10805775;11237011;11283257;12115587;12202038;12535518;14645851;14660594;14978097;15550381;15899885;16115862;16168377;16399501;16606821;17043353;17449569;20068067;22143767;23481256;25418920;25576301;25892735;26154972;26311497;26811146;26929215;26992070;28228285;28446606;28514659;28604676;28832583;28834231;28849786;28904123;29184177;29242379;29374057;29557506;29632046;29632711;29769354;30315122;30410026;30429286;31217245;31844290;31875875;32322062;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33722690;33912179;33936100;34198853;34298014;34405274;34932366;35051231;35318648;35561310;35580925;36284347;36581221;37087475;37938771;39894887;8156598;8674110;9268630;9488713;9634703;9659902", "class_list": "", "function": "A novel protein encoded by circINSIG1 reprograms cholesterol metabolism by promoting the ubiquitin-dependent degradation of INSIG1 in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; INSIG1 and p41 Arp2/3 complex (p41-Arc)reduced expression might be involved in gastric cancer development or progression, [RefSeq, PubMed]; Insulin-induced genes INSIG1 and INSIG2 mediate oxysterol-dependent activation of the PERK-eIF2alpha-ATF4 axis., [RefSeq, PubMed]; Mediates feedback control of cholesterol synthesis., [UniProtKB, UniProtKB, UniProtKB]; Oxysterol-binding protein that mediates feedback control of cholesterol synthesis by controlling both endoplasmic reticulum to Golgi transport of SCAP and degradation of HMGCR (PubMed:12202038, PubMed:12535518, PubMed:16168377, PubMed:16399501, PubMed:16606821, PubMed:32322062). Acts as a negative regulator of cholesterol biosynthesis by mediating the retention of the SCAP-SREBP complex in the endoplasmic reticulum, thereby blocking the processing of sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:12202038, PubMed:16399501, PubMed:26311497, PubMed:32322062). Binds oxysterol, including 25-hydroxycholesterol, regulating interaction with SCAP and retention of the SCAP-SREBP complex in the endoplasmic reticulum (PubMed:32322062). In presence of oxysterol, interacts with SCAP, retaining the SCAP-SREBP complex in the endoplasmic reticulum, thereby preventing SCAP from escorting SREBF1/SREBP1 and SREBF2/SREBP2 to the Golgi (PubMed:15899885, PubMed:32322062). Sterol deprivation or phosphorylation by PCK1 reduce oxysterol-binding, disrupting the interaction between INSIG1 and SCAP, thereby promoting Golgi transport of the SCAP-SREBP complex, followed by processing and nuclear translocation of SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:26311497, PubMed:32322062). Also regulates cholesterol synthesis by regulating degradation of HMGCR: initiates the sterol-mediated ubiquitin-mediated endoplasmic reticulum-associated degradation (ERAD) of HMGCR via recruitment of the reductase to the ubiquitin ligases AMFR/gp78 and/or RNF139 (PubMed:12535518, PubMed:16168377, PubMed:22143767). Also regulates degradation of SOAT2/ACAT2 when the lipid levels are low: initiates the ubiquitin-mediated degradation of SOAT2/ACAT2 via recruitment of the ubiquitin ligases AMFR/gp78 (PubMed:28604676)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Suppression of insulin-induced gene 1 (INSIG1) function promotes hepatic lipid remodelling and restrains NASH progression., [RefSeq, PubMed]; The Propensity of the Human Liver to Form Large Lipid Droplets Is Associated with PNPLA3 Polymorphism, Reduced INSIG1 and NPC1L1 Expression and Increased Fibrogenetic Capacity. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an endoplasmic reticulum membrane protein that regulates cholesterol metabolism, lipogenesis, and glucose homeostasis. The encoded protein has six transmembrane helices which contain an effector protein binding site. It binds the sterol-sensing domains of sterol regulatory element-binding protein (SREBP) cleavage-activating protein (SCAP) and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMG-CoA reductase), and is essential for the sterol-mediated trafficking of these two proteins. It promotes the endoplasmic reticulum retention of SCAP and the ubiquitin-mediated degradation of HMG-CoA reductase. Alternative splicing results in multiple transcript variants. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A4D2N1;A8K6L0;Q53XW8;Q9BUV5", "ec_number_list": [], "go_molecular_function": "GO:0008142 oxysterol binding;GO:0140311 protein sequestering activity;GO:0008289 lipid binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0032937 SREBP-SCAP-Insig complex", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0008203 cholesterol metabolic process;GO:0032869 cellular response to insulin stimulus;GO:0006695 cholesterol biosynthetic process;GO:0042632 cholesterol homeostasis", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "O15503-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZN3-1", "uniprot_id": [ { "id": "EHD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZN3", "type": "external" } ], "mass": 60887.0, "length": 535, "protein_name": "EH domain-containing protein 3", "gene_name": "EHD3", "organism": "Human", "refseq_name": "EH domain-containing protein 3", "refseq_ac": [ { "id": "NP_055415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055415", "type": "external" } ], "gene_names_uniprotkb": "EHD3; EHD2; PAST3", "gene_names_refseq": "EHD3; PAST3", "protein_names_uniprotkb": "EH domain-containing protein 3; PAST homolog 3", "protein_names_refseq": "EH domain-containing protein 3; PAST homolog 3", "tax_id": 9606, "disease": "Cole-Carpenter syndrome (Disease Ontology:DOID:0060438)", "pathway": " (hsa:30845); (R-HSA-983231)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "10673336;11042108;11062261;11242053;11744692;11751636;11895428;11950885;12032298;12121420;12134158;12427746;12665801;15020713;15247287;15710388;16054028;16251358;1630448;17027967;17196961;17233914;18331452;19139087;19293402;19413330;19864458;20489164;20530532;20627800;21791287;218813;23754701;23781025;24019528;25576301;25645385;25686250;26226295;26845023;26992070;27811356;27862975;28228285;29242379;29393594;29437277;29493099;29557506;31217245;31844290;32502341;32938616;32983136;33141586;33298915;33592498;33912179;33936100;34087483;3409321;34171305;34357683;35051231;36010968;8662638;8816476;9065479;9230307;9326583;9331217;9422515;9927674", "class_list": "", "function": "ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis (PubMed:25686250). In vitro causes tubulation of endocytic membranes (PubMed:24019528). Binding to phosphatidic acid induces its membrane tubulation activity (By similarity). Plays a role in endocytic transport. Involved in early endosome to recycling endosome compartment (ERC), retrograde early endosome to Golgi, and endosome to plasma membrane (rapid recycling) protein transport. Involved in the regulation of Golgi maintenance and morphology (PubMed:16251358, PubMed:17233914, PubMed:19139087, PubMed:23781025). Involved in the recycling of internalized D1 dopamine receptor (PubMed:21791287). Plays a role in cardiac protein trafficking probably implicating ANK2 (PubMed:20489164). Involved in the ventricular membrane targeting of SLC8A1 and CACNA1C and probably the atrial membrane localization of CACNA1GG and CACNA1H implicated in the regulation of atrial myocyte excitability and cardiac conduction (By similarity). In conjunction with EHD4 may be involved in endocytic trafficking of KDR/VEGFR2 implicated in control of glomerular function (By similarity). Involved in the rapid recycling of integrin beta-3 implicated in cell adhesion maintenance (PubMed:23781025). 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, an early step in cilium biogenesis; possibly sharing redundant functions with EHD1 (PubMed:25686250)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Data provide evidence that EHD3 might undergo its tumor suppressor functions at least in part through promoting the sorting of activated EGFR to the lysosomal degradative compartment and spatio-temporal regulation of EGFR signaling via ERK and AKT., [RefSeq, PubMed]; EHD3: a protein that resides in recycling tubular and vesicular membrane structures and interacts with EHD1., [RefSeq, PubMed]; Presented herein promote a coordinated role for EHD proteins and Rab11-FIP2 in mediating endocytic recycling and provide evidence for the function of EHD3 in early endosome to endocytic recycling compartment 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": 2, "reported_mutagensis": 5, "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": "B4DFR5;D6W574;Q8N514;Q9NZB3", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0030674 protein-macromolecule adaptor activity;GO:0005509 calcium ion binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0015031 protein transport;GO:0051260 protein homooligomerization;GO:0072659 protein localization to plasma membrane;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9NZN3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15742-1", "uniprot_id": [ { "id": "NAB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15742", "type": "external" } ], "mass": 56594.0, "length": 525, "protein_name": "NGFI-A-binding protein 2", "gene_name": "NAB2", "organism": "Human", "refseq_name": "NGFI-A-binding protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001317234", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317234", "type": "external" } ], "gene_names_uniprotkb": "NAB2; MADER", "gene_names_refseq": "MADER; NAB2", "protein_names_uniprotkb": "NGFI-A-binding protein 2; EGR-1-binding protein 2; Melanoma-associated delayed early response protein; Protein MADER", "protein_names_refseq": "EGR1 binding protein 2; NGFI-A-binding protein 2 isoform 2; melanoma-associated delayed early response protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:4665); (R-HSA-9031628); (R-HSA-9619665)", "pathway_count": 3, "publication_count": 263, "publication_id_list": "10203854;10220111;10381005;10400691;10611221;10611312;10656257;10727776;10734128;10757804;10826704;10856243;10872467;10882540;10984481;11018254;11027551;11115854;11133365;11157804;11280768;11331872;11343657;11356866;11394999;11430795;11430802;11567222;11734543;11755530;11782409;11840323;11956230;12056842;12145339;12198163;12399542;12511643;12782656;12799134;1377233;14512514;14522948;14597720;14664827;14969744;15102911;15150276;15161978;15189448;15356632;15449318;15542842;15610069;15620361;15695336;1570299;15733869;15836632;15880109;15907797;16034366;16136673;16187211;16221685;16260776;16287845;16311519;16319321;16339507;16373334;16407550;16484497;16574654;16732277;16923174;1704008;17081983;17088210;17088211;17088212;17325040;17632064;17699610;17898216;17959798;18056528;18088355;18160048;1833716;18456662;18524893;1861162;18634568;18669648;18803322;19061646;19116276;19143832;19156870;19193899;19194657;19321787;19413330;19651622;19664994;19664995;19690332;19745155;1975954;19922439;19926875;20149798;2017159;20213556;2040600;20506119;2052361;20625412;2072895;20832498;21044070;21057636;2109185;21326363;21406692;21411665;21423190;21423191;21486943;21613327;21621608;21653862;21836637;22053691;22065583;22180461;22302795;22333914;2237820;22492709;22764250;22814607;23186163;23695165;23747866;23874858;24060757;24191038;24227709;24275569;24646194;24675079;25248477;25569790;25576301;25748042;25974668;26018600;26423937;26441514;2676516;26811146;26992070;27041596;27128622;27220739;27288457;27397612;27600516;27859941;27920218;28076410;28275114;28286024;28832583;28852375;28904123;29242379;29351928;29393594;29493099;29557506;29559111;29632046;29748249;29789417;31154438;3127059;31530632;31844290;31848261;32387766;32488085;32938616;32983136;33298915;33592498;33745702;33887215;33912179;33968037;33981976;34509645;35051231;35303277;35580925;36010968;36056239;3672127;38523251;38665916;39534244;40596516;7551568;7592934;7595538;7608156;7624335;7777577;7823924;7857651;7871435;7876254;7923378;7925941;7935840;8090221;8090222;8138712;8248782;8349731;8413279;8483478;8576248;8583621;8619637;8627307;8647822;8649813;8662541;8668170;8756618;8842374;8846918;8918830;9032251;9084409;9126479;9343422;9390517;9418898;9418958;9482253;9622090;9705348;9722618;9748295;9770464;9774344;9808461;9822744;9858769", "class_list": "", "function": "Acts as a transcriptional repressor for zinc finger transcription factors EGR1 and EGR2. Isoform 2 lacks repression ability (By similarity)., [UniProtKB]; Analysis of clinicopathological features and NAB2-STAT6 fusion variants of meningeal solitary fibrous tumor with ectopic salivary gland components in the cerebellopontine angle., [RefSeq, PubMed]; Clinical and molecular implications of NAB2-STAT6 fusion variants in solitary fibrous tumour., [RefSeq, PubMed]; Lipomatous Solitary Fibrous Tumors Harbor Rare NAB2-STAT6 Fusion Variants and Show Up-Regulation of the Gene PPARG, Encoding for a Regulator of Adipocyte Differentiation., [RefSeq, PubMed]; NAB2::STAT6 fusions and genome-wide DNA methylation profiling: Predictors of patient outcomes in meningeal solitary fibrous tumors., [RefSeq, PubMed]; Teratocarcinosarcoma-Like and Adamantinoma-Like Head and Neck Neoplasms Harboring NAB2::STAT6: Unusual Variants of Solitary Fibrous Tumor or Novel Tumor Entities?, [RefSeq, PubMed]; This gene encodes a member of the family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other EGR or NAB proteins through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [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": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RAK3;O76006;Q14797", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0003714 transcription corepressor activity;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0016480 negative regulation of transcription by RNA polymerase III", "synthesized_glycan_count": 0, "hit_score": 26.6, "record_id": "Q15742-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14686-1", "uniprot_id": [ { "id": "NCOA6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14686", "type": "external" } ], "mass": 219145.0, "length": 2063, "protein_name": "Nuclear receptor coactivator 6", "gene_name": "NCOA6", "organism": "Human", "refseq_name": "nuclear receptor coactivator 6 isoform 2", "refseq_ac": [ { "id": "NP_001229468", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229468", "type": "external" } ], "gene_names_uniprotkb": "NCOA6; AIB3; KIAA0181; RAP250; TRBP", "gene_names_refseq": "AIB3; ASC2; NCOA6; NRC; PRIP; RAP250; TRBP", "protein_names_uniprotkb": "Nuclear receptor coactivator 6; ASC-2; Activating signal cointegrator 2; Amplified in breast cancer protein 3; Cancer-amplified transcriptional coactivator ASC-2; NRC RAP250; Nuclear receptor coactivator RAP250; Nuclear receptor-activating protein, 250 kDa; PPAR-interacting protein; PRIP; Peroxisome proliferator-activated receptor-interacting protein; Thyroid hormone receptor-binding protein", "protein_names_refseq": "NRC RAP250; PPAR-interacting protein; activating signal cointegrator-2; amplified in breast cancer protein 3; amplified in breast cancer-3 protein; cancer-amplified transcriptional coactivator ASC-2; nuclear receptor coactivator 6 isoform 2; nuclear receptor coactivator RAP250; nuclear receptor-activating protein, 250 kDa; peroxisome proliferator-activated receptor interacting protein; thyroid hormone receptor binding protein", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930); lung cancer (Disease Ontology:DOID:1324); breast cancer (Disease Ontology:DOID:1612); colon cancer (Disease Ontology:DOID:219); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:23054); (R-HSA-1368108); (R-HSA-1989781); (R-HSA-2151201); (R-HSA-2426168); (R-HSA-381340); (R-HSA-400206); (R-HSA-5617472); (R-HSA-9707564); (R-HSA-9707616); (R-HSA-9772755); (R-HSA-9818564); (R-HSA-9841922); (R-HSA-9931509); (R-HSA-9933387)", "pathway_count": 15, "publication_count": 397, "publication_id_list": "10075656;10198158;10381560;10400691;10412986;10425206;10494028;10529898;10558993;10567404;10643692;10681503;10713165;10759542;10777502;10777541;10823961;10835357;10866662;10882139;11018023;11027271;11095972;11162494;11226238;11237011;11241162;11267664;11301320;11330046;11340167;11387216;11414710;11443112;11517327;11773444;11779144;11809803;11872672;12039952;12083769;12118000;12130498;12130638;12177166;12213831;12215545;12356737;12374852;12377782;12393701;12406875;12482968;12482972;12505311;12511571;12563009;12582161;12670868;12738229;12745923;12764144;12829629;12969439;1310260;1377680;14636557;14672706;14980219;14992727;15067378;15130092;15175654;15199122;15273253;15302935;15500444;15560782;15635043;15665827;15684387;15761026;15850785;15867264;15919796;16079151;16079181;16079853;16227571;16239140;16380219;16476485;16503871;16549775;16568091;16788062;16829959;16857194;16878130;16890199;16892064;16908542;16911507;16959974;16972786;17007889;17011499;17021013;17031457;17185360;17264172;17306620;17355966;17428788;17437997;17449569;17500065;1756725;17612494;17660710;17671196;17713478;17715127;17761849;17761950;17851529;17923681;17925232;17925399;17980149;17998332;18006707;18037887;18215119;18288277;18292238;18343819;18452278;18540824;18559965;18587630;18598942;18654640;18680753;18682402;18719978;18726356;18781158;18829457;18829459;18838386;18838538;18848529;18931025;19001277;19043829;19088433;19103755;19115207;19115252;19124460;19172745;19187761;19232136;19289416;19356719;19417006;19556245;1968462;19690164;19710360;19710929;1971514;19747919;1975088;19782034;19854132;19934321;19951946;19968714;20018852;20068231;20085832;20101261;20110263;20138239;20450493;20575550;20581824;20716525;20719759;20817722;20929863;20937905;20961854;21106533;21124902;21131905;21135039;21220120;21479263;21628546;21889235;22266653;22327296;22381047;22427940;22569366;22634312;22652693;22665483;22705304;22879880;23186163;23219899;23239344;23301498;23508102;23534758;23630040;23995757;24129315;24174538;24196956;24244196;24312487;24368734;24586203;24680668;24715725;25101834;25135475;2539258;25561738;25576301;25593305;2570724;25913784;26324722;26768311;26886794;26960196;26992070;27071062;2713875;27563068;27698142;27754849;27760318;27846572;27862975;27920218;28111073;28182322;28218747;28228285;28398509;28604694;28657654;28698372;28832583;28904123;29138278;29237092;29242379;29351928;29393594;29437277;29508533;29557506;29897600;2991279;29937342;30059200;30315122;30379171;30620550;31092671;31217245;31400120;31485071;31492838;31544921;31748741;31844290;32157095;32354867;32357974;32502341;32574038;32695117;32938616;32938750;32983136;33091337;33214551;33298915;33329381;3345742;33537174;33592498;33657400;33968037;33981976;34012049;34019948;34171305;3427020;34405274;3475708;34846842;34933446;35033534;35051231;35132862;35138101;35190547;35254053;35384116;35439434;35513511;35580925;35705054;36010968;36086920;36241641;37217939;37340703;37541260;38195836;38253038;38665916;38838015;39531497;39534244;40307207;6094553;7488013;7501971;7567999;7592729;7629110;7685352;7732023;7799916;7831296;7892212;7906964;7908827;7909540;7981125;8020941;8060328;8108407;8156598;8325954;8333869;8386511;8402897;8415693;8521497;8521498;8618898;8619637;8622974;8626466;8626488;8643605;8647822;8663599;8674428;8706692;8759021;8770873;8798690;8887638;8970730;8976377;9012850;9062340;9065481;9079689;9099716;9144434;9171241;9178750;9218805;9272954;9286700;9454824;9482740;9604010;9634533;9744270;9748239;9748295;9836620", "class_list": "", "function": "Multiomics analyses and machine learning of nuclear receptor coactivator 6 reveal its essential role in hepatocellular carcinoma., [RefSeq, PubMed]; Nuclear receptor coactivator 6 is a critical regulator of NLRP3 inflammasome activation and gouty arthritis., [RefSeq, PubMed]; Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Coactivates expression in an agonist- and AF2-dependent manner. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ERs), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Probably functions as a general coactivator, rather than just a nuclear receptor coactivator. May also be involved in the coactivation of the NF-kappa-B pathway. May coactivate expression via a remodeling of chromatin and its interaction with histone acetyltransferase proteins., [UniProtKB]; Nuclear receptor coactivator-6 is essential for the morphological change of human uterine stromal cell decidualization via regulating actin fiber reorganization., [RefSeq, PubMed]; The protein encoded by this gene is a transcriptional coactivator that can interact with nuclear hormone receptors to enhance their transcriptional activator functions. This protein has been shown to be involved in the hormone-dependent coactivation of several receptors, including prostanoid, retinoid, vitamin D3, thyroid hormone, and steroid receptors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 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": 32, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 32, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 32, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 87, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 33, "binding_glycan_count": 0, "secondary_ac_list": "A6NLF1;B2RMN5;E1P5P7;Q9NTZ9;Q9UH74;Q9UK86", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0019899 enzyme binding;GO:0030331 nuclear estrogen receptor binding;GO:0046966 nuclear thyroid hormone receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0035097 histone methyltransferase complex", "go_biological_process": "GO:0007507 heart development;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006974 DNA damage response;GO:0007420 brain development;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 43.2, "record_id": "Q14686-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZW7-1", "uniprot_id": [ { "id": "TSG10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZW7", "type": "external" } ], "mass": 81421.0, "length": 698, "protein_name": "Testis-specific gene 10 protein", "gene_name": "TSGA10", "organism": "Human", "refseq_name": "testis-specific gene 10 protein isoform 1", "refseq_ac": [ { "id": "NP_079520", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079520", "type": "external" } ], "gene_names_uniprotkb": "TSGA10; CEP4L", "gene_names_refseq": "CEP4L; CT79; SPGF26; TSGA10", "protein_names_uniprotkb": "Testis-specific gene 10 protein; Testis development protein NYD-SP7", "protein_names_refseq": "cancer/testis antigen 79; testis development protein NYD-SP7; testis-specific 10 protein; testis-specific gene 10 protein isoform 1; testis-specific gene 10 protein", "tax_id": 9606, "disease": "spermatogenic failure 26 (Disease Ontology:DOID:0111924)", "pathway": " (hsa:80705)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11179690;11237011;14585816;15107545;16406020;18000009;18669648;20797700;28411811;28904123;28905369;29557506;31844290;32086108;32285443;34232471;34409526;35051231;39894887", "class_list": "", "function": "Novel mutations in PMFBP1, TSGA10 and SUN5: Expanding the spectrum of mutations that may cause acephalic spermatozoa., [RefSeq, PubMed]; Over-expressed in 4 of 20 hepatocellular carcinomas (HCC), 1 of 20 colon cancers, 7 of 20 ovarian cancers, 3 of 20 prostate cancers, 1 of 21 malignant melanomas, and 8 of 21 bladder cancers, [RefSeq, PubMed]; Pathogenesis of acephalic spermatozoa syndrome caused by splicing mutation and de novo deletion in TSGA10., [RefSeq, PubMed]; Plays a role in spermatogenesis (PubMed:28905369). When overexpressed, prevents nuclear localization of HIF1A (By similarity)., [UniProtKB, UniProtKB, PubMed]; TSGA10 as a Potential Key Factor in the Process of Spermatid Differentiation/Maturation: Deciphering Its Association with Autophagy Pathway., [RefSeq, PubMed]; TSGA10 could influence the function of antigen presenting cells via its interaction with cytoskeletal proteins such as vimentin, [RefSeq, PubMed]; TSGA10 is target of immune reactions in Autoimmune polyendocrine syndrome type 1 (APS1)., [RefSeq, PubMed]; TSGA10 overexpression could decrease the metastatic and metabolic activity of cancer cells through its inhibitory effect on HIF-1 activity. Therefore, TSGA10 could be considered in the research for therapeutic candidates in cancer., [RefSeq, PubMed]; The RT-PCR of TSGA10 expression may help in detection of residual clonal cells leading to early diagnosis and better prognostic qualification of the acute lymphoblastic leukemia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z925;D3DVH7;Q8NEP0;Q9BWX0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031514 motile cilium;GO:0043005 neuron projection;GO:0005814 centriole;GO:0035686 sperm fibrous sheath", "go_biological_process": "GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q9BZW7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRR5-1", "uniprot_id": [ { "id": "UBQL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRR5", "type": "external" } ], "mass": 63853.0, "length": 601, "protein_name": "Ubiquilin-4", "gene_name": "UBQLN4", "organism": "Human", "refseq_name": "ubiquilin-4 isoform 2", "refseq_ac": [ { "id": "NP_001291271", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291271", "type": "external" } ], "gene_names_uniprotkb": "UBQLN4; C1orf6; CIP75; UBIN", "gene_names_refseq": "A1Up; A1U; C1orf6; CIP75; UBIN; UBQLN4", "protein_names_uniprotkb": "Ubiquilin-4; A1Up; Ataxin-1 interacting ubiquitin-like protein; Ataxin-1 ubiquitin-like-interacting protein A1U; CIP75; Connexin43-interacting protein of 75 kDa", "protein_names_refseq": "Cx43-interacting protein of 75 kDa; ataxin-1 interacting ubiquitin-like protein; ataxin-1 ubiquitin-like interacting protein; ataxin-1 ubiquitin-like-interacting protein A1U; connexin43-interacting protein of 75 kDa; ubiquilin-4 isoform 2", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 1 (Disease Ontology:DOID:0060193); 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:56893)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "10575211;11001934;15280365;17525332;18307982;18446792;19664995;20068231;20702650;22424782;23186163;23459205;23481700;24674348;24715725;25418920;25645385;26154972;26375851;26758079;27113755;27846572;27893789;28228285;28463112;28467828;28514659;28832583;28904123;29242379;29351928;29393594;29557506;29632046;29632711;29666234;29786170;29789417;30315122;30429286;30524438;30612738;31844290;32157095;32350084;32387766;32938616;33141586;33298915;33592498;33936100;33968037;34019948;34245648;34357683;34509645;34932366;35051231;35494241;36010968;36284347;36291176;37702916;38665916;38969831", "class_list": "", "function": "Genomic Amplification of UBQLN4 Is a Prognostic and Treatment Resistance Factor. Publication Status: Online-Only, [RefSeq, PubMed]; Regulator of protein degradation that mediates the proteasomal targeting of misfolded, mislocalized or accumulated proteins (PubMed:15280365, PubMed:27113755, PubMed:29666234, PubMed:30612738). Acts by binding polyubiquitin chains of target proteins via its UBA domain and by interacting with subunits of the proteasome via its ubiquitin-like domain (PubMed:15280365, PubMed:27113755, PubMed:30612738). Key regulator of DNA repair that represses homologous recombination repair: in response to DNA damage, recruited to sites of DNA damage following phosphorylation by ATM and acts by binding and removing ubiquitinated MRE11 from damaged chromatin, leading to MRE11 degradation by the proteasome (PubMed:30612738). MRE11 degradation prevents homologous recombination repair, redirecting double-strand break repair toward non-homologous end joining (NHEJ) (PubMed:30612738). Specifically recognizes and binds mislocalized transmembrane-containing proteins and targets them to proteasomal degradation (PubMed:27113755). Collaborates with DESI1/POST in the export of ubiquitinated proteins from the nucleus to the cytoplasm (PubMed:29666234). Also plays a role in the regulation of the proteasomal degradation of non-ubiquitinated GJA1 (By similarity). Acts as an adapter protein that recruits UBQLN1 to the autophagy machinery (PubMed:23459205). Mediates the association of UBQLN1 with autophagosomes and the autophagy-related protein LC3 (MAP1LC3A/B/C) and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (PubMed:23459205)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; UBQLN4 promotes the proliferation and invasion of non-small cell lung cancer cell by regulating PI3K/AKT pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquilin-4 induces immune escape in gastric cancer by activating the notch signaling pathway., [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": 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": 2, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A6ND44;B2RAY7;Q5VYA0;Q5VYA1;Q9BR98;Q9UHX4", "ec_number_list": [], "go_molecular_function": "GO:0036435 K48-linked polyubiquitin modification-dependent protein binding;GO:0031593 polyubiquitin modification-dependent protein binding;GO:0042802 identical protein binding", "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:1901097 negative regulation of autophagosome maturation;GO:2000042 negative regulation of double-strand break repair via homologous recombination;GO:0006281 DNA repair;GO:0006974 DNA damage response;GO:0006914 autophagy", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q9NRR5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15973-3", "uniprot_id": [ { "id": "ZN124_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15973", "type": "external" } ], "mass": 40217.0, "length": 351, "protein_name": "Zinc finger protein 124", "gene_name": "ZNF124", "organism": "Human", "refseq_name": "zinc finger protein 124 isoform 2", "refseq_ac": [ { "id": "NP_001230669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230669", "type": "external" } ], "gene_names_uniprotkb": "ZNF124", "gene_names_refseq": "HZF-16; HZF16; ZK7; ZNF124", "protein_names_uniprotkb": "Zinc finger protein 124; Zinc finger protein HZF-16", "protein_names_refseq": "zinc finger protein 124 isoform 2; zinc finger protein HZF-16", "tax_id": 9606, "disease": "", "pathway": " (hsa:7678); (R-HSA-212436)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;23481700;25418920;26929215;26992070;29545821;31217245;31844290;32983136;7916577;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; RNA-Seq evidence for lung tissue-specific monoallelic expression of ZNF124, located 363 kb upstream of the GCSAML somatic (secondary), imprinted differentially methylated region (iDMR). The ZNF124 locus has no overlapping hemimethylated CGIs in normal tissues, including lung tissue The GCSAML iDMR might regulate the lung tissue-specific, monoallelic expression of ZNF124. In the placenta, ZNF124 is biallelically expressed. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein with an amino-terminal KRAB-A box and multiple repeated Kruppel-type (C2H2) zinc finger motifs at its carboxy terminus. The encoded protein may function as a transcription factor. Expression of this gene is increased after vascular endothelial growth factor (VEGF) stimulation in human leukemia cell lines and results in inhibition of apoptotic cell death induced by irradiation or exposure to etoposide. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KNP3;J3KSE1;Q15974;Q4VAJ7;Q5T2V4", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_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": 2.3, "record_id": "Q15973-3", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99417-1", "uniprot_id": [ { "id": "MYCBP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99417", "type": "external" } ], "mass": 11967.0, "length": 103, "protein_name": "c-Myc-binding protein", "gene_name": "MYCBP", "organism": "Human", "refseq_name": "C-Myc-binding protein", "refseq_ac": [ { "id": "NP_036465", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036465", "type": "external" } ], "gene_names_uniprotkb": "MYCBP; AMY1", "gene_names_refseq": "AMY-1; MYCBP", "protein_names_uniprotkb": "c-Myc-binding protein; AMY-1; Associate of Myc 1", "protein_names_refseq": "C-Myc-binding protein; associate of myc-1; c-myc binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:26292)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;11483602;12151104;12223483;12665801;19054851;24366607;24715725;25576301;26992070;27846572;28510447;31844290;32157095;32350084;32357974;32387766;32938616;33141586;33298915;33392160;33537174;33592498;33691108;33968037;33981976;34087483;34171305;34185709;34464659;34509645;34895159;34932366;35051231;35251023;35580925;36010968;36215666;36241641;37938771;38570856;40215271;9797456", "class_list": "", "function": "AMY-1 was localized in the mitochondria of HeLa and sperm in association with AKAP149 and S-AKAP84, respectively. These results suggest that AMY-1 plays a role in spermatogenesis, [RefSeq, PubMed]; Circ_0002669 promotes osteosarcoma tumorigenesis through directly binding to MYCBP and sponging miR-889-3p. Publication Status: Online-Only, [RefSeq, PubMed]; Identified a novel AMY-1-binding protein, AAT-1, and determied its expression profiles, genes, and cellular localization; results showed that AAT-1 was specifically expressed in the testis throughout spermatogenesis and was also present in mature sperm, [RefSeq, PubMed]; May control the transcriptional activity of MYC. Stimulates the activation of E box-dependent transcription by MYC., [UniProtKB]; MiR-26b-5p inhibits cell proliferation and EMT by targeting MYCBP in triple-negative breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; TAZ is indispensable for c-MYC-induced hepatocarcinogenesis. Erratum:[J Hepatol. 2022 Mar;76(3):755-756. doi: 10.1016/j.jhep.2021.12.006. PMID: 34965902], [RefSeq, PubMed]; The protein encoded by this gene binds to the N-terminus of the oncogenic protein C-MYC, enhancing the ability of C-MYC to activate E box-dependent transcription. The encoded protein is normally found in the cytoplasm, but it translocates to the nucleus during S phase of the cell cycle and associates with C-MYC. This protein may be involved in spermatogenesis. This gene can be silenced by microRNA-22. Two transcript variants, one protein-coding and the other probably not protein-coding, 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2R4N0;Q5TA64;Q96HE2", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007283 spermatogenesis;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q99417-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUC1-1", "uniprot_id": [ { "id": "KR111_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUC1", "type": "external" } ], "mass": 17085.0, "length": 163, "protein_name": "Keratin-associated protein 11-1", "gene_name": "KRTAP11-1", "organism": "Human", "refseq_name": "keratin-associated protein 11-1", "refseq_ac": [ { "id": "NP_787054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_787054", "type": "external" } ], "gene_names_uniprotkb": "KRTAP11-1; KAP11.1; KRTAP11.1", "gene_names_refseq": "HACL-1; KAP11.1; KRTAP11-1", "protein_names_uniprotkb": "Keratin-associated protein 11-1; High sulfur keratin-associated protein 11.1", "protein_names_refseq": "high sulfur keratin-associated protein 11.1; keratin-associated protein 11-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:337880); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "12359730;15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;29391282;9468612", "class_list": "", "function": "Expressed and purified are a high sulfur KAP (KAP11.1) and a high glycine-tyrosine KAP (KAP6.1)., [RefSeq, PubMed]; 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A1L4I8", "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": 1.3, "record_id": "Q8IUC1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y333-1", "uniprot_id": [ { "id": "LSM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y333", "type": "external" } ], "mass": 10835.0, "length": 95, "protein_name": "U6 snRNA-associated Sm-like protein LSm2", "gene_name": "LSM2", "organism": "Human", "refseq_name": "U6 snRNA-associated Sm-like protein LSm2", "refseq_ac": [ { "id": "NP_067000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067000", "type": "external" } ], "gene_names_uniprotkb": "LSM2; C6orf28; G7B", "gene_names_refseq": "C6orf28; G7B; LSM2; YBL026W; snRNP", "protein_names_uniprotkb": "U6 snRNA-associated Sm-like protein LSm2; Protein G7b; Small nuclear ribonuclear protein D homolog; snRNP core Sm-like protein Sm-x5", "protein_names_refseq": "LSM2 U6 small nuclear RNA and mRNA degradation associated; LSM2 homolog, U6 small nuclear RNA associated; U6 snRNA-associated Sm-like protein LSm2; protein G7b; small nuclear ribonuclear protein D homolog; snRNP core Sm-like protein Sm-x5", "tax_id": 9606, "disease": "", "pathway": " (hsa:57819); (R-HSA-430039); (R-HSA-72163)", "pathway_count": 3, "publication_count": 130, "publication_id_list": "10523320;10882114;10931946;11014198;11101529;11233976;11283721;11991638;12176931;12218187;12411573;12414731;12417715;12477934;12486012;12515382;12923261;14625303;14656967;14713954;14749774;15085179;15231747;15475613;15711010;16051491;16141059;16246173;16299471;16314458;16809785;17095540;17245413;17332742;17525332;17606899;18039849;18322460;18593880;19061636;19103666;19165350;19239894;19279404;19536130;20423332;20980672;21536652;2176635;22110043;22121020;22365833;22959432;22961380;23222130;23236153;23345524;24196718;24304693;24448447;24737827;24914973;25555158;25576301;2558966;26375851;26385511;26420826;26912367;26969736;27377154;27459055;27683217;28062851;28076346;28228285;28411811;28502770;28514659;28781166;28832583;29242379;29301961;29360106;29361316;2963332;30315122;30315277;30705154;30728453;30765414;30975767;31217245;31409651;31844290;32161166;32179686;32329775;32494006;32938616;33214551;33243851;33298915;33446560;33592498;33912179;33968037;34019948;34171305;34301950;34822310;35051231;35251023;35385551;35580925;36284347;3757028;37612479;38253038;40596516;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Plays a role in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). The heptameric LSM2-8 complex binds specifically to the 3'-terminal U-tract of U6 snRNA (PubMed:10523320)., [UniProtKB, PubMed, PubMed]; The mechanism of LSM2 in the progression of live hepatocellular carcinoma was analyzed based on bioinformatics. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 19. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6FGG1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0031267 small GTPase binding;GO:0017070 U6 snRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000932 P-body", "go_biological_process": "GO:0000290 deadenylation-dependent decapping of nuclear-transcribed mRNA;GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0006402 mRNA catabolic process;GO:0000387 spliceosomal snRNP assembly;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q9Y333-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYP9-1", "uniprot_id": [ { "id": "MS18A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYP9", "type": "external" } ], "mass": 25863.0, "length": 233, "protein_name": "Protein Mis18-alpha", "gene_name": "MIS18A", "organism": "Human", "refseq_name": "protein Mis18-alpha", "refseq_ac": [ { "id": "NP_061817", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061817", "type": "external" } ], "gene_names_uniprotkb": "MIS18A; C21orf45; C21orf46; FASP1", "gene_names_refseq": "B28; C21orf45; C21orf46; FASP1; MIS18A; MIS18alpha; hMis18alpha", "protein_names_uniprotkb": "Protein Mis18-alpha; FAPP1-associated protein 1", "protein_names_refseq": "FAPP1-associated protein 1; MIS18 kinetochore protein homolog A; protein Mis18-alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:54069); (R-HSA-606279)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "10773462;15369671;15881666;16303743;16622420;17199038;17339379;18669648;19398759;19410544;19410545;20068231;20080577;20566683;21768289;22424782;22544926;22898188;23186163;23301498;23481700;24715725;25505266;25576301;25645385;26154972;26768311;26921242;26992070;27600516;27920218;28063628;28649982;28832583;28904123;29242379;29393594;29493099;29632046;29786170;30524438;30779550;31154438;31492838;31530632;31844290;31998317;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33645631;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;35051231;35318648;36010968;36215666;36241641", "class_list": "", "function": "It is suggested that pp5644 physically bind to FASP1, [RefSeq, PubMed]; Nuclear translocation of ATG5 induces DNA mismatch repair deficiency (MMR-D)/microsatellite instability (MSI) via interacting with Mis18alpha in colorectal cancer., [RefSeq, PubMed]; Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis., [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": 4, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 4, "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": "B2R562;Q542Z0", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000775 chromosome, centromeric region;GO:0000785 chromatin;GO:0098654 CENP-A recruiting complex", "go_biological_process": "GO:0051301 cell division;GO:0034080 CENP-A containing chromatin assembly;GO:0140462 pericentric heterochromatin organization", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9NYP9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A7MCY6-1", "uniprot_id": [ { "id": "TBKB1_HUMAN", "url": "https://www.uniprot.org/uniprot/A7MCY6", "type": "external" } ], "mass": 67702.0, "length": 615, "protein_name": "TANK-binding kinase 1-binding protein 1", "gene_name": "TBKBP1", "organism": "Human", "refseq_name": "TANK-binding kinase 1-binding protein 1", "refseq_ac": [ { "id": "NP_055541", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055541", "type": "external" } ], "gene_names_uniprotkb": "TBKBP1; KIAA0775; SINTBAD", "gene_names_refseq": "ProSAPiP2; SINTBAD; TBKBP1", "protein_names_uniprotkb": "TANK-binding kinase 1-binding protein 1; TBK1-binding protein 1", "protein_names_refseq": "TANK-binding kinase 1-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9755)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11237011;14743216;17568778;19369195;19413330;21931555;21931631;23186163;24275569;26992070;27980081;30315122;30429286;31092671;31217245;31523044;31792381;32157095;32357974;32387766;32897882;32938616;32983136;33968037;34185709;34509645;35051231;35545683;35580925;36010968;36241641", "class_list": "", "function": "A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility. Erratum:[J Neurol. 2022 Aug;269(8):4523-4524. doi: 10.1007/s00415-022-11216-6. PMID: 35751689], [RefSeq, PubMed]; Adapter protein which constitutively binds TBK1 and IKBKE playing a role in antiviral innate immunity., [UniProtKB, PubMed]; Analysis of 47 Non-MHC Ankylosing Spondylitis Susceptibility Loci Regarding Associated Variants across Whites and Han Chinese., [RefSeq, PubMed]; Results suggest that efficient signal transduction upon viral infection requires SINTBAD, TANK and NAP1 because they link TBK1 and IKKi to virus-activated signalling cascades, [RefSeq, PubMed]; TBKBP1 is an adaptor protein that binds to TBK1 (MIM 604834) and is part of the interaction network in the TNF (MIM 191160)/NFKB (see MIM 164011) pathway (Bouwmeester et al., 2004 [PubMed 14743216]).[supplied by OMIM, Mar 2008]., [RefSeq]; The TBK1-TBKBP1 axis facilitates tumour-mediated immunosuppression., [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": 9, "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": "B2RZG6;O94873;Q14DW3", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0051607 defense response to virus;GO:0060337 type I interferon-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "A7MCY6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQL9-1", "uniprot_id": [ { "id": "DMRT3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQL9", "type": "external" } ], "mass": 51199.0, "length": 472, "protein_name": "Doublesex- and mab-3-related transcription factor 3", "gene_name": "DMRT3", "organism": "Human", "refseq_name": "doublesex- and mab-3-related transcription factor 3", "refseq_ac": [ { "id": "NP_067063", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067063", "type": "external" } ], "gene_names_uniprotkb": "DMRT3; DMRTA3", "gene_names_refseq": "DMRT3; DMRTA3", "protein_names_uniprotkb": "Doublesex- and mab-3-related transcription factor 3", "protein_names_refseq": "DMRT-like family A3; doublesex- and mab-3-related transcription factor 3; testis-specific protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:58524)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10729223;11237011;11863363;18669648;20596660;24715725;29305858;30379171;31154438;32387766;32553473;32983136;33592498;34439758;35051231", "class_list": "", "function": "Chromosome 9p loss is the hallmark of squamous cell carcinoma, and DMRT1, DMRT3 and DOCK8 genes at 9p24.3 might be of interest for the study of the pathophysiology of SCC as potential targets for therapeutic measures., [RefSeq, PubMed]; Genetic analysis of a Taiwanese family identifies a DMRT3-OAS3 interaction that is involved in human sexual differentiation through the regulation of ESR1 expression., [RefSeq, PubMed]; Probable transcription factor that plays a role in configuring the spinal circuits controlling stride in vertebrates. Involved in neuronal specification within specific subdivision of spinal cord neurons and in the development of a coordinated locomotor network controlling limb movements. May regulate transcription during sexual development (By similarity)., [UniProtKB]; Thus, the deletion of the cis-regulatory element for DMRT3 in humans may cause impaired development of the forebrain and gait abnormalities, resulting in spastic CP. In conclusion, this study provides new mechanistic insights into the genetic basis of CP., [RefSeq, PubMed]; Transcriptome Analysis Identifies Doublesex and Mab-3 Related Transcription Factor (DMRT3) in Nasal Polyp Epithelial Cells of Patients Suffering from Non-Steroidal Anti-Inflammatory Drug-Exacerbated Respiratory Disease (AERD). 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": 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": "Q7LA03;Q7LCH8;Q96SC7;Q9NRQ9", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008344 adult locomotory behavior;GO:0030154 cell differentiation;GO:0007548 sex differentiation", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9NQL9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96I34-1", "uniprot_id": [ { "id": "PP16A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96I34", "type": "external" } ], "mass": 57811.0, "length": 528, "protein_name": "Protein phosphatase 1 regulatory subunit 16A", "gene_name": "PPP1R16A", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory subunit 16A", "refseq_ac": [ { "id": "NP_001316371", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316371", "type": "external" } ], "gene_names_uniprotkb": "PPP1R16A; MYPT3", "gene_names_refseq": "MYPT3; PPP1R16A", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory subunit 16A; Myosin phosphatase-targeting subunit 3", "protein_names_refseq": "myosin phosphatase-targeting subunit 3; protein phosphatase 1 regulatory subunit 16A; protein phosphatase 1, regulatory (inhibitor) subunit 16A", "tax_id": 9606, "disease": "", "pathway": " (hsa:84988)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;16920702;21509594;22544926;23186163;29351928;32897882;35051231;35494241", "class_list": "", "function": "Analysis of a novel mechanism for the phosphorylation of MYPT3 by PKA and activation of the catalytic activity through direct interaction of a central region of MYPT3 with its N-terminal region, [RefSeq, PubMed]; Inhibits protein phosphatase 1 activity toward phosphorylase, myosin light chain and myosin substrates., [UniProtKB]; Myosin light chain kinase and phosphatase (MLCP) complexes control the phosphorylation states of regulatory myosin light chains, which is crucial for muscle and intracellular movement. MLCPs typically contain a catalytic protein phosphatase 1 (PP1c) subunit, a myosin phosphatase targeting (MYPT) subunit, and another smaller subunit. The protein encoded by this gene represents an MYPT subunit, which is responsible for directing PP1c to its intended targets. However, while the phosphorylation of other MYPT members results in PP1c inactivation, phosphorylation of the encoded protein by protein kinase A results in PP1c activation. [provided by RefSeq, Jan 2020]., [RefSeq]; PPP1R16A gene expression is decreased in follicular variant of papillary thyroid 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 12, "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": "D3DWM5", "ec_number_list": [], "go_molecular_function": "GO:0017020 myosin phosphatase regulator activity;GO:0004857 enzyme inhibitor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q96I34-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99497-1", "uniprot_id": [ { "id": "PARK7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99497", "type": "external" } ], "mass": 19891.0, "length": 189, "protein_name": "Parkinson disease protein 7", "gene_name": "PARK7", "organism": "Human", "refseq_name": "Parkinson disease protein 7", "refseq_ac": [ { "id": "NP_001116849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116849", "type": "external" } ], "gene_names_uniprotkb": "PARK7", "gene_names_refseq": "DJ-1; DJ1; GATD2; HEL-S-67p; PARK7", "protein_names_uniprotkb": "Parkinson disease protein 7; 3.1.2.-; 3.5.1.-; 3.5.1.124; DJ-1; Maillard deglycase; Oncogene DJ1; Parkinsonism-associated deglycase; Protein DJ-1; Protein/nucleic acid deglycase DJ-1", "protein_names_refseq": "Parkinson disease (autosomal recessive, early onset) 7; Parkinson disease protein 7; epididymis secretory sperm binding protein Li 67p; maillard deglycase; oncogene DJ1; parkinson protein 7; protein DJ-1; protein deglycase DJ-1; protein/nucleic acid deglycase DJ-1", "tax_id": 9606, "disease": "Parkinson's disease 7 (Disease Ontology:DOID:0060370); late onset Parkinson's disease (Disease Ontology:DOID:0060892); early-onset Parkinson's disease (Disease Ontology:DOID:0060894); Parkinsonism (Disease Ontology:DOID:0080855); Parkinson's disease (Disease Ontology:DOID:14330); middle cerebral artery infarction (Disease Ontology:DOID:3525); cerebral infarction (Disease Ontology:DOID:3526); retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:11315); (R-HSA-3899300); (R-HSA-9613829); (R-HSA-9615710); (R-HSA-9646399)", "pathway_count": 5, "publication_count": 194, "publication_id_list": "10089880;10491388;11082038;11223268;11237011;11477070;11842083;12024216;12150977;12446870;12529333;12612053;12679040;12718889;12761214;12796482;12851414;12855764;12914946;12939276;12953260;14579415;14607841;14662519;14675537;14705119;14705128;14713311;14749723;14872018;15181200;15254937;15365989;15502874;15592455;15766567;15944288;15958389;15976810;16098147;16240358;16390825;16632486;16757475;17015834;17079232;17081986;17298944;17369852;17535915;17785525;17803295;17846173;17942393;18082607;18211901;18339323;18488044;18626009;18644871;18711745;18785233;19229105;19240082;19596686;19615980;19995069;20068231;20098713;20112406;20176810;20186336;20304780;20676127;20797626;21097510;21238931;21282471;21338522;21527249;2204156;22467880;22523093;22611253;22713328;23404503;23515720;23576270;23673342;23792957;23847046;24126823;24200693;25114211;25218447;25416785;25469497;25505266;25576301;25800734;25802875;25892735;25961502;26118642;26154972;26972524;26992070;26995087;27452731;27600516;27846572;27903648;27920218;2799391;28013050;28063628;28228285;28467828;28514659;28596309;28832583;28904123;28993701;29242379;29317506;29331515;29393594;29493099;29508533;29557506;29626215;29632046;29632711;29769354;29786170;30150385;30192525;30573663;30779550;30894531;30928208;31217245;31530632;31536960;31611695;31653696;31844290;32157095;32161166;32265295;32350084;32387766;32488085;32502341;32858971;32897882;32938616;32983136;33141586;33392160;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34211107;34229054;34357683;34932366;35138101;35154160;35251023;35318648;35580925;36010968;36241641;36284347;37674036;37749450;38007588;38125697;38189631;38460098;38665916;39842141;40596516;8662539;9038169;9070310;9151685;9864362", "class_list": "", "function": "A Complex Interplay of DJ-1, LRRK2, and Nrf2 in the Regulation of Mitochondrial Function in Cypermethrin-Induced Parkinsonism., [RefSeq, PubMed]; DJ-1 protects cell death from a mitochondrial oxidative stress due to GBA1 deficiency., [RefSeq, PubMed]; DJ-1: A Potential Biomarker Related to Prognosis, Chemoresistance, and Expression of Microenvironmental Chemokine in HR-Positive Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Multifunctional protein with controversial molecular function which plays an important role in cell protection against oxidative stress and cell death acting as oxidative stress sensor and redox-sensitive chaperone and protease (PubMed:12796482, PubMed:17015834, PubMed:18711745, PubMed:19229105, PubMed:20304780, PubMed:25416785, PubMed:26995087, PubMed:28993701). It is involved in neuroprotective mechanisms like the stabilization of NFE2L2 and PINK1 proteins, male fertility as a positive regulator of androgen signaling pathway as well as cell growth and transformation through, for instance, the modulation of NF-kappa-B signaling pathway (PubMed:12612053, PubMed:14749723, PubMed:15502874, PubMed:17015834, PubMed:18711745, PubMed:21097510). Has been described as a protein and nucleotide deglycase that catalyzes the deglycation of the Maillard adducts formed between amino groups of proteins or nucleotides and reactive carbonyl groups of glyoxals (PubMed:25416785, PubMed:28596309). But this function is rebuted by other works (PubMed:27903648, PubMed:31653696). As a protein deglycase, repairs methylglyoxal- and glyoxal-glycated proteins, and releases repaired proteins and lactate or glycolate, respectively. Deglycates cysteine, arginine and lysine residues in proteins, and thus reactivates these proteins by reversing glycation by glyoxals. Acts on early glycation intermediates (hemithioacetals and aminocarbinols), preventing the formation of advanced glycation endproducts (AGE) that cause irreversible damage (PubMed:25416785, PubMed:26995087, PubMed:28013050). Also functions as a nucleotide deglycase able to repair glycated guanine in the free nucleotide pool (GTP, GDP, GMP, dGTP) and in DNA and RNA. Is thus involved in a major nucleotide repair system named guanine glycation repair (GG repair), dedicated to reversing methylglyoxal and glyoxal damage via nucleotide sanitization and direct nucleic acid repair (PubMed:28596309). Protects histones from adduction by methylglyoxal, controls the levels of methylglyoxal-derived argininine modifications on chromatin (PubMed:30150385). Able to remove the glycations and restore histone 3, histone glycation disrupts both local and global chromatin architecture by altering histone-DNA interactions as well as histone acetylation and ubiquitination levels (PubMed:30150385, PubMed:30894531). Displays a very low glyoxalase activity that may reflect its deglycase activity (PubMed:22523093, PubMed:28993701, PubMed:31653696). Eliminates hydrogen peroxide and protects cells against hydrogen peroxide-induced cell death (PubMed:16390825). Required for correct mitochondrial morphology and function as well as for autophagy of dysfunctional mitochondria (PubMed:16632486, PubMed:19229105). Plays a role in regulating expression or stability of the mitochondrial uncoupling proteins SLC25A14 and SLC25A27 in dopaminergic neurons of the substantia nigra pars compacta and attenuates the oxidative stress induced by calcium entry into the neurons via L-type channels during pacemaking (PubMed:18711745). Regulates astrocyte inflammatory responses, may modulate lipid rafts-dependent endocytosis in astrocytes and neuronal cells (PubMed:23847046). In pancreatic islets, involved in the maintenance of mitochondrial reactive oxygen species (ROS) levels and glucose homeostasis in an age- and diet dependent manner. Protects pancreatic beta cells from cell death induced by inflammatory and cytotoxic setting (By similarity). Binds to a number of mRNAs containing multiple copies of GG or CC motifs and partially inhibits their translation but dissociates following oxidative stress (PubMed:18626009). Metal-binding protein able to bind copper as well as toxic mercury ions, enhances the cell protection mechanism against induced metal toxicity (PubMed:23792957). In macrophages, interacts with the NADPH oxidase subunit NCF1 to direct NADPH oxidase-dependent ROS production, and protects against sepsis (By similarity)., [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]; The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons against oxidative stress and cell death. Defects in this gene are the cause of autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; TrkB inhibition of DJ-1 degradation promotes the growth and maintenance of cancer stem cell characteristics in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Uncovering potential diagnostic and pathophysiological roles of alpha-synuclein and DJ-1 in melanoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "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": "B2R4Z1;O14805;Q6DR95;Q7LFU2", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "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": "2.3.2.23", "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": "3.1.2.-", "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" } ], "go_molecular_function": "GO:1990422 glyoxalase (glycolic acid-forming) activity;GO:0003713 transcription coactivator activity;GO:0003729 mRNA binding;GO:0005102 signaling receptor binding;GO:0008047 enzyme activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "GO:1903427 negative regulation of reactive oxygen species biosynthetic process;GO:1903376 regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway;GO:0061727 methylglyoxal catabolic process to lactate;GO:0140041 cellular detoxification of methylglyoxal;GO:1905259 negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway", "synthesized_glycan_count": 0, "hit_score": 19.7, "record_id": "Q99497-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PN8-1", "uniprot_id": [ { "id": "TSSK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PN8", "type": "external" } ], "mass": 30102.0, "length": 268, "protein_name": "Testis-specific serine/threonine-protein kinase 3", "gene_name": "TSSK3", "organism": "Human", "refseq_name": "testis-specific serine/threonine-protein kinase 3", "refseq_ac": [ { "id": "NP_443073", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443073", "type": "external" } ], "gene_names_uniprotkb": "TSSK3; SPOGA3; STK22C", "gene_names_refseq": "SPOGA3; STK22C; STK22D; TSK3; TSSK3", "protein_names_uniprotkb": "Testis-specific serine/threonine-protein kinase 3; 2.7.11.1; Serine/threonine-protein kinase 22C; TSK-3; TSSK-3; Testis-specific kinase 3", "protein_names_refseq": "TSK-3; TSSK-3; serine/threonine-protein kinase 22C; spermiogenesis associated 3; testis-specific kinase 3; testis-specific serine/threonine kinase 22C; testis-specific serine/threonine-protein kinase 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:81629)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;11597141;16336268;17344846;24715725;25576301;29557506;34623009", "class_list": "", "function": "Human homolog of mouse stk22d; It was cloned and found it to be expressed exclusively in the testis., [RefSeq, PubMed]; PDK1-induced phosphorylation increased in vitro TSSK3 kinase activity, suggesting that TSSK3 can be regulated in the same way as AGC kinase family members. The peptide sequence RRSSSY containing Ser5 is identified as a target for TSSK3 phosphorylation, [RefSeq, PubMed]; Serine/threonine protein kinase required for spermatid development and male fertility., [UniProtKB, UniProtKB]; TSSK3, a novel target for male contraception, is required for spermiogenesis., [RefSeq, PubMed]; This gene encodes a kinase expressed exclusively in the testis that is thought to play a role in either germ cell differentiation or mature sperm 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q5TEE5", "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:0030145 manganese ion binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0036126 sperm flagellum", "go_biological_process": "GO:0007283 spermatogenesis;GO:0007286 spermatid development", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q96PN8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96A09-1", "uniprot_id": [ { "id": "TET5B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96A09", "type": "external" } ], "mass": 46688.0, "length": 425, "protein_name": "Terminal nucleotidyltransferase 5B", "gene_name": "TENT5B", "organism": "Human", "refseq_name": "terminal nucleotidyltransferase 5B", "refseq_ac": [ { "id": "NP_443175", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443175", "type": "external" } ], "gene_names_uniprotkb": "TENT5B; FAM46B", "gene_names_refseq": "FAM46B; FAM46; TENT5B", "protein_names_uniprotkb": "Terminal nucleotidyltransferase 5B; 2.7.7.19; Non-canonical poly(A) polymerase FAM46B", "protein_names_refseq": "family with sequence similarity 46 member B; non-canonical poly(A) polymerase FAM46B; protein FAM46B; putative nucleotidyltransferase FAM46B; terminal nucleotidyltransferase 5B", "tax_id": 9606, "disease": "", "pathway": " (hsa:115572)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "25576301;25645385;27862975;29242379;29331515;29557506;29786170;30379171;30429286;30484775;30532005;30779550;31217245;31844290;32009146;32157095;32161166;32387766;32488085;32897882;32938616;32983136;33592498;33691108;33968037;34048638;35051231;35318648;35580925", "class_list": "", "function": "Catalyzes the transfer of one adenosine molecule from an ATP to an mRNA poly(A) tail bearing a 3'-OH terminal group in an ATP hydrolysis-dependent manner (PubMed:32009146, PubMed:34048638). May be involved in maintaining the translation efficiency of at least some genes through preventing degradation of their mRNAs (PubMed:32009146). Prefers RNA molecules that are adenosine-rich close to 3'-end (PubMed:32009146). In addition, may inhibit cell proliferation and cell cycle progression through ubiquitination of beta-catenin/CTNNB1 (PubMed:30532005)., [UniProtKB, PubMed, PubMed, PubMed]; FAM46B is uniquely and highly expressed in human pre-implantation embryos and pluripotent stem cells, but sharply down-regulated following differentiation., [RefSeq, PubMed]; These data show that FAM46B inhibits cell proliferation and cell cycle progression in PC through ubiquitination of beta-catenin 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 21, "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": "", "ec_number_list": [ { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.7.7.52", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.52", "type": "external" } ], "go_molecular_function": "GO:1990817 poly(A) RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0048255 mRNA stabilization;GO:0045727 positive regulation of translation;GO:0045786 negative regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q96A09-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JXC2-1", "uniprot_id": [ { "id": "MIIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JXC2", "type": "external" } ], "mass": 42824.0, "length": 388, "protein_name": "Migration and invasion-inhibitory protein", "gene_name": "MIIP", "organism": "Human", "refseq_name": "migration and invasion-inhibitory protein", "refseq_ac": [ { "id": "NP_068752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068752", "type": "external" } ], "gene_names_uniprotkb": "MIIP; IIP45", "gene_names_refseq": "IIP45; MIIP", "protein_names_uniprotkb": "Migration and invasion-inhibitory protein; IGFBP2-binding protein; IIp45; Invasion-inhibitory protein 45", "protein_names_refseq": "IGFBP2-binding protein; invasion-inhibitory protein 45; migration and invasion-inhibitory protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:60672)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "14617774;15867349;16901920;19651622;19773279;20008322;20103646;21406692;23186163;23481700;24714562;24715725;25505266;25576301;25880248;26154972;26375851;26728094;26992070;27846572;27869121;27920218;28218747;28832583;28834231;29038521;29242379;29437277;29508533;29557506;29632711;29786170;30315122;30429286;31217245;31530632;31844290;31848261;31937595;32157095;32196585;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33936100;33968037;34171305;34211107;34357683;34931765;34932366;35051231;35580925;36010968;37938771", "class_list": "", "function": "Data show a novel mechanism by which IIp45 inhibits cell motility through inhibition of HDAC6., [RefSeq, PubMed]; IIp45 gene is inactivated by a tumor-specific alternative splicing that generates an aberrant and unstable IIp45 isoform in infiltrative gliomas., [RefSeq, PubMed]; Identified a gene, invasion inhibitory protein 45 (IIp45), whose protein product bound to IGFBP-2 through the thyroglobulin-RGD region of the C terminus of IGFBP-2, [RefSeq, PubMed]; Inhibits glioma cells invasion and down-regulates adhesion- and motility-associated genes such as NFKB2 and ICAM1. Exhibits opposing effects to IGFBP2 on cell invasion., [UniProtKB, PubMed]; MIIP inhibits clear cell renal cell carcinoma proliferation and angiogenesis via negative modulation of the HIF-2alpha-CYR61 axis., [RefSeq, PubMed]; MIIP inhibits malignant progression of hepatocellular carcinoma through regulating AKT., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results suggest MIIP K167E as a functional genetic marker of breast cancer development and prognosis., [RefSeq, PubMed]; This gene encodes a protein that interacts with the oncogene protein insulin-like growth factor binding protein 2 and may function as an inhibitor of cell migration and invasion. This protein also interacts with the cell division protein 20 and may be involved in regulating mitotic progression. This protein may function as a tumor suppressor by inhibiting the growth or certain cancers. [provided by RefSeq, Sep 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": 4, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "C0KL22;Q96HU6;Q9H839;Q9HA00", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0030336 negative regulation of cell migration;GO:0010972 negative regulation of G2/M transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q5JXC2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23511-1", "uniprot_id": [ { "id": "NFYA_HUMAN", "url": "https://www.uniprot.org/uniprot/P23511", "type": "external" } ], "mass": 36877.0, "length": 347, "protein_name": "Nuclear transcription factor Y subunit alpha", "gene_name": "NFYA", "organism": "Human", "refseq_name": "nuclear transcription factor Y subunit alpha isoform 1", "refseq_ac": [ { "id": "NP_002496", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002496", "type": "external" } ], "gene_names_uniprotkb": "NFYA", "gene_names_refseq": "CBF-A; CBF-B; HAP2; NF-YA; NFYA", "protein_names_uniprotkb": "Nuclear transcription factor Y subunit alpha; CAAT box DNA-binding protein subunit A; NF-YA; Nuclear transcription factor Y subunit A", "protein_names_refseq": "CAAT-box DNA binding protein subunit A; CCAAT-binding transcription factor subunit B; HAP2 CCAAT-binding protein; NFYA transcript; Transcription factor NF-Y, A subunit; nuclear transcription factor Y subunit A; nuclear transcription factor Y subunit alpha isoform 1; nuclear transcription factor Y, alpha", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:4800); (R-HSA-1989781); (R-HSA-2426168); (R-HSA-380994); (R-HSA-381183); (R-HSA-9614657)", "pathway_count": 6, "publication_count": 168, "publication_id_list": "10102273;10400691;10441475;10571058;10759542;10777541;10958673;11267664;11414710;11777915;12083769;12118000;12177166;12505311;12582161;12659632;12741956;12764144;12857729;1377680;14576824;14701673;14742429;14973138;15067378;15130092;15385533;1549471;15509806;15635043;16380219;16687408;16912112;16931790;16943287;16972786;16989641;17449569;17925399;18158893;18285520;18540824;18559965;18654640;18669648;18682402;18719978;18726356;18840095;18848529;19088433;19302979;1968462;19710929;19934321;2000400;20022965;20068231;20110263;20138239;20361218;20450493;20719759;20937905;20978166;22412893;22634312;22802018;22819556;22978410;23186163;23269699;23301498;23332751;23707940;2377606;24196956;24714562;24715725;25505266;25576301;26154972;26375851;2663993;2664463;26715362;26728094;26992070;27561725;27846572;28228285;28314751;28832583;29242379;29351928;29393594;29413899;29493099;29508533;29533771;29557506;29632711;29786170;29789417;30315122;30429286;30779550;30833945;31092671;31154438;31217245;31844290;31848261;32119511;32157095;32161166;32488085;32502341;3260265;32897882;32983136;33214551;33392160;33592498;33717175;33968037;33981976;34019948;34171305;34433824;34802034;34925382;35051231;35138101;35154160;35318648;35580925;36010968;36241641;36284347;36680333;37268670;37639593;37938771;39531497;40596516;7567999;7592729;7685352;7732023;7892212;7909540;8020941;8619637;8626466;8626488;8647822;8663599;8798690;8976377;9012850;9099716;9604010;9634533;9748239;9748295;9837962;9864030", "class_list": "", "function": "Component of the sequence-specific heterotrimeric transcription factor (NF-Y) which specifically recognizes a 5'-CCAAT-3' box motif found in the promoters of its target genes. NF-Y can function as both an activator and a repressor, depending on its interacting cofactors. NF-YA positively regulates the transcription of the core clock component BMAL1., [UniProtKB, PubMed]; Myo-differentiation reporter screen reveals NF-Y as an activator of PAX3-FOXO1 in rhabdomyosarcoma., [RefSeq, PubMed]; NFYA promotes malignant behavior of triple-negative breast cancer in mice through the regulation of lipid metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; NFYAv1 is a Tumor-Promoting Transcript Associated with Poor Prognosis of Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The interaction between S100A2 and KPNA2 mediates NFYA nuclear import and is a novel therapeutic target for colorectal cancer metastasis., [RefSeq, PubMed]; The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds to CCAAT motifs in the promoter regions in a variety of genes. Subunit A associates with a tight dimer composed of the B and C subunits, resulting in a trimer that binds to DNA with high specificity and affinity. The sequence specific interactions of the complex are made by the A subunit, suggesting a role as the regulatory subunit. In addition, there is evidence of post-transcriptional regulation in this gene product, either by protein degradation or control of translation. Further regulation is represented by alternative splicing in the glutamine-rich activation domain, with clear tissue-specific preferences for the two isoforms. [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": 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q8IXU0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0032993 protein-DNA complex;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0048511 rhythmic process", "synthesized_glycan_count": 0, "hit_score": 17.7, "record_id": "P23511-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UGI0-1", "uniprot_id": [ { "id": "ZRAN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UGI0", "type": "external" } ], "mass": 80967.0, "length": 708, "protein_name": "Ubiquitin thioesterase ZRANB1", "gene_name": "ZRANB1", "organism": "Human", "refseq_name": "ubiquitin thioesterase ZRANB1", "refseq_ac": [ { "id": "NP_060050", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060050", "type": "external" } ], "gene_names_uniprotkb": "ZRANB1; TRABID", "gene_names_refseq": "TRABID; ZRANB1", "protein_names_uniprotkb": "Ubiquitin thioesterase ZRANB1; 3.4.19.12; TRAF-binding domain-containing protein; Zinc finger Ran-binding domain-containing protein 1; hTrabid", "protein_names_refseq": "TRAF-binding domain-containing protein; TRAF-binding protein domain; hTrabid; ubiquitin thioesterase ZRANB1; zinc finger Ran-binding domain-containing protein 1; zinc finger, RAN-binding domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54764); (R-HSA-195253); (R-HSA-5689896)", "pathway_count": 3, "publication_count": 76, "publication_id_list": "10023660;10092233;10196136;10385526;10421629;10581160;11463333;12554650;12820959;14661020;15258597;15327769;15334086;15735151;16753179;17183061;17204608;17318175;17510365;18281465;18632848;19061640;19383985;19464428;19818707;19996094;20227366;20553488;21834987;22101459;22124327;22157957;22761442;23256519;23481700;23579495;23827681;24610782;25752573;25752577;25904330;26280536;26992070;28218747;28832583;29393594;29437277;29508533;29632046;29632711;29748601;30410026;30429286;30686098;31154438;31844290;31848261;31998317;32938616;33298915;33592498;33637724;33717175;33912179;33968037;34171305;34561969;34798260;35051231;35580925;35944360;37831441;38099646;9230313;9482734;9990852", "class_list": "", "function": "TRABID targets DDB2 for deubiquitination to promote proliferation of hepatocellular carcinoma cells., [RefSeq, PubMed]; The deubiquitinase ZRANB1 is an E3 ubiquitin ligase for SLC7A11 and regulates ferroptotic resistance., [RefSeq, PubMed]; Trabid patient mutations impede the axonal trafficking of adenomatous polyposis coli to disrupt neurite growth. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitin thioesterase, which specifically hydrolyzes 'Lys-29'-linked and 'Lys-33'-linked diubiquitin (PubMed:22157957, PubMed:23827681, PubMed:25752573, PubMed:25752577). Also cleaves 'Lys-63'-linked chains, but with 40-fold less efficiency compared to 'Lys-29'-linked ones (PubMed:18281465). Positive regulator of the Wnt signaling pathway that deubiquitinates APC protein, a negative regulator of Wnt-mediated transcription (PubMed:18281465). Acts as a regulator of autophagy by mediating deubiquitination of PIK3C3/VPS34, thereby promoting autophagosome maturation (PubMed:33637724). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987). Required in the stress fiber dynamics and cell migration (PubMed:21834987)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; ZRANB1 enhances stem-cell-like features and accelerates tumor progression by regulating Sox9-mediated USP22/Wnt/beta-catenin pathway in colorectal 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": 4, "reported_mutagensis": 16, "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": "B4DZ98;D3DRF4;Q5SQP6;Q69YK3", "ec_number_list": [ { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "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:0031593 polyubiquitin modification-dependent protein binding;GO:0070530 K63-linked polyubiquitin modification-dependent protein binding;GO:0004843 cysteine-type deubiquitinase activity;GO:0101005 deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0016579 protein deubiquitination;GO:0070536 protein K63-linked deubiquitination;GO:0016055 Wnt signaling pathway;GO:0090263 positive regulation of canonical Wnt signaling pathway;GO:0030177 positive regulation of Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9UGI0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H8Y5-1", "uniprot_id": [ { "id": "ANKZ1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H8Y5", "type": "external" } ], "mass": 80927.0, "length": 726, "protein_name": "tRNA endonuclease ANKZF1", "gene_name": "ANKZF1", "organism": "Human", "refseq_name": "tRNA endonuclease ANKZF1 isoform 1", "refseq_ac": [ { "id": "NP_001035869", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035869", "type": "external" } ], "gene_names_uniprotkb": "ANKZF1; ZNF744", "gene_names_refseq": "ANKZF1; Vms1; ZNF744", "protein_names_uniprotkb": "tRNA endonuclease ANKZF1; 3.1.-.-; Ankyrin repeat and zinc finger domain-containing protein 1; Zinc finger protein 744", "protein_names_refseq": "ankyrin repeat and zinc finger domain containing 1; ankyrin repeat and zinc finger domain-containing protein 1; tRNA endonuclease ANKZF1 isoform 1; tRNA endonuclease ANKZF1; zinc finger protein 744", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589)", "pathway": " (hsa:55139); (R-HSA-9954709)", "pathway_count": 2, "publication_count": 82, "publication_id_list": "11237011;16964243;17081983;17322306;17924679;18220336;18669648;18767875;19413330;19651622;19664995;20068231;21406692;21896481;23186163;23481700;23685075;24366607;24714562;24715725;25132172;25576301;25578875;26154972;26811146;26992070;27600516;27846572;27920218;28228285;28302725;28446606;28510447;28832583;28834231;28904123;29242379;29393594;29493099;29632312;30244831;30379171;30524438;31011209;31092671;31217245;31257922;31530632;31844290;31848261;31998317;32075755;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33406423;33537174;33592498;33691108;33717175;33909987;33912179;33968037;34087483;34171305;34561969;34932366;35051231;35580925;36010968;37676773;37938771;38666541;38670305", "class_list": "", "function": "ANKZF1 knockdown inhibits glioblastoma progression by promoting intramitochondrial protein aggregation through mitoRQC., [RefSeq, PubMed]; Endonuclease that cleaves polypeptidyl-tRNAs downstream of the ribosome-associated quality control (RQC) pathway to release incompletely synthesized polypeptides for degradation (PubMed:29632312, PubMed:30244831, PubMed:31011209). The RQC pathway disassembles aberrantly stalled translation complexes to recycle or degrade the constituent parts (PubMed:29632312, PubMed:30244831, PubMed:31011209). ANKZF1 acts downstream disassembly of stalled ribosomes and specifically cleaves off the terminal 3'-CCA nucleotides universal to all tRNAs from polypeptidyl-tRNAs, releasing (1) ubiquitinated polypeptides from 60S ribosomal subunit for degradation and (2) cleaved tRNAs (PubMed:31011209). ANKZF1-cleaved tRNAs are then repaired and recycled by ELAC1 and TRNT1 (PubMed:31011209, PubMed:32075755). Also plays a role in the cellular response to hydrogen peroxide and in the maintenance of mitochondrial integrity under conditions of cellular stress (PubMed:28302725)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; High ANKZF1 is an independent factor of poor survival (overall survival and recurrence-free survival) in colon cancer by taking part in angiogenesis and some cancer signaling pathways., [RefSeq, PubMed]; Overexpression of ZNF169 promotes the growth and proliferation of colorectal cancer cells via the upregulation of ANKZF1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "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": "Q9NVZ4", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "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.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0016787 hydrolase activity;GO:0004521 RNA endonuclease activity;GO:0140101 catalytic activity, acting on a tRNA;GO:0004519 endonuclease activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0070301 cellular response to hydrogen peroxide;GO:0036503 ERAD pathway;GO:0006515 protein quality control for misfolded or incompletely synthesized proteins", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q9H8Y5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969K3-1", "uniprot_id": [ { "id": "RNF34_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969K3", "type": "external" } ], "mass": 41641.0, "length": 372, "protein_name": "E3 ubiquitin-protein ligase RNF34", "gene_name": "RNF34", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF34 isoform 3", "refseq_ac": [ { "id": "NP_001243787", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243787", "type": "external" } ], "gene_names_uniprotkb": "RNF34", "gene_names_refseq": "CARP-1; CARP1; RFI; RIFF; RIF; RNF34; hRFI", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF34; 2.3.2.27; CARP-1; Caspase regulator CARP1; Caspases-8 and -10-associated RING finger protein 1; FYVE-RING finger protein Momo; Human RING finger homologous to inhibitor of apoptosis protein; RING finger protein 34; RING finger protein RIFF; RING-type E3 ubiquitin transferase RNF34; hRFI", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF34 isoform 3; E3 ubiquitin-protein ligase RNF34; FYVE-RING finger protein MOMO; RING finger protein RIFF; RING-type E3 ubiquitin transferase RNF34; caspase regulator CARP1; caspases-8 and -10-associated RING finger protein 1; human RING finger homologous to inhibitor of apoptosis protein; ring finger protein 34, E3 ubiquitin protein ligase", "tax_id": 9606, "disease": "", "pathway": " (hsa:80196); (R-HSA-6804757); (R-HSA-983168)", "pathway_count": 3, "publication_count": 128, "publication_id_list": "10608892;10722742;10980695;10980696;11062501;11237011;11350924;11359766;11504915;11923872;11983168;12118383;12646216;14507994;14734113;15053880;15069192;15224091;15224092;1535557;15571818;15595643;15788536;15897238;15916963;1614537;16163388;16402859;16474402;16595681;16845383;16849449;16954532;17121812;18382127;18662542;18669648;19028597;19352404;19452197;19489725;19690332;19756449;19816404;19838211;19851334;19874575;19940261;20068231;20438709;20713061;21308745;21730132;21730163;21986495;22064484;2261476;23186163;24714562;25012219;25576301;26154972;26728094;26811146;26992070;27846572;27920218;28063628;28218747;28228285;28446606;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30524438;30833945;31092671;31154438;31217245;31304625;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33592498;33691108;33912179;33968037;34087483;34171305;34357683;34561969;35051231;35580925;36010968;36241641;7686617;7784084;7957050;8319905;8479525;8887688;8954786;9380723;9668046", "class_list": "", "function": "A novel gene, hRFI, preferentially expressed in esophageal cancer (hRFI), [RefSeq, PubMed]; Data indicate AE induces caspase-8-mediated activation of mitochondrial death pathways by decreasing the stability of CARP mRNAs in a p53-independent manner., [RefSeq, PubMed]; Data indicate that E3 ligase RNF34 is associated with nucleotide-binding oligomerization domain-containing protein 1 (NOD1)., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that regulates several biological processes through the ubiquitin-mediated proteasomal degradation of various target proteins. Ubiquitinates the caspases CASP8 and CASP10, promoting their proteasomal degradation, to negatively regulate cell death downstream of death domain receptors in the extrinsic pathway of apoptosis (PubMed:15069192). May mediate 'Lys-48'-linked polyubiquitination of RIPK1 and its subsequent proteasomal degradation thereby indirectly regulating the tumor necrosis factor-mediated signaling pathway (Ref.13). Negatively regulates p53/TP53 through its direct ubiquitination and targeting to proteasomal degradation (PubMed:17121812). Indirectly, may also negatively regulate p53/TP53 through ubiquitination and degradation of SFN (PubMed:18382127). Mediates PPARGC1A proteasomal degradation probably through ubiquitination thereby indirectly regulating the metabolism of brown fat cells (PubMed:22064484). Possibly involved in innate immunity, through 'Lys-48'-linked polyubiquitination of NOD1 and its subsequent proteasomal degradation (PubMed:25012219)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; HRFI may act as an oncogenic molecule affecting the apoptotic pathway, [RefSeq, PubMed]; Study identified RNF34 as an important regulator of immunity and mitophagy by inducing the autophagic degradation of MAVS aggregates. RNF34 promoted the K63 to K27/K29 ubiquitination transition of MAVS and degraded activated MAVS oligomers. The loss of RNF34 led to defects in mitophagy. The RNF34-mediated mitochondrial quality control mechanism links the innate immune response, mitochondrial homeostasis, and infection., [RefSeq, PubMed]; The protein encoded by this gene contains a RINF finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein interacts with DNAJA3/hTid-1, which is a DnaJ protein reported to function as a modulator of apoptosis. Overexpression of this gene in Hela cells was shown to confer the resistance to TNF-alpha induced apoptosis, suggesting an anti-apoptotic function of this protein. This protein can be cleaved by caspase-3 during the induction of apoptosis. This protein also targets p53 and phospho-p53 for degradation. Alternatively splicing results in multiple transcript variants encoding distinct isoforms. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B7Z933;Q8NG47;Q9H6W8", "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:0031625 ubiquitin protein ligase binding;GO:0061630 ubiquitin protein ligase activity;GO:1901981 phosphatidylinositol phosphate binding;GO:0002039 p53 binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0070417 cellular response to cold;GO:0035872 nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway;GO:2000374 regulation of oxygen metabolic process;GO:0006915 apoptotic process;GO:1901796 regulation of signal transduction by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q969K3-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BT40-1", "uniprot_id": [ { "id": "INP5K_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BT40", "type": "external" } ], "mass": 51090.0, "length": 448, "protein_name": "Inositol polyphosphate 5-phosphatase K", "gene_name": "INPP5K", "organism": "Human", "refseq_name": "inositol polyphosphate 5-phosphatase K isoform 2", "refseq_ac": [ { "id": "NP_001129114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129114", "type": "external" } ], "gene_names_uniprotkb": "INPP5K; PPS; SKIP", "gene_names_refseq": "INPP5K; MDCCAID; PPS; SKIP", "protein_names_uniprotkb": "Inositol polyphosphate 5-phosphatase K; 3.1.3.36; 3.1.3.56; 3.1.3.86; Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase; Phosphatidylinositol-4,5-bisphosphate 5-phosphatase; Skeletal muscle and kidney-enriched inositol phosphatase", "protein_names_refseq": "inositol polyphosphate 5-phosphatase K isoform 2; phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase; phosphatidylinositol-4,5-bisphosphate 5-phosphatase; skeletal muscle and kidney-enriched inositol phosphatase", "tax_id": 9606, "disease": "muscular dystrophy-dystroglycanopathy type B1 (Disease Ontology:DOID:0050588); congenital muscular dystrophy with cataracts and intellectual disability (Disease Ontology:DOID:0080197)", "pathway": " (hsa:51763); (R-HSA-1660499)", "pathway_count": 2, "publication_count": 110, "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;14516276;14617813;14660569;15080793;15107860;15135396;15464023;15716355;15797027;15840652;16154996;16399794;16476736;16522682;16824732;16914545;16959974;16979564;17008356;17245604;17651088;18093523;18753295;19038970;19896968;20534812;21204784;22037487;22647598;23519112;23758345;24715725;25495341;25576301;26940976;26992070;28190456;28190459;28218747;28832583;28834231;29242379;29393594;29437277;29493099;29557506;29786170;30315122;30410026;31154438;31844290;32157095;32265295;32357974;32897882;33792664;33912179;34556534;34932366;35051231;35318648;35580925;36599086;7608176;7624799;8681945;8723348;8769125;9094719;9113989;9211928;9286278;9295334;9367159;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063", "class_list": "", "function": "INPP5K and Atlastin-1 maintain the nonuniform distribution of ER-plasma membrane contacts in neurons. Publication Status: Online-Only, [RefSeq, PubMed]; INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. Erratum:[Brain. 2024 Aug 1;147(8):e62. doi: 10.1093/brain/awae239. PMID: 39023925], [RefSeq, PubMed]; INPP5K controls the dynamic structure and signaling of wild-type and mutated, leukemia-associated IL-7 receptors., [RefSeq, PubMed]; Identification of novel domain that mediates membrane ruffle localization, [RefSeq, PubMed]; Inositol 5-phosphatase which acts on inositol 1,4,5-trisphosphate, inositol 1,3,4,5-tetrakisphosphate, phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate (PubMed:10753883, PubMed:16824732). Has 6-fold higher affinity for phosphatidylinositol 4,5-bisphosphate than for inositol 1,4,5-trisphosphate (PubMed:10753883). Negatively regulates assembly of the actin cytoskeleton. Controls insulin-dependent glucose uptake among inositol 3,4,5-trisphosphate phosphatases; therefore, is the specific regulator for insulin signaling in skeletal muscle (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R6I2;B2R750;D3DTH8;Q15733;Q9NPJ5;Q9P2R5", "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": "3.1.3.86", "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": "3.1.3.16", "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:0034595 phosphatidylinositol phosphate 5-phosphatase activity;GO:0042577 lipid phosphatase activity;GO:0005000 vasopressin receptor activity;GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity;GO:0052658 inositol-1,4,5-trisphosphate 5-phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0010829 negative regulation of D-glucose transmembrane transport;GO:0046627 negative regulation of insulin receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0032869 cellular response to insulin stimulus;GO:0071320 cellular response to cAMP", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q9BT40-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16543-1", "uniprot_id": [ { "id": "CDC37_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16543", "type": "external" } ], "mass": 44468.0, "length": 378, "protein_name": "Hsp90 co-chaperone Cdc37", "gene_name": "CDC37", "organism": "Human", "refseq_name": "hsp90 co-chaperone Cdc37", "refseq_ac": [ { "id": "NP_008996", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008996", "type": "external" } ], "gene_names_uniprotkb": "CDC37; CDC37A", "gene_names_refseq": "CDC37; P50CDC37", "protein_names_uniprotkb": "Hsp90 co-chaperone Cdc37; Hsp90 chaperone protein kinase-targeting subunit; p50Cdc37", "protein_names_refseq": "CDC37 (cell division cycle 37, S. cerevisiae, homolog); CDC37 cell division cycle 37 homolog; hsp90 chaperone protein kinase-targeting subunit; hsp90 co-chaperone Cdc37", "tax_id": 9606, "disease": "", "pathway": " (hsa:11140); (R-HSA-1227986); (R-HSA-1236382); (R-HSA-5637810); (R-HSA-5675482); (R-HSA-8863795); (R-HSA-9013418); (R-HSA-9634285); (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)", "pathway_count": 21, "publication_count": 224, "publication_id_list": "10409742;10579907;10648629;10858314;10878805;11036079;11071886;11085988;11087732;11237011;11278435;12214266;12239347;12471035;12651161;12930845;12944901;1350088;14660651;14718169;15077177;15082798;15093539;15107402;15118073;15118125;15173008;15256466;15284455;15329413;15374980;15568014;15592455;15643424;16024644;16187797;16282325;16777603;16843263;16849543;1688559;1689311;16953218;16969069;16978839;17030621;1706616;17177598;17311002;17349580;17372273;17575237;17644308;17646646;17699773;17709345;17712310;17922836;17942920;18039657;18408761;18413839;18566753;18570872;18669648;18721752;18835386;18922470;18978815;19413330;19560417;19608861;1973074;19933325;20033049;20068231;20112406;20145185;2022652;20966921;21376233;21406692;21737330;21871133;22046346;22424782;22908275;23186163;23220880;23301498;23569206;23843458;23948973;24292678;24608665;24715725;2472219;24971884;25081058;25418920;2543678;25505266;25576301;25619116;25620423;25645385;2566907;25788269;25852146;25853726;25994018;25996294;26154972;26375550;26545934;26775703;26811146;26866270;26900751;26933192;26992070;27015562;27251758;27353360;27846572;27862975;27941885;28073914;28218747;28274957;28661484;28904123;29127155;29242379;29343704;29437277;29478821;29490608;29493099;29557506;29883609;29883610;29930286;29967253;30301790;30314968;30379171;30410026;30429286;30449325;30484775;30770249;30854046;31031142;31138766;31226489;31358971;31611695;31776458;31844290;31871319;32119511;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32800562;32870666;32897882;32938616;32983136;33141586;33214551;33298915;33465208;33592498;33912179;33936100;33968037;33981976;34019948;34087483;34185709;34211107;34405274;34433824;34509645;34999730;35051231;35138101;35251023;35561310;35580925;36010968;36215666;36446791;37217939;37535399;37938771;38665916;40596516;40914422;7478576;7535773;7541030;7542744;7556068;7929212;8026468;8036006;8493579;8530489;8617201;8617750;8665853;8666233;8703009;9108479;9150368;9461599;9482106", "class_list": "", "function": "Co-chaperone that binds to numerous kinases and promotes their interaction with the Hsp90 complex, resulting in stabilization and promotion of their activity (PubMed:8666233). Inhibits HSP90AA1 ATPase activity (PubMed:23569206)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; HSP90-CDC37-PP5 forms a structural platform for kinase dephosphorylation. Publication Status: Online-Only, [RefSeq, PubMed]; Structural insight into guanylyl cyclase receptor hijacking of the kinase-Hsp90 regulatory mechanism. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is highly similar to Cdc 37, a cell division cycle control protein of Sacchromyces cerevisiae. This protein is a molecular chaperone with specific function in cell signal transduction. It has been shown to form complex with Hsp90 and a variety of protein kinases including CDK4, CDK6, SRC, RAF-1, MOK, as well as eIF2 alpha kinases. It is thought to play a critical role in directing Hsp90 to its target kinases. [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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53YA2", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0051082 unfolded protein binding;GO:0051087 protein-folding chaperone binding;GO:0031072 heat shock protein binding;GO:0019900 kinase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:1990565 HSP90-CDC37 chaperone complex;GO:0101031 protein folding chaperone complex", "go_biological_process": "GO:0006605 protein targeting;GO:0010608 post-transcriptional regulation of gene expression;GO:0050821 protein stabilization;GO:0060338 regulation of type I interferon-mediated signaling pathway;GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 22.7, "record_id": "Q16543-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IQ23-1", "uniprot_id": [ { "id": "PKHA7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IQ23", "type": "external" } ], "mass": 127135.0, "length": 1121, "protein_name": "Pleckstrin homology domain-containing family A member 7", "gene_name": "PLEKHA7", "organism": "Human", "refseq_name": "pleckstrin homology domain-containing family A member 7 isoform 1", "refseq_ac": [ { "id": "NP_001316559", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316559", "type": "external" } ], "gene_names_uniprotkb": "PLEKHA7", "gene_names_refseq": "PLEKHA7", "protein_names_uniprotkb": "Pleckstrin homology domain-containing family A member 7; PH domain-containing family A member 7", "protein_names_refseq": "PH domain-containing family A member 7; pleckstrin homology domain containing, family A member 2; pleckstrin homology domain containing, family A member 7; pleckstrin homology domain-containing family A member 6; pleckstrin homology domain-containing family A member 7 isoform 1", "tax_id": 9606, "disease": "glomerulosclerosis (Disease Ontology:DOID:0050851); hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:144100)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15144186;18669648;19041755;19413330;19664994;19664995;19690332;19901323;20166139;20193553;20414254;20479155;21406692;23186163;23481700;24275569;26768311;27846572;27920218;28228285;28904123;29393594;29493099;29557506;29632046;29786170;30379171;30463011;30833945;31154438;31844290;31848261;32157095;32387766;32488085;32938616;33091337;33298915;33968037;33981976;34087483;34509645;35051231;35254053;35580925;35714771;36241641;36284347;36823376", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed]; PLEKHA7 binds with p120catenin and non-centrosomal minus end protein Nezha and plays a linker role between adherens junction and non-centrosomal microtubules., [RefSeq, PubMed]; Required for zonula adherens biogenesis and maintenance (PubMed:19041755). Acts via its interaction with CAMSAP3, which anchors microtubules at their minus-ends to zonula adherens, leading to the recruitment of KIFC3 kinesin to the junctional site (PubMed:19041755). Mediates docking of ADAM10 to zonula adherens through a PDZD11-dependent interaction with the ADAM10-binding protein TSPAN33 (PubMed:30463011)., [UniProtKB, PubMed, PubMed]; Required for zonula adherens biogenesis and maintenance. Acts via its interaction with CAMSAP3, which anchors microtubules at their minus-ends to zonula adherens, leading to the recruitment of KIFC3 kinesin to the junctional site. Mediates docking of ADAM10 to zonula adherens through a PDZD11-dependent interaction with the ADAM10-binding protein TSPAN33., [UniProtKB, UniProtKB, UniProtKB]; The PLEKHA7-PDZD11 complex regulates the localization of the calcium pump PMCA and calcium handling in cultured cells., [RefSeq, PubMed]; The hTERT-p50 homodimer inhibits PLEKHA7 expression to promote gastric cancer invasion and metastasis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 17, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DK33;B4DWC3;Q86VZ7", "ec_number_list": [], "go_molecular_function": "GO:0070097 delta-catenin binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0030054 cell junction;GO:0070062 extracellular exosome", "go_biological_process": "GO:0046931 pore complex assembly;GO:0044331 cell-cell adhesion mediated by cadherin;GO:0045218 zonula adherens maintenance;GO:0090136 epithelial cell-cell adhesion;GO:0042311 vasodilation", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q6IQ23-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJX4-1", "uniprot_id": [ { "id": "APC5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJX4", "type": "external" } ], "mass": 85077.0, "length": 755, "protein_name": "Anaphase-promoting complex subunit 5", "gene_name": "ANAPC5", "organism": "Human", "refseq_name": "anaphase-promoting complex subunit 5 isoform b", "refseq_ac": [ { "id": "NP_001131031", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131031", "type": "external" } ], "gene_names_uniprotkb": "ANAPC5; APC5", "gene_names_refseq": "ANAPC5; APC5", "protein_names_uniprotkb": "Anaphase-promoting complex subunit 5; APC5; Cyclosome subunit 5", "protein_names_refseq": "anaphase-promoting complex subunit 5 isoform b; cyclosome subunit 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:51433); (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": 191, "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;15469821;15571818;15678131;15737063;15774718;16364912;16413484;16595681;16626623;16648845;16824194;16849449;16954532;16959974;17187060;17234884;17485488;18267069;18411265;18445686;18485873;18555777;18555778;18662542;19007248;19028597;19352404;19452197;19489725;19805069;19851334;19874575;19896182;19940261;20028861;20068231;20351173;20452968;20686030;21307936;21325273;21670496;2183031;21979375;22084091;22178396;2261476;22634325;22869377;22885700;23186163;23603117;23846687;23851460;2405250;24397554;24706756;24715725;25043029;25231993;25418920;25576301;25645385;25880248;25892735;26083744;26154972;26222030;26375851;26758079;26811146;26992070;27120157;27249176;27509861;27600516;27846572;27920218;28218747;28228285;28446606;28514659;28731177;28832583;28834231;28904123;29033132;29242379;29393594;29437277;29508533;29557506;29632711;30315122;30410026;30484775;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34509645;34932366;35051231;35580925;36010968;36215666;36241641;36284347;37938771;39894887;8234276;8384717;8413215;8413306;8617720;8688489;8884985;8939459;9380723;9469815;9635433;9668046;9892021", "class_list": "", "function": "Coexpression of APC5 and Axin genes significantly downregulated Wnt signaling in human SW480 CRC cells and inhibited cell growth., [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, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Inactivation and disassembly of the anaphase-promoting complex during human cytomegalovirus infection is associated with degradation of the APC5 and APC4 subunits and does not require UL97-mediated phosphorylation of Cdh1., [RefSeq, PubMed]; This gene encodes a tetratricopeptide repeat-containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for the proper ubiquitination function of APC/C and for the interaction of APC/C with transcription coactivators. It also interacts with polyA binding protein and represses internal ribosome entry site-mediated translation. Multiple transcript variants encoding different isoforms have been found for this gene. These differences cause translation initiation at a downstream AUG and result in a shorter protein (isoform b), compared to isoform a. [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": 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": "E9PFB2;Q8N4H7;Q9BQD4", "ec_number_list": [], "go_molecular_function": "GO:0019903 protein phosphatase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005819 spindle;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:0045842 positive regulation of mitotic metaphase/anaphase transition", "synthesized_glycan_count": 0, "hit_score": 19.4, "record_id": "Q9UJX4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HC62-1", "uniprot_id": [ { "id": "SENP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HC62", "type": "external" } ], "mass": 67855.0, "length": 589, "protein_name": "Sentrin-specific protease 2", "gene_name": "SENP2", "organism": "Human", "refseq_name": "sentrin-specific protease 2", "refseq_ac": [ { "id": "NP_067640", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067640", "type": "external" } ], "gene_names_uniprotkb": "SENP2; KIAA1331", "gene_names_refseq": "AXAM2; SENP2; SMT3IP2", "protein_names_uniprotkb": "Sentrin-specific protease 2; 3.4.22.-; Axam2; SMT3-specific isopeptidase 2; Sentrin/SUMO-specific protease SENP2; Smt3ip2", "protein_names_refseq": "SMT3-specific isopeptidase 2; SUMO1/sentrin/SMT3 specific peptidase 2; SUMO1/sentrin/SMT3 specific protease 2; sentrin (SUMO1) specific peptidase 2; sentrin-specific protease 2; sentrin/SUMO-specific protease SENP2", "tax_id": 9606, "disease": "", "pathway": " (hsa:59343); (R-HSA-3065679)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "11237011;11896061;12192048;14563852;15296745;15487983;16253240;16608850;16738315;16738331;17287340;17591783;19413330;20194620;21965678;23186163;24275569;25576301;25892735;26154972;26375851;26992070;27600516;27920218;28834231;29242379;29557506;29632046;29632711;29786170;30315122;31217245;31844290;32157095;32387766;32897882;32938616;32983136;33298915;33592498;33912179;34171305;35051231;35064188;35580925;36284347;36708515;39056503;39152119", "class_list": "", "function": "Association with the pore plays an important negative role in the regulation of SENP2, [RefSeq, PubMed]; Extracellular vesicle-mediated regulation of imatinib resistance in chronic myeloid leukemia via the miR-629-5p/SENP2/PI3K/AKT/mTOR axis., [RefSeq, PubMed]; Mitochondrial SENP2 regulates the assembly of SDH complex under metabolic stress., [RefSeq, PubMed]; Protease that catalyzes two essential functions in the SUMO pathway (PubMed:11896061, PubMed:12192048, PubMed:15296745, PubMed:20194620, PubMed:21965678). The first is the hydrolysis of an alpha-linked peptide bond at the C-terminal end of the small ubiquitin-like modifier (SUMO) propeptides, SUMO1, SUMO2 and SUMO3 leading to the mature form of the proteins (PubMed:15296745). The second is the deconjugation of SUMO1, SUMO2 and SUMO3 from targeted proteins, by cleaving an epsilon-linked peptide bond between the C-terminal glycine of the mature SUMO and the lysine epsilon-amino group of the target protein (PubMed:15296745, PubMed:20194620, PubMed:21965678). May down-regulate CTNNB1 levels and thereby modulate the Wnt pathway (By similarity). Deconjugates SUMO2 from MTA1 (PubMed:21965678). Plays a dynamic role in adipogenesis by desumoylating and promoting the stabilization of CEBPB (PubMed:20194620). Acts as a regulator of the cGAS-STING pathway by catalyzing desumoylation of CGAS and STING1 during the late phase of viral infection (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; SENP2 regulates mitochondrial function and insulin secretion in pancreatic beta cells., [RefSeq, PubMed]; SUMO1 (UBL1; MIM 601912) is a small ubiquitin-like protein that can be covalently conjugated to other proteins. SENP2 is one of a group of enzymes that process newly synthesized SUMO1 into the conjugatable form and catalyze the deconjugation of SUMO1-containing species.[supplied by OMIM, Apr 2004]., [RefSeq]; Sumo-regulatory SENP2 controls the homeostatic squamous mitosis-differentiation checkpoint. 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": 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": "B4DQ42;Q8IW97;Q96SR2;Q9P2L5", "ec_number_list": [ { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" } ], "go_molecular_function": "GO:0016929 deSUMOylase activity;GO:0070139 SUMO-specific endopeptidase activity;GO:0008234 cysteine-type peptidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0031965 nuclear membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0015031 protein transport;GO:0016925 protein sumoylation;GO:0016055 Wnt signaling pathway;GO:0031398 positive regulation of protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9HC62-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8A2-1", "uniprot_id": [ { "id": "ANR44_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8A2", "type": "external" } ], "mass": 107603.0, "length": 993, "protein_name": "Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B", "gene_name": "ANKRD44", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform A", "refseq_ac": [ { "id": "NP_001182073", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182073", "type": "external" } ], "gene_names_uniprotkb": "ANKRD44", "gene_names_refseq": "ANKRD44; ARSB; PP6-ARS-B", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B; Ankyrin repeat domain-containing protein 44; PP6-ARS-B; Serine/threonine-protein phosphatase 6 regulatory subunit ARS-B", "protein_names_refseq": "ankyrin repeat domain-containing protein 44; serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B isoform A; serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B; serine/threonine-protein phosphatase 6 regulatory subunit ARS-B", "tax_id": 9606, "disease": "", "pathway": " (hsa:91526)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "11237011;18186651;23481700;25418920;25576301;25645385;26154972;26992070;27600516;27655845;27920218;28228285;28446606;28467828;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632711;30315122;30429286;31092671;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32938616;32983136;33141586;33298915;33912179;33968037;34211107;34357683;34509645;34932366;35051231;35154160;35580925;36010968;40914422", "class_list": "", "function": "Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "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": "Q53SL9;Q6P480;Q86VL5;Q8IZ72;Q9UFA4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q8N8A2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96C10-1", "uniprot_id": [ { "id": "DHX58_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96C10", "type": "external" } ], "mass": 76613.0, "length": 678, "protein_name": "ATP-dependent RNA helicase DHX58", "gene_name": "DHX58", "organism": "Human", "refseq_name": "ATP-dependent RNA helicase DHX58", "refseq_ac": [ { "id": "NP_077024", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077024", "type": "external" } ], "gene_names_uniprotkb": "DHX58; D11LGP2E; LGP2", "gene_names_refseq": "D11LGP2; D11lgp2e; DHX58; LGP2; RLR-3", "protein_names_uniprotkb": "ATP-dependent RNA helicase DHX58; 3.6.4.13; ATP-dependent helicase LGP2; Protein D11Lgp2 homolog; RIG-I-like receptor 3; RIG-I-like receptor LGP2; RLR-3; RLR", "protein_names_refseq": "ATP-dependent RNA helicase DHX58; DEXH (Asp-Glu-X-His) box polypeptide 58; RIG-I-like receptor 3; RIG-I-like receptor LGP2; RLR; RNA helicase LGP2; ortholog of mouse D11lgp2; probable ATP-dependent RNA helicase DHX58; probable ATP-dependent helicase LGP2; protein D11Lgp2 homolog", "tax_id": 9606, "disease": "Fanconi anemia (Disease Ontology:DOID:13636)", "pathway": " (hsa:79132); (R-HSA-168928)", "pathway_count": 2, "publication_count": 89, "publication_id_list": "11237011;11735219;15208624;16116171;16125763;16127453;16153868;16394098;17020950;17190814;17392790;17473309;17600090;17709747;18307765;18411269;18591409;19017631;19208642;19211564;19278996;19380577;19403670;19484123;19531363;20403326;20628368;21187438;21481967;21496944;21525357;21616437;21791617;23481700;23711367;23783831;24714562;24755855;25576301;25645385;26154972;26375851;26992070;27846572;27862975;27920218;28228285;28832583;28904123;29242379;29493099;29508533;29557506;29786170;30315122;30429286;30484775;30524438;31256877;31844290;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33440148;33691108;33912179;33968037;34171305;34185709;34509645;34932366;35051231;35318648;35580925;36284347;36515138;36743960;37336810;37938771;38015453;38309507", "class_list": "", "function": "Acts as a regulator of RIGI and IFIH1/MDA5 mediated antiviral signaling. Cannot initiate antiviral signaling as it lacks the CARD domain required for activating MAVS/IPS1-dependent signaling events. Can have both negative and positive regulatory functions related to RIGI and IFIH1/MDA5 signaling and this role in regulating signaling may be complex and could probably depend on characteristics of the infecting virus or target cells, or both. Its inhibitory action on RIG-I signaling may involve the following mechanisms: competition with RIGI for binding to the viral RNA, binding to RIGI and inhibiting its dimerization and interaction with MAVS/IPS1, competing with IKBKE in its binding to MAVS/IPS1 thereby inhibiting activation of interferon regulatory factor 3 (IRF3). Its positive regulatory role may involve unwinding or stripping nucleoproteins of viral RNA thereby facilitating their recognition by RIGI and IFIH1/MDA5. Involved in the innate immune response to various RNA viruses and some DNA viruses such as poxviruses and coronavirus SARS-CoV-2, and also to the bacterial pathogen Listeria monocytogenes (PubMed:31256877). Can bind both ssRNA and dsRNA, with a higher affinity for dsRNA. Shows a preference to 5'-triphosphorylated RNA, although it can recognize RNA lacking a 5'-triphosphate., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Cloning and expression of the mouse Lpg2 mRNA, and comparison of the ORF to that of human LPG2 mRNA., [RefSeq, PubMed]; Contrasting functions of ATP hydrolysis by MDA5 and LGP2 in viral RNA sensing., [RefSeq, PubMed]; Genetic variants of IFIH1 and DHX58 affect the chronicity of hepatitis C in the Chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]; K63-linked polyubiquitination of LGP2 by Riplet regulates RIG-I-dependent innate immune response., [RefSeq, PubMed]; LGP2 can be coexpressed with RIG-I to inhibit activation of the NF-kappaB reporter expression and that LGP2 protein produced in insect cells can bind both single- and double-stranded RNA (dsRNA), with higher affinity and cooperativity for dsRNA., [RefSeq, PubMed]; LGP2 competes with the kinase IKKi for a common interaction site on IPS-1, as an element of negative-feedback regulation of intracellular antiviral signaling., [RefSeq, PubMed]; Shared and unique functions of the DExD/H-box helicases RIG-I, MDA5, and LGP2 in antiviral innate immunity., [RefSeq, PubMed]; The RNA-Binding Proteins OAS1, ZFP36L2, and DHX58 Are Involved in the Regulation of CD44 mRNA Splicing in Colorectal Cancer Cells., [RefSeq, PubMed]; Unraveling blunt-end RNA binding and ATPase-driven translocation activities of the RIG-I family helicase LGP2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 8, "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": "Q9HAM6", "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": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "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": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "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": "2.7.11.1", "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": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "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:0003677 DNA binding;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0016887 ATP hydrolysis activity;GO:0003725 double-stranded RNA binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0009615 response to virus;GO:1900245 positive regulation of MDA-5 signaling pathway;GO:1900246 positive regulation of RIG-I signaling pathway;GO:0032481 positive regulation of type I interferon production;GO:0039534 negative regulation of MDA-5 signaling pathway", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q96C10-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULP0-1", "uniprot_id": [ { "id": "NDRG4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULP0", "type": "external" } ], "mass": 38459.0, "length": 352, "protein_name": "Protein NDRG4", "gene_name": "NDRG4", "organism": "Human", "refseq_name": "protein NDRG4 isoform 2", "refseq_ac": [ { "id": "NP_001123959", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123959", "type": "external" } ], "gene_names_uniprotkb": "NDRG4; BDM1; KIAA1180", "gene_names_refseq": "BDM1; NDRG4; SMAP-8; SMAP8", "protein_names_uniprotkb": "Protein NDRG4; Brain development-related molecule 1; N-myc downstream-regulated gene 4 protein; SMAP-8; Vascular smooth muscle cell-associated protein 8", "protein_names_refseq": "N-myc downstream-regulated gene 4 protein; brain development-related molecule 1; protein NDRG4 isoform 2; protein NDRG4; smooth muscle-associated protein 8; vascular smooth muscle cell-associated protein 8", "tax_id": 9606, "disease": "glioblastoma (Disease Ontology:DOID:3068); high grade glioma (Disease Ontology:DOID:3070)", "pathway": " (hsa:65009)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11230166;11237011;11352569;11936845;12755708;16408304;19592488;25892735;26992070;28834231;29393594;29557506;30524438;31154438;31844290;31848261;32157095;32161166;32938616;33592498;33667214;33890711;33968037;34087483;34564976;35051231;35580925;35899496;36374403;37938771", "class_list": "", "function": "Cloning and expression of the gene; specifically expressed in brain and heart, [RefSeq, PubMed]; Contributes to the maintenance of intracerebral BDNF levels within the normal range, which is necessary for the preservation of spatial learning and the resistance to neuronal cell death caused by ischemic stress (By similarity). May enhance growth factor-induced ERK1 and ERK2 phosphorylation, including that induced by PDGF and FGF. May attenuate NGF-promoted ELK1 phosphorylation in a microtubule-dependent manner., [UniProtKB, PubMed]; Errate: Identification of NDRG Family Member 4 (NDRG4) and CDC28 Protein Kinase Regulatory Subunit 2 (CKS2) as Key Prognostic Genes in Adrenocortical Carcinoma by Transcriptomic Analysis. Correction to:[Med Sci Monit. 2021 Mar 05;27:e928523. doi: 10.12659/MSM.928523. PMID: 33667214] Publication Status: Online-Only, [RefSeq, PubMed]; Highly sensitive fecal DNA testing of NDRG4 12b methylation is a promising marker for detection of colorectal precancerosis., [RefSeq, PubMed]; Identification of NDRG Family Member 4 (NDRG4) and CDC28 Protein Kinase Regulatory Subunit 2 (CKS2) as Key Prognostic Genes in Adrenocortical Carcinoma by Transcriptomic Analysis. Erratum:[Med Sci Monit. 2022 Jul 28;28:e937786. doi: 10.12659/MSM.937786. PMID: 35899496] Publication Status: Online-Only, [RefSeq, PubMed]; Loss of enteric neuronal Ndrg4 promotes colorectal cancer via increased release of Nid1 and Fbln2., [RefSeq, PubMed]; MiR-23a-3p promotes the development of colon cancer by inhibiting the expression of NDRG4., [RefSeq, PubMed]; NDRG4 overexpression enhances ERK activation, [RefSeq, PubMed]; Smap8 is involved in the regulation of mitogenic signalling in vascular smooth muscle cells, possibly in response to a homocysteine-induced injury [SMAP8], [RefSeq, PubMed]; This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that is required for cell cycle progression and survival in primary astrocytes and may be involved in the regulation of mitogenic signalling in vascular smooth muscles cells. Alternative splicing results in multiple transcripts encoding different isoforms.[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": 3, "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": "B3KNU2;B4DK66;B4DSW5;H7C600;Q6ZNE7;Q6ZTI7;Q96PL9;Q9GZM1;Q9GZN3;Q9GZX0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016323 basolateral plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0031253 cell projection membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0008542 visual learning;GO:0010976 positive regulation of neuron projection development;GO:0030154 cell differentiation;GO:0070374 positive regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9ULP0-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35523-1", "uniprot_id": [ { "id": "CLCN1_HUMAN", "url": "https://www.uniprot.org/uniprot/P35523", "type": "external" } ], "mass": 108626.0, "length": 988, "protein_name": "Chloride channel protein 1", "gene_name": "CLCN1", "organism": "Human", "refseq_name": "chloride channel protein 1", "refseq_ac": [ { "id": "NP_000074", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000074", "type": "external" } ], "gene_names_uniprotkb": "CLCN1; CLC1", "gene_names_refseq": "CLC1; CLCN1", "protein_names_uniprotkb": "Chloride channel protein 1; Chloride channel protein, skeletal muscle; ClC-1", "protein_names_refseq": "chloride channel 1, skeletal muscle; chloride channel protein 1; chloride channel protein, skeletal muscle; chloride channel, voltage-sensitive 1; clC-1", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); Becker disease (Disease Ontology:DOID:0081335); Thomsen disease (Disease Ontology:DOID:0081336); porphyria (Disease Ontology:DOID:13268); duodenal ulcer (Disease Ontology:DOID:1724); myotonia congenita (Disease Ontology:DOID:2106); myopathy (Disease Ontology:DOID:423)", "pathway": " (hsa:1180); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 126, "publication_id_list": "10051520;10215406;10564087;10642508;10644771;10720933;10767424;10830164;10831588;10962018;11113225;11182090;11237011;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12456816;12661046;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16027167;16219661;16813530;16849430;16850186;16959974;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19620632;19697366;19808995;19953639;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22521272;22641783;22773952;22946059;2298749;23112050;2321095;23616951;2536303;26007199;26096614;26359375;26502825;26510092;26562072;27653901;27666773;28071645;28154142;28790369;29809153;31022181;34545712;35051231;35866763;36215666;36720299;38644209;38720415;7581380;7588753;7665160;7795595;7874130;7951242;7981681;7981750;8041726;8112288;8130334;8383669;8533761;8544406;8571958;8626462;8809036;8845168;9037075;9122265;9395096;9565403;9566422;9571199;9662395;9700209;9719863;9736777;9744806", "class_list": "", "function": "Clinical and genetic characteristics of myotonia congenita in Chinese population., [RefSeq, PubMed]; Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis., [RefSeq, PubMed]; Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study., [RefSeq, PubMed]; Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people. Publication Status: Online-Only, [RefSeq, PubMed]; The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]., [RefSeq]; Voltage-gated chloride channel involved in skeletal muscle excitability. Generates most of the plasma membrane chloride conductance in skeletal muscle fibers, stabilizes the resting membrane potential and contributes to the repolarization phase during action potential firing (PubMed:12456816, PubMed:16027167, PubMed:22521272, PubMed:22641783, PubMed:26007199, PubMed:26502825, PubMed:26510092, PubMed:7951242, PubMed:8112288, PubMed:8130334, PubMed:9122265, PubMed:9565403, PubMed:9736777). Forms a homodimeric channel where each subunit has its own ion conduction pathway. Conducts double-barreled currents controlled by two types of gates, two fast glutamate gates that control each subunit independently and a slow common gate that opens and shuts off both subunits simultaneously. Has a significant open probability at muscle resting potential and is further activated upon membrane depolarization (PubMed:10051520, PubMed:10962018, PubMed:29809153, PubMed:31022181). Permeable to small monovalent anions with ion selectivity for chloride > thiocyanate > bromide > nitrate > iodide (PubMed:9122265, PubMed:9565403)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; [A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 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": 1, "reported_mutagensis": 23, "reported_glycation": 0, "reported_snv": 16, "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": "A4D2H5;Q2M202", "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:0042803 protein homodimerization activity;GO:0005247 voltage-gated chloride channel activity;GO:0005254 chloride channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0034707 chloride channel complex;GO:0030315 T-tubule;GO:0016020 membrane", "go_biological_process": "GO:0006936 muscle contraction;GO:0006821 chloride transport;GO:1902476 chloride transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "P35523-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UQ03-1", "uniprot_id": [ { "id": "COR2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UQ03", "type": "external" } ], "mass": 54953.0, "length": 480, "protein_name": "Coronin-2B", "gene_name": "CORO2B", "organism": "Human", "refseq_name": "coronin-2B isoform 2", "refseq_ac": [ { "id": "NP_001177385", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177385", "type": "external" } ], "gene_names_uniprotkb": "CORO2B; KIAA0925", "gene_names_refseq": "CLIPINC; CORO2B", "protein_names_uniprotkb": "Coronin-2B; Clipin-C; Coronin-like protein C; Protein FC96", "protein_names_refseq": "clipin C; coronin, actin binding protein, 2B; coronin-2B isoform 2; coronin-like protein C", "tax_id": 9606, "disease": "proliferative diabetic retinopathy (Disease Ontology:DOID:13207)", "pathway": " (hsa:10391)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10224093;16959974;25576301;25645385;26992070;27600516;27846572;28228285;28834231;29162887;29557506;30429286;31154438;31221975;31844290;31848261;32157095;35051231;38665916;38838015", "class_list": "", "function": "CORO2B is a novel podocyte enriched protein influencing cytoskeletal plasticity and stress adaptation. Publication Status: Online-Only, [RefSeq, PubMed]; Coro2b, a podocyte protein downregulated in human diabetic nephropathy, is involved in the development of protamine sulphate-induced foot process effacement. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in the reorganization of neuronal actin structure., [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": 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": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K0W3;O94767;Q8TAN1", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0051015 actin filament binding;GO:0017166 vinculin binding;GO:1990147 talin binding", "go_cellular_component": "GO:0005884 actin filament;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton;GO:0016020 membrane", "go_biological_process": "GO:1904951 positive regulation of establishment of protein localization;GO:0007015 actin filament organization;GO:0032956 regulation of actin cytoskeleton organization;GO:0030036 actin cytoskeleton organization;GO:0048041 focal adhesion assembly", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9UQ03-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52294-1", "uniprot_id": [ { "id": "IMA5_HUMAN", "url": "https://www.uniprot.org/uniprot/P52294", "type": "external" } ], "mass": 60222.0, "length": 538, "protein_name": "Importin subunit alpha-5", "gene_name": "KPNA1", "organism": "Human", "refseq_name": "importin subunit alpha-5", "refseq_ac": [ { "id": "NP_002255", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002255", "type": "external" } ], "gene_names_uniprotkb": "KPNA1; RCH2", "gene_names_refseq": "IPOA5; KPNA1; NPI-1; RCH2; SRP1", "protein_names_uniprotkb": "Importin subunit alpha-5; Karyopherin subunit alpha-1; NPI-1; Nucleoprotein interactor 1; RAG cohort protein 2; SRP1-beta", "protein_names_refseq": "RAG cohort protein 2; SRP1-beta; importin alpha 5; importin subunit alpha-1; importin subunit alpha-5; importin-alpha-S1; karyopherin alpha 1 (importin alpha 5); nucleoprotein interactor 1; recombination activating gene cohort 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:3836); (R-HSA-1169408); (R-HSA-140342); (R-HSA-162592); (R-HSA-168271); (R-HSA-168276); (R-HSA-180910); (R-HSA-68616); (R-HSA-909733); (R-HSA-9636249); (R-HSA-9918432)", "pathway_count": 11, "publication_count": 244, "publication_id_list": "10205180;10228156;10318789;10395669;10542297;10612665;10713148;10846107;10982844;11092454;11095724;11112487;11157743;11237011;11337497;11377645;11404376;11585831;11788588;12029096;12228227;12525615;12582176;12610148;12748178;12766484;12842042;12909626;14769151;15047845;15131269;15149602;15312780;15449939;15485925;15569692;15702989;15731250;15778442;15910001;15942031;16009940;16112642;16122702;16139798;16171819;16175173;16291214;16352599;16407192;16428300;16549788;16698996;16699525;16715065;16762929;16775314;16815975;16872604;16914094;16987978;17251292;17289916;1730654;17351669;17376915;17652399;17680271;17716973;17928350;17938174;17969444;18035202;18239742;18283539;18287095;18305167;18575461;18583345;18691976;19073728;19118899;19125153;19270716;1985200;20068231;20130243;20133869;20219937;20308324;20363976;20385878;20643137;21385873;21454664;21555516;2171144;2211721;22398447;22424782;22500989;22751019;23061660;23121362;23186163;23187890;23481700;23795651;24003239;24275569;24397554;24417533;24715725;25371710;2539592;25576301;25645385;25689043;25784553;25880248;26139588;26154972;26208004;26768311;26811146;26929215;26992070;27383988;27713473;28071726;28228593;28552616;28904123;29493099;29557506;29599122;30315122;3032450;30355688;30429286;30484775;30485383;30576860;30779550;30833945;31092671;31154438;31217245;31222486;31844290;31848261;31937595;31998317;32032529;32113509;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32511913;32574262;32661006;32758689;32808929;32862111;32897882;32938616;32983136;33117408;33123756;33141586;33189161;33193462;33298899;33298915;33392160;33396578;33537174;33592498;33801762;33936100;33968037;33981976;34019948;34087483;34211107;34229054;34357683;34509645;34561969;34709749;34932366;35051231;35215835;35318648;35446349;35580925;35991835;36241641;36284347;37038032;37217939;37938771;38793607;40914422;6162102;6548414;688397;7510216;7526154;7537377;7540766;7559393;7604027;7831767;7892216;8052633;8197134;8232552;8313914;8605876;8621447;8692858;8702790;8883604;9038339;9096384;9108473;9121453;9188609;9242679;9334213;9436978;9463369;9525617;9582382;9651582;9660177;9847332;9860958;9861020", "class_list": "", "function": "(Microbial infection) In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS., [UniProtKB, PubMed]; Decreased Expression of Karyopherin-alpha 1 is Related to the Malignant Degree of Cervical Cancer and is Critical for the Proliferation of Hela Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1 (PubMed:27713473, PubMed:7892216, PubMed:8692858). Binds specifically and directly to substrates containing either a simple or bipartite NLS motif (PubMed:27713473, PubMed:7892216, PubMed:8692858). 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:27713473, PubMed:7892216). 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 (PubMed:7892216). 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:7892216). Mediator of PR-DUB complex component BAP1 nuclear import; acts redundantly with KPNA2 and Transportin-1/TNPO1 (PubMed:35446349)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; KPNA1 regulates nuclear import of NCOR2 splice variant BQ323636.1 to confer tamoxifen resistance in breast cancer., [RefSeq, PubMed]; Karyopherin Subunit Alpha 1 Enhances the Malignant Behaviors of Colon Cancer Cells via Promoting Nuclear Factor-kappaB p65 Nuclear Translocation., [RefSeq, PubMed]; The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. This protein interacts with the recombination activating gene 1 (RAG1) protein and is a putative substrate of the RAG1 ubiquitin ligase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 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": 4, "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": "D3DN93;Q6IBQ9;Q9BQ56", "ec_number_list": [], "go_molecular_function": "GO:0008139 nuclear localization sequence binding;GO:0061608 nuclear import signal receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0000018 regulation of DNA recombination;GO:0006607 NLS-bearing protein import into nucleus;GO:0099527 postsynapse to nucleus signaling pathway;GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 24.7, "record_id": "P52294-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14164-1", "uniprot_id": [ { "id": "IKKE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14164", "type": "external" } ], "mass": 80462.0, "length": 716, "protein_name": "Inhibitor of nuclear factor kappa-B kinase subunit epsilon", "gene_name": "IKBKE", "organism": "Human", "refseq_name": "inhibitor of nuclear factor kappa-B kinase subunit epsilon isoform 3", "refseq_ac": [ { "id": "NP_001180250", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180250", "type": "external" } ], "gene_names_uniprotkb": "IKBKE; IKKE; IKKI; KIAA0151", "gene_names_refseq": "IKBKE; IKK-E; IKK-i; IKKE; IKKI", "protein_names_uniprotkb": "Inhibitor of nuclear factor kappa-B kinase subunit epsilon; 2.7.11.10; I-kappa-B kinase epsilon; IKK-E; IKK-epsilon; IKK-i; IkBKE; Inducible I kappa-B kinase", "protein_names_refseq": "I-kappa-B kinase epsilon; IKK-epsilon; IKK-related kinase epsilon; inducible I kappa-B kinase; inducible IkappaB kinase; inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon; inhibitor of nuclear factor kappa-B kinase subunit epsilon isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:9641); (R-HSA-4755510); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-9013973); (R-HSA-918233); (R-HSA-933541); (R-HSA-936440); (R-HSA-936964); (R-HSA-9692916); (R-HSA-9705671); (R-HSA-9824878); (R-HSA-9828211); (R-HSA-9860927); (R-HSA-9920588)", "pathway_count": 15, "publication_count": 302, "publication_id_list": "10.1101/2023.09.13.557529;10082512;10421793;10521396;10581243;10837247;10882136;11073981;11098060;11124955;11181075;11237011;11244049;11427719;11577081;12019269;12133833;12167698;12604599;12692549;12709429;12721308;12759408;12887920;14517278;14555995;14560022;14651848;14703513;14716293;14739303;15024054;15208624;15210742;15258597;15361868;15870263;16153868;16177806;16281057;16306936;16306937;16682944;16699525;16715065;16829951;16829952;16846591;16858409;16906147;16914100;17035307;17047224;17157040;17190786;17270291;17314102;17327220;17344846;17412287;17526488;17568778;17596301;17599067;17600090;17702576;17761676;17823124;17991829;18057259;18178551;18200010;18280240;18496526;18583960;18617892;18636086;18636090;18691976;19125153;19153231;19278658;19289468;19297320;19307177;19369195;19380580;19398035;19416807;19479062;19668221;19754307;19881509;19893624;19898473;19910467;20043992;20185725;20188669;20219915;20304918;20385093;20434986;20627800;20657822;21138416;21235526;21408173;21464307;21566123;21632562;21862579;22046132;22179575;22253733;22297296;22312431;22435550;22532683;22619329;22649547;22848449;22941947;23313255;23453969;23453971;23453972;23478265;23481700;23483519;23746843;24098568;24173023;24246475;24323043;24509444;24622840;24706939;24722368;24726323;24726327;24854014;24882218;25074923;25135833;25218447;25565632;25576301;25764917;25880248;25907116;26101251;26320399;26344099;26375851;26378163;26900751;26992070;26997266;27164085;27203180;27287717;27307491;27458237;27538435;27545878;27552911;27591049;27832191;27920218;27980081;28011935;28148787;28218747;28228285;28506461;28764923;28832583;28834231;28871256;28920952;28920954;29070839;29242379;29294448;29437277;29493099;29642005;29786170;30146158;30185776;30315122;30361438;30420664;30429286;30484775;30550790;30833945;30988283;31034780;31154438;31231549;31366726;31408443;31511692;31844290;31850239;31867016;31998317;32037480;32152943;32157095;32320653;32353859;32357974;32387766;32428392;32432721;32589897;32673515;32726803;32728199;32778820;32938616;32953130;32979938;33024073;33060197;33097660;33110251;33298915;33349665;33360543;33372174;33372854;33391252;33396605;33440148;33469115;33479219;33495715;33514628;33567255;33592498;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33963333;33968037;33989516;33990585;34021074;34054808;34084167;34110168;34162724;34166398;34185709;34239064;34290717;34341353;34363755;34375313;34400613;34439781;34452305;34471099;34502139;34509645;34597346;34876703;34932366;35051231;35102342;35154160;35580925;35643212;35941131;36241641;36284347;36936901;37051252;37573607;39000042;7531702;7667287;9049422;9065443;9463386;9541017;9566918;9660935;9734360;9822609;9989503", "class_list": "", "function": "Exploring the Roles of Key Mediators IKBKE and HSPA1A in Alzheimer's Disease and Hepatocellular Carcinoma through Bioinformatics Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; IKBKE is a noncanonical I-kappa-B (see MIM 164008) kinase (IKK) that is essential for regulating antiviral signaling pathways. IKBKE has also been identified as a breast cancer (MIM 114480) oncogene and is amplified and overexpressed in over 30% of breast carcinomas and breast cancer cell lines (Hutti et al., 2009 [PubMed 19481526]).[supplied by OMIM, Oct 2009]., [RefSeq]; IKBKE regulates angiogenesis by modulating VEGF expression and secretion in glioblastoma., [RefSeq, PubMed]; IKKepsilon and TBK1 have a pivotal role in coordinating the activation of IRF3 and NF-kappaB in the innate immune response., [RefSeq, PubMed]; Increased IKK protein stability ensures efficient type I interferon responses in conditions of TBK1 deficiency. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine kinase that plays an essential role in regulating inflammatory responses to viral infection, through the activation of the type I IFN, NF-kappa-B and STAT signaling. Also involved in TNFA and inflammatory cytokines, like Interleukin-1, signaling. Following activation of viral RNA sensors, such as RIG-I-like receptors, associates with DDX3X and phosphorylates interferon regulatory factors (IRFs), IRF3 and IRF7, as well as DDX3X. This activity allows subsequent homodimerization and nuclear translocation of the IRF3 leading to transcriptional activation of pro-inflammatory and antiviral genes including IFNB. In order to establish such an antiviral state, IKBKE forms several different complexes whose composition depends on the type of cell and cellular stimuli. Thus, several scaffolding molecules including IPS1/MAVS, TANK, AZI2/NAP1 or TBKBP1/SINTBAD can be recruited to the IKBKE-containing-complexes. Activated by polyubiquitination in response to TNFA and interleukin-1, regulates the NF-kappa-B signaling pathway through, at least, the phosphorylation of CYLD. Phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor. In addition, is also required for the induction of a subset of ISGs which displays antiviral activity, may be through the phosphorylation of STAT1 at 'Ser-708'. Phosphorylation of STAT1 at 'Ser-708' also seems to promote the assembly and DNA binding of ISGF3 (STAT1:STAT2:IRF9) complexes compared to GAF (STAT1:STAT1) complexes, in this way regulating the balance between type I and type II IFN responses. Protects cells against DNA damage-induced cell death. Also plays an important role in energy balance regulation by sustaining a state of chronic, low-grade inflammation in obesity, wich leads to a negative impact on insulin sensitivity. Phosphorylates AKT1., [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": 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": 9, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 40, "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": "D3DT78;Q3B754;Q3KR43;Q5JTS6", "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": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" } ], "go_molecular_function": "GO:0036435 K48-linked polyubiquitin modification-dependent protein binding;GO:0008384 IkappaB kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0006955 immune response;GO:0048255 mRNA stabilization;GO:0051607 defense response to virus;GO:0010884 positive regulation of lipid storage;GO:0060337 type I interferon-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 30.5, "record_id": "Q14164-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0R8-1", "uniprot_id": [ { "id": "GBRL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0R8", "type": "external" } ], "mass": 14044.0, "length": 117, "protein_name": "Gamma-aminobutyric acid receptor-associated protein-like 1", "gene_name": "GABARAPL1", "organism": "Human", "refseq_name": "gamma-aminobutyric acid receptor-associated protein-like 1 isoform 2", "refseq_ac": [ { "id": "NP_113600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113600", "type": "external" } ], "gene_names_uniprotkb": "GABARAPL1; GEC1", "gene_names_refseq": "APG8-LIKE; APG8L; ATG8B; ATG8L; ATG8; GABARAPL1; GEC1", "protein_names_uniprotkb": "Gamma-aminobutyric acid receptor-associated protein-like 1; Early estrogen-regulated protein; GABA(A) receptor-associated protein-like 1; GEC-1; Glandular epithelial cell protein 1", "protein_names_refseq": "GABA(A) receptor-associated protein-like 1; early estrogen-regulated protein; gamma-aminobutyric acid receptor-associated protein-like 1 isoform 2; gamma-aminobutyric acid receptor-associated protein-like 1; glandular epithelial cell protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23710); (R-HSA-1632852)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "11096062;11230166;11237011;11374880;11414770;11825910;15187094;16431922;16963840;17580304;17618624;18321988;18439900;19211835;19322194;19590496;19855179;19898463;20059746;20404487;20562859;20713597;20921139;21177865;21205641;21258367;21383122;21460621;21819378;22170151;22354992;22470510;22682742;22948227;23043107;23112293;23202584;23685627;23690988;23727157;23884233;24668264;24747438;24954904;25127057;25484072;25502872;25568151;25684205;26347139;26355087;26929408;28287329;28510447;29420192;29458288;30484775;30661429;31006537;31006538;31722778;32157095;32315611;33123756;33909989;33912179;34338405;36215666;37478627;37658135;7628435", "class_list": "", "function": "METTL3 promotes hyperoxia-induced pyroptosis in neonatal bronchopulmonary dysplasia by inhibiting ATG8-mediated autophagy. Publication Status: Online-Only, [RefSeq, PubMed]; The transcription factor NRF1 (NFE2L1) activates aggrephagy by inducing p62 and GABARAPL1 after proteasome inhibition to maintain proteostasis. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitin-like modifier that increases cell-surface expression of kappa-type opioid receptor through facilitating anterograde intracellular trafficking of the receptor (PubMed:16431922). Involved in formation of autophagosomal vacuoles (PubMed:20404487). 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:20404487). 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)., [UniProtKB, 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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B4E0Y7;Q6FIE6", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0031625 ubiquitin protein ligase binding;GO:0030957 Tat protein binding;GO:0008429 phosphatidylethanolamine binding;GO:0048487 beta-tubulin binding", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0000045 autophagosome assembly;GO:0000423 mitophagy;GO:0006995 cellular response to nitrogen starvation;GO:0061723 glycophagy", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9H0R8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJX5-1", "uniprot_id": [ { "id": "APC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJX5", "type": "external" } ], "mass": 92116.0, "length": 808, "protein_name": "Anaphase-promoting complex subunit 4", "gene_name": "ANAPC4", "organism": "Human", "refseq_name": "anaphase-promoting complex subunit 4 isoform 1", "refseq_ac": [ { "id": "NP_001273685", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273685", "type": "external" } ], "gene_names_uniprotkb": "ANAPC4; APC4", "gene_names_refseq": "ANAPC4; APC4", "protein_names_uniprotkb": "Anaphase-promoting complex subunit 4; APC4; Cyclosome subunit 4", "protein_names_refseq": "anaphase-promoting complex subunit 4 isoform 1; cyclosome subunit 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:29945); (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": 184, "publication_id_list": "10201372;10318916;10339564;10411507;10432220;10548110;10679238;10733526;10793135;10884341;10995389;11046155;11062501;11081627;11114305;11125146;11237011;11248027;11285280;11340163;11350924;11371342;11509732;11535616;11562349;11598127;11742988;11859075;11988738;12006501;12070128;12194817;12446569;12646216;12832467;14657031;14672932;14679213;14734113;14743218;15014503;15029244;15224091;15224092;15469821;15571818;15678131;15737063;15774718;16364912;16413484;16595681;16626623;16648845;16824194;16849449;16954532;16959974;17187060;17234884;17485488;18267069;18411265;18445686;18452278;18485873;18555777;18555778;18662542;18669648;19028597;19352404;19413330;19452197;19489725;19690332;19805069;19851334;19874575;19896182;19940261;20028861;20068231;20351173;20452968;21325273;21670496;2183031;21979375;22084091;22178396;2261476;22634325;22885700;23186163;23481700;23603117;23846687;23851460;2405250;24706756;24715725;25043029;25231993;25418920;25576301;25880248;25892735;26083744;26154972;26222030;26992070;27120157;27249176;27259151;27509861;27846572;27862975;27920218;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29033132;29242379;29393594;29437277;29493099;29508533;29517484;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30524438;31217245;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34561969;34595750;34932366;35051231;35318648;35580925;36010968;36241641;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 exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]., [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: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]; We have also identified a functionally important SUMO interacting motif in the cullin-homology domain of APC2 located near the APC4 sumoylation sites and APC/C catalytic core. Our findings provide evidence of an important regulatory role for SUMO modification and binding in affecting APC/C activation and mitotic exit. 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": 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": "A8K8H1;E9PCR4;Q6PCC6;Q9NSH6", "ec_number_list": [], "go_molecular_function": "GO:0004842 ubiquitin-protein transferase activity;GO:0019903 protein phosphatase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005680 anaphase-promoting complex;GO:0034399 nuclear periphery", "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:0030071 regulation of mitotic metaphase/anaphase transition", "synthesized_glycan_count": 0, "hit_score": 18.5, "record_id": "Q9UJX5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51809-1", "uniprot_id": [ { "id": "VAMP7_HUMAN", "url": "https://www.uniprot.org/uniprot/P51809", "type": "external" } ], "mass": 24935.0, "length": 220, "protein_name": "Vesicle-associated membrane protein 7", "gene_name": "VAMP7", "organism": "Human", "refseq_name": "vesicle-associated membrane protein 7 isoform 2", "refseq_ac": [ { "id": "NP_001138621", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138621", "type": "external" } ], "gene_names_uniprotkb": "VAMP7; SYBL1", "gene_names_refseq": "SYBL1; TI-VAMP; TIVAMP; VAMP-7; VAMP7", "protein_names_uniprotkb": "Vesicle-associated membrane protein 7; Synaptobrevin-like protein 1; Tetanus-insensitive VAMP; Ti-VAMP; VAMP-7", "protein_names_refseq": "synaptobrevin-like 1; synaptobrevin-like protein 1; tetanus neurotoxin-insensitive VAMP; tetanus-insensitive VAMP; vesicle-associated membrane protein 7 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:6845); (R-HSA-199992); (R-HSA-432720); (R-HSA-432722); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-9020591)", "pathway_count": 7, "publication_count": 319, "publication_id_list": "10097102;10394364;10415122;10436022;10436028;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10655549;10766823;10769163;10888671;10899108;10983987;11054122;11071885;11076969;11082044;11101518;11139587;11231140;11237011;11239472;11247302;11333915;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11590181;11604418;11694590;11877457;11877461;11889126;11919637;11927540;11988742;11994746;12057195;12086608;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12717448;12847086;12853575;12893768;12944396;12952949;12958364;1317852;1347984;14555962;14581451;14617351;14622578;14622579;14662753;14726597;14993220;15004198;15087447;15102850;15134832;15252009;15260957;15318165;15339664;1535555;15473838;15502812;15502813;15649145;15671180;15703209;15720785;15728179;1578138;15802264;15895077;15916959;16103228;16155256;16159959;16215232;16326391;16410077;16459302;16460808;16516836;16677249;16707488;16723738;1674604;16798879;16867982;16880396;16903783;16984405;17018281;17035995;17116749;17158794;17267500;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17681954;17713526;17762867;17765681;17897319;17978091;18032517;18042464;18093523;18166656;18199683;18388313;18389480;1847920;18578522;18692471;18767875;18775314;18790740;18819912;18973100;18981233;19092055;19140243;19287005;19296720;19413330;19458185;19536138;19559397;19575674;19603039;19651769;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;20033059;20054003;20059951;20068231;20211604;20230749;20231386;20351096;20428113;20448150;20708039;20826345;20946875;21102408;2115402;21187331;21278753;21316588;21445324;21482805;21499258;21613550;21620353;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22484487;22505844;2257624;22645359;22815487;22863004;22942912;23186163;23297414;23471971;23536704;23741335;23823722;23861397;23891661;24130457;24186068;24384571;24494924;24581490;24680432;24746795;24789820;24966051;25107275;25259790;25303366;25341920;25576301;25648148;25880248;26024233;26042225;26154972;26403691;26829388;26972013;26992070;27600516;28063628;28467828;28832583;28904123;2890644;29242379;29314611;29393594;29493099;29557506;29632046;29632711;29789417;30410026;30429286;30779550;31154438;31217245;31530632;31844290;32157095;32161166;32350084;32357974;32387766;32938616;32983136;33392160;33592498;33633747;33717175;33912179;33936100;33968037;3417785;34185709;34357683;34509645;34932366;35051231;35082283;35154160;35251023;35580925;36010968;36215666;36241641;38139155;38182888;38393934;6146630;7527811;7569928;7638186;7822302;7877694;7911493;8374173;8524399;8552632;8553074;8640232;8670264;8810314;8837779;8943050;9092476;9100026;9169477;9303539;9427626;9428629;9498755;9614177;9635431;9723620;9727496;9733768;9736607;9812899;9890938", "class_list": "", "function": "Involved in the targeting and/or fusion of transport vesicles to their target membrane during transport of proteins from the early endosome to the lysosome. Required for heterotypic fusion of late endosomes with lysosomes and homotypic lysosomal fusion. Required for calcium regulated lysosomal exocytosis. Involved in the export of chylomicrons from the endoplasmic reticulum to the cis Golgi. Required for exocytosis of mediators during eosinophil and neutrophil degranulation, and target cell killing by natural killer cells. Required for focal exocytosis of late endocytic vesicles during phagosome formation., [UniProtKB, PubMed, PubMed, PubMed]; The EMT-induced lncRNA NR2F1-AS1 positively modulates NR2F1 expression and drives gastric cancer via miR-29a-3p/VAMP7 axis. Publication Status: Online-Only, [RefSeq, PubMed]; The STX17-SNAP47-VAMP7/VAMP8 complex is the default SNARE complex mediating autophagosome-lysosome fusion., [RefSeq, PubMed]; This gene encodes a transmembrane protein that is a member of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) family. The encoded protein localizes to late endosomes and lysosomes and is involved in the fusion of transport vesicles to their target membranes. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]., [RefSeq]; Upregulation of vesicle-associated membrane protein 7 in breast cancer tissues., [RefSeq, PubMed]; VAMP7j: A Splice Variant of Human VAMP7 That Modulates Neurite Outgrowth by Regulating L1CAM Transport to the Plasma Membrane. 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": 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": "Q53GY7;Q7Z409;Q9H4A7", "ec_number_list": [], "go_molecular_function": "GO:0000149 SNARE binding;GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030027 lamellipodium", "go_biological_process": "GO:0006911 phagocytosis, engulfment;GO:0015031 protein transport;GO:0043312 neutrophil degranulation;GO:0016236 macroautophagy;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 32.0, "record_id": "P51809-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHD2-1", "uniprot_id": [ { "id": "TBK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHD2", "type": "external" } ], "mass": 83642.0, "length": 729, "protein_name": "Serine/threonine-protein kinase TBK1", "gene_name": "TBK1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase TBK1", "refseq_ac": [ { "id": "NP_037386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037386", "type": "external" } ], "gene_names_uniprotkb": "TBK1; NAK", "gene_names_refseq": "AIARV; FTDALS4; IIAE8; NAK; T2K; TBK1", "protein_names_uniprotkb": "Serine/threonine-protein kinase TBK1; 2.7.11.1; NF-kappa-B-activating kinase; T2K; TANK-binding kinase 1", "protein_names_refseq": "NF-kB-activating kinase; NF-kappa-B-activating kinase; serine/threonine-protein kinase TBK1", "tax_id": 9606, "disease": "frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (Disease Ontology:DOID:0110069); open-angle glaucoma (Disease Ontology:DOID:1067); brain disease (Disease Ontology:DOID:936); encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 (MONDO:MONDO:0054754); autoinflammation with arthritis and vasculitis (MONDO:MONDO:0971173)", "pathway": " (hsa:29110); (R-HSA-1606341); (R-HSA-168928); (R-HSA-3134975); (R-HSA-3249367); (R-HSA-3270619); (R-HSA-5205685); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-9008059); (R-HSA-9013973); (R-HSA-918233); (R-HSA-933541); (R-HSA-936440); (R-HSA-936964); (R-HSA-9679191); (R-HSA-9692916); (R-HSA-9705671); (R-HSA-9824878); (R-HSA-9828211)", "pathway_count": 20, "publication_count": 464, "publication_id_list": "10.1101/2023.09.13.557529;10082512;10087012;10421793;10521396;10581243;10783893;10837247;11035028;11073981;11098060;11145836;11181075;11237011;11244049;11427719;11577081;11839743;12019269;12096920;12133833;12167698;12381835;12604599;12692549;12702806;12709429;12721308;12759408;12809600;12887920;14517278;14530355;14555995;14560022;14703513;14716293;14739303;15024054;15208624;15210742;15258597;15361868;15367631;15485837;15489227;15527767;15841462;15870263;16115318;16125763;16127453;16153868;16155125;16281057;16306936;16306937;16394098;16522641;16682944;16699525;16715065;16829951;16829952;16846591;16858409;16914100;17018283;17035307;17047224;17157040;17190786;17270291;17314102;17327220;17344846;17392790;17412287;17483521;17526488;17596301;17599067;17600090;17618271;17662961;17702576;17761676;17823124;17991829;18057259;18178551;18200010;18307765;18356163;18390730;18583960;18591409;18636086;18691976;18818105;19010780;19017631;19125153;19153231;19278658;19289468;19307177;19380580;19398035;19416807;19416887;19419966;19432818;19433799;19479062;19483718;19484123;19531363;19668221;19776740;19881509;19893624;19898473;19910467;19926846;20043992;20126261;20174559;20185725;20219915;20223979;20304918;20375222;20385093;20403326;20434986;20627800;20628368;20712405;20935647;21042276;21074459;21115803;21138416;21145761;21194381;21235526;21270402;21408173;21447600;21464307;21617041;21632562;21813773;21862579;21862588;21903422;21931631;22000020;22046132;22179575;22253733;22297296;22306015;22312431;22388039;22394562;22401777;22435550;22552008;22579474;22619329;22745133;22750291;22814904;22848449;22851595;22898188;22941947;22945920;23186163;23222971;23313255;23396211;23453969;23453971;23453972;23481700;23483519;23641311;23746807;23746843;24098568;24246475;24272870;24323043;24478431;24481253;24509444;24560620;24584101;24622840;24660806;24706939;24715725;24722368;24726323;24726327;24751536;24752990;24755855;24784582;24854014;25135833;25418920;25474007;25503978;25527497;25565632;25576301;25636800;25645385;25729923;25736436;25764917;25801024;25803835;25815785;25880248;25891802;25892735;25907116;25943890;26002965;26116755;26320399;26344099;26365381;26376340;26378163;26407194;26513235;26611359;26811146;26900751;26992070;26997266;27035970;27060871;27103069;27135603;27164085;27203180;27247382;27307491;27458237;27538435;27545878;27552911;27591049;27600516;27692986;27776110;27846572;27920218;27935834;28011935;28049762;28092676;28148787;28159912;28218747;28228285;28373913;28425720;28467828;28506461;28676338;28832583;28834231;28848048;28871090;28904123;28920952;28920954;29125880;29150432;29242379;29294448;29331515;29379028;29393594;29394115;29508533;29557506;29605689;29632046;29632711;29642005;29755980;29769354;29786170;29945920;29995846;30021902;30033073;30146158;30185776;30201761;30315122;30354798;30361438;30420664;30429286;30484775;30524438;30573663;30627666;30779550;30833945;30842653;30853401;30867315;30988283;31034780;31048504;31154438;31217245;31231549;31366726;31379806;31442668;31509299;31511692;31530632;31530866;31709703;31792381;31844290;31848261;31850239;31998317;32157095;32161166;32185393;32296703;32298923;32320653;32350084;32353859;32357974;32366851;32387766;32404352;32428392;32447396;32488085;32502341;32514015;32589897;32726803;32728199;32757223;32772249;32897882;32938616;32953130;32972995;32979938;32983136;33024073;33060197;33097660;33110251;33226137;33298915;33349665;33360543;33372174;33372854;33392160;33396605;33440148;33469115;33479219;33495715;33514628;33537174;33567255;33592498;33691108;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33963333;33968037;33981976;33989516;33990585;34021074;34054808;34084167;34087483;34110168;34162724;34166398;34185709;34239064;34290717;34341353;34357683;34363755;34375313;34400613;34433824;34439781;34452305;34471099;34502139;34509645;34561969;34597346;34876703;34932366;35051231;35102342;35154160;35318648;35406696;35561310;35580925;35643212;35868534;35941131;36010968;36215666;36241641;36581221;36802409;36936901;37051252;37086853;37926288;37938771;38287189;39423796;7531702;7667287;9049422;9065443;9463386;9541017;9566918;9660935;9822609;9989503", "class_list": "", "function": "A TBK1-independent primordial function of STING in lysosomal biogenesis., [RefSeq, PubMed]; IKK-i and TBK-1 are enzymatically distinct from the homologous enzyme IKK-2: comparative analysis of recombinant human IKK-i, TBK-1, and IKK-2., [RefSeq, PubMed]; IKKepsilon and TBK1 have a pivotal role in coordinating the activation of IRF3 and NF-kappaB in the innate immune response., [RefSeq, PubMed]; Serine/threonine kinase that plays an essential role in regulating inflammatory responses to foreign agents (PubMed:10581243, PubMed:11839743, PubMed:12692549, PubMed:12702806, PubMed:14703513, PubMed:15367631, PubMed:15485837, PubMed:18583960, PubMed:21138416, PubMed:23453971, PubMed:23453972, PubMed:23746807, PubMed:25636800, PubMed:26611359, PubMed:32404352, PubMed:34363755, PubMed:32298923). Following activation of toll-like receptors by viral or bacterial components, associates with TRAF3 and TANK and phosphorylates interferon regulatory factors (IRFs) IRF3 and IRF7 as well as DDX3X (PubMed:12692549, PubMed:12702806, PubMed:14703513, PubMed:15367631, PubMed:18583960, PubMed:25636800). This activity allows subsequent homodimerization and nuclear translocation of the IRFs leading to transcriptional activation of pro-inflammatory and antiviral genes including IFNA and IFNB (PubMed:12702806, PubMed:15367631, PubMed:25636800, PubMed:32972995). In order to establish such an antiviral state, TBK1 form several different complexes whose composition depends on the type of cell and cellular stimuli (PubMed:23453971, PubMed:23453972, PubMed:23746807). Plays a key role in IRF3 activation: acts by first phosphorylating innate adapter proteins MAVS, STING1 and TICAM1 on their pLxIS motif, leading to recruitment of IRF3, thereby licensing IRF3 for phosphorylation by TBK1 (PubMed:25636800, PubMed:30842653, PubMed:37926288). Phosphorylated IRF3 dissociates from the adapter proteins, dimerizes, and then enters the nucleus to induce expression of interferons (PubMed:25636800). Thus, several scaffolding molecules including FADD, TRADD, MAVS, AZI2, TANK or TBKBP1/SINTBAD can be recruited to the TBK1-containing-complexes (PubMed:21931631). Under particular conditions, functions as a NF-kappa-B effector by phosphorylating NF-kappa-B inhibitor alpha/NFKBIA, IKBKB or RELA to translocate NF-Kappa-B to the nucleus (PubMed:10783893, PubMed:15489227). Restricts bacterial proliferation by phosphorylating the autophagy receptor OPTN/Optineurin on 'Ser-177', thus enhancing LC3 binding affinity and antibacterial autophagy (PubMed:21617041). Phosphorylates SMCR8 component of the C9orf72-SMCR8 complex, promoting autophagosome maturation (PubMed:27103069). Phosphorylates ATG8 proteins MAP1LC3C and GABARAPL2, thereby preventing their delipidation and premature removal from nascent autophagosomes (PubMed:31709703). Seems to play a role in energy balance regulation by sustaining a state of chronic, low-grade inflammation in obesity, which leads to a negative impact on insulin sensitivity (By similarity). Attenuates retroviral budding by phosphorylating the endosomal sorting complex required for transport-I (ESCRT-I) subunit VPS37C (PubMed:21270402). Phosphorylates Borna disease virus (BDV) P protein (PubMed:16155125). Plays an essential role in the TLR3- and IFN-dependent control of herpes virus HSV-1 and HSV-2 infections in the central nervous system (PubMed:22851595). Acts both as a positive and negative regulator of the mTORC1 complex, depending on the context: activates mTORC1 in response to growth factors by catalyzing phosphorylation of MTOR, while it limits the mTORC1 complex by promoting phosphorylation of RPTOR (PubMed:29150432, PubMed:31530866). Acts as a positive regulator of the mTORC2 complex by mediating phosphorylation of MTOR, leading to increased phosphorylation and activation of AKT1 (By similarity). Phosphorylates and activates AKT1 (PubMed:21464307). Involved in the regulation of TNF-induced RIPK1-mediated cell death, probably acting via CYLD phosphorylation that in turn controls RIPK1 ubiquitination status (PubMed:34363755). Also participates in the differentiation of T follicular regulatory cells together with the receptor ICOS (PubMed:27135603)., [UniProtKB, 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, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. The protein is also an important kinase for antiviral innate immunity response. [provided by RefSeq, Sep 2021]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 8, "reported_mutagensis": 32, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K4S4;Q8IYV3;Q9NUJ5", "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": "3.6.5.-", "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": "2.7.2.3", "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": "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": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "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": "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": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "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": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "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": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "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:0042802 identical protein binding;GO:0051219 phosphoprotein binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0032727 positive regulation of interferon-alpha production;GO:0006468 protein phosphorylation;GO:0006954 inflammatory response;GO:0010629 negative regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 46.7, "record_id": "Q9UHD2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q00536-1", "uniprot_id": [ { "id": "CDK16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q00536", "type": "external" } ], "mass": 55716.0, "length": 496, "protein_name": "Cyclin-dependent kinase 16", "gene_name": "CDK16", "organism": "Human", "refseq_name": "cyclin-dependent kinase 16 isoform 3", "refseq_ac": [ { "id": "NP_001163931", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001163931", "type": "external" } ], "gene_names_uniprotkb": "CDK16; PCTAIRE1; PCTK1", "gene_names_refseq": "CDK16; PCTAIRE1; PCTAIRE; PCTGAIRE; PCTK1", "protein_names_uniprotkb": "Cyclin-dependent kinase 16; 2.7.11.22; Cell division protein kinase 16; PCTAIRE-motif protein kinase 1; Serine/threonine-protein kinase PCTAIRE-1", "protein_names_refseq": "PCTAIRE-motif protein kinase 1; cell division protein kinase 16; cyclin-dependent kinase 16 isoform 3; serine/threonine-protein kinase PCTAIRE-1; testis secretory sperm-binding protein Li 224n", "tax_id": 9606, "disease": "", "pathway": " (hsa:5127)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "11237011;12084709;12154078;1639063;17081983;17192257;17322306;18212344;18452278;18669648;18691976;18767875;19369195;19413330;19651622;19901323;20068231;21335063;21406692;22184064;22564745;22796189;22798068;23186163;23481700;24715725;25576301;25645385;25880248;26154972;26992070;27846572;27920218;28218747;28228285;28510447;28514659;28834231;28904123;29508533;29557506;30315122;31844290;32098961;32157095;32357974;32387766;32502341;32897882;32938616;33141586;33717175;33889818;33968037;33981976;34171305;34211107;34509645;35051231;35449080;35580925;37236028;37373155", "class_list": "", "function": "CDK16 promotes the progression and metastasis of triple-negative breast cancer by phosphorylating PRC1. Publication Status: Online-Only, [RefSeq, PubMed]; PCTAIRE Protein Kinase 1 (PCTK1) Suppresses Proliferation, Stemness, and Chemoresistance in Colorectal Cancer through the BMPR1B-Smad1/5/8 Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Protein kinase that plays a role in vesicle-mediated transport processes and exocytosis. Regulates GH1 release by brain neurons. Phosphorylates NSF, and thereby regulates NSF oligomerization. Required for normal spermatogenesis. Regulates neuron differentiation and dendrite development (By similarity). Plays a role in the regulation of insulin secretion in response to changes in blood glucose levels. Can phosphorylate CCNY at 'Ser-336' (in vitro)., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It may play a role in signal transduction cascades in terminally differentiated cells; in exocytosis; and in transport of secretory cargo from the endoplasmic reticulum. This gene is thought to escape X inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2009]., [RefSeq]; The roles, molecular interactions, and therapeutic value of CDK16 in human cancers. 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": 34, "reported_mutagensis": 6, "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": "A8K280;B7Z7C8;J3KN74;J3KQP7", "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:0004693 cyclin-dependent protein serine/threonine kinase activity;GO:0106310 protein serine kinase activity;GO:0019902 phosphatase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0007283 spermatogenesis;GO:0031175 neuron projection development;GO:0010508 positive regulation of autophagy;GO:0061178 regulation of insulin secretion involved in cellular response to glucose stimulus", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q00536-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5P4-1", "uniprot_id": [ { "id": "CERT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5P4", "type": "external" } ], "mass": 70835.0, "length": 624, "protein_name": "Ceramide transfer protein", "gene_name": "CERT1", "organism": "Human", "refseq_name": "ceramide transfer protein isoform 3", "refseq_ac": [ { "id": "NP_001123577", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123577", "type": "external" } ], "gene_names_uniprotkb": "CERT1; CERT; COL4A3BP; STARD11", "gene_names_refseq": "CERT1; CERTL; CERT; COL4A3BP; GPBP; MRD34; NEDHSF; STARD11", "protein_names_uniprotkb": "Ceramide transfer protein; Collagen type IV alpha-3-binding protein; GPBP; Goodpasture antigen-binding protein; START domain-containing protein 11; StAR-related lipid transfer protein 11; StARD11; hCERT", "protein_names_refseq": "StAR-related lipid transfer (START) domain containing 11; ceramide transfer protein isoform 3; ceramide transfer protein; collagen type IV alpha 3 binding protein; collagen, type IV, alpha 3 (Goodpasture antigen) binding protein; lipid-transfer protein CERTL", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 34 (Disease Ontology:DOID:0070064); cataract 33 (Disease Ontology:DOID:0110264)", "pathway": " (hsa:10087)", "pathway_count": 1, "publication_count": 77, "publication_id_list": "10212244;11007769;11237011;14685229;15596449;16895911;17081983;17392267;17591919;18184806;18669648;19005213;19651622;20036255;20068231;23033978;23186163;24569996;24714562;25356899;25533962;25576301;25889812;26154972;26375851;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28832583;28834231;29242379;29393594;29437277;29493099;29541394;29557506;29632046;29769354;29858488;30315122;31154438;31844290;31848261;31998317;32157095;32161166;32357974;32488085;32502341;32897882;32938616;32983136;33043033;33298915;33537174;33592498;33691108;33717175;33912179;33968037;34185709;34357683;34688657;34932366;34947980;35051231;35251023;35409383;35580925;36010968;36241641;36976648;38110110", "class_list": "glycogene", "function": "CERT mediates the intracellular trafficking of ceramide in a non-vesicular manner, [RefSeq, PubMed]; CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. Erratum:[J Clin Invest. 2025 Nov 3;135(21):e200195. doi: 10.1172/JCI200195. PMID: 41178725] Publication Status: Online-Only, [RefSeq, PubMed]; Ceramide Transfer Protein (CERT): An Overlooked Molecular Player in Cancer. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution., [RefSeq, PubMed]; Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane., [UniProtKB, UniProtKB, UniProtKB]; Results indicate that CERT can mediate transfer of various types of ceramides that naturally exist and their close relatives, [RefSeq, PubMed]; Shelters ceramides inside its steroidogenic acute regulatory lipid transfer (START) domain and mediates their intracellular trafficking in a non-vesicular manner from the endoplasmic reticulum to the Golgi apparatus for conversion to sphingomyelin (PubMed:14685229, PubMed:15596449, PubMed:17392267, PubMed:17591919, PubMed:18184806, PubMed:20036255). Efficiently transfers ceramide molecules having long-chain fatty chains, but not those with very long acyl chains (PubMed:15596449, PubMed:18184806). Capable of transferring diacylglycerol, although with very low efficiency (PubMed:18184806)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The ceramide transport protein CERT is involved in alkylacylglycerol transfer from the ER to the Golgi for the biosynthesis of ether phospholipid., [RefSeq, PubMed]; This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three 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": 12, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 420, "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": "A8K7S2;B3KUB7;Q53YV1;Q53YV2;Q96Q85;Q96Q88;Q9H2S7;Q9H2S8", "ec_number_list": [], "go_molecular_function": "GO:0070273 phosphatidylinositol-4-phosphate binding;GO:0016301 kinase activity;GO:0097001 ceramide binding;GO:0120017 ceramide transfer activity;GO:1902387 ceramide 1-phosphate binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006686 sphingomyelin biosynthetic process;GO:0006955 immune response;GO:0030148 sphingolipid biosynthetic process;GO:0006672 ceramide metabolic process;GO:0035621 ER to Golgi ceramide transport", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9Y5P4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5H9R7-1", "uniprot_id": [ { "id": "PP6R3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5H9R7", "type": "external" } ], "mass": 97669.0, "length": 873, "protein_name": "Serine/threonine-protein phosphatase 6 regulatory subunit 3", "gene_name": "PPP6R3", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 6 regulatory subunit 3 isoform 4", "refseq_ac": [ { "id": "NP_001157632", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157632", "type": "external" } ], "gene_names_uniprotkb": "PPP6R3; C11orf23; KIAA1558; PP6R3; SAPL; SAPS3", "gene_names_refseq": "C11orf23; PP6R3; PPP6R3; SAP190; SAPLa; SAPL; SAPS3", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 6 regulatory subunit 3; SAPS domain family member 3; Sporulation-induced transcript 4-associated protein SAPL", "protein_names_refseq": "SAPS domain family, member 3; serine/threonine-protein phosphatase 6 regulatory subunit 3 isoform 4; serine/threonine-protein phosphatase 6 regulatory subunit 3; sporulation-induced transcript 4-associated protein SAPL", "tax_id": 9606, "disease": "", "pathway": " (hsa:55291); (R-HSA-171319); (R-HSA-204005)", "pathway_count": 3, "publication_count": 170, "publication_id_list": "10.1101/2023.09.13.557529;10445031;10559959;10679020;10747087;10788476;10825291;10903204;10982397;11035026;11237011;11285137;11306556;11401438;11927603;12070132;12235121;12699629;15037235;15060173;15189140;16303754;16339074;16495487;16522649;16624868;16769727;16912714;16964243;17005010;17038314;17081983;17172855;17192411;17287728;17316621;17395830;17562788;17684057;18186651;18358808;18523010;18669648;18691976;18843296;19164740;19179534;19369195;19383767;19638414;19656848;19690332;19734544;20068231;20404094;20524933;20545907;20679433;20966969;21406692;21478858;21532587;21689688;22013193;22157747;22579284;22675024;22898188;23103865;23186163;23301498;23378591;23479643;23481700;23657261;23698585;23864707;24119662;24275569;24715725;24917561;25128433;25202031;25271372;25406594;25418920;25492864;25576301;25586378;25619252;25620558;25645385;25892735;26154972;26811146;26992070;27600516;27846572;27920218;28063628;28228285;28510447;28649982;28832583;28834231;28893231;28904123;29178645;29242379;29393594;29508533;29550802;29557506;29632046;29632711;29671580;29695869;29769354;29786170;29789417;30315122;30379171;30410026;30524438;31723267;31844290;31904830;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;34932366;35051231;35494241;35561310;35580925;36010968;36215666;36241641;36284347;37938771;40914422;8221884;8620540;8663406;9094723;9150144;9177194;9307973;9647643", "class_list": "", "function": "Protein phosphatase regulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS3 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. May have an important role in maintaining immune self-tolerance., [UniProtKB, PubMed, PubMed]; The substitution of Ala in nine putative phosphorylation sites in SAPS3 was required to prevent CK2 activation of the phosphatase. Different CK2 chemical inhibitors equally increased phosphorylation of endogenous AURKA in living cells, consistent with reduction in PP6 activity., [RefSeq, PubMed]; We found a DPP9-PPP6R3 fusion transcript in one tumor showing a matching genomic 11;19-translocation. Another tumor had a rearrangement of DPP9 with PLIN3. Both rearrangements were associated with diminished expression of the 3' end of DPP9 corresponding to the breakpoints identified by RNA-seq. 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": 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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 18, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q3B7I1;Q3I4Y0;Q3KR35;Q68CR3;Q7L4R8;Q8N3B2;Q96MB2;Q9H2K5;Q9H2K6;Q9HCL4;Q9NUY3", "ec_number_list": [], "go_molecular_function": "GO:0019888 protein phosphatase regulator activity;GO:0019903 protein phosphatase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0009966 regulation of signal transduction;GO:0006516 glycoprotein catabolic process", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "Q5H9R7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96K21-1", "uniprot_id": [ { "id": "ANCHR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96K21", "type": "external" } ], "mass": 51546.0, "length": 471, "protein_name": "Abscission/NoCut checkpoint regulator", "gene_name": "ZFYVE19", "organism": "Human", "refseq_name": "abscission/NoCut checkpoint regulator isoform 1", "refseq_ac": [ { "id": "NP_001070736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070736", "type": "external" } ], "gene_names_uniprotkb": "ZFYVE19; ANCHR; MPFYVE", "gene_names_refseq": "ANCHR; MPFYVE; PFIC9; ZFYVE19", "protein_names_uniprotkb": "Abscission/NoCut checkpoint regulator; ANCHR; MLL partner containing FYVE domain; Zinc finger FYVE domain-containing protein 19", "protein_names_refseq": "MLL partner containing FYVE domain; abscission/NoCut checkpoint regulator isoform 1; abscission/NoCut checkpoint regulator; zinc finger FYVE domain-containing protein 19; zinc finger, FYVE domain containing 19", "tax_id": 9606, "disease": "progressive familial intrahepatic cholestasis (Disease Ontology:DOID:0070221); cholestasis, progressive familial intrahepatic, 9 (MONDO:MONDO:0030800)", "pathway": " (hsa:84936)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;12618766;17322306;17525332;18318008;18452278;18491316;18510355;18669648;18767875;19007248;19367720;19413330;19415658;19651622;19664994;19690332;20068231;20166139;20187088;21406692;23186163;24275569;24814515;25218447;29351928;29485866;30059200;31373491;31492838;31844290;31848261;32574038;32737136;32938616;33853651;34019948;34087483;35051231;38816193;40307207", "class_list": "", "function": "Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis., [RefSeq, PubMed]; In a transcript from a patient with AML-M2, MLL is fused to a novel gene: MLL partner containing FYVE domain (MPFYVE). MPFYVE is also located on chromosome 15, about 170 kb telomeric to AF15q14. MPFYVE contains the highly conserved FYVE domain. [MPFYVE], [RefSeq, PubMed]; Key regulator of abscission step in cytokinesis: part of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage. Together with CHMP4C, required to retain abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis. Deactivation of AURKB results in dephosphorylation of CHMP4C followed by its dissociation from ZFYVE19/ANCHR and VPS4 and subsequent abscission., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Propose that the abscission checkpoint is mediated by ANCHR and CHMP4C through retention of VPS4 at the midbody ring., [RefSeq, PubMed]; ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death. 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": 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": 6, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B3KVB2;C9JNF4;H3BUF9;Q86WC2;Q8WU96", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0032266 phosphatidylinositol-3-phosphate binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005813 centrosome;GO:0032154 cleavage furrow;GO:0030496 midbody;GO:0090543 Flemming body", "go_biological_process": "GO:0032466 negative regulation of cytokinesis;GO:0044878 mitotic cytokinesis checkpoint signaling;GO:0061952 midbody abscission;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q96K21-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UK58-1", "uniprot_id": [ { "id": "CCNL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UK58", "type": "external" } ], "mass": 59634.0, "length": 526, "protein_name": "Cyclin-L1", "gene_name": "CCNL1", "organism": "Human", "refseq_name": "cyclin-L1 isoform 2", "refseq_ac": [ { "id": "NP_001295114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295114", "type": "external" } ], "gene_names_uniprotkb": "CCNL1; BM-001; PRO1073", "gene_names_refseq": "ANIA6A; BM-001; CCNL1; PRO1073; ania-6a", "protein_names_uniprotkb": "Cyclin-L1; Cyclin-L", "protein_names_refseq": "cyclin L ania-6a; cyclin L gamma; cyclin-L1 isoform 2; cyclin-L", "tax_id": 9606, "disease": "", "pathway": " (hsa:57018)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "11237011;11980906;12414649;12975309;15302935;15700036;17081983;17322306;18216018;18220336;18452278;18578522;18669648;18767875;19007248;19413330;19415658;19651622;19664995;19690332;20058876;20068231;21406692;23186163;23481700;24029068;24275569;24715725;25755297;25892735;26154972;26811146;26992070;27920218;28228285;28510447;29242379;29393594;29493099;29557506;29632046;29769354;30315122;30484775;30833945;31154438;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32938616;33214551;33298915;33717175;33968037;34019948;34509645;35051231;35260070;36241641;36278408;37217939;38059508;41348282;41350704", "class_list": "", "function": "MiR-5195-3p functions as a tumor suppressor in prostate cancer via targeting CCNL1. Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory component of the cyclin-L-CDK11 complex that regulates transcription and pre-mRNA splicing (PubMed:11980906, PubMed:18216018, PubMed:38059508). Inhibited by the CDK-specific inhibitor CDKN1A/p21 (PubMed:11980906). May be a candidate proto-oncogene in head and neck squamous cell carcinomas (HNSCC) (PubMed:12414649, PubMed:15700036)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Role in pre-mRNA splicing GeneRIF: Cyclin L has been shown to associate with the PITSLRE kinase and is involved in pre-mRNA processing., [RefSeq, PubMed]; SCF[FBXW7] regulates G2-M progression through control of CCNL1 ubiquitination., [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": 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": "B3KMY3;C9JPL0;Q6NVY9;Q6UWS7;Q8NI48;Q96QT0;Q9NZF3", "ec_number_list": [], "go_molecular_function": "GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0016604 nuclear body;GO:0180038 cyclin L-CDK11 complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q9UK58-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5X3-1", "uniprot_id": [ { "id": "SNX5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5X3", "type": "external" } ], "mass": 46816.0, "length": 404, "protein_name": "Sorting nexin-5", "gene_name": "SNX5", "organism": "Human", "refseq_name": "sorting nexin-5 isoform a", "refseq_ac": [ { "id": "NP_055241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055241", "type": "external" } ], "gene_names_uniprotkb": "SNX5", "gene_names_refseq": "SNX5", "protein_names_uniprotkb": "Sorting nexin-5", "protein_names_refseq": "sorting nexin-5 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:27131); (R-HSA-432722)", "pathway_count": 2, "publication_count": 126, "publication_id_list": "10394364;11237011;11485546;11590181;11604418;11694590;11994746;15004565;15102850;15226359;15561769;16155256;16857196;16968745;17116749;17148574;18596235;18854019;18991276;19608861;19619496;20068231;21048941;21136679;22223895;23085988;23186163;23301498;23481700;23602387;24610942;24714562;24715725;25576301;25645385;25802875;25880248;25892735;26154972;26375851;26728094;26992070;27397612;27543614;27600516;27846572;27862975;27893789;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30379171;30410026;30419003;30524438;30779550;30833945;31154438;31217245;31222486;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34357683;34405274;34509645;34561969;34932366;35008409;35051231;35251023;35318648;35561310;35580925;36010968;36241641;36284347;36528556;36581221;36977596;38665916;39073202;39448266;40596516;8374173;8524399;8670264", "class_list": "", "function": "Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) (PubMed:15561769). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called endosome-to-TGN transport carrier (ETC) (Probable). Does not have in vitro vesicle-to-membrane remodeling activity (PubMed:23085988). Involved in retrograde transport of lysosomal enzyme receptor IGF2R (PubMed:17148574, PubMed:18596235). May function as link between endosomal transport vesicles and dynactin (Probable). Plays a role in the internalization of EGFR after EGF stimulation (Probable). Involved in EGFR endosomal sorting and degradation; the function involves PIP5K1C isoform 3 and is retromer-independent (PubMed:23602387). Together with PIP5K1C isoform 3 facilitates HGS interaction with ubiquitinated EGFR, which initiates EGFR sorting to intraluminal vesicles (ILVs) of the multivesicular body for subsequent lysosomal degradation (Probable). Involved in E-cadherin sorting and degradation; inhibits PIP5K1C isoform 3-mediated E-cadherin degradation (PubMed:24610942). Plays a role in macropinocytosis (PubMed:18854019, PubMed:21048941)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Overexpression of lncRNA HOXA-AS2 promotes the progression of oral squamous cell carcinoma by mediating SNX5 expression. Publication Status: Online-Only, [RefSeq, PubMed]; SNX5 and SNX6 may constitute functional equivalents of Vps17p in mammalian retromer, [RefSeq, PubMed]; SNX5 is localized to a subdomain of the early endosomes and is recruited to the cell membrane following EGF stimulation., [RefSeq, PubMed]; SNX5 promotes antigen presentation in B cells by dual regulation of actin and lysosomal dynamics. Publication Status: Online-Only, [RefSeq, PubMed]; The association of lipid transfer protein VPS13A with endosomes is mediated by sorting nexin SNX5. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein functions in endosomal sorting, the phosphoinositide-signaling pathway, and macropinocytosis. This gene may play a role in the tumorigenesis of papillary thyroid carcinoma. Alternative splicing results in multiple transcript variants encoding different isoforms. [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": 6, "reported_mutagensis": 8, "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": "B7ZKN3;D3DW26;Q52LC4;Q7KZN0;Q9BWP0", "ec_number_list": [], "go_molecular_function": "GO:0010314 phosphatidylinositol-5-phosphate binding;GO:0045296 cadherin binding;GO:0080025 phosphatidylinositol-3,5-bisphosphate binding;GO:0070273 phosphatidylinositol-4-phosphate binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0001891 phagocytic cup;GO:0005768 endosome;GO:0005829 cytosol;GO:0005903 brush border;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016241 regulation of macroautophagy;GO:0045776 negative regulation of blood pressure;GO:0045893 positive regulation of DNA-templated transcription;GO:0042147 retrograde transport, endosome to Golgi", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q9Y5X3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRW1-1", "uniprot_id": [ { "id": "RAB6B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRW1", "type": "external" } ], "mass": 23462.0, "length": 208, "protein_name": "Ras-related protein Rab-6B", "gene_name": "RAB6B", "organism": "Human", "refseq_name": "ras-related protein Rab-6B isoform 1", "refseq_ac": [ { "id": "NP_057661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057661", "type": "external" } ], "gene_names_uniprotkb": "RAB6B", "gene_names_refseq": "RAB6B", "protein_names_uniprotkb": "Ras-related protein Rab-6B; 3.6.5.2", "protein_names_refseq": "ras-related protein Rab-6B isoform 1; ras-related protein Rab-6B; small GTP-binding protein; small GTPase RAB6B", "tax_id": 9606, "disease": "retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:51560); (R-HSA-6811436); (R-HSA-6811440); (R-HSA-8854214); (R-HSA-8873719); (R-HSA-8876198)", "pathway_count": 6, "publication_count": 326, "publication_id_list": "10202141;10209123;10359595;10445031;10559959;10559986;10562278;10637310;10818110;10865125;10893188;10990452;11038176;11080672;11141079;11179213;11237011;11303027;11346801;11359012;11389151;11447212;11483508;11516400;11675392;11689439;11703925;11746448;11784320;11827983;11839770;11917121;12058051;12070132;12221131;12244319;12364329;12377769;12401177;12427552;12432908;12447383;12475894;12620188;12620189;12684051;12925777;12944476;12972505;14580338;14718928;15029241;15037235;15077113;15077114;15096524;15128430;15138286;1516130;15247254;15269279;15388334;15483056;15528189;15561770;15654769;15692570;15758030;15870108;15878329;15914536;15958533;16042553;16055087;16129887;16207721;16314391;16373702;16395330;16401880;16410077;1648736;16525024;16525121;16571673;16571679;16641372;16754960;16790928;16880209;16885419;16912714;16936697;16950109;17043139;17114793;17132146;17189207;17208202;17239822;17287728;17411337;17451557;17488286;17488291;17562788;17574030;17646400;17658474;17671165;17678623;17684057;17698061;17707369;17827179;17901050;18044744;18076383;18094055;18195106;18199687;18243103;18256213;18319245;18354496;18367545;1845915;18466115;18477474;18532927;18559336;18585354;18641641;18664496;18701652;18779367;18804435;18946081;1900457;19109890;19164740;19345684;19403694;19490898;19603039;19620288;19635840;19656848;19725050;19729655;19745841;19753100;20008558;20095038;20116244;20154091;20159109;20159556;20305638;20308558;20363736;20404108;20420828;20434987;20592283;20685960;20797862;20851765;20937701;21041651;2115402;21173190;21183348;21187289;21216617;21273506;21330364;21383079;21421921;21436057;21445324;21458671;21532587;21554507;21586568;21683469;21689688;21706022;21718402;21776405;21807881;21822290;21951725;22013193;22065758;22072793;22130221;22171327;22219378;22335553;22354037;22365832;22433857;22511774;22562055;22581368;22595670;22613832;22622570;22648168;22653444;22694141;22705394;22717455;22762500;22795129;22854040;22908308;22983554;23019362;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23437303;23444368;23478338;23562278;23645161;23678941;23684622;23713133;23737971;23783758;23839779;24023390;24296415;24644286;24694596;24719330;24794632;24891604;24917561;24967941;25074980;25233431;25341920;25343031;25453831;25472813;25492866;25648148;25713415;25925668;26055712;26177209;26209634;26245486;26434594;26538022;26925400;26936971;26969162;27041585;27044746;27103185;27246931;27329675;27726376;28467828;29314611;31217245;32157095;32938616;33043033;33214551;33298915;33592498;34019948;34357683;35251023;36580660;7688123;7909812;7911226;7957092;7991565;8144603;8164745;8221884;8349690;8375503;8408203;8440258;8513495;8522602;8620540;8631982;8636227;8662963;8670882;8836150;8863739;9020086;9020161;9030196;9030515;9050864;9136770;9177194;9230071;9323142;9590177;9671731;9733780", "class_list": "", "function": "Conformational changes in human neuronal Rab6B between its inactive GDP and active GTP-like state are observed mainly in the switch I and switch II regions, confirming their role as a molecular switch., [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 active GTP-bound and inactive GDP-bound states. In their active state, drive transport of vesicular carriers from donor organelles to acceptor organelles to regulate the membrane traffic that maintains organelle identity and morphology (By similarity). Recruits VPS13B to the Golgi membrane (PubMed:25492866). Regulates the compacted morphology of the Golgi (PubMed:26209634). Seems to have a role in retrograde membrane traffic at the level of the Golgi complex. May function in retrograde transport in neuronal cells (PubMed:17707369). Plays a role in neuron projection development (PubMed:25492866)., [UniProtKB, PubMed, 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": 0, "reported_mutagensis": 2, "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": "B2R5Z9;B7Z337;D3DND3;Q92929", "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": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.4.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.41", "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:0046872 metal ion binding;GO:0031489 myosin V binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0012505 endomembrane system;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0031175 neuron projection development;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0042147 retrograde transport, endosome to Golgi;GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 32.9, "record_id": "Q9NRW1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UIV1-1", "uniprot_id": [ { "id": "CNOT7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UIV1", "type": "external" } ], "mass": 32745.0, "length": 285, "protein_name": "CCR4-NOT transcription complex subunit 7", "gene_name": "CNOT7", "organism": "Human", "refseq_name": "CCR4-NOT transcription complex subunit 7 isoform 2", "refseq_ac": [ { "id": "NP_001309016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309016", "type": "external" } ], "gene_names_uniprotkb": "CNOT7; CAF1", "gene_names_refseq": "CAF-1; CAF1; CNOT7; Caf1a; hCAF-1", "protein_names_uniprotkb": "CCR4-NOT transcription complex subunit 7; 3.1.13.4; BTG1-binding factor 1; CAF-1; CCR4-associated factor 1; Caf1a", "protein_names_refseq": "BTG1-binding factor 1; CCR4-NOT transcription complex subunit 7 isoform 2; CCR4-associated factor 1; carbon catabolite repressor protein (CCR4)-associative factor 1", "tax_id": 9606, "disease": "heart disease (Disease Ontology:DOID:114); male infertility (Disease Ontology:DOID:12336)", "pathway": " (hsa:29883); (R-HSA-429947); (R-HSA-6804115); (R-HSA-9820841)", "pathway_count": 4, "publication_count": 91, "publication_id_list": "10637334;10882133;11237011;11283721;11814693;11889047;11896574;12897130;1355481;14583602;14749774;14968113;15475613;15713436;15769875;16140933;16141059;16160013;16284618;17052452;17146433;17245413;17595167;18337750;18625844;19239894;19276069;19558367;19605561;20065043;20352051;20531387;20634287;21336257;22252318;22977175;23236473;23386060;24366607;25106868;25480299;26154972;26992070;27846572;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29557506;29632046;29632711;29769354;30315122;30520513;30524438;30779550;31154438;31439799;31530632;31844290;31848261;32387766;32502341;32502391;33141586;33392160;33717175;33912179;33936100;33968037;33981976;34019948;34038562;34647228;35318648;35580925;36241641;36284347;36581221;37938771;38772212;40914422;8944033;9099687;9184226;9671765;9712883;9820826", "class_list": "", "function": "CNOT7 is an antimicrobial protein and a regulator of the innate immune response., [RefSeq, PubMed]; CNOT7 regulates lipid deposition in nonalcoholic fatty liver disease., [RefSeq, PubMed]; Crystal structure and functional properties of the human CCR4-CAF1 deadenylase complex., [RefSeq, PubMed]; Has 3'-5' poly(A) exoribonuclease activity for synthetic poly(A) RNA substrate (PubMed:19276069, PubMed:20634287, PubMed:31439799). Its function seems to be partially redundant with that of CNOT8 (PubMed:19605561). Catalytic component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation (PubMed:19276069, PubMed:20634287, PubMed:31439799). During miRNA-mediated repression the complex also seems to act as translational repressor during translational initiation (PubMed:20065043). Additional complex functions may be a consequence of its influence on mRNA expression (PubMed:19276069, PubMed:23236473). Associates with members of the BTG family such as TOB1 and BTG2 and is required for their anti-proliferative activity (PubMed:19276069, PubMed:23236473)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene binds to an anti-proliferative protein, B-cell translocation protein 1, which negatively regulates cell proliferation. Binding of the two proteins, which is driven by phosphorylation of the anti-proliferative protein, causes signaling events in cell division that lead to changes in cell proliferation associated with cell-cell contact. The encoded protein downregulates the innate immune response and therefore provides a therapeutic target for enhancing its antimicrobial activity against foreign agents. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and X. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 10, "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": "A8MZM5;B3KMP1;B3KN35;D3DSP6;G3V108;Q7Z530", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.13.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.4", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0003714 transcription corepressor activity;GO:0000175 3'-5'-RNA exonuclease activity;GO:0004532 RNA exonuclease activity;GO:0004535 poly(A)-specific ribonuclease activity", "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:0006351 DNA-templated transcription;GO:0006417 regulation of translation;GO:0008284 positive regulation of cell population proliferation;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q9UIV1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P60604-1", "uniprot_id": [ { "id": "UB2G2_HUMAN", "url": "https://www.uniprot.org/uniprot/P60604", "type": "external" } ], "mass": 18566.0, "length": 165, "protein_name": "Ubiquitin-conjugating enzyme E2 G2", "gene_name": "UBE2G2", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 G2 isoform 3", "refseq_ac": [ { "id": "NP_001189418", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189418", "type": "external" } ], "gene_names_uniprotkb": "UBE2G2; UBC7", "gene_names_refseq": "UBC7; UBE2G2", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 G2; 2.3.2.23; E2 ubiquitin-conjugating enzyme G2; Ubiquitin carrier protein G2; Ubiquitin-protein ligase G2", "protein_names_refseq": "E2 ubiquitin-conjugating enzyme G2; ubiquitin carrier protein G2; ubiquitin conjugating enzyme 7; ubiquitin conjugating enzyme G2; ubiquitin-conjugating enzyme E2 G2 isoform 3; ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast); ubiquitin-conjugating enzyme E2G 2 (homologous to yeast UBC7); ubiquitin-protein ligase G2", "tax_id": 9606, "disease": "", "pathway": " (hsa:7327); (R-HSA-8866652); (R-HSA-983168)", "pathway_count": 3, "publication_count": 74, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16142244;16582478;16595681;16849449;16954532;17580310;17597759;18353650;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;20061386;21127063;21857022;22607976;2261476;23223569;24366607;25418920;25576301;26154972;26235645;27600516;27846572;27862975;28228285;28743740;28832583;28834231;29242379;29557506;29632046;29632711;29769354;30429286;31530632;31844290;31848261;31998317;32157095;32265295;32350084;32983136;33392160;33592498;33936100;33968037;34357683;34879065;35051231;35580925;36241641;38787820;6277905;6305978;7851534;8010951;9380723;9521656;9668046;9693041", "class_list": "", "function": "A structurally conserved site in AUP1 binds the E2 enzyme UBE2G2 and is essential for ER-associated degradation. Publication Status: Online-Only, [RefSeq, PubMed]; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins (PubMed:20061386). In vitro catalyzes 'Lys-48'-linked polyubiquitination (PubMed:20061386). Involved in endoplasmic reticulum-associated degradation (ERAD) (PubMed:22607976). Required for sterol-induced ubiquitination of 3-hydroxy-3-methylglutaryl coenzyme A reductase and its subsequent proteasomal degradation (PubMed:23223569)., [UniProtKB, PubMed, PubMed, PubMed]; Proinsulin degradation and presentation of a proinsulin B-chain autoantigen involves ER-associated protein degradation (ERAD)-enzyme UBE2G2. 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. The encoded protein shares 100% sequence identity with the mouse counterpart. This gene is ubiquitously expressed, with high expression seen in adult muscle. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]., [RefSeq]; UBE2G2 was crucial for the degradation of various immunoreceptors. UBE2J2, on the other hand, counteracted US2-induced endoplasmic reticulum-associated protein degradation by downregulating TRC8 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": 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": "A6NMQ7;A8K3L4;D3DSL7;P56554", "ec_number_list": [ { "id": "6.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.45", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "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": "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": "2.3.2.36", "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:0005524 ATP binding;GO:0042802 identical protein binding;GO:0004842 ubiquitin-protein transferase activity;GO:0061631 ubiquitin conjugating enzyme activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005811 lipid droplet;GO:0005829 cytosol", "go_biological_process": "GO:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0036503 ERAD pathway;GO:0070936 protein K48-linked ubiquitination;GO:0035458 cellular response to interferon-beta", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "P60604-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UMZ2-1", "uniprot_id": [ { "id": "SYNRG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UMZ2", "type": "external" } ], "mass": 140654.0, "length": 1314, "protein_name": "Synergin gamma", "gene_name": "SYNRG", "organism": "Human", "refseq_name": "synergin gamma isoform 4", "refseq_ac": [ { "id": "NP_001157016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157016", "type": "external" } ], "gene_names_uniprotkb": "SYNRG; AP1GBP1; SYNG", "gene_names_refseq": "AP1GBP1; SYNG; SYNRG", "protein_names_uniprotkb": "Synergin gamma; AP1 subunit gamma-binding protein 1; Gamma-synergin", "protein_names_refseq": "AP1 gamma subunit binding protein 1; AP1 subunit gamma-binding protein 1; adaptor-related protein complex 1 gamma subunit-binding protein 1; gamma-synergin; synergin gamma isoform 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:11276)", "pathway_count": 1, "publication_count": 98, "publication_id_list": "10477754;10814529;11237011;12538641;14665628;15758025;17322306;18088087;18669648;18691976;18767875;19413330;19415658;19608861;19651622;19664994;19690332;19691289;20058876;20068231;21406692;23186163;23301498;23481700;24714562;24715725;25418920;25576301;25645385;25880248;26154972;26375851;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28397838;28657654;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30524438;30779550;30833945;31154438;31373491;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34185709;34932366;35051231;35090779;35318648;35561310;35580925;36010968;36241641;36284347;37938771;38665916;40307207", "class_list": "", "function": "Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia., [RefSeq, PubMed]; Plays a role in endocytosis and/or membrane trafficking at the trans-Golgi network (TGN) (PubMed:15758025). May act by linking the adapter protein complex AP-1 to other proteins (Probable). Component of clathrin-coated vesicles (PubMed:15758025). Component of the aftiphilin/p200/gamma-synergin complex, which plays roles in AP1G1/AP-1-mediated protein trafficking including the trafficking of transferrin from early to recycling endosomes, and the membrane trafficking of furin and the lysosomal enzyme cathepsin D between the trans-Golgi network (TGN) and endosomes (PubMed:15758025)., [UniProtKB, PubMed, PubMed]; This gene encodes a protein that interacts with the gamma subunit of AP1 clathrin-adaptor complex. The AP1 complex is located at the trans-Golgi network and associates specific proteins with clathrin-coated vesicles. This encoded protein may act to connect the AP1 complex to other proteins. 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": 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": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8MWU4;B7ZKZ2;B7ZKZ3;Q17RI2;Q5BKU5;Q6ZT17", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0048471 perinuclear region of cytoplasm;GO:0030121 AP-1 adaptor complex;GO:0030130 clathrin coat of trans-Golgi network vesicle", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006897 endocytosis", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q9UMZ2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQ70-1", "uniprot_id": [ { "id": "TCF25_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQ70", "type": "external" } ], "mass": 76667.0, "length": 676, "protein_name": "Ribosome quality control complex subunit TCF25", "gene_name": "TCF25", "organism": "Human", "refseq_name": "ribosome quality control complex subunit TCF25", "refseq_ac": [ { "id": "NP_055787", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055787", "type": "external" } ], "gene_names_uniprotkb": "TCF25; FKSG26; KIAA1049; NULP1", "gene_names_refseq": "FKSG26; Hulp1; NULP1; PRO2620; TCF25; hKIAA1049", "protein_names_uniprotkb": "Ribosome quality control complex subunit TCF25; Nuclear localized protein 1; TCF-25; Transcription factor 25", "protein_names_refseq": "TCF-25; nuclear localized protein 1; ribosome quality control complex subunit TCF25; transcription factor 25 (basic helix-loop-helix)", "tax_id": 9606, "disease": "", "pathway": " (hsa:22980); (R-HSA-9954709)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "11237011;16574069;17697703;18068114;18669648;18991276;19651622;19851296;20068231;22424782;22898188;23186163;23481700;23685075;24366607;24715725;25132172;25418920;25576301;25578875;25645385;25880248;25892735;26154972;26375851;26992070;27600516;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29485866;29493099;29508533;29557506;29632046;29632312;29632711;29769354;29786170;29789417;30244831;30315122;30410026;30484775;30524438;30779550;30833945;31011209;31154438;31217245;31530632;31844290;31848261;31937595;32157095;32161166;32357974;32387766;32488085;32502341;32805187;32897882;32938616;32983136;33141586;33298915;33392160;33406423;33537174;33592498;33691108;33717175;33909987;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37676773;37938771;39894887", "class_list": "", "function": "Component of the ribosome quality control complex (RQC), a ribosome-associated complex that mediates ubiquitination and extraction of incompletely synthesized nascent chains for proteasomal degradation (PubMed:30244831). In the RQC complex, required to promote formation of 'Lys-48'-linked polyubiquitin chains during ubiquitination of incompletely synthesized proteins by LTN1 (PubMed:30244831). May negatively regulate the calcineurin-NFAT signaling cascade by suppressing the activity of transcription factor NFATC4 (By similarity). May play a role in cell death control (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Hnulp1 may act as a novel transcriptional repressor in serum response factor signaling pathways., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008]., [RefSeq]; These results indicate that Nulp1 plays a role in cell death control and may influence tumor growth., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2MK75;Q9UPV3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:1990112 RQC complex", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0006351 DNA-templated transcription;GO:1990116 ribosome-associated ubiquitin-dependent protein catabolic process;GO:0061945 regulation of protein K48-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q9BQ70-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BV35-1", "uniprot_id": [ { "id": "SCMC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BV35", "type": "external" } ], "mass": 52378.0, "length": 468, "protein_name": "Mitochondrial adenyl nucleotide antiporter SLC25A23", "gene_name": "SLC25A23", "organism": "Human", "refseq_name": "mitochondrial adenyl nucleotide antiporter SLC25A23", "refseq_ac": [ { "id": "NP_077008", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077008", "type": "external" } ], "gene_names_uniprotkb": "SLC25A23; APC2; MCSC2; SCAMC3", "gene_names_refseq": "APC2; MCSC2; SCAMC3; SCaMC-3; SLC25A23", "protein_names_uniprotkb": "Mitochondrial adenyl nucleotide antiporter SLC25A23; Mitochondrial ATP-Mg/Pi carrier protein 2; SCaMC-3; Short calcium-binding mitochondrial carrier protein 3; Solute carrier family 25 member 23", "protein_names_refseq": "calcium-binding mitochondrial carrier protein SCaMC-3; mitochondrial ATP-Mg/Pi carrier protein 2; mitochondrial Ca(2+)-dependent solute carrier protein 2; mitochondrial Ca2+-dependent solute carrier protein 2; mitochondrial adenyl nucleotide antiporter SLC25A23; phosphate carrier), member 23; short calcium-binding mitochondrial carrier 3; short calcium-binding mitochondrial carrier protein 3; small calcium-binding mitochondrial carrier protein 3; solute carrier family 25 (mitochondrial carrier", "tax_id": 9606, "disease": "", "pathway": " (hsa:79085)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;15054102;15123600;15716113;15801905;20877624;24430870;25418920;27993893;28218747;28695448;28832583;28904123;29437277;29557506;30379171;31154438;31844290;32157095;32938616;33298915;33968037;34087483;35580925", "class_list": "", "function": "Direct measurements of Mg(2+), Mn(2+), Fe(2+), Zn(2+) and Cu(2+) showed that they are cotransported with ATP by both hAPCs and AtAPCs. It is likely that in vivo APCs transport free ATP and ATP-Mg complex to different degrees, and probably trace amounts of other Metals(2+) in complex with ATP., [RefSeq, PubMed]; Electroneutral antiporter that mediates the transport of adenine nucleotides through the inner mitochondrial membrane. Originally identified as an ATP-magnesium/inorganic phosphate antiporter, it also acts as a broad specificity adenyl nucleotide antiporter. By regulating the mitochondrial matrix adenine nucleotide pool could adapt to changing cellular energetic demands and indirectly regulate adenine nucleotide-dependent metabolic pathways (PubMed:15123600). Also acts as a regulator of mitochondrial calcium uptake and can probably transport trace amounts of other divalent metal cations in complex with ATP (PubMed:24430870, PubMed:28695448). In vitro, a low activity is also observed with guanyl and pyrimidine nucleotides (PubMed:15123600)., [UniProtKB, PubMed, PubMed, PubMed]; Identification of three isoforms of the mitochondrial ATP-Mg/Pi carrier APC1, APC2 and APC3; they are most likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria, [RefSeq, PubMed]; Northern blot analysis reveals the presence of the transcript in brain, heart, skeletal muscle, liver and small intestine. The SLC25A23 gene undergoes alternative splicing suggesting a modular nature of the encoded product., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Our results showed EZH2 to be highly overexpressed in astrocytic tumors with a significant positive correlation with grade.we identified SLC25A23 as important target of H3K27me3 modification, which was downregulated in GBM and its low expression was associated with poor prognosis in glioblastomas (GBMs)., [RefSeq, PubMed]; SCaMC-3 is a member of a novel human subfamily of mitochondrial carriers with calcium-binding domains, [RefSeq, PubMed]; SLC25A23 augments mitochondrial Ca(2) uptake, interacts with MCU, and induces oxidative stress-mediated cell death., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B4DGB6;Q4LBC2;Q705K3;Q86Y43;Q8N2N4;Q96NQ4", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0000295 adenine nucleotide transmembrane transporter activity;GO:0005347 ATP transmembrane transporter activity;GO:0140987 ATP:phosphate antiporter activity;GO:0140988 ADP:phosphate antiporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane", "go_biological_process": "GO:0006851 mitochondrial calcium ion transmembrane transport;GO:0015866 ADP transport;GO:0036444 calcium import into the mitochondrion;GO:0051561 positive regulation of mitochondrial calcium ion concentration;GO:0015867 ATP transport", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9BV35-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08AM6-1", "uniprot_id": [ { "id": "VAC14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08AM6", "type": "external" } ], "mass": 87973.0, "length": 782, "protein_name": "Protein VAC14 homolog", "gene_name": "VAC14", "organism": "Human", "refseq_name": "protein VAC14 homolog isoform 1", "refseq_ac": [ { "id": "NP_060522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060522", "type": "external" } ], "gene_names_uniprotkb": "VAC14; TAX1BP2; TRX", "gene_names_refseq": "ArPIKfyve; TAX1BP2; TRX; VAC14", "protein_names_uniprotkb": "Protein VAC14 homolog; Tax1-binding protein 2", "protein_names_refseq": "Vac14, PIKFYVE complex component; protein VAC14 homolog isoform 1; protein VAC14 homolog", "tax_id": 9606, "disease": "striatonigral degeneration (Disease Ontology:DOID:4751); striatonigral degeneration, childhood-onset (MONDO:MONDO:0014889)", "pathway": " (hsa:55697); (R-HSA-1660514); (R-HSA-1660516); (R-HSA-1660517)", "pathway_count": 4, "publication_count": 117, "publication_id_list": "10101268;10419465;10559940;10567352;10764818;10766823;10805725;10806194;11237011;11279162;11302699;11706043;11716755;11733541;11923287;12270933;12324459;12847286;12890864;14527956;14659893;14660569;14722070;15542851;15716355;1655747;16787938;17161399;17555535;17556371;17651088;18452278;18524850;18669648;18691976;18950639;19211563;19668216;20068231;21081650;22424782;23186163;23301498;23481700;23818870;24715725;25645385;25869668;26496610;26992070;27292112;27862975;27920218;28228285;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29786170;30315122;30429286;30484775;31154438;31217245;31844290;31848261;31937595;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33098764;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34171305;34185709;34211107;34405274;34509645;34554760;34561969;35051231;35318648;35494241;35580925;36010968;36215666;36284347;37247911;37938771;40307207;7608176;7628435;7761412;8611628;8634694;8999962;9148941;9295334;9405935;9516481;9878262", "class_list": "", "function": "Describe a novel interaction between the PDZ domain of nitric oxide synthase and Vac14, [RefSeq, PubMed]; Proximity Interactome Map of the Vac14-Fig4 Complex Using BioID., [RefSeq, PubMed]; Scaffold protein component of the PI(3,5)P2 regulatory complex which regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Pentamerizes into a star-shaped structure and nucleates the assembly of the complex. The pentamer binds a single copy each of PIKFYVE and FIG4 and coordinates both PIKfyve kinase activity and FIG4 phosphatase activity, being required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 5-phosphate (PtdIns(5)P) (PubMed:33098764). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes., [UniProtKB, PubMed, PubMed, PubMed]; TIG1 Inhibits the mTOR Signaling Pathway in Malignant Melanoma Through the VAC14 Protein., [RefSeq, PubMed]; The PIKfyve-associated hVac14 protein has a major role in activating PIKfyve and thereby regulating PtdIns(3,5)P(2) synthesis and endomembrane homeostasis in mammalian cells, [RefSeq, PubMed]; This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [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": 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": 8, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 18, "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": "B3KPJ5;B3KSM8;Q13174;Q6IA12;Q7L4Y1;Q9BW96;Q9H6V6", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0031902 late endosome membrane;GO:0031901 early endosome membrane;GO:0010008 endosome membrane;GO:0098830 presynaptic endosome", "go_biological_process": "GO:0007165 signal transduction;GO:0006661 phosphatidylinositol biosynthetic process;GO:0099149 regulation of postsynaptic neurotransmitter receptor internalization;GO:1903100 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate metabolic process", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "Q08AM6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y383-1", "uniprot_id": [ { "id": "LC7L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y383", "type": "external" } ], "mass": 46514.0, "length": 392, "protein_name": "Putative RNA-binding protein Luc7-like 2", "gene_name": "LUC7L2", "organism": "Human", "refseq_name": "putative RNA-binding protein Luc7-like 2 isoform 3", "refseq_ac": [ { "id": "NP_001231514", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231514", "type": "external" } ], "gene_names_uniprotkb": "LUC7L2; CGI-59; CGI-74", "gene_names_refseq": "CGI-59; CGI-74; LUC7B2; LUC7L2", "protein_names_uniprotkb": "Putative RNA-binding protein Luc7-like 2", "protein_names_refseq": "LUC7-like 2; putative RNA-binding protein Luc7-like 2 isoform 3; putative RNA-binding protein Luc7-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:100996928); (hsa:51631)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "11237011;17081983;17287340;17322306;17525332;18452278;18669648;18767875;19574390;19651622;20068231;21406692;22544926;23186163;23301498;23481700;25418920;26154972;26375851;26992070;27920218;28063628;28218747;28510447;28832583;28855257;29242379;29493099;29508533;29557506;29632046;29632711;29786170;30379171;30484775;30524438;31154438;31222486;31530632;31844290;31848261;32119511;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33717175;33852859;33852893;33936100;33968037;33981976;34019948;34087483;34211107;34509645;34932366;35051231;35138101;35318648;35580925;36010968;37217939;37938771;38477507;38665916;40914422", "class_list": "", "function": "Binds cAMP regulatory element DNA sequence. Plays a role in RNA splicing., [UniProtKB, UniProtKB]; Functional analyses of human LUC7-like proteins involved in splicing regulation and myeloid neoplasms., [RefSeq, PubMed]; Histone H3K9 Lactylation Confers Temozolomide Resistance in Glioblastoma via LUC7L2-Mediated MLH1 Intron Retention., [RefSeq, PubMed]; Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS., [RefSeq, PubMed]; May bind to RNA via its Arg/Ser-rich domain., [UniProtKB]; This gene encodes a protein that contains a C2H2-type zinc finger, coiled-coil region and arginine, serine-rich (RS) domain. A similar protein in mouse interacts with sodium channel modifier 1, and the encoded protein may be involved in the recognition of non-consensus splice donor sites in association with the U1 snRNP spliceosomal subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [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": 23, "reported_mutagensis": 2, "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": "B7Z500;Q8IUP9;Q9NVL3;Q9NVN7;Q9UQN1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005685 U1 snRNP;GO:0016607 nuclear speck;GO:0071004 U2-type prespliceosome", "go_biological_process": "GO:0006376 mRNA splice site recognition", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q9Y383-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQC3-1", "uniprot_id": [ { "id": "RTN4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQC3", "type": "external" } ], "mass": 129931.0, "length": 1192, "protein_name": "Reticulon-4", "gene_name": "RTN4", "organism": "Human", "refseq_name": "reticulon-4 isoform E", "refseq_ac": [ { "id": "NP_001308788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308788", "type": "external" } ], "gene_names_uniprotkb": "RTN4; KIAA0886; My043; NOGO; SP1507", "gene_names_refseq": "ASY; NI220/250; NOGOA; NOGOB; NOGO; NSP-CL; NSP; Nbla00271; Nbla10545; RTN-X; RTN4-A; RTN4-B1; RTN4-B2; RTN4-C; RTN4", "protein_names_uniprotkb": "Reticulon-4; Foocen; NSP; Neurite outgrowth inhibitor; Neuroendocrine-specific protein C homolog; Neuroendocrine-specific protein; Nogo protein; RTN-x; Reticulon-5", "protein_names_refseq": "Human NogoA; My043 protein; foocen; neurite growth inhibitor 220; neurite outgrowth inhibitor; neuroendocrine-specific protein C homolog; reticulon 5; reticulon-4 isoform E", "tax_id": 9606, "disease": "hereditary spastic paraplegia 12 (Disease Ontology:DOID:0110765); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:57142); (R-HSA-193634)", "pathway_count": 2, "publication_count": 144, "publication_id_list": "10.1101/2023.09.13.557529;10667780;10667797;10773680;11126360;11201742;11237011;11866689;11891768;12426574;12488097;12692556;12811824;14966521;15034570;15286784;15345747;15498874;16095439;16835300;16877707;16959974;16965550;16979658;17081983;18452278;18491316;18578522;18669648;18691976;18707149;19007248;19052207;19413330;19608861;19651622;19664994;19665976;19699797;20058876;20068231;20230923;21183689;21406692;21654843;22028470;22223895;23186163;24262037;24715725;25418920;25502872;25576301;25612671;25810538;25880248;25892735;26154972;26853435;26906412;26992070;27452731;27600516;27619977;27786289;27846572;27862975;27920218;28121444;28228285;28510447;28514659;28832583;28904123;29242379;29493099;29557506;29632046;29786170;30315122;30429286;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31998317;32075961;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33043033;33214551;33298915;33465208;33592498;33633747;33691108;33717175;33826365;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34561969;34725712;34932366;35051231;35132862;35154160;35318648;35561310;35580925;36010968;36240223;36241641;36284347;36323241;36901909;37217939;37224043;37318453;37938771;38665916;38885889;39531497;40596516;40914422", "class_list": "", "function": "Association of Nogo-A Gene Polymorphisms with Cerebral Palsy in Southern China: A Case-Control Study., [RefSeq, PubMed]; Association of RTN4 indel polymorphisms with the risk of tumorigenesis in the Chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]; Developmental neurite growth regulatory factor with a role as a negative regulator of axon-axon adhesion and growth, and as a facilitator of neurite branching. Regulates neurite fasciculation, branching and extension in the developing nervous system. Involved in down-regulation of growth, stabilization of wiring and restriction of plasticity in the adult CNS (PubMed:10667797, PubMed:11201742). Regulates the radial migration of cortical neurons via an RTN4R-LINGO1 containing receptor complex (By similarity). Acts as a negative regulator of central nervous system angiogenesis. Inhibits spreading, migration and sprouting of primary brain microvascular endothelial cells (MVECs). Also induces the retraction of MVECs lamellipodia and filopodia in a ROCK pathway-dependent manner (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; How does Nogo-A signalling influence mitochondrial function during multiple sclerosis pathogenesis? Review article, [RefSeq, PubMed]; Mainly function in endothelial cells and vascular smooth muscle cells, is also involved in immune system regulation (Probable). Modulator of vascular remodeling, promotes the migration of endothelial cells but inhibits the migration of vascular smooth muscle cells. Regulates endothelial sphingolipid biosynthesis with direct effects on vascular function and blood pressure. Inhibits serine palmitoyltransferase, SPTLC1, the rate-limiting enzyme of the novo sphingolipid biosynthetic pathway, thereby controlling production of endothelial sphingosine-1-phosphate (S1P). Required to promote macrophage homing and functions such as cytokine/chemokine gene expression involved in angiogenesis, arteriogenesis and tissue repair. Mediates ICAM1 induced transendothelial migration of leukocytes such as monocytes and neutrophils and acute inflammation. Necessary for immune responses triggered by nucleic acid sensing TLRs, such as TLR9, is required for proper TLR9 location to endolysosomes. Also involved in immune response to LPS. Plays a role in liver regeneration through the modulation of hepatocytes proliferation (By similarity). Reduces the anti-apoptotic activity of Bcl-xl and Bcl-2. This is likely consecutive to their change in subcellular location, from the mitochondria to the endoplasmic reticulum, after binding and sequestration (PubMed:11126360). With isoform C, inhibits BACE1 activity and amyloid precursor protein processing (PubMed:16965550)., [UniProtKB, PubMed, UniProtKB, PubMed]; Nogo-A and LINGO-1: Two Important Targets for Remyelination and Regeneration. Review article Publication Status: Online-Only, [RefSeq, PubMed]; RTN3 and RTN4: Architects of SARS-CoV-2 replication organelles., [RefSeq, PubMed]; Regulates cardiomyocyte apoptosis upon hypoxic conditions (By similarity). With isoform B, inhibits BACE1 activity and amyloid precursor protein processing (PubMed:16965550)., [UniProtKB, PubMed, UniProtKB]; Required to induce the formation and stabilization of endoplasmic reticulum (ER) tubules (PubMed:24262037, PubMed:25612671, PubMed:27619977). They regulate membrane morphogenesis in the ER by promoting tubular ER production (PubMed:24262037, PubMed:25612671, PubMed:27619977, PubMed:27786289). They influence nuclear envelope expansion, nuclear pore complex formation and proper localization of inner nuclear membrane proteins (PubMed:26906412). However each isoform have specific functions mainly depending on their tissue expression specificities (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. The product of this gene is a potent neurite outgrowth inhibitor which may also help block the regeneration of the central nervous system in higher vertebrates. Alternatively spliced transcript variants derived both from differential splicing and differential promoter usage and encoding different isoforms have been identified. [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": 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": 28, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "O94962;Q7L7Q5;Q7L7Q6;Q7L7Q8;Q8IUA4;Q96B16;Q9BXG5;Q9H212;Q9H3I3;Q9UQ42;Q9Y293;Q9Y2Y7;Q9Y5U6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0031625 ubiquitin protein ligase binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005635 nuclear envelope;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0014069 postsynaptic density", "go_biological_process": "GO:2000347 positive regulation of hepatocyte proliferation;GO:1905523 positive regulation of macrophage migration;GO:0071786 endoplasmic reticulum tubular network organization;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 15.8, "record_id": "Q9NQC3-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3KRA9-1", "uniprot_id": [ { "id": "ALKB6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3KRA9", "type": "external" } ], "mass": 26483.0, "length": 238, "protein_name": "Probable RNA/DNA demethylase ALKBH6", "gene_name": "ALKBH6", "organism": "Human", "refseq_name": "probable RNA/DNA demethylase ALKBH6 isoform 3", "refseq_ac": [ { "id": "NP_001284630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284630", "type": "external" } ], "gene_names_uniprotkb": "ALKBH6; ABH6", "gene_names_refseq": "ABH6; ALKBH6", "protein_names_uniprotkb": "Probable RNA/DNA demethylase ALKBH6; 1.14.11.-; Alkylated DNA repair protein alkB homolog 6; Alpha-ketoglutarate-dependent dioxygenase alkB homolog 6; Probable nucleic acid dioxygenase ALKBH6", "protein_names_refseq": "alkB, alkylation repair homolog 6; alkylated DNA repair protein alkB homolog 6; alpha-ketoglutarate-dependent dioxygenase alkB homolog 6; probable RNA/DNA demethylase ALKBH6 isoform 3; probable RNA/DNA demethylase ALKBH6; probable alpha-ketoglutarate-dependent dioxygenase ABH6; probable nucleic acid dioxygenase ALKBH6", "tax_id": 9606, "disease": "", "pathway": " (hsa:84964)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "11237011;17979886;22948820;24714562;24715725;25576301;25802875;26154972;26728094;26992070;27846572;27920218;28063628;28228285;28649982;28832583;28834231;28904123;29242379;29493099;29508533;29632046;29786170;30315122;30833945;31154438;31844290;31848261;32157095;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34171305;34185709;34357683;34509645;34932366;35051231;35120926;35318648;35561310;35580925;36284347;38349410;39845104", "class_list": "", "function": "Probable Fe(2+)/2-oxoglutarate-dependent dioxygenase involved in oxidative demethylation of nucleic acids (PubMed:39845104). Binds nucleic acids with a preference for ssDNA or ssRNA to other types of DNAs (PubMed:35120926). May play a role in nucleic acid damage repair (PubMed:35120926)., [UniProtKB, PubMed, PubMed]; Structural insights into the interactions and epigenetic functions of human nucleic acid repair protein ALKBH6., [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": 5, "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": "A5LGM8;A6NLP1;A8MU96", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0016706 2-oxoglutarate-dependent dioxygenase activity;GO:0051213 dioxygenase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q3KRA9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZMV9-1", "uniprot_id": [ { "id": "KIF6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZMV9", "type": "external" } ], "mass": 92569.0, "length": 814, "protein_name": "Kinesin-like protein KIF6", "gene_name": "KIF6", "organism": "Human", "refseq_name": "kinesin-like protein KIF6 isoform 4", "refseq_ac": [ { "id": "NP_001275953", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275953", "type": "external" } ], "gene_names_uniprotkb": "KIF6; C6orf102", "gene_names_refseq": "C6orf102; KIF6; dJ1043E3.1; dJ137F1.4; dJ188D3.1", "protein_names_uniprotkb": "Kinesin-like protein KIF6", "protein_names_refseq": "kinesin-like protein KIF6 isoform 4; kinesin-like protein KIF6", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); idiopathic scoliosis (Disease Ontology:DOID:0060250); aortic dissection (Disease Ontology:DOID:0080685); hypertension (Disease Ontology:DOID:10763); cardiovascular system disease (Disease Ontology:DOID:1287); coronary artery disease (Disease Ontology:DOID:3393); myocardial infarction (Disease Ontology:DOID:5844); type 2 diabetes mellitus (Disease Ontology:DOID:9352); acute myocardial infarction (Disease Ontology:DOID:9408)", "pathway": " (hsa:221458); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 3, "publication_count": 125, "publication_id_list": "10052452;10318838;10445031;10559959;10761932;10921873;11172815;11237011;11493604;11689559;11703931;11726511;11739780;11748249;11782313;12047556;12070132;12368902;1406973;14504276;14654841;15029241;15037235;15272311;15326200;15616190;15632110;15813748;16030262;1607388;16262723;1631136;16571679;16633337;1680566;16912714;16926190;16940185;16959974;17113389;17253781;17346968;17360540;17429068;17451557;17538014;17760859;17927562;17956946;17975119;18073581;18182008;18222353;18222354;18287528;18342609;18524849;18809720;1898986;19015319;19109418;19116309;19151722;19164740;19338388;19369418;1957170;19631211;19758564;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21219331;2142332;21550981;21689688;21844168;22013193;22094269;22304919;23396477;2521221;2522352;25364732;25436559;25492864;25892735;3130248;3134048;31844290;32157095;32867607;32938616;33691108;35051231;35342690;35494241;36833179;38235522;7528108;7539720;7822426;7844144;7929562;8001155;8128252;8132710;8221884;8253837;8505331;8548803;8599929;8602245;8620540;9114004;9177194;9244307;9288971;9405360;9751720;9990005", "class_list": "", "function": "Are KIF6 and APOE polymorphisms associated with power and endurance athletes?, [RefSeq, PubMed]; Confirming and extending previous reports, carriers of the 719Arg allele of KIF6 have 34% higher risk of myocardial infarction and 24% higher risk of CHD compared with noncarriers among 25,283 women from the WHS. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Erratum:[J Am Coll Cardiol. 2008 Mar 4;51(9):977], [RefSeq, PubMed]; Impact of 719Trp>Arg Polymorphism of KIF 6 Gene on Contrast Induced Nephropathy in Patients Undergoing Coronary Angiography or Percutaneous Coronary Intervention. Publication Status: Online-Only, [RefSeq, PubMed]; In both the CARE and the WOSCOPS trials, carriers of the KIF6 719Arg allele had an increased risk of coronary events, and pravastatin treatment substantially reduced that risk. GeneRIF: Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; KIF6 Trp719Arg Genetic Variant Increases Risk for Thoracic Aortic Dissection. Publication Status: Online-Only, [RefSeq, PubMed]; Motor protein Kif6 regulates cilia motility and polarity in brain ependymal 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]; This gene encodes a member of a family of molecular motors which are involved in intracellular transport of protein complexes, membrane organelles, and messenger ribonucleic acid along microtubules. Kinesins function as homodimeric molecules with two N-terminal head domains that move along microtubules and two C-terminal tail domains that interact with the transported cargo, either directly or indirectly, through adapter molecules. This gene is ubiquitously expressed in coronary arteries and other vascular tissue. A naturally occurring mutation in this gene is associated with coronary heart disease. [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "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": "Q2MDE3;Q2MDE4;Q5T8J6;Q6ZWE3;Q86T87;Q8WTV4", "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:0005737 cytoplasm;GO:0005874 microtubule;GO:0005871 kinesin complex;GO:0005856 cytoskeleton", "go_biological_process": "GO:0007018 microtubule-based movement", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "Q6ZMV9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWS6-1", "uniprot_id": [ { "id": "F118A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWS6", "type": "external" } ], "mass": 40269.0, "length": 357, "protein_name": "Protein FAM118A", "gene_name": "FAM118A", "organism": "Human", "refseq_name": "protein FAM118A isoform 1", "refseq_ac": [ { "id": "NP_001098065", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098065", "type": "external" } ], "gene_names_uniprotkb": "FAM118A; C22orf8", "gene_names_refseq": "C22orf8; FAM118A; SIRAL2", "protein_names_uniprotkb": "Protein FAM118A", "protein_names_refseq": "bK268H5.C22.4; family with sequence similarity 118 member A; protein FAM118A isoform 1; protein FAM118A", "tax_id": 9606, "disease": "", "pathway": " (hsa:55007)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;18477386;19680542;23186163;23301498;24715725;26992070;27600516;28228285;28834231;28904123;29242379;30315122;31844290;31848261;32387766;33968037;34171305;34509645;35051231;36010968;37938771", "class_list": "", "function": "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": 1, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KWG4;B4DY02;Q5TII5;Q96CY3", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9NWS6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UIJ7-1", "uniprot_id": [ { "id": "KAD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UIJ7", "type": "external" } ], "mass": 25565.0, "length": 227, "protein_name": "GTP:AMP phosphotransferase AK3, mitochondrial", "gene_name": "AK3", "organism": "Human", "refseq_name": "GTP:AMP phosphotransferase AK3, mitochondrial isoform b", "refseq_ac": [ { "id": "NP_001186781", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186781", "type": "external" } ], "gene_names_uniprotkb": "AK3; AK3L1; AK6; AKL3L", "gene_names_refseq": "AK3L1; AK3; AK6; AKL3L1; AKL3L; FIX", "protein_names_uniprotkb": "GTP:AMP phosphotransferase AK3, mitochondrial; 2.7.4.10; Adenylate kinase 3 alpha-like 1; Adenylate kinase 3; Adenylate kinase isozyme 3", "protein_names_refseq": "GTP:AMP phosphotransferase AK3, mitochondrial isoform b; GTP:AMP phosphotransferase AK3, mitochondrial; GTP:AMP phosphotransferase, mitochondrial; adenylate kinase 3 alpha-like 1; adenylate kinase 6, adenylate kinase 3 like 1; adenylate kinase isozyme 3", "tax_id": 9606, "disease": "chronic lymphocytic leukemia (Disease Ontology:DOID:1040); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:50808); (R-HSA-983231)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "10.1101/2023.09.13.557529;11042108;11062261;11242053;11485571;11744692;11751636;11895428;11950885;12032298;12134158;12427746;15020713;15247287;15710388;16054028;1630448;17027967;17081983;17196961;19293402;20530532;20627800;218813;24366607;24715725;25576301;26154972;26375851;26811146;26845023;26992070;27862975;27888432;27920218;28832583;28834231;29242379;29393594;29493099;29508533;29557506;29632046;30429286;31154438;31530632;31611695;31844290;31848261;32157095;32502341;32822537;32897882;32938616;32983136;33465208;33537174;33717175;33912179;33968037;33981976;3409321;34357683;35457131;35580925;36241641;39894887;40596516;40914422;8662638;8816476;9065479;9230307;9326583;9331217;9422515;9927674", "class_list": "", "function": "Adenylate Kinase Isozyme 3 Regulates Mitochondrial Energy Metabolism and Knockout Alters HeLa Cell Metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial adenylate kinase with a specific GTP:AMP phosphotransferase activity (PubMed:11485571, PubMed:32822537). Could also use ITP as phosphate donor (PubMed:11485571). Its physiological function is to recycle GTP into GDP which is necessary for the TCA cycle in the mitochondrial matrix (Probable)., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]; These findings suggest that AK3 and SLIT2 may be potential candidates involved in genetic susceptibility to colorectal 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": 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": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DP58;D3DRI1;E7ET30;Q5VYW6;Q9H576;Q9HC01;Q9NPB4", "ec_number_list": [ { "id": "2.7.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.10", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.4", "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:0046899 nucleoside triphosphate adenylate kinase activity;GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0016874 ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006172 ADP biosynthetic process;GO:0046033 AMP metabolic process;GO:0046041 ITP metabolic process;GO:0046051 UTP metabolic process;GO:0007596 blood coagulation", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q9UIJ7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12972-1", "uniprot_id": [ { "id": "PP1R8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12972", "type": "external" } ], "mass": 38479.0, "length": 351, "protein_name": "Nuclear inhibitor of protein phosphatase 1", "gene_name": "PPP1R8", "organism": "Human", "refseq_name": "nuclear inhibitor of protein phosphatase 1 isoform gamma", "refseq_ac": [ { "id": "NP_002704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002704", "type": "external" } ], "gene_names_uniprotkb": "PPP1R8; ARD1; NIPP1", "gene_names_refseq": "ARD-1; ARD1; NIPP-1; NIPP1; PPP1R8; PRO2047", "protein_names_uniprotkb": "Nuclear inhibitor of protein phosphatase 1; ARD-1; NIPP-1; Protein phosphatase 1 regulatory inhibitor subunit 8", "protein_names_refseq": "RNase E; activator of RNA decay; nuclear inhibitor of protein phosphatase 1 isoform gamma; nuclear inhibitor of protein phosphatase 1; nuclear inhibitor of protein phosphatase-1 alpha; nuclear inhibitor of protein phosphatase-1 beta; nuclear subunit of PP-1; protein phosphatase 1, regulatory (inhibitor) subunit 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:5511); (R-HSA-72163); (R-HSA-9770562)", "pathway_count": 3, "publication_count": 165, "publication_id_list": "10103062;10432294;10564811;10669729;10827081;10882114;11014198;11034904;11060040;11101529;11104670;11233976;11237011;11739654;11909864;11991638;12105215;12176931;12411573;12414731;12477934;12788942;14625303;14699119;14713954;14749727;15037765;15565158;16314458;16809785;17095540;17128255;17332742;17606899;18288197;18322460;18593880;18669648;19103666;19165350;19217410;19536130;20068231;20423332;20516061;20695905;20980672;21295486;21536652;2176635;22110043;22365833;22813749;22959432;22961380;23186163;23222130;23236153;23345524;23874216;24076191;24149845;24196718;24304693;24448447;24714562;24715725;24737827;24914973;25301780;25301781;25505266;25555158;25576301;2558966;25892735;26154972;26375851;26385511;26420826;26969736;26992070;27377154;27459055;27683217;28062851;28076346;28096519;28502770;28510447;28781166;28904123;28911096;29186539;29274231;29301961;29351928;29360106;29361316;29485866;29557506;2963332;29898919;30139799;30257008;30315277;30429286;30705154;30728453;30765414;30975767;31409651;31844290;31848261;32119511;32157095;32179686;32329775;32357974;32387766;32494006;32816001;32897882;32938616;32983136;33243851;33298915;33446560;33592498;33912179;33939241;33968037;33981976;34019948;34087483;34171305;34301950;34509645;34822310;34932366;35051231;35177536;35318648;35385551;35580925;36010968;36241641;3757028;40596516;40914422;7499293;7524097;8566756;8608946;9016565;9153239;9242493;9407077;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "Inhibitor subunit of the major nuclear protein phosphatase-1 (PP-1). It has RNA-binding activity but does not cleave RNA and may target PP-1 to RNA-associated substrates. May also be involved in pre-mRNA splicing. Binds DNA and might act as a transcriptional repressor. Seems to be required for cell proliferation., [UniProtKB]; Isoform Gamma is a site-specific single-strand endoribonuclease that cleaves single strand RNA 3' to purines and pyrimidines in A+U-rich regions. It generates 5'-phosphate termini at the site of cleavage. This isoform does not inhibit PP-1. May be implicated in mRNA splicing., [UniProtKB]; PP1 regulatory subunit NIPP1 regulates transcription of E2F1 target genes following DNA damage., [RefSeq, PubMed]; PP1-NIPP1 expression resulted in the build up of RNA-DNA hybrids (R-loops), enhanced chromatin compaction and a diminished repair of DNA double-strand breaks. Publication Status: Online-Only, [RefSeq, PubMed]; This gene, through alternative splicing, encodes three different isoforms. Two of the protein isoforms encoded by this gene are specific inhibitors of type 1 serine/threonine protein phosphatases and can bind but not cleave RNA. The third protein isoform lacks the phosphatase inhibitory function but is a single-strand endoribonuclease comparable to RNase E of E. coli. This isoform requires magnesium for its function and cleaves specific sites in A+U-rich regions of RNA. [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": 16, "reported_mutagensis": 14, "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": "Q5TEJ2;Q5TEJ4;Q5TIF2;Q6PKF6;Q9UBH1;Q9UBZ0", "ec_number_list": [], "go_molecular_function": "GO:0004865 protein serine/threonine phosphatase inhibitor activity;GO:0008995 ribonuclease E activity;GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0006401 RNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "Q12972-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12788-1", "uniprot_id": [ { "id": "TBL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12788", "type": "external" } ], "mass": 89035.0, "length": 808, "protein_name": "Transducin beta-like protein 3", "gene_name": "TBL3", "organism": "Human", "refseq_name": "transducin beta-like protein 3", "refseq_ac": [ { "id": "NP_006444", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006444", "type": "external" } ], "gene_names_uniprotkb": "TBL3; SAZD", "gene_names_refseq": "SAZD; TBL3; UTP13", "protein_names_uniprotkb": "Transducin beta-like protein 3; WD repeat-containing protein SAZD", "protein_names_refseq": "WD repeat-containing protein SAZD; WD-repeat protein SAZD; transducin beta-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:10607); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 159, "publication_id_list": "10606270;11081632;11237011;11922599;11935223;11978965;12068309;12150911;12417735;12429849;12750860;15199136;16037817;16043514;16381836;16738141;16782898;17189298;17353269;17412707;17636026;18065403;18438418;18991276;19033376;19106111;19332556;19463982;19564402;19724895;19801658;20038530;20047967;20056613;20068231;20198315;20531386;20798176;20805244;20819938;21036871;21063389;21097556;22072790;22190735;22195017;22645359;22916032;23186163;23301498;23391857;23439679;23481700;23482395;2388630;24086612;24366607;24397554;24424021;24550520;24714562;24715725;25411247;25418920;25525153;25576301;25645385;25653167;25851604;25969445;26024233;26085946;26154972;26196125;26237581;26811146;26992070;27084949;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32502341;32522876;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34516797;34561969;34725712;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37217939;37938771;40596516;8307582;9211966;9482744;9512526", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome., [UniProtKB, PubMed]; The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene has multiple polyadenylation sites. It might have multiple alternatively spliced transcript variants but the variants have not been fully described yet. [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": 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": "Q59GD6;Q8IVB7;Q96A78", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0034511 U3 snoRNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0030686 90S preribosome;GO:0032040 small-subunit processome", "go_biological_process": "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:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA;GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "Q12788-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56377-1", "uniprot_id": [ { "id": "AP1S2_HUMAN", "url": "https://www.uniprot.org/uniprot/P56377", "type": "external" } ], "mass": 18615.0, "length": 157, "protein_name": "AP-1 complex subunit sigma-2", "gene_name": "AP1S2", "organism": "Human", "refseq_name": "AP-1 complex subunit sigma-2 isoform 2", "refseq_ac": [ { "id": "NP_003907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003907", "type": "external" } ], "gene_names_uniprotkb": "AP1S2; DC22", "gene_names_refseq": "AP1S2; DC22; MRX59; MRXS21; MRXS5; MRXSF; PGS; SIGMA1B", "protein_names_uniprotkb": "AP-1 complex subunit sigma-2; Adaptor protein complex AP-1 subunit sigma-1B; Adaptor-related protein complex 1 subunit sigma-1B; Clathrin assembly protein complex 1 sigma-1B small chain; Golgi adaptor HA1/AP1 adaptin sigma-1B subunit; Sigma 1B subunit of AP-1 clathrin; Sigma-adaptin 1B; Sigma1B-adaptin", "protein_names_refseq": "AP-1 complex subunit sigma-2 isoform 2; AP-1 complex subunit sigma-2; adapter-related protein complex 1 sigma-1B subunit; adaptor protein complex AP-1 sigma-1B subunit; adaptor related protein complex 1 sigma 2 subunit; adaptor-related protein complex 1 subunit sigma-1B; clathrin adaptor complex AP1 sigma 1B subunit; clathrin assembly protein complex 1 sigma-1B small chain; golgi adaptor HA1/AP1 adaptin sigma-1B subunit; sigma1B-adaptin", "tax_id": 9606, "disease": "syndromic X-linked intellectual disability 5 (Disease Ontology:DOID:0060800)", "pathway": " (hsa:8905); (R-HSA-164940); (R-HSA-2132295); (R-HSA-432720); (R-HSA-432722)", "pathway_count": 5, "publication_count": 107, "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;11994746;12078484;12198549;12742663;12748383;14731593;15102850;15471854;15569716;15749704;15911768;16155256;16181339;16242130;16618111;16824007;16867982;17116749;17142755;17186471;17283181;18046453;18292509;19559397;1956401;19564404;19651769;20230749;20708039;21116285;2121367;21441454;21620353;2190094;2391366;26375851;29557506;29789417;30315122;30410026;31712557;31844290;32157095;32265295;32357974;32938616;32983136;33691108;33936100;33968037;35318648;35580925;37328093;38682877;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": "A novel AP1S2 variant causing leaky splicing in X-linked intellectual disability: Further delineation and intrafamilial variability., [RefSeq, PubMed]; Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]., [RefSeq]; Long noncoding RNA LINC00518 acts as a competing endogenous RNA to promote the metastasis of malignant melanoma via miR-204-5p/AP1S2 axis. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-204-5p-targeted AP1S2 is necessary for papillary thyroid carcinoma., [RefSeq, PubMed]; Subunit of clathrin-associated adaptor protein complex 1 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., [UniProtKB, 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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B4DSU4;O95326;Q9H2N6", "ec_number_list": [], "go_molecular_function": "GO:0035615 clathrin adaptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005905 clathrin-coated pit", "go_biological_process": "GO:1903232 melanosome assembly;GO:0006886 intracellular protein transport;GO:0060155 platelet dense granule organization;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "P56377-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3D7-1", "uniprot_id": [ { "id": "TIM16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3D7", "type": "external" } ], "mass": 13825.0, "length": 125, "protein_name": "Mitochondrial import inner membrane translocase subunit TIM16", "gene_name": "CORO7-PAM16; PAM16", "organism": "Human", "refseq_name": "mitochondrial import inner membrane translocase subunit TIM16", "refseq_ac": [ { "id": "NP_057153", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057153", "type": "external" } ], "gene_names_uniprotkb": "CORO7-PAM16; PAM16; CGI-136; CORO7-PAM16; MAGMAS; TIM16; TIMM16", "gene_names_refseq": "CGI-136; MAGMAS; PAM16; SMDMDM; TIM16; TIMM16", "protein_names_uniprotkb": "Mitochondrial import inner membrane translocase subunit TIM16; Mitochondria-associated granulocyte macrophage CSF-signaling molecule; Presequence translocated-associated motor subunit PAM16", "protein_names_refseq": "magmas-like protein; mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction; mitochondria-associated granulocyte macrophage CSF-signaling molecule; mitochondrial import inner membrane translocase subunit TIM16; presequence translocase associated motor 16 homolog", "tax_id": 9606, "disease": "spondylometaphyseal dysplasia Megarbane-Dagher-Melike type (Disease Ontology:DOID:0112304); osteochondrodysplasia (Disease Ontology:DOID:2256)", "pathway": " (hsa:100529144); (hsa:51025); (R-HSA-1268020)", "pathway_count": 3, "publication_count": 36, "publication_id_list": "11237011;11750097;14726512;15254020;15644312;15683237;15704001;16185709;16849325;17510655;18174896;18678864;19409522;19453276;19767391;19962426;20053669;20593814;21750375;23041349;23263864;23597483;23811401;24786642;25315652;26697887;28904123;29242379;29393594;30414099;31217245;33936100;33968037;34715125;36241641;37217939", "class_list": "", "function": "F-actin regulator involved in anterograde Golgi to endosome transport: upon ubiquitination via 'Lys-33'-linked ubiquitin chains by the BCR(KLHL20) E3 ubiquitin ligase complex, interacts with EPS15 and localizes to the trans-Golgi network, where it promotes actin polymerization, thereby facilitating post-Golgi trafficking. May play a role in the maintenance of the Golgi apparatus morphology., [UniProtKB, UniProtKB, UniProtKB]; Findings demonstrate that Magmas is overexpressed in tissue sections from glioma patients and xenografts. In vivo studies showed that a novel Magmas small molecule inhibitor, BT#9, could cross the BBB in mice. In vitro studies revealed that BT#9 significantly decreased cell proliferation, induced apoptosis, and blocked migration and invasion., [RefSeq, PubMed]; Magmas expression in prostate cancer., [RefSeq, PubMed]; Multiple variants of the human presequence translocase motor subunit Magmas govern the mitochondrial import., [RefSeq, PubMed]; Regulates ATP-dependent protein translocation into the mitochondrial matrix. Inhibits DNAJC19 stimulation of HSPA9/Mortalin ATPase activity., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a mitochondrial protein involved in granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling. This protein also plays a role in the import of nuclear-encoded mitochondrial proteins into the mitochondrial matrix and may be important in reactive oxygen species (ROS) homeostasis. Mutations in this gene cause Megarbane-Dagher-Melike type spondylometaphyseal dysplasia, an early lethal skeletal dysplasia characterized by short stature, developmental delay and other skeletal abnormalities. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 8, "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": "Q6I9Z3;Q9H5X3", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0005744 TIM23 mitochondrial import inner membrane translocase complex;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0001503 ossification;GO:0032780 negative regulation of ATP-dependent activity;GO:0030150 protein import into mitochondrial matrix;GO:0007015 actin filament organization", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9Y3D7-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13596-1", "uniprot_id": [ { "id": "SNX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13596", "type": "external" } ], "mass": 59070.0, "length": 522, "protein_name": "Sorting nexin-1", "gene_name": "SNX1", "organism": "Human", "refseq_name": "sorting nexin-1 isoform d", "refseq_ac": [ { "id": "NP_001229862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229862", "type": "external" } ], "gene_names_uniprotkb": "SNX1", "gene_names_refseq": "HsT17379; SNX1; VPS5", "protein_names_uniprotkb": "Sorting nexin-1", "protein_names_refseq": "sorting nexin 1A; sorting nexin-1 isoform d", "tax_id": 9606, "disease": "", "pathway": " (hsa:6642)", "pathway_count": 1, "publication_count": 123, "publication_id_list": "11102511;11237011;11997453;12198132;15498486;15673616;16407403;17081983;17101778;17550970;18088323;18292551;18452278;18669648;19608861;19619496;19651622;19690332;19816406;19874558;19935774;20068231;20070609;20166139;20604901;21040701;22431521;23085988;23152498;23186163;23301498;23481700;24275569;24366607;24714562;24715725;25418920;25576301;25645385;25810538;25880248;26154972;26728094;26811146;26929215;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30779550;30833945;31154438;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34433824;34509645;34561969;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38665916;38836326;39073202;40914422;8638121;9819414", "class_list": "", "function": "Involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:12198132). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called endosome-to-TGN transport carrier (ETC) (Probable). Can sense membrane curvature and has in vitro vesicle-to-membrane remodeling activity (PubMed:19816406, PubMed:23085988). Involved in retrograde endosome-to-TGN transport of lysosomal enzyme receptors (IGF2R, M6PR and SORT1) and Shiginella dysenteria toxin stxB. Plays a role in targeting ligand-activated EGFR to the lysosomes for degradation after endocytosis from the cell surface and release from the Golgi (PubMed:12198132, PubMed:15498486, PubMed:17101778, PubMed:17550970, PubMed:18088323, PubMed:21040701). Involvement in retromer-independent endocytic trafficking of P2RY1 and lysosomal degradation of protease-activated receptor-1/F2R (PubMed:16407403, PubMed:20070609). Promotes KALRN- and RHOG-dependent but retromer-independent membrane remodeling such as lamellipodium formation; the function is dependent on GEF activity of KALRN (PubMed:20604901). Required for endocytosis of DRD5 upon agonist stimulation but not for basal receptor trafficking (PubMed:23152498)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SNX1 associates with a microdomain of the early endosome where it regulates tubular-based endosome-to-trans Golgi network retrieval of the cation-independent mannose-6-phosphate receptor., [RefSeq, PubMed]; Spatiotemporal regulation of the hepatocyte growth factor receptor MET activity by sorting nexins 1/2 in HCT116 colorectal cancer cells., [RefSeq, PubMed]; This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This endosomal protein regulates the cell-surface expression of epidermal growth factor receptor. This protein also has a role in sorting protease-activated receptor-1 from early endosomes to lysosomes. This protein may form oligomeric complexes with family members. This gene results in three transcript variants encoding distinct 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A6NM19;A8K6T7;H0Y2M5;O60750;O60751;Q6ZRJ8", "ec_number_list": [], "go_molecular_function": "GO:0005158 insulin receptor binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0031623 receptor internalization;GO:0072673 lamellipodium morphogenesis;GO:0045732 positive regulation of protein catabolic process;GO:0042147 retrograde transport, endosome to Golgi", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "Q13596-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR28-1", "uniprot_id": [ { "id": "DBLOH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR28", "type": "external" } ], "mass": 27131.0, "length": 239, "protein_name": "Diablo IAP-binding mitochondrial protein", "gene_name": "DIABLO", "organism": "Human", "refseq_name": "diablo IAP-binding mitochondrial protein isoform 4", "refseq_ac": [ { "id": "NP_001265231", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265231", "type": "external" } ], "gene_names_uniprotkb": "DIABLO; SMAC", "gene_names_refseq": "DFNA64; DIABLO; SMAC", "protein_names_uniprotkb": "Diablo IAP-binding mitochondrial protein; Diablo homolog, mitochondrial; Direct IAP-binding protein with low pI; SMAC; Second mitochondria-derived activator of caspases", "protein_names_refseq": "diablo IAP-binding mitochondrial protein isoform 4; diablo homolog, mitochondrial; diablo-like protein; direct IAP-binding protein with low pI; second mitochondria-derived activator of caspases; second mitochondria-derived activator of caspase", "tax_id": 9606, "disease": "autosomal dominant nonsyndromic deafness 64 (Disease Ontology:DOID:0110585); lung non-small cell carcinoma (Disease Ontology:DOID:3908)", "pathway": " (hsa:56616); (R-HSA-111457); (R-HSA-111463); (R-HSA-111464); (R-HSA-111469); (R-HSA-9627069)", "pathway_count": 6, "publication_count": 90, "publication_id_list": "10929711;10949025;10950947;10972280;11084335;11140637;11140638;11230124;11237011;11242052;11257230;11257231;11408476;12620238;12660240;12874265;12941691;14523016;14960576;15200957;15271982;15650747;16729033;17724022;18083711;18521960;18619610;19153467;21536684;21695558;21722859;21949740;23479728;23481700;24038446;24367089;25310587;25576301;25880248;26458825;26992070;27920218;28063628;28218747;28228285;28288130;28510447;28514659;28832583;28904123;29242379;29393594;29437277;29557506;29632046;30315122;30429286;30484775;30524438;31154438;31217245;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34509645;34932366;36010968;36241641;36758104;36758105;36758106;37522329;38836659;9230442", "class_list": "", "function": "AREL1 resists the apoptosis induced by TGF-beta by inhibiting SMAC in vascular endothelial cells., [RefSeq, PubMed]; Attenuates the stability and apoptosis-inhibiting activity of XIAP/BIRC4 by promoting XIAP/BIRC4 ubiquitination and degradation through the ubiquitin-proteasome pathway. Also disrupts XIAP/BIRC4 interacting with processed caspase-9 and promotes caspase-3 activation., [UniProtKB, PubMed]; Defective in the capacity to down-regulate the XIAP/BIRC4 abundance., [UniProtKB, PubMed]; In vivo and in vitro studies on the role of regulating Smac expression in the occurrence and development of colon cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes apoptosis by activating caspases in the cytochrome c/Apaf-1/caspase-9 pathway. Acts by opposing the inhibitory activity of inhibitor of apoptosis proteins (IAP). Inhibits the activity of BIRC6/BRUCE by inhibiting its binding to caspases (PubMed:15200957, PubMed:36758104, PubMed:36758105, PubMed:36758106)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Smac3 is a novel Smac/DIABLO splicing variant and attenuates the stability and apoptosis-inhibiting activity of XIAP, [RefSeq, PubMed]; This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by binding to inhibitor of apoptosis proteins. Overexpression of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this gene is associated with young-adult onset of nonsyndromic deafness-64. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 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": 2, "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": "B2RDQ0;Q6W3F3;Q96LV0;Q9BT11;Q9HAV6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space;GO:0005829 cytosol;GO:0009898 cytoplasmic side of plasma membrane;GO:0035631 CD40 receptor complex", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0051402 neuron apoptotic process;GO:0006915 apoptotic process;GO:0097190 apoptotic signaling pathway;GO:0097193 intrinsic apoptotic signaling pathway", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q9NR28-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZD8-1", "uniprot_id": [ { "id": "SPG21_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZD8", "type": "external" } ], "mass": 34960.0, "length": 308, "protein_name": "Maspardin", "gene_name": "SPG21", "organism": "Human", "refseq_name": "maspardin isoform a", "refseq_ac": [ { "id": "NP_001121361", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121361", "type": "external" } ], "gene_names_uniprotkb": "SPG21; ACP33; BM-019; GL010", "gene_names_refseq": "ABHD21; ACP33; BM-019; GL010; MAST; SPG21", "protein_names_uniprotkb": "Maspardin; Acid cluster protein 33; Spastic paraplegia 21 autosomal recessive Mast syndrome protein; Spastic paraplegia 21 protein", "protein_names_refseq": "SPG21, maspardin; acid cluster protein 33; maspardin isoform a; maspardin; spastic paraplegia 21 (autosomal recessive, Mast syndrome)", "tax_id": 9606, "disease": "Mast syndrome (Disease Ontology:DOID:0060245); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:51324)", "pathway_count": 1, "publication_count": 80, "publication_id_list": "11113139;11237011;14564668;18077418;19184135;19413330;20068231;22424782;22544926;23481700;24366607;24715725;25418920;25576301;25880248;26154972;26811146;26929215;26992070;27600516;27846572;27920218;28218747;28228285;28467828;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30410026;30524438;30779550;30833945;31154438;31217245;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34171305;34185709;34357683;34405274;34509645;34561969;34932366;35051231;35251023;35318648;35580925;36010968;36215666;36284347;37938771;38753154", "class_list": "", "function": "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]; Frameshift results in the premature termination of the encoded product, which is designated 'maspardin' (Mast syndrome, spastic paraplegia, autosomal recessive with dementia), [RefSeq, PubMed]; May play a role as a negative regulatory factor in CD4-dependent T-cell activation., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; SPG21, a potential oncogene targeted by miR-128-3p, amplifies HBx-induced carcinogenesis and chemoresistance via activation of TRPM7-mediated JNK pathway in hepatocellular carcinoma., [RefSeq, PubMed]; The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B4DW44;Q6ZMB6", "ec_number_list": [], "go_molecular_function": "GO:0042609 CD4 receptor binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0010008 endosome membrane;GO:0030140 trans-Golgi network transport vesicle;GO:0005737 cytoplasm", "go_biological_process": "GO:0050851 antigen receptor-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9NZD8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2NKJ3-1", "uniprot_id": [ { "id": "CTC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2NKJ3", "type": "external" } ], "mass": 134609.0, "length": 1217, "protein_name": "CST complex subunit CTC1", "gene_name": "CTC1", "organism": "Human", "refseq_name": "CST complex subunit CTC1 isoform 1", "refseq_ac": [ { "id": "NP_079375", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079375", "type": "external" } ], "gene_names_uniprotkb": "CTC1; C17orf68", "gene_names_refseq": "AAF-132; AAF132; C17orf68; CRMCC; CTC1; tmp494178", "protein_names_uniprotkb": "CST complex subunit CTC1; Conserved telomere maintenance component 1; HBV DNAPTP1-transactivated protein B", "protein_names_refseq": "CST complex subunit CTC1 isoform 1; CST complex subunit CTC1; CST telomere maintenance complex component 1; CTS telomere maintenance complex component 1; HBV DNAPTP1-transactivated protein B; alpha accessory factor 132; conserved telomere capping protein 1", "tax_id": 9606, "disease": "cerebroretinal microangiopathy with calcifications and cysts 1 (MONDO:MONDO:0024564)", "pathway": " (hsa:80169); (R-HSA-174411); (R-HSA-174430)", "pathway_count": 3, "publication_count": 56, "publication_id_list": "10329413;11237011;12766176;12930902;15066120;16314528;18452278;1974050;19854130;19854131;20639858;22267198;22387016;22763445;22863775;22871736;24038470;24115439;24715725;25483097;25576301;26154972;27846572;28228285;28334750;28832583;29242379;29493099;29557506;29632711;29774655;30026550;31217245;31844290;31848261;31937595;31998317;32157095;32502341;32938616;32983136;33141586;33298915;33592498;33912179;33936100;33968037;34171305;34211107;35051231;37021555;37978541;38418884;6693436;8954124;9822671", "class_list": "", "function": "A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease. Publication Status: Online-Only, [RefSeq, PubMed]; CST-polymerase alpha-primase solves a second telomere end-replication problem., [RefSeq, PubMed]; CTC1 OB-B interaction with TPP1 terminates telomerase and prevents telomere overextension., [RefSeq, PubMed]; CTC1 participates in telomere maintenance in diverse species and that a CST-like complex is required for telomere integrity in multicellular organisms., [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). 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). Involved in telomere maintenance (PubMed:19854131, PubMed:22863775). Involved in genome stability (PubMed:22863775). May be in involved in telomeric C-strand fill-in during late S/G2 phase (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Ctc1-Stn1-Ten1 is a replication protein A (RPA)-like complex that is not directly involved in conventional DNA replication at forks but plays a role in DNA metabolism frequently required by telomeres., [RefSeq, PubMed]; Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Publication Status: Online-Only, [RefSeq, PubMed]; Observed four recessively inherited compound heterozygous mutations in CTC1, which encodes the CTS telomere maintenance complex component 1., [RefSeq, PubMed]; This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KR66;C9JEX5;Q1PCD1;Q2TBE3;Q8N3S6;Q9H6L0", "ec_number_list": [], "go_molecular_function": "GO:0098505 G-rich strand telomeric DNA binding;GO:0042162 telomeric DNA binding;GO:0003697 single-stranded 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": 5.7, "record_id": "Q2NKJ3-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P34932-1", "uniprot_id": [ { "id": "HSP74_HUMAN", "url": "https://www.uniprot.org/uniprot/P34932", "type": "external" } ], "mass": 94331.0, "length": 840, "protein_name": "Heat shock 70 kDa protein 4", "gene_name": "HSPA4", "organism": "Human", "refseq_name": "heat shock 70 kDa protein 4", "refseq_ac": [ { "id": "NP_002145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002145", "type": "external" } ], "gene_names_uniprotkb": "HSPA4; APG2; HSPH2", "gene_names_refseq": "APG-2; HEL-S-5a; HS24/P52; HSPA4; HSPH2; RY; hsp70RY; hsp70", "protein_names_uniprotkb": "Heat shock 70 kDa protein 4; HSP70RY; Heat shock 70-related protein APG-2; Heat shock protein family H member 2", "protein_names_refseq": "epididymis secretory sperm binding protein Li 5a; heat shock 70 kDa protein 4; heat shock 70-related protein APG-2; heat shock 70kD protein 4; heat shock protein family H member 2; heat shock protein, 110 kDa; hsp70 RY", "tax_id": 9606, "disease": "adult respiratory distress syndrome (Disease Ontology:DOID:11394); Chagas disease (Disease Ontology:DOID:12140); Parkinson's disease (Disease Ontology:DOID:14330); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); middle cerebral artery infarction (Disease Ontology:DOID:3525); rheumatoid arthritis (Disease Ontology:DOID:7148); ulcerative colitis (Disease Ontology:DOID:8577); liver benign neoplasm (Disease Ontology:DOID:916); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:3308); (R-HSA-3371453)", "pathway_count": 2, "publication_count": 154, "publication_id_list": "10954706;11747420;12853476;12917326;12974469;15364926;15592455;15802566;1586970;16278218;16408927;17525332;1754405;18235501;18235502;18550409;18663603;18669648;18767875;19229036;19413330;19608861;19664994;19664995;19690332;19914676;20058876;20068231;20072699;20305658;21406692;21740066;22465953;22541429;22735644;22940245;23186163;23349863;23481700;23783831;24129315;24714562;24715725;25418920;25576301;25645385;25810538;25880248;25892735;25900241;26154972;26375851;26728094;26758079;26768311;26853435;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30429286;30524438;30779550;30833945;31020640;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33465208;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34405274;34509645;34725712;34932366;35008409;35051231;35083852;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37217939;37932471;37938771;38062957;38253038;38266641;38597327;38665916;40596516;40914422;7585962;8335910;8721986;8946918;9305631;9873016;9920933", "class_list": "", "function": "A new look at Hsp70 activity in phosphatidylserine-enriched membranes: chaperone-induced quasi-interdigitated lipid phase. Publication Status: Online-Only, [RefSeq, PubMed]; Dynamically changed HSP70 after reperfusion following cerebral infarction in human and rats: correlation with p38 MAPK., [RefSeq, PubMed]; HSP70 binds to specific non-coding RNA and regulates human RNA polymerase III., [RefSeq, PubMed]; [The Protective Action of Hsp70 and Hydrogen Sulfide Donors in THP-1 Macrophages in the Lipopolysaccharide-Induced Inflammatory Response by Modulating Endocytosis]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 0, "reported_glycation": 0, "reported_snv": 17, "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": "O95756;Q2TAL4;Q9BUK9", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0000774 adenyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006457 protein folding;GO:0006986 response to unfolded protein;GO:0051131 chaperone-mediated protein complex assembly;GO:0030150 protein import into mitochondrial matrix", "synthesized_glycan_count": 0, "hit_score": 15.9, "record_id": "P34932-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PF15-1", "uniprot_id": [ { "id": "KLH35_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PF15", "type": "external" } ], "mass": 62892.0, "length": 583, "protein_name": "Kelch-like protein 35", "gene_name": "KLHL35", "organism": "Human", "refseq_name": "kelch-like protein 35", "refseq_ac": [ { "id": "NP_001034637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034637", "type": "external" } ], "gene_names_uniprotkb": "KLHL35", "gene_names_refseq": "KLHL35", "protein_names_uniprotkb": "Kelch-like protein 35", "protein_names_refseq": "kelch-like 35; kelch-like protein 35", "tax_id": 9606, "disease": "", "pathway": " (hsa:283212)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;23481700;28832583;30379171;30620550;32897882;33537174;34185709;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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A2RU06;F5H412;Q86XM7;Q8NBB1", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6PF15-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WV92-1", "uniprot_id": [ { "id": "MITD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WV92", "type": "external" } ], "mass": 29314.0, "length": 249, "protein_name": "MIT domain-containing protein 1", "gene_name": "MITD1", "organism": "Human", "refseq_name": "MIT domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001307346", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307346", "type": "external" } ], "gene_names_uniprotkb": "MITD1", "gene_names_refseq": "MITD1", "protein_names_uniprotkb": "MIT domain-containing protein 1", "protein_names_refseq": "MIT domain-containing protein 1 isoform 2; MIT domain-containing protein 1; MIT, microtubule interacting and transport, domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:129531)", "pathway_count": 1, "publication_count": 66, "publication_id_list": "11237011;16730941;18452278;19129480;22424782;22869377;23015756;23045692;23481700;24714562;25576301;25880248;25892735;26154972;26375851;26992070;27090790;27600516;27846572;27920218;28228285;28832583;28904123;29242379;29493099;29508533;29557506;29632711;29786170;30379171;30524438;31154438;31217245;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33200223;33592498;33717175;33912179;33936100;33968037;34087483;34185709;34346239;34357683;34509645;34932366;35051231;35154160;35561310;35580925;36046690;36284347;36291174;38554936", "class_list": "", "function": "Abscission, the separation of daughter cells at the end of cytokinesis, is effected by endosomal sorting complexes required for transport III (ESCRT-III). The protein encoded by this gene functions as a homodimer, with the N-termini binding to a subset of ESCRT-III subunits and the C-termini binding to membranes. The encoded protein regulates ESCRT-III activity and is required for proper cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]., [RefSeq]; Evaluating the biological functions of the prognostic genes identified by the Pathology Atlas in bladder cancer., [RefSeq, PubMed]; MITD1 Deficiency Suppresses Clear Cell Renal Cell Carcinoma Growth and Migration by Inducing Ferroptosis through the TAZ/SLC7A11 Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; MITD1 participates in the abscission phase of cytokinesis and ESCRT-III subunits are important for the recruitment of MITD1 to the midbody., [RefSeq, PubMed]; Microtubule interacting and trafficking domain containing 1 deficiency leads to poor survival via tissue factor-mediated coagulation in bladder cancer., [RefSeq, PubMed]; Pan-Cancer Analysis of the Prognostic and Immunotherapeutic Value of MITD1. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic Impact of MITD1 and Associates With Immune Infiltration in Kidney Renal Clear Cell Carcinoma., [RefSeq, PubMed]; Required for efficient abscission at the end of cytokinesis, together with components of the ESCRT-III complex., [UniProtKB, PubMed, PubMed]; Results suggest a model whereby MITD1 coordinates the activity of ESCRT-III during abscission with earlier events in the final stages of cell division, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q69YV0", "ec_number_list": [], "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0031902 late endosome membrane;GO:0030496 midbody", "go_biological_process": "GO:0032091 negative regulation of protein binding;GO:0000281 mitotic cytokinesis;GO:0061952 midbody abscission;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q8WV92-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15050-1", "uniprot_id": [ { "id": "RRS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15050", "type": "external" } ], "mass": 41193.0, "length": 365, "protein_name": "Ribosome biogenesis regulatory protein homolog", "gene_name": "RRS1", "organism": "Human", "refseq_name": "ribosome biogenesis regulatory protein homolog", "refseq_ac": [ { "id": "NP_055984", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055984", "type": "external" } ], "gene_names_uniprotkb": "RRS1; KIAA0112; RRR", "gene_names_refseq": "RRS1", "protein_names_uniprotkb": "Ribosome biogenesis regulatory protein homolog", "protein_names_refseq": "RRS1 ribosome biogenesis regulator homolog; homolog of yeast ribosome biogenesis regulatory protein RRS1; ribosome biogenesis regulator 1 homolog; ribosome biogenesis regulatory protein RRS1 homolog; ribosome biogenesis regulatory protein homolog", "tax_id": 9606, "disease": "Huntington's disease (Disease Ontology:DOID:12858)", "pathway": " (hsa:23212)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "12429849;19007248;19465021;22223895;23186163;23301498;24120868;26992070;27846572;27920218;28228285;28832583;29242379;29393594;29557506;29632046;30429286;31530632;31844290;31848261;32488085;32938616;32983136;33465208;33936100;33968037;34185709;34433556;34932366;35083852;37291423;37705317;38253038;38331968;39267538;40596516;40914422", "class_list": "", "function": "Genomic gain of RRS1 promotes hepatocellular carcinoma through reducing the RPL11-MDM2-p53 signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Genomic gain/methylation modification/hsa-miR-132-3p increases RRS1 overexpression in liver hepatocellular carcinoma., [RefSeq, PubMed]; Involved in ribosomal large subunit assembly. May regulate the localization of the 5S RNP/5S ribonucleoprotein particle to the nucleolus., [UniProtKB, PubMed]; Long noncoding RNA SNHG1 promotes breast cancer progression by regulating the miR-641/RRS1 axis. Publication Status: Online-Only, [RefSeq, PubMed]; RNA interference experiments revealed that RRS1-depleted cells show abnormalities in chromosome alignment and spindle organization, which result in mitotic delay., [RefSeq, PubMed]; The role of RRS1 in breast cancer cells metastasis and AEG-1/AKT/c-Myc signaling pathway., [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": 2, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q9BUX8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008097 5S rRNA binding", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005730 nucleolus;GO:0005783 endoplasmic reticulum;GO:0030687 preribosome, large subunit precursor", "go_biological_process": "GO:1902570 protein localization to nucleolus;GO:0042273 ribosomal large subunit biogenesis;GO:1901796 regulation of signal transduction by p53 class mediator;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:0007080 mitotic metaphase chromosome alignment", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q15050-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42229-1", "uniprot_id": [ { "id": "STA5A_HUMAN", "url": "https://www.uniprot.org/uniprot/P42229", "type": "external" } ], "mass": 90647.0, "length": 794, "protein_name": "Signal transducer and activator of transcription 5A", "gene_name": "STAT5A", "organism": "Human", "refseq_name": "signal transducer and activator of transcription 5A isoform 1", "refseq_ac": [ { "id": "NP_001275647", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275647", "type": "external" } ], "gene_names_uniprotkb": "STAT5A; STAT5", "gene_names_refseq": "MGF; STAT5A; STAT5", "protein_names_uniprotkb": "Signal transducer and activator of transcription 5A", "protein_names_refseq": "epididymis secretory sperm binding protein; signal transducer and activator of transcription 5A isoform 1", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); B-lymphoblastic leukemia/lymphoma (Disease Ontology:DOID:0080630); growth hormone insensitivity syndrome with immune dysregulation 1 (Disease Ontology:DOID:0080836); castration-resistant prostate carcinoma (Disease Ontology:DOID:0080909); prostate cancer (Disease Ontology:DOID:10283); colon adenocarcinoma (Disease Ontology:DOID:234); glioblastoma (Disease Ontology:DOID:3068); invasive lobular carcinoma (Disease Ontology:DOID:3457); gastric adenocarcinoma (Disease Ontology:DOID:3717); chronic myeloid leukemia (Disease Ontology:DOID:8552)", "pathway": " (hsa:6776); (R-HSA-1170546); (R-HSA-1251985); (R-HSA-1266695); (R-HSA-1433557); (R-HSA-1839117); (R-HSA-186763); (R-HSA-2586552); (R-HSA-512988); (R-HSA-8854691); (R-HSA-8983432); (R-HSA-8985947); (R-HSA-9020558); (R-HSA-9020958); (R-HSA-9027283); (R-HSA-9645135); (R-HSA-9670439); (R-HSA-9674555); (R-HSA-9702518); (R-HSA-9703465); (R-HSA-9705462); (R-HSA-9725371); (R-HSA-982772); (R-HSA-9976102)", "pathway_count": 24, "publication_count": 566, "publication_id_list": 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"class_list": "", "function": "Abnormal M1 polarization of placental macrophage induced by IL-15/STAT5 activation in VVC may lead to adverse pregnancy outcomes., [RefSeq, PubMed]; Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Mediates cellular responses to ERBB4. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4. Binds to the GAS element and activates PRL-induced transcription. Regulates the expression of milk proteins during lactation., [UniProtKB, PubMed]; Hyperactive STAT5 hijacks T cell receptor signaling and drives immature T cell acute lymphoblastic leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; IDH2/R140Q mutation confers cytokine-independent proliferation of TF-1 cells by activating constitutive STAT3/5 phosphorylation. Publication Status: Online-Only, [RefSeq, PubMed]; PAX6 promotes neuroendocrine phenotypes of prostate cancer via enhancing MET/STAT5A-mediated chromatin accessibility. Erratum:[J Exp Clin Cancer Res. 2024 Jun 15;43(1):167. doi: 10.1186/s13046-024-03084-x. PMID: 38877572] Publication Status: Online-Only, [RefSeq, PubMed]; STAT5 is essential for inducing the suppressive subset and attenuate cytotoxicity of Vdelta2[+] T cells in acute myeloid leukemia., [RefSeq, PubMed]; The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated by, and mediates the responses of many cell ligands, such as IL2, IL3, IL7 GM-CSF, erythropoietin, thrombopoietin, and different growth hormones. Activation of this protein in myeloma and lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus and has been shown to be essential for tumorigenesis. The mouse counterpart of this gene is found to induce the expression of BCL2L1/BCL-X(L), which suggests the antiapoptotic function of this gene in cells. Alternatively spliced transcript variants have been found for this gene. [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": 24, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q1KLZ6", "ec_number_list": [], "go_molecular_function": "GO:0042301 phosphate ion binding;GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0035771 interleukin-4-mediated signaling pathway;GO:0038110 interleukin-2-mediated signaling pathway;GO:0030222 eosinophil differentiation;GO:0038043 interleukin-5-mediated signaling pathway;GO:0038156 interleukin-3-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 56.9, "record_id": "P42229-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15544-1", "uniprot_id": [ { "id": "TAF11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15544", "type": "external" } ], "mass": 23307.0, "length": 211, "protein_name": "Transcription initiation factor TFIID subunit 11", "gene_name": "TAF11", "organism": "Human", "refseq_name": "transcription initiation factor TFIID subunit 11 isoform 2", "refseq_ac": [ { "id": "NP_001257417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257417", "type": "external" } ], "gene_names_uniprotkb": "TAF11; PRO2134; TAF2I", "gene_names_refseq": "MGC:15243; PRO2134; TAF11; TAF2I; TAFII28", "protein_names_uniprotkb": "Transcription initiation factor TFIID subunit 11; TAF(II)28; TAFII-28; TAFII28; TFIID subunit p30-beta; Transcription initiation factor TFIID 28 kDa subunit", "protein_names_refseq": "TAF(II)28; TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa; TAFII-28; TATA box binding protein (TBP)-associated factor, RNA polymerase II, I, 28kD; TFIID subunit p30-beta; transcription initiation factor TFIID 28 kD subunit; transcription initiation factor TFIID 28 kDa subunit; transcription initiation factor TFIID subunit 11 isoform 2; transcription initiation factor TFIID subunit 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:6882); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-674695); (R-HSA-6804756); (R-HSA-6807505); (R-HSA-73776); (R-HSA-73779); (R-HSA-75953); (R-HSA-76042)", "pathway_count": 11, "publication_count": 153, "publication_id_list": "10022900;10024882;10199401;10435622;10500146;10570149;10604467;10673500;10673501;10710310;10723029;10884347;11237011;11239457;11433015;11447225;11486021;11511362;11546806;11551930;11739720;11740489;11780126;11784853;11856838;11859374;11884399;12064478;12393879;12414730;12574128;12676794;12702766;12851404;12914926;1310361;14701755;14702041;15053879;1535687;15489290;15866171;16239144;16308568;16322561;16901896;17108107;17349958;1739980;17525332;17591690;18079403;1829677;18490454;19121998;1939271;19667075;19965871;20068231;20457598;20959462;2125285;21317932;22137580;22231121;22252320;22441827;23000554;23166507;23481700;23485397;23676219;23932780;24097444;24145406;24270878;2449431;24874608;24997600;25576301;25675981;25880248;26375851;26992070;27846572;28063628;28228285;28832583;28834231;29111974;29242379;29331515;29393594;2944599;29493099;29508533;29632046;30315122;30429286;30779550;31222486;31844290;31848261;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33592498;33691108;33795473;33981976;34087483;34932366;35051231;35318648;35580925;36010968;36241641;36284347;7151173;7601352;7660122;7660129;7660130;7715707;7729427;8156590;8253082;8330735;8339931;8370526;8465201;8490964;8628262;8668525;8820923;8946909;9009278;9153304;9188510;9256425;9353262;9405375;9407024;9450929;9489704;9695952;9705341;9832505;9925639", "class_list": "", "function": "In an integrative approach combining crystal coordinates, biochemical analyses and data from cross-linking mass-spectrometry (CLMS), the authors determine the architecture of the TAF11/TAF13/TBP complex, revealing TAF11/TAF13 interaction with the DNA binding surface of TBP. Publication Status: Online-Only, [RefSeq, PubMed]; Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit of TFIID that is present in all TFIID complexes and interacts with TBP. This subunit also interacts with another small subunit, TAF13, to form a heterodimer with a structure similar to the histone core structure. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]., [RefSeq]; The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC) (PubMed:33795473). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13 (PubMed:33795473). TAF11, together with TAF13 and TBP, play key roles during promoter binding by the TFIID and TFIIA transcription factor complexes (PubMed:33795473)., [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R8R3;B4DY18;Q9UHS0", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0046982 protein heterodimerization activity;GO:0046966 nuclear thyroid hormone receptor binding;GO:0017025 TBP-class protein binding;GO:0042809 nuclear vitamin D receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005669 transcription factor TFIID complex", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0042789 mRNA transcription by RNA polymerase II;GO:0043923 host-mediated activation of viral transcription", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "Q15544-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HA38-1", "uniprot_id": [ { "id": "ZMAT3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HA38", "type": "external" } ], "mass": 32059.0, "length": 289, "protein_name": "Zinc finger matrin-type protein 3", "gene_name": "ZMAT3", "organism": "Human", "refseq_name": "zinc finger matrin-type protein 3 isoform 1", "refseq_ac": [ { "id": "NP_071915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071915", "type": "external" } ], "gene_names_uniprotkb": "ZMAT3; PAG608; WIG1", "gene_names_refseq": "PAG608; WIG-1; WIG1; ZMAT3", "protein_names_uniprotkb": "Zinc finger matrin-type protein 3; Zinc finger protein WIG-1; p53-activated gene 608 protein", "protein_names_refseq": "WIG-1/PAG608 protein; p53 target zinc finger protein; p53-activated gene 608 protein; zinc finger matrin-type protein 3 isoform 1; zinc finger protein WIG1", "tax_id": 9606, "disease": "", "pathway": " (hsa:64393)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;11571644;11689294;16844115;22645359;23481700;25576301;26375851;26811146;26992070;28218747;28472401;28832583;28855257;29242379;29393594;29437277;29557506;29632046;30315122;30410026;30429286;31154438;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32488085;33157015;33334821;33592498;33633747;34525951;35561310;35580925", "class_list": "", "function": "Acts as a bona fide target gene of p53/TP53. May play a role in the TP53-dependent growth regulatory pathway. May contribute to TP53-mediated apoptosis by regulation of TP53 expression and translocation to the nucleus and nucleolus., [UniProtKB, PubMed]; EIF5B regulates the expression of PD-L1 in prostate cancer cells by interacting with Wig1. Publication Status: Online-Only, [RefSeq, PubMed]; Results demonstrate that human Wig-1 can bind different types of double-stranded RNAs (dsRNAs), including dsRNAs resembling small interfering RNAs and microRNAs, and indicate that dsRNA binding has a role in Wig-1-mediated regulation of cell growth., [RefSeq, PubMed]; The p53-induced RNA-binding protein ZMAT3 is a splicing regulator that inhibits the splicing of oncogenic CD44 variants in colorectal carcinoma., [RefSeq, PubMed]; This gene encodes a protein containing three zinc finger domains and a nuclear localization signal. The mRNA and the protein of this gene are upregulated by wildtype p53 and overexpression of this gene inhibits tumor cell growth, suggesting that this gene may have a role in the p53-dependent growth regulatory pathway. Alternative splicing of this gene results in two transcript variants encoding two isoforms differing in only one amino acid. [provided by RefSeq, Jul 2008]., [RefSeq]; WIG1 governs the miRNA-dependent and the miRNA-independent recruitment of AGO2 to lower the stability of and suppress the translation of ACOT7 mRNA., [RefSeq, PubMed]; Zmat3 Is a Key Splicing Regulator in the p53 Tumor Suppression Program., [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": 12, "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": "B3KVA6;D3DNR1;Q96A21", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0015031 protein transport;GO:0006915 apoptotic process;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9HA38-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62826-1", "uniprot_id": [ { "id": "RAN_HUMAN", "url": "https://www.uniprot.org/uniprot/P62826", "type": "external" } ], "mass": 24423.0, "length": 216, "protein_name": "GTP-binding nuclear protein Ran", "gene_name": "RAN", "organism": "Human", "refseq_name": "GTP-binding nuclear protein Ran isoform 2", "refseq_ac": [ { "id": "NP_001287725", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287725", "type": "external" } ], "gene_names_uniprotkb": "RAN; ARA24; SW-cl.81", "gene_names_refseq": "ARA24; Gsp1; RAN; TC4", "protein_names_uniprotkb": "GTP-binding nuclear protein Ran; 3.6.5.-; Androgen receptor-associated protein 24; GTPase Ran; Ras-like protein TC4; Ras-related nuclear protein", "protein_names_refseq": "GTP-binding nuclear protein Ran isoform 2; GTP-binding nuclear protein Ran; GTPase Ran; RanGTPase; androgen receptor-associated protein 24; guanosine triphosphatase Ran; member RAS oncogene family; ras-like protein TC4; ras-related nuclear protein", "tax_id": 9606, "disease": "sciatic neuropathy (Disease Ontology:DOID:11446); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:5901); (R-HSA-165054); (R-HSA-1655829); (R-HSA-168333); (R-HSA-180746); (R-HSA-203927); (R-HSA-5578749); (R-HSA-6784531); (R-HSA-9615933)", "pathway_count": 9, "publication_count": 310, "publication_id_list": "10078529;10209022;10353245;10367892;10397761;10400640;10408446;10428864;10444065;10644685;10679025;10805775;10911995;11118210;11124902;11201747;11231159;11231581;11237011;11283257;11289803;11336674;11425870;11451485;11452083;11455963;11571268;11727826;11832950;11836381;11871657;11932251;12138183;12194828;12411504;12411505;12526808;12711671;12729736;12808100;13130130;14500717;14508493;14612415;14631048;14645851;14654843;14681208;14684163;14730017;15109492;15284456;15317868;15364901;15372072;15525708;15531877;15550381;15574331;15574589;15592455;15643423;15973356;16142218;16271386;16357216;16361254;16373483;16424907;16428860;16497976;16608852;16710424;16930555;16936726;17057362;17081065;17081640;17085592;17098863;17099701;17204286;17209048;17224653;17235358;17449569;17452327;17531811;17932509;18083107;18178619;18226598;18266911;18316408;1855255;18591255;18611384;18617507;18691969;18728384;18782830;18809514;18842624;18852463;18978028;18984158;19167051;19383768;19383769;19389996;19398495;19401777;1944575;19505478;19608861;1961752;19748539;19753112;19966796;20068231;2017166;20485264;20805321;20953181;20974814;2108320;21209280;21311021;21427083;21450806;21559454;21589992;21593607;21726814;21740066;22064859;22106413;22121020;22163034;22223895;22424782;22445173;22617051;22645359;22722852;22844086;22944664;22961379;23063121;23063653;23150874;23186163;23251028;23511973;23531496;23624860;23661684;23719902;23878195;23882114;24086155;24366607;24388755;24449914;24596094;2470644;24715725;24870230;24915079;25313066;25326327;25331866;25502872;25568082;25576301;25602437;25640237;25723178;25793518;25810538;25849199;25880248;26024233;26154972;26272610;26304119;26349033;26811146;26824387;26992070;27306458;27726376;27846572;27862975;28282025;28467828;28510447;28904123;29040603;29130391;29437277;29493099;29557506;30315122;30410026;30429286;30444036;30573663;30833945;31020640;31075303;31217245;31222486;31530632;31844290;31848261;31875875;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34405274;34433824;34509645;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37217939;37473800;37563360;37938771;38336287;38665916;39041645;39990658;40914422;6930639;7759547;7819259;7828588;7878053;7885480;7891706;7958838;8113738;8156598;8276887;8421051;8636225;8674110;8692944;8805303;8896452;9019411;9092824;9214382;9323133;9351834;9405152;9428644;9488713;9497385;9512417;9634703;9659902;9660920;9822603;9837918", "class_list": "", "function": "Association of RAN and RANBP2 Gene Polymorphisms With Glioma Susceptibility in Chinese Children., [RefSeq, PubMed]; B-type Plexins promote the GTPase activity of Ran to affect androgen receptor nuclear translocation in prostate cancer., [RefSeq, PubMed]; Development and validation of Ran as a prognostic marker in stage I and stage II primary breast cancer. Erratum:[Life Sci. 2023 Oct 15;331:122075. doi: 10.1016/j.lfs.2023.122075. PMID: 37696731], [RefSeq, PubMed]; GTP-binding protein involved in nucleocytoplasmic transport. Required for the import of protein into the nucleus and also for RNA export. Involved in chromatin condensation and control of cell cycle., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; GTPase involved in nucleocytoplasmic transport, participating both to the import and the export from the nucleus of proteins and RNAs (PubMed:10400640, PubMed:17209048, PubMed:26272610, PubMed:27306458, PubMed:8276887, PubMed:8636225, PubMed:8692944, PubMed:8896452, PubMed:9351834, PubMed:9428644, PubMed:9822603). Switches between a cytoplasmic GDP- and a nuclear GTP-bound state by nucleotide exchange and GTP hydrolysis (PubMed:11336674, PubMed:26272610, PubMed:29040603, PubMed:7819259, PubMed:8636225, PubMed:8692944, PubMed:8896452, PubMed:9351834, PubMed:9428644, PubMed:9822603). Nuclear import receptors such as importin beta bind their substrates only in the absence of GTP-bound RAN and release them upon direct interaction with GTP-bound RAN, while export receptors behave in the opposite way. Thereby, RAN controls cargo loading and release by transport receptors in the proper compartment and ensures the directionality of the transport (PubMed:8896452, PubMed:9351834, PubMed:9428644). Interaction with RANBP1 induces a conformation change in the complex formed by XPO1 and RAN that triggers the release of the nuclear export signal of cargo proteins (PubMed:20485264). RAN (GTP-bound form) triggers microtubule assembly at mitotic chromosomes and is required for normal mitotic spindle assembly and chromosome segregation (PubMed:10408446, PubMed:29040603). Required for normal progress through mitosis (PubMed:12194828, PubMed:29040603, PubMed:8421051). The complex with BIRC5/survivin plays a role in mitotic spindle formation by serving as a physical scaffold to help deliver the RAN effector molecule TPX2 to microtubules (PubMed:18591255). Acts as a negative regulator of the kinase activity of VRK1 and VRK2 (PubMed:18617507). Enhances AR-mediated transactivation. Transactivation decreases as the poly-Gln length within AR increases (PubMed:10400640)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; RAN (ras-related nuclear protein) is a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The RAN protein is also involved in control of DNA synthesis and cell cycle progression. Nuclear localization of RAN requires the presence of regulator of chromosome condensation 1 (RCC1). Mutations in RAN disrupt DNA synthesis. Because of its many functions, it is likely that RAN interacts with several other proteins. RAN regulates formation and organization of the microtubule network independently of its role in the nucleus-cytosol exchange of macromolecules. RAN could be a key signaling molecule regulating microtubule polymerization during mitosis. RCC1 generates a high local concentration of RAN-GTP around chromatin which, in turn, induces the local nucleation of microtubules. RAN is an androgen receptor (AR) coactivator that binds differentially with different lengths of polyglutamine within the androgen receptor. Polyglutamine repeat expansion in the AR is linked to Kennedy's disease (X-linked spinal and bulbar muscular atrophy). RAN coactivation of the AR diminishes with polyglutamine expansion within the AR, and this weak coactivation may lead to partial androgen insensitivity during the development of Kennedy's disease. [provided by RefSeq, Jul 2008]., [RefSeq]; Up-regulation of RAN by MYBL2 maintains osteosarcoma cancer stem-like cells population during heterogeneous tumor generation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 14, "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": "A8K3Z8;P17080;P28746;P28747;Q6IPB2;Q86V08;Q8NI90;Q9CSP3;Q9CWI7;Q9CZA2;Q9UDJ5;Q9UEU9", "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": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "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": "3.1.26.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.n2", "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:0061676 importin-alpha family protein binding;GO:0000287 magnesium ion binding;GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0003924 GTPase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0000055 ribosomal large subunit export from nucleus;GO:1902570 protein localization to nucleolus;GO:0061015 snRNA import into nucleus;GO:0000278 mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 31.3, "record_id": "P62826-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99767-1", "uniprot_id": [ { "id": "APBA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99767", "type": "external" } ], "mass": 82512.0, "length": 749, "protein_name": "Amyloid-beta A4 precursor protein-binding family A member 2", "gene_name": "APBA2", "organism": "Human", "refseq_name": "amyloid-beta A4 precursor protein-binding family A member 2 isoform b", "refseq_ac": [ { "id": "NP_001123886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123886", "type": "external" } ], "gene_names_uniprotkb": "APBA2; MINT2; X11L", "gene_names_refseq": "APBA2; D15S1518E; HsT16821; LIN-10; MGC:14091; MINT2; X11-BETA; X11L", "protein_names_uniprotkb": "Amyloid-beta A4 precursor protein-binding family A member 2; Adapter protein X11beta; Mint-2; Neuron-specific X11L protein; Neuronal Munc18-1-interacting protein 2", "protein_names_refseq": "X11-like protein; adapter protein X11beta; amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like); amyloid-beta A4 precursor protein-binding family A member 2 isoform b; mint-2; neuron-specific X11L protein; neuronal munc18-1-interacting protein 2; phosphotyrosine-binding/-interacting domain (PTB)-bearing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:321); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "10833507;11237011;11604393;15345747;15540461;16242404;16624946;16846852;17897391;18812509;18829961;19222704;19413330;19664995;20064387;20064388;20519524;21282647;23186163;25378172;26154972;26992070;29557506;30315122;31092671;31217245;31222486;31844290;32157095;33298915;33392160;34087483;35051231;35580925;7695896;7736595;8576240;9069287;9395480;9614075;9808458;9890987;9927700", "class_list": "", "function": "Putative function in synaptic vesicle exocytosis by binding to STXBP1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta., [UniProtKB]; The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "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": "E9PGI4;O60571;Q5XKC0", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0043197 dendritic spine;GO:0098793 presynapse", "go_biological_process": "GO:0007399 nervous system development;GO:0015031 protein transport;GO:0007268 chemical synaptic transmission;GO:0099171 presynaptic modulation of chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q99767-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVL7-1", "uniprot_id": [ { "id": "ANR49_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVL7", "type": "external" } ], "mass": 27290.0, "length": 239, "protein_name": "Ankyrin repeat domain-containing protein 49", "gene_name": "ANKRD49", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 49", "refseq_ac": [ { "id": "NP_060174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060174", "type": "external" } ], "gene_names_uniprotkb": "ANKRD49; FGIF", "gene_names_refseq": "ANKRD49; FGIF; GBIF", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 49; Fetal globin-inducing factor", "protein_names_refseq": "ankyrin repeat domain-containing protein 49; fetal globin-inducing factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:54851)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11162141;11237011;16131492;19773279;24275569;29242379;29865034;30798416;31844290;31848261;33968037", "class_list": "", "function": "Induces HBG1 expression (PubMed:11162141, PubMed:16131492). May have a role in spermatogenesis where it promotes autophagy in response to serum starvation, via the NF-kappaB pathway (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The results of the present study highlighted an important role of the ANKRD49 protein in the progression of gastric cancer. The ANKRD49 protein could act as a potential biomarker for prognosis evaluation of gastric cancer and may be used as a molecular target for gastric cancer treatment., [RefSeq, PubMed]; These results suggest that ANKRD49 plays an important role in reducing intrinsic apoptosis of GC-1 cells by modulating the NF-kappaB 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q8NDF2;Q96JE5;Q9NXK7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8WVL7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16643-1", "uniprot_id": [ { "id": "DREB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16643", "type": "external" } ], "mass": 71429.0, "length": 649, "protein_name": "Drebrin", "gene_name": "DBN1", "organism": "Human", "refseq_name": "drebrin isoform c", "refseq_ac": [ { "id": "NP_001350470", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001350470", "type": "external" } ], "gene_names_uniprotkb": "DBN1; D0S117E", "gene_names_refseq": "D0S117E; DBN1", "protein_names_uniprotkb": "Drebrin; Developmentally-regulated brain protein", "protein_names_refseq": "developmentally-regulated brain protein; drebrin A; drebrin E2; drebrin isoform c", "tax_id": 9606, "disease": "erythrokeratodermia variabilis (Disease Ontology:DOID:0050467); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); Alzheimer's disease 1 (Disease Ontology:DOID:0080348); autosomal recessive nonsyndromic deafness 1A (Disease Ontology:DOID:0110475); autosomal dominant nonsyndromic deafness 2B (Disease Ontology:DOID:0110559); erythrokeratodermia variabilis et progressiva 1 (Disease Ontology:DOID:0111195); Alzheimer's disease (Disease Ontology:DOID:10652); sciatic neuropathy (Disease Ontology:DOID:11446); Down syndrome (Disease Ontology:DOID:14250); Parkinson's disease (Disease Ontology:DOID:14330); cognitive disorder (Disease Ontology:DOID:1561); transient cerebral ischemia (Disease Ontology:DOID:224); temporal lobe epilepsy (Disease Ontology:DOID:3328)", "pathway": " (hsa:1627); (R-HSA-9013405); (R-HSA-9013407); (R-HSA-9013418); (R-HSA-9013422)", "pathway_count": 5, "publication_count": 124, "publication_id_list": "11237011;11368848;11784792;11809807;12577064;12665801;15107402;15302935;15345747;15592455;16094384;16959974;17028588;17064668;17081983;17287340;17322306;17916560;18077418;18088087;18212344;18220336;18452278;18491316;18578522;18669648;18707149;18767875;18835386;19413330;19415658;19651622;19664995;19690332;20058876;20068231;20166139;20184954;20215400;20851766;21406692;22665057;23087206;23096567;23186163;23301498;23979715;24102721;24275569;24608665;24715725;25502872;25576301;25645385;25746724;25945928;26853435;27314390;27481945;27600516;27846572;27852748;27869121;27941885;28319065;28486133;28649982;28832583;28904123;28947137;28966017;29093164;29242379;29510700;29557506;29776664;29786170;29789417;30484775;30625038;30896450;31154438;31222486;31431478;31844290;31848261;31871319;32157095;32161166;32350084;32938616;33453340;33592498;33739391;33968037;33981976;34078123;34087483;34357683;34725712;35051231;35154160;35251023;35254053;35561310;35580925;35916866;36155064;36241641;36284347;36690273;37938771;38665916;39302247;39531497;39990658;40136647;40307207;40596516;41018975;41350704;8216329;8838578;8945468", "class_list": "", "function": "Actin cytoskeleton-organizing protein that plays a role in the formation of cell projections (PubMed:20215400). Required for actin polymerization at immunological synapses (IS) and for the recruitment of the chemokine receptor CXCR4 to IS (PubMed:20215400). Plays a role in dendritic spine morphogenesis and organization, including the localization of the dopamine receptor DRD1 to the dendritic spines (By similarity). Involved in memory-related synaptic plasticity in the hippocampus (By similarity)., [UniProtKB, PubMed, UniProtKB]; Actin cytoskeleton-organizing protein that plays a role in the formation of cell projections. Required for actin polymerization at immunological synapses (IS) and for the recruitment of the chemokine receptor CXCR4 to IS. Plays a role in dendritic spine morphogenesis and organization, including the localization of the dopamine receptor DRD1 to the dendritic spines. Involved in memory-related synaptic plasticity in the hippocampus., [UniProtKB, UniProtKB, UniProtKB]; Drebrin promotes lung adenocarcinoma cell migration through inducing integrin beta1 endocytosis., [RefSeq, PubMed]; Effects of neuronal drebrin on actin dynamics. Review article, [RefSeq, PubMed]; Physical interaction between BAALC and DBN1 induces chemoresistance in leukemia., [RefSeq, PubMed]; The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer's disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; The well-developed actin cytoskeleton and Cthrc1 expression by actin-binding protein drebrin in myofibroblasts promote cardiac and hepatic fibrosis., [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": 22, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 13, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8MV58;B2RBG0;Q9UFZ5", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0045296 cadherin binding;GO:0005522 profilin binding;GO:0140311 protein sequestering activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0014069 postsynaptic density;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0007015 actin filament organization;GO:0031915 positive regulation of synaptic plasticity;GO:0048168 regulation of neuronal synaptic plasticity;GO:0061003 positive regulation of dendritic spine morphogenesis;GO:0048699 generation of neurons", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "Q16643-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96P64-1", "uniprot_id": [ { "id": "AGAP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96P64", "type": "external" } ], "mass": 73070.0, "length": 663, "protein_name": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4", "gene_name": "AGAP4", "organism": "Human", "refseq_name": "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 isoform 1", "refseq_ac": [ { "id": "NP_001263272", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263272", "type": "external" } ], "gene_names_uniprotkb": "AGAP4; AGAP8; CTGLF1; CTGLF5; MRIP2", "gene_names_refseq": "AGAP-4; AGAP-8; AGAP4; AGAP8; CTGLF1; CTGLF5; MRIP2", "protein_names_uniprotkb": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4; AGAP-4; Centaurin-gamma-like family member 1; Centaurin-gamma-like family member 5", "protein_names_refseq": "ARF GTPase-activating protein; ArfGAP with GTPase domain, ankyrin repeat and PH domain 8; arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 isoform 1; arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4; arf-GAP with GTPase, ANK repeat and PH domain-containing protein 8; centaurin, gamma-like family, member 1; centaurin, gamma-like family, member 5", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:119016)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;29393594;39894887", "class_list": "", "function": "Putative GTPase-activating protein., [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": 0, "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": "", "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": 0.6, "record_id": "Q96P64-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54802-1", "uniprot_id": [ { "id": "ANAG_HUMAN", "url": "https://www.uniprot.org/uniprot/P54802", "type": "external" } ], "mass": 82266.0, "length": 743, "protein_name": "Alpha-N-acetylglucosaminidase", "gene_name": "NAGLU", "organism": "Human", "refseq_name": "alpha-N-acetylglucosaminidase precursor", "refseq_ac": [ { "id": "NP_000254", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000254", "type": "external" } ], "gene_names_uniprotkb": "NAGLU; UFHSD1", "gene_names_refseq": "CMT2V; MPS-IIIB; MPS3B; NAGLU; NAG; UFHSD", "protein_names_uniprotkb": "Alpha-N-acetylglucosaminidase; 3.2.1.50; N-acetyl-alpha-glucosaminidase; NAG", "protein_names_refseq": "N-acetylglucosaminidase, alpha; alpha-N-acetylglucosaminidase precursor; alpha-N-acetylglucosaminidase; testicular tissue protein Li 18", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease axonal type 2V (Disease Ontology:DOID:0110178); mucopolysaccharidosis type IIIB (Disease Ontology:DOID:0111394); otitis media (Disease Ontology:DOID:10754); mucopolysaccharidosis III (Disease Ontology:DOID:12801)", "pathway": " (hsa:4669); (R-HSA-2024096); (R-HSA-2206282)", "pathway_count": 3, "publication_count": 120, "publication_id_list": "10.1007/s00018-021-03863-1;10.1101/2023.09.13.557529;10094189;10446189;10466419;11027606;11068184;11153910;11237011;11286389;11668611;11793481;11836372;12202988;12213822;12441129;12927802;14984474;15647514;15933803;16151907;16960811;17033958;18218046;19159218;1946389;19664995;20560209;20560210;20576607;20650889;2122463;21937992;22424782;23090970;23345538;23481700;24190977;24715725;25466957;25502872;25645385;25818867;25880248;25892735;26154972;26992070;27600516;27862975;27893789;27920218;28101780;28218747;28228285;28467828;28514659;28832583;28855257;28904123;29242379;29391424;29437277;29557506;29632711;29671580;29741879;29769354;29786170;29955133;30192525;30315122;30410026;30429286;30484775;30524438;30802506;31217245;31825816;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33968037;33981976;34087483;34089345;34171305;34185709;34357683;34433824;34509645;35051231;35138101;35241468;35251023;35580925;36241641;36284347;37074911;38665916;7493035;8650226;8703123;8776591;9285796;9443875;9443878;9832037;9950362", "class_list": "glycogene;glycosylhydrolase", "function": "Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome., [RefSeq, PubMed]; Involved in the degradation of heparan sulfate., [UniProtKB]; Structural characterization of the NAGLU, a key enzyme in the pathogenesis of Sanfilippo syndrome B, has been reported., [RefSeq, PubMed]; This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]., [RefSeq]; Variations of urinary N-acetyl-beta-D-glucosaminidase levels and its performance in detecting acute kidney injury under different thyroid hormones levels: a prospectively recruited, observational study. Publication Status: Online-Only, [RefSeq, PubMed]; We identified and characterised oncogenic fusion genes and their function in CRC, and implicated NAGLU-IKZF3 and RNF121-FOLR2 as novel molecular targets for personalised medicine development., [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1166, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 71, "disease_count": 4, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.2.1.50", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.50", "type": "external" } ], "go_molecular_function": "GO:0004561 alpha-N-acetylglucosaminidase activity;GO:0140315 iron ion sequestering activity", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0005764 lysosome;GO:0043202 lysosomal lumen;GO:0005773 vacuole", "go_biological_process": "GO:0007399 nervous system development;GO:0030200 heparan sulfate proteoglycan catabolic process;GO:0030202 heparin proteoglycan metabolic process", "synthesized_glycan_count": 0, "hit_score": 19.9, "record_id": "P54802-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96CM8-1", "uniprot_id": [ { "id": "ACSF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96CM8", "type": "external" } ], "mass": 68125.0, "length": 615, "protein_name": "Medium-chain acyl-CoA ligase ACSF2, mitochondrial", "gene_name": "ACSF2", "organism": "Human", "refseq_name": "medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform 1", "refseq_ac": [ { "id": "NP_001275897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275897", "type": "external" } ], "gene_names_uniprotkb": "ACSF2; PRO1009", "gene_names_refseq": "ACSF2; ACSMW; AVYV493", "protein_names_uniprotkb": "Medium-chain acyl-CoA ligase ACSF2, mitochondrial; 6.2.1.2", "protein_names_refseq": "PPARG binding, long chain fatty acid acyl Co-A ligase like; acyl-CoA synthetase family member 2, mitochondrial; medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform 1; medium-chain acyl-CoA ligase ACSF2, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:80221); (R-HSA-77289)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "11237011;11696000;12882974;12975309;15638818;16380219;16423998;16934754;16940157;17762044;17953517;18268358;18491316;19170545;20338778;20470824;20877624;21237683;22465940;22586271;22871024;23700546;23901139;24080521;24732803;25002576;26290611;29351928;29393594;29557506;31154438;31530632;31844290;31848261;31998317;32387766;32938616;33592498;33717175;34357683;35051231;35494241;35580925;38676722;4721607;8241273", "class_list": "", "function": "ACSF2 and lysine lactylation contribute to renal tubule injury in diabetes., [RefSeq, PubMed]; Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA (PubMed:17762044). Has some preference toward medium-chain substrates (PubMed:17762044). Plays a role in adipocyte differentiation (PubMed:16380219)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; 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": 3, "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": "B4DFQ6;B4DHT5;B4DUF5;Q9H7G2", "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:0004467 long-chain fatty acid-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:0006631 fatty acid metabolic process;GO:0006637 acyl-CoA metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q96CM8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPY3-1", "uniprot_id": [ { "id": "DICER_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPY3", "type": "external" } ], "mass": 218682.0, "length": 1922, "protein_name": "Endoribonuclease Dicer", "gene_name": "DICER1", "organism": "Human", "refseq_name": "endoribonuclease Dicer isoform 2", "refseq_ac": [ { "id": "NP_001182502", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182502", "type": "external" } ], "gene_names_uniprotkb": "DICER1; DICER; HERNA; KIAA0928", "gene_names_refseq": "DCR1; DICER1; Dicer1e; Dicer; GLOW; HERNA; K12H4.8-LIKE; MNG1; RMSE2; aviD", "protein_names_uniprotkb": "Endoribonuclease Dicer; 3.1.26.3; Helicase MOI; Helicase with RNase motif", "protein_names_refseq": "Dicer1, Dcr-1 homolog; dicer 1, double-stranded RNA-specific endoribonuclease; dicer 1, ribonuclease type III; endoribonuclease Dicer isoform 2; endoribonuclease Dicer; helicase MOI; helicase with RNAse motif", "tax_id": 9606, "disease": "multinodular goiter (Disease Ontology:DOID:0050489); diffuse large B-cell lymphoma (Disease Ontology:DOID:0050745); nephroma (Disease Ontology:DOID:0080615); DICER1 syndrome (Disease Ontology:DOID:0081063); stomach cancer (Disease Ontology:DOID:10534); DiGeorge syndrome (Disease Ontology:DOID:11198); dilated cardiomyopathy (Disease Ontology:DOID:12930); middle cerebral artery infarction (Disease Ontology:DOID:3525); pleuropulmonary blastoma (Disease Ontology:DOID:4769); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256); global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome (MONDO:MONDO:0018445); rhabdomyosarcoma, embryonal, 2 (MONDO:MONDO:0859046)", "pathway": " (hsa:23405); (R-HSA-203927); (R-HSA-426486); (R-HSA-9708296); (R-HSA-9820841); (R-HSA-9824594)", "pathway_count": 6, "publication_count": 193, "publication_id_list": "10.1101/2023.09.13.557529;10051563;10786632;11201747;11237011;11452083;12411504;12411505;1400510;14508493;14631048;14681208;14730017;14744763;14749716;15242644;15284456;15364901;15372072;15507434;15525708;15531877;15574589;15592455;15973356;16142218;16271386;16271387;16289642;16357216;16424907;17057362;17099701;17452327;17507929;17531811;17920623;17932509;18178619;18327259;18669648;18690212;18728384;18782830;18842624;19022417;19114040;19219043;19332886;19401777;19413330;19556464;19664994;19729508;19850906;19933153;19966796;20129916;20184375;20615407;20972213;21205968;21228243;21406692;21552258;21726814;21855800;21882293;22106413;22163034;22187960;22647378;22844086;23063121;23063653;23183536;23186163;23251028;23297232;23301498;23511973;23531496;23624860;23658827;23661684;24397554;24676357;24714562;24715725;25142731;25270025;25326327;25418920;25567797;25568082;25576301;25793518;25880248;26124144;26154972;26375851;26566882;26811146;26925222;26929215;26992070;2730651;27345152;27600516;27846572;27862975;27920218;28218747;28228285;28642363;28832583;28834231;28904123;28933615;29242379;29393594;29394246;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29844106;30192525;30315122;30379171;30410026;30429286;30484775;30779550;30804224;30833945;31092671;31154438;31217245;31222486;31530632;31582561;31844290;31848261;31998317;32138588;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32502391;32938616;32983136;33091337;33141586;33298915;33392160;33592498;33717175;33912179;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34509645;34561969;34647228;34932366;35051231;35580925;35995401;36010968;36215666;36284347;36581221;37938771;39127354;39283830;39409030;40307207;40914422;9537257;9806836", "class_list": "", "function": "DICER1 Variants in Pediatric and Young Adult Thyroid Nodules., [RefSeq, PubMed]; DICER1-sarcomas of GYN tract: Expanding on an emerging entity., [RefSeq, PubMed]; Double-stranded RNA (dsRNA) endoribonuclease playing a central role in short dsRNA-mediated post-transcriptional gene silencing. Cleaves naturally occurring long dsRNAs and short hairpin pre-microRNAs (miRNA) into fragments of twenty-one to twenty-three nucleotides with 3' overhang of two nucleotides, producing respectively short interfering RNAs (siRNA) and mature microRNAs. SiRNAs and miRNAs serve as guide to direct the RNA-induced silencing complex (RISC) to complementary RNAs to degrade them or prevent their translation. Gene silencing mediated by siRNAs, also called RNA interference, controls the elimination of transcripts from mobile and repetitive DNA elements of the genome but also the degradation of exogenous RNA of viral origin for instance. The miRNA pathway on the other side is a mean to specifically regulate the expression of target genes., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. This protein also acts as a strong antiviral agent with activity against RNA viruses, including the Zika and SARS-CoV-2 viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2021]., [RefSeq]; Understanding the Dosage-Dependent Role of Dicer1 in Thyroid Tumorigenesis. 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": 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": 12, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 120, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 13, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A7E2D3;B3KRG4;E0AD28;O95943;Q9UQ02", "ec_number_list": [ { "id": "3.1.26.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.n2", "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:0005524 ATP binding;GO:0019904 protein domain specific binding;GO:0046872 metal ion binding;GO:0003725 double-stranded RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0070922 RISC complex assembly;GO:0016078 tRNA decay;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0010629 negative regulation of gene expression;GO:0032720 negative regulation of tumor necrosis factor production", "synthesized_glycan_count": 0, "hit_score": 19.8, "record_id": "Q9UPY3-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16853-1", "uniprot_id": [ { "id": "AOC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16853", "type": "external" } ], "mass": 84622.0, "length": 763, "protein_name": "Amine oxidase [copper-containing] 3", "gene_name": "AOC3", "organism": "Human", "refseq_name": "amine oxidase [copper-containing] 3 isoform 2", "refseq_ac": [ { "id": "NP_001264660", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264660", "type": "external" } ], "gene_names_uniprotkb": "AOC3; VAP1", "gene_names_refseq": "AOC3; HPAO; SSAO; VAP-1; VAP1", "protein_names_uniprotkb": "Amine oxidase [copper-containing] 3; 1.4.3.21; Amine oxidase copper-containing 3; Copper amine oxidase; HPAO; SSAO; Semicarbazide-sensitive amine oxidase; VAP-1; Vascular adhesion protein 1", "protein_names_refseq": "amine oxidase [copper-containing] 3 isoform 2; amine oxidase [copper-containing] 3; amine oxidase, copper containing 3 (vascular adhesion protein 1); copper amine oxidase; membrane primary amine oxidase; placenta copper monamine oxidase; semicarbazide-sensitive amine oxidase", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); intracranial aneurysm (Disease Ontology:DOID:10941); uveitis (Disease Ontology:DOID:13141); aortic aneurysm (Disease Ontology:DOID:3627); congestive heart failure (Disease Ontology:DOID:6000); diabetic retinopathy (Disease Ontology:DOID:8947); cerebral amyloid angiopathy (Disease Ontology:DOID:9246); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:8639); (R-HSA-211945)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "10445380;10945627;11154734;11237011;11422004;12097405;12725862;12732646;1351198;14585497;15242332;15350128;15492766;15523003;15535985;16046623;16239734;16335952;16614850;16765324;17400359;18254726;18256025;18285471;19053771;19139490;19159218;19588076;19764817;20007405;20177059;20422440;20542992;22700792;22813719;23090970;23349812;23616950;23953689;24190977;24304424;24423752;24677340;24900196;25144769;25425164;25446851;25923589;27862975;28904123;2897122;29557506;29741879;29789417;30160019;30459171;31154438;31848261;32152082;32157095;32171872;32187464;32205870;32210741;32582936;32983136;33727640;33805974;34185709;35051231;35174543;35580925;37074911;37253043;37938771;38461356;7980644;8972912;8985016;9169443;9254657;9367528;9653080", "class_list": "", "function": "Catalyzes the oxidative deamination of primary amines to the corresponding aldehydes with the concomitant production of hydrogen peroxide and ammonia (PubMed:19588076, PubMed:24304424, PubMed:9653080). Has a preference for the primary monoamines methylamine and benzylamine (PubMed:19588076, PubMed:9653080). Could also act on 2-phenylethylamine but much less efficiently (PubMed:19588076). At endothelial cells surface can also function as a cell adhesion protein that participates in lymphocyte extravasation and recirculation by mediating the binding of lymphocytes to peripheral lymph node vascular endothelial cells in an L-selectin-independent fashion (PubMed:9254657, PubMed:9653080)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Crosstalk of cell death pathways unveils an autophagy-related gene AOC3 as a critical prognostic marker in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Data suggest that the down-regulation of both the expression and enzymatic activity of VAP-1 may result from a dominant-negative effect caused by heterodimerization between VAP-1 and alternatively spliced VAP-1Delta3., [RefSeq, PubMed]; Downregulation of VAP-1 in OSCC suppresses tumor growth and metastasis via NF-kappaB/IL-8 signaling and reduces neutrophil infiltration., [RefSeq, PubMed]; Has no semicarbazide-sensitive amine oxidase (SSAO) activity., [UniProtKB, PubMed]; NG2/CSPG4, CD146/MCAM and VAP1/AOC3 are regulated by myocardin-related transcription factors in smooth muscle cells. Publication Status: Online-Only, [RefSeq, PubMed]; SSAO/VAP-1 in Cerebrovascular Disorders: A Potential Therapeutic Target for Stroke and Alzheimer's Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Soluble Vascular Adhesion Protein 1 (sVAP-1) as a biomarker for pregnancy complications: A pilot study. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]., [RefSeq]; VAP-1 is expressed on hepatic sinusoidal endothelial cells in vitro and supports adhesion and transmigration of lymphocytes across these cells under physiological shear stress., [RefSeq, 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": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 3, "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": 6, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "monitoring; prognostic", "glycan_count": 47, "disease_count": 10, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B2RCI5;K7ESB3;L0L8N9;Q45F94", "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:0042802 identical protein binding;GO:0046982 protein heterodimerization activity;GO:0005509 calcium ion binding;GO:0005507 copper ion binding;GO:0008131 primary methylamine oxidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0007155 cell adhesion;GO:0009308 amine metabolic process", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "Q16853-1", "record_type": "protein", "filter_code": "0101000.1100111.100000.000000000001000000.1100100001000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H1A4-1", "uniprot_id": [ { "id": "APC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H1A4", "type": "external" } ], "mass": 216500.0, "length": 1944, "protein_name": "Anaphase-promoting complex subunit 1", "gene_name": "ANAPC1", "organism": "Human", "refseq_name": "anaphase-promoting complex subunit 1", "refseq_ac": [ { "id": "NP_073153", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073153", "type": "external" } ], "gene_names_uniprotkb": "ANAPC1; TSG24", "gene_names_refseq": "ANAPC1; APC1; MCPR; TSG24", "protein_names_uniprotkb": "Anaphase-promoting complex subunit 1; APC1; Cyclosome subunit 1; Mitotic checkpoint regulator; Testis-specific gene 24 protein", "protein_names_refseq": "anaphase-promoting complex 1 (meiotic checkpoint regulator); anaphase-promoting complex subunit 1; cyclosome subunit 1; mitotic checkpoint regulator; testis-specific gene 24 protein", "tax_id": 9606, "disease": "Rothmund-Thomson syndrome (Disease Ontology:DOID:2732); Rothmund-Thomson syndrome type 1 (MONDO:MONDO:0016368)", "pathway": " (hsa:64682); (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": 227, "publication_id_list": "10201372;10318916;10339564;10411507;10432220;10548110;10679238;10733526;10793135;10884341;10995389;11046155;11062501;11081627;11114305;11125146;11179667;11237011;11248027;11285280;11340163;11350924;11371342;11509732;11535616;11562349;11598127;11742988;11859075;11988738;12006501;12070128;12194817;12446569;12646216;12832467;14657031;14672932;14679213;14734113;14743218;15014503;15029244;15224091;15224092;15469821;15571818;15678131;15737063;15774718;16364912;16413484;16565220;16595681;16626623;16648845;16824194;16849449;16954532;16964243;17081983;17187060;17234884;17322306;17485488;18212344;18220336;18267069;18411265;18452278;18485873;18555777;18555778;18662542;18669648;18691976;18767875;19007248;19028597;19352404;19413330;19415658;19452197;19489725;19651622;19664994;19664995;19690332;19691289;19805069;19851334;19874575;19896182;19940261;20028861;20068231;20351173;20452968;21325273;21406692;21670496;2183031;21979375;22084091;22178396;22424782;22544926;2261476;22634325;22885700;23186163;23301498;23481700;23603117;23846687;23851460;2405250;24275569;24706756;24714562;24715725;25043029;25231993;25418920;25469497;25576301;25645385;25880248;25892735;26083744;26154972;26222030;26375851;26728094;26929215;26992070;27120157;27249176;27509861;27600516;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28855257;28904123;29033132;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30059200;30315122;30410026;30429286;30482618;30484775;30524438;30894546;31217245;31303264;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33082289;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34509645;34561969;34846842;34932366;35051231;35251023;35254053;35289036;35561310;35580925;35956818;36010968;36215666;36241641;36284347;36581221;37938771;40596516;8234276;8384717;8413215;8413306;8617720;8688489;8884985;8939459;9380723;9635433;9668046;9892021", "class_list": "", "function": "Antibody for Serine 65 Phosphorylated Ubiquitin Identifies PLK1-Mediated Phosphorylation of Mitotic Proteins and APC1. Publication Status: Online-Only, [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]; Dimerization regulates the human APC/C-associated ubiquitin-conjugating enzyme UBE2S. Publication Status: Online-Only, [RefSeq, PubMed]; Fibroblast studies showed that the intronic mutation causes the activation of a 95 bp pseudoexon, leading to mRNAs with premature termination codons and nonsense-mediated decay, decreased ANAPC1 protein levels, and prolongation of interphase, [RefSeq, PubMed]; Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density. Publication Status: Online-Only, [RefSeq, PubMed]; The anaphase promoting complex/cyclosome (APC/C) E3 ligase is not simply an interaction hub, but a dynamic, multifunctional molecular machine whose structure is remodeled by binding partners to achieve temporal ubiquitylation regulating cell division [Review]. Review article, [RefSeq, PubMed]; This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [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": 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": 41, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "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": "Q2M3H8;Q9BSE6;Q9H8D0", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity", "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": 23.2, "record_id": "Q9H1A4-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ULP2-1", "uniprot_id": [ { "id": "AFTIN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ULP2", "type": "external" } ], "mass": 102113.0, "length": 936, "protein_name": "Aftiphilin", "gene_name": "AFTPH", "organism": "Human", "refseq_name": "aftiphilin isoform c", "refseq_ac": [ { "id": "NP_001002243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002243", "type": "external" } ], "gene_names_uniprotkb": "AFTPH; AFTH", "gene_names_refseq": "AFTPH; Nbla10388", "protein_names_uniprotkb": "Aftiphilin", "protein_names_refseq": "aftiphilin isoform c; aftiphilin protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:54812)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "11237011;14665628;15302935;15758025;16964243;18815278;19007248;19413330;19651622;19690332;20068231;23186163;23301498;23481700;24275569;24366607;24714562;25576301;25880248;26728094;26811146;26992070;27920218;28228285;28832583;28834231;28904123;29242379;29351928;29508533;29557506;30315122;30779550;31844290;32157095;32488085;32502341;32938616;32983136;33090728;33298915;33691108;33717175;33912179;33968037;33981976;34087483;34561969;34932366;35051231;35318648;35580925;36241641", "class_list": "", "function": "Component of clathrin-coated vesicles (PubMed:15758025). Component of the aftiphilin/p200/gamma-synergin complex, which plays roles in AP1G1/AP-1-mediated protein trafficking including the trafficking of transferrin from early to recycling endosomes, and the membrane trafficking of furin and the lysosomal enzyme cathepsin D between the trans-Golgi network (TGN) and endosomes (PubMed:15758025)., [UniProtKB, PubMed]; Data show that by recruiting aftiphilin/gamma-synergin in addition to clathrin, AP-1 coordinates formation of Weibel-Palade bodies with their acquisition of a regulated secretory phenotype., [RefSeq, PubMed]; Expression profiles and prognostic significance of AFTPH in different tumors., [RefSeq, PubMed]; The aftiphilin/p200/gamma-synergin complex facilitates AP-1 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": 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": 1, "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": "D6W5E9;Q6ZM66;Q86VW3;Q8TCF3;Q9H7E3;Q9HAB9;Q9NXS4", "ec_number_list": [], "go_molecular_function": "GO:0030276 clathrin binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0032588 trans-Golgi network membrane;GO:0048471 perinuclear region of cytoplasm;GO:0030121 AP-1 adaptor complex", "go_biological_process": "GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q6ULP2-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UL18-1", "uniprot_id": [ { "id": "AGO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UL18", "type": "external" } ], "mass": 97214.0, "length": 857, "protein_name": "Protein argonaute-1", "gene_name": "AGO1", "organism": "Human", "refseq_name": "protein argonaute-1 isoform 1x", "refseq_ac": [ { "id": "NP_001304051", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304051", "type": "external" } ], "gene_names_uniprotkb": "AGO1; EIF2C1", "gene_names_refseq": "AGO1; EIF2C1; EIF2C; GERP95; NEDLBAS; Q99; hAgo1", "protein_names_uniprotkb": "Protein argonaute-1; Argonaute RISC catalytic component 1; Argonaute1; Eukaryotic translation initiation factor 2C 1; Putative RNA-binding protein Q99; eIF-2C 1; eIF2C 1; hAgo1", "protein_names_refseq": "Golgi Endoplasmic Reticulum protein 95 kDa; argonaute 1, RISC catalytic component; argonaute RISC catalytic component 1; argonaute1; eIF-2C 1; eIF2C 1; eukaryotic translation initiation factor 2C, 1; protein argonaute-1 isoform 1x; protein argonaute-1; putative RNA-binding protein Q99", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); pyruvate decarboxylase deficiency (Disease Ontology:DOID:3649); pyruvate carboxylase deficiency disease (Disease Ontology:DOID:3651); neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (MONDO:MONDO:0859531)", "pathway": " (hsa:26523); (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-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-9725371); (R-HSA-9759811); (R-HSA-9764562); (R-HSA-9768778); (R-HSA-9824594); (R-HSA-9839394); (R-HSA-9909620)", "pathway_count": 29, "publication_count": 676, "publication_id_list": 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"class_list": "", "function": "Association of Polymorphic Variants in Argonaute Genes with Depression Risk in a Polish Population. Publication Status: Online-Only, [RefSeq, PubMed]; LINC01116 modulates EMT process via binding with AGO1 mRNA in oesophageal squamous cell carcinoma., [RefSeq, PubMed]; Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) or short interfering RNAs (siRNAs), and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs. Also required for transcriptional gene silencing (TGS) of promoter regions which are complementary to bound short antigene RNAs (agRNAs)., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the argonaute family of proteins, which associate with small RNAs and have important roles in RNA interference (RNAi) and RNA silencing. This protein binds to microRNAs (miRNAs) or small interfering RNAs (siRNAs) and represses translation of mRNAs that are complementary to them. It is also involved in transcriptional gene silencing (TGS) of promoter regions that are complementary to bound short antigene RNAs (agRNAs), as well as in the degradation of miRNA-bound mRNA targets. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target, and that its mRNA could give rise to an additional C-terminally extended isoform by use of an alternative in-frame translation termination codon. [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": 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": 4, "reported_glycation": 0, "reported_snv": 11, "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": "Q5TA57;Q6P4S0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003725 double-stranded RNA binding;GO:0003727 single-stranded RNA binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0035198 miRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000932 P-body", "go_biological_process": "GO:0070922 RISC complex assembly;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:1901224 positive regulation of non-canonical NF-kappaB signal transduction;GO:0016525 negative regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 68.1, "record_id": "Q9UL18-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z713-1", "uniprot_id": [ { "id": "ANR37_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z713", "type": "external" } ], "mass": 16872.0, "length": 158, "protein_name": "Ankyrin repeat domain-containing protein 37", "gene_name": "ANKRD37", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 37", "refseq_ac": [ { "id": "NP_859077", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_859077", "type": "external" } ], "gene_names_uniprotkb": "ANKRD37; LPR2BP", "gene_names_refseq": "ANKRD37; Lrp2bp", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 37; Low-density lipoprotein receptor-related protein 2-binding protein; hLrp2bp", "protein_names_refseq": "ankyrin repeat domain-containing protein 37; low density lipoprotein receptor-related protein binding protein; low-density lipoprotein receptor-related protein 2-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:353322)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;15809689;19491311;28832583;29242379;30429286;31844290;33936100;36195640", "class_list": "", "function": "A causal association of ANKRD37 with human hippocampal volume., [RefSeq, PubMed]; ANKRD37 is a direct HIF-1 target that is highly induced in hypoxia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q7Z713-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKV5-1", "uniprot_id": [ { "id": "AMFR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKV5", "type": "external" } ], "mass": 72996.0, "length": 643, "protein_name": "E3 ubiquitin-protein ligase AMFR", "gene_name": "AMFR", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase AMFR isoform c", "refseq_ac": [ { "id": "NP_001135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135", "type": "external" } ], "gene_names_uniprotkb": "AMFR; RNF45", "gene_names_refseq": "AMFR; GP78; RNF45; SPG89", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase AMFR; 2.3.2.36; AMF receptor; Autocrine motility factor receptor; RING finger protein 45; gp78", "protein_names_refseq": "E3 ubiquitin-protein ligase AMFR isoform c; E3 ubiquitin-protein ligase AMFR; RING finger protein 45; RING-type E3 ubiquitin transferase AMFR", "tax_id": 9606, "disease": "hereditary spastic paraplegia 89 (Disease Ontology:DOID:0070458); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:267); (R-HSA-532668); (R-HSA-901032)", "pathway_count": 3, "publication_count": 127, "publication_id_list": "10409699;10456327;10694380;10788335;10929008;11237011;11724934;11902125;12114544;12145188;12670940;12913004;15215856;15358861;15362974;15713668;16055502;16168377;16186510;16431915;1649192;16959974;17043353;18003979;18264092;18417469;18426978;18524852;18578522;18669648;19084021;19103148;21636303;21914798;22143767;22645359;22728137;23186163;23223569;23232094;23481700;24029068;24275569;24366607;24424410;24715725;25092655;25418920;25576301;25645385;25892735;26024233;26154972;26611529;26992070;27397612;27600516;27846572;27920218;28063628;28218747;28228285;28604676;28832583;28834231;28904123;29184177;29242379;29275994;29393594;29437277;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30524438;30833945;31073040;31154438;31217245;31530632;31844290;31848261;31953408;31998317;32157095;32357974;32387766;32488085;32502341;32559118;32897882;32938616;32983136;33091337;33123756;33141586;33298915;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34932366;35051231;35121659;35333296;35561310;35580925;36010968;36241641;36284347;36576071;36593296;37119330;39534244;7626106", "class_list": "", "function": "AMFR drives allergic asthma development by promoting alveolar macrophage-derived GM-CSF production., [RefSeq, PubMed]; AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that mediates the polyubiquitination of lysine and cysteine residues on target proteins, such as CD3D, CYP3A4, CFTR, INSIG1, SOAT2/ACAT2 and APOB for proteasomal degradation (PubMed:10456327, PubMed:11724934, PubMed:12670940, PubMed:19103148, PubMed:24424410, PubMed:28604676). Component of a VCP/p97-AMFR/gp78 complex that participates in the final step of endoplasmic reticulum-associated degradation (ERAD) (PubMed:10456327, PubMed:11724934, PubMed:19103148, PubMed:24424410). The VCP/p97-AMFR/gp78 complex is involved in the sterol-accelerated ERAD degradation of HMGCR through binding to the HMGCR-INSIG1 complex at the ER membrane (PubMed:16168377, PubMed:22143767). In addition, interaction of AMFR with AUP1 facilitates interaction of AMFR with ubiquitin-conjugating enzyme UBE2G2 and ubiquitin ligase RNF139, leading to sterol-induced HMGCR ubiquitination (PubMed:23223569). The ubiquitinated HMGCR is then released from the ER into the cytosol for subsequent destruction (PubMed:16168377, PubMed:22143767, PubMed:23223569). In addition to ubiquitination on lysine residues, catalyzes ubiquitination on cysteine residues: together with INSIG1, mediates polyubiquitination of SOAT2/ACAT2 at 'Cys-277', leading to its degradation when the lipid levels are low (PubMed:28604676). Catalyzes ubiquitination and subsequent degradation of INSIG1 when cells are depleted of sterols (PubMed:17043353). Mediates polyubiquitination of INSIG2 at 'Cys-215' in some tissues, leading to its degradation (PubMed:31953408). Also regulates ERAD through the ubiquitination of UBL4A a component of the BAG6/BAT3 complex (PubMed:21636303). Also acts as a scaffold protein to assemble a complex that couples ubiquitination, retranslocation and deglycosylation (PubMed:21636303). Mediates tumor invasion and metastasis as a receptor for the GPI/autocrine motility factor (PubMed:10456327). In association with LMBR1L and UBAC2, negatively regulates the canonical Wnt signaling pathway in the lymphocytes by promoting the ubiquitin-mediated degradation of CTNNB1 and Wnt receptors FZD6 and LRP6 (PubMed:31073040). Regulates NF-kappa-B and MAPK signaling pathways by mediating 'Lys-27'-linked polyubiquitination of TAB3 and promoting subsequent TAK1/MAP3K7 activation (PubMed:36593296). Required for proper lipid homeostasis (PubMed:37119330)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Expression of autocrine motility factor receptor (AMFR) in human breast and lung invasive micropapillary carcinomas., [RefSeq, PubMed]; Hippocampal expression of NLK and its receptor gp78 is associated with maze learning in rats., [RefSeq, PubMed]; IASPP suppresses Gp78-mediated TMCO1 degradation to maintain Ca(2+) homeostasis and control tumor growth and drug resistance., [RefSeq, PubMed]; RETREG1/FAM134B mediated autophagosomal degradation of AMFR/GP78 and OPA1 -a dual organellar turnover mechanism., [RefSeq, PubMed]; This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "reported_glycation": 0, "reported_snv": 11, "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": "P26442;Q8IZ70", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.5.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.52", "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:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0051087 protein-folding chaperone binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane;GO:0030425 dendrite;GO:0030426 growth cone", "go_biological_process": "GO:0043335 protein unfolding;GO:0007165 signal transduction;GO:0007611 learning or memory;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "Q9UKV5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43652-1", "uniprot_id": [ { "id": "AFAM_HUMAN", "url": "https://www.uniprot.org/uniprot/P43652", "type": "external" } ], "mass": 69069.0, "length": 599, "protein_name": "Afamin", "gene_name": "AFM", "organism": "Human", "refseq_name": "afamin precursor", "refseq_ac": [ { "id": "NP_001124", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124", "type": "external" } ], "gene_names_uniprotkb": "AFM; ALB2; ALBA", "gene_names_refseq": "AFM; ALB2; ALBA; ALF", "protein_names_uniprotkb": "Afamin; Alpha-Alb; Alpha-albumin", "protein_names_refseq": "afamin precursor; alpha-Alb; alpha-albumin; vitamin E binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:173)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "37268159;12463752;14760718;15952736;16335952;16740002;19046407;19139490;19159218;19838169;23090970;23345538;24841998;26902720;27726376;28188748;29153507;29391424;29557506;29632711;29671580;29741879;30237853;32125861;32350084;34603196;34725484;35053264;35251023;36010968;36793712;37074911;37518071;38189115;7517938;7875606;8755513", "class_list": "", "function": "AFM negatively regulates the infiltration of monocytes to mediate sepsis-associated acute kidney injury. Publication Status: Online-Only, [RefSeq, PubMed]; Afamin Levels and Their Correlation with Oxidative and Lipid Parameters in Non-diabetic, Obese Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Comparison of Afamin Values in Umbilical Cord Blood After Delivery in Pregnancies With and Without Gestational Diabetes Mellitus., [RefSeq, PubMed]; Functions as a carrier for hydrophobic molecules in body fluids (Probable). Essential for the solubility and activity of lipidated Wnt family members, including WNT1, WNT2B, WNT3, WNT3A, WNT5A, WNT7A, WNT7B, WNT8, WNT9A, WNT9B, WNT10A and WNT10B (PubMed:26902720). Binds vitamin E (PubMed:12463752, PubMed:15952736). May transport vitamin E in body fluids under conditions where the lipoprotein system is not sufficient (PubMed:15952736). May be involved in the transport of vitamin E across the blood-brain barrier (PubMed:19046407)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Investigation of serum afamin concentration in pregnant women diagnosed with late fetal growth restriction or small for gestational age fetus., [RefSeq, PubMed]; Serum Afamin a Novel Marker of Increased Hepatic Lipid Content. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "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": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 68, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K3E1;Q32MR3;Q4W5C5", "ec_number_list": [], "go_molecular_function": "GO:0008431 vitamin E binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0071693 protein transport within extracellular region;GO:0031667 response to nutrient levels;GO:0050821 protein stabilization;GO:0051180 vitamin transport", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "P43652-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52594-1", "uniprot_id": [ { "id": "AGFG1_HUMAN", "url": "https://www.uniprot.org/uniprot/P52594", "type": "external" } ], "mass": 58260.0, "length": 562, "protein_name": "Arf-GAP domain and FG repeat-containing protein 1", "gene_name": "AGFG1", "organism": "Human", "refseq_name": "arf-GAP domain and FG repeat-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001128659", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128659", "type": "external" } ], "gene_names_uniprotkb": "AGFG1; HRB; RAB; RIP", "gene_names_refseq": "AGFG1; HRB; RAB; RIP", "protein_names_uniprotkb": "Arf-GAP domain and FG repeat-containing protein 1; HIV-1 Rev-binding protein; Nucleoporin-like protein RIP; Rev-interacting protein; Rev/Rex activation domain-binding protein", "protein_names_refseq": "HIV-1 Rev-binding protein; Rab, Rev/Rex activation domain-binding protein; arf-GAP domain and FG repeat-containing protein 1 isoform 1; arf-GAP domain and FG repeat-containing protein 1; arf-GAP domain and FG repeats-containing protein 1; hRIP, Rev interacting protein; nucleoporin-like protein RIP; rev-interacting protein; rev/Rex activation domain-binding protein", "tax_id": 9606, "disease": "oligoasthenoteratozoospermia (Disease Ontology:DOID:0070311)", "pathway": " (hsa:3267); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 3, "publication_count": 305, "publication_id_list": "10.1101/2023.09.13.557529;10097102;10436022;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10983987;11071885;11076969;11082044;11231140;11237011;11239472;11247302;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12086608;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12717448;12847086;12944396;12952949;12958364;1317852;14555962;14581451;14617351;14622578;14622579;14662753;14701878;14726597;15134832;15252009;15260957;15318165;15339664;1535555;15473838;15502812;15502813;15649145;15671180;15703209;15728179;15749819;15802264;15895077;15916959;16103228;16159959;16215232;16326391;16410077;16459302;16460808;16516836;16707488;16723738;16798879;16880396;16903783;17016520;17018281;17035995;17081983;17158794;17267500;17322306;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17681954;17713526;17762867;17765681;17978091;18032517;18088087;18093523;18166656;18199683;18388313;1847920;18669648;18775314;18790740;18819912;18981233;19092055;19140243;19287005;19296720;19413330;19458185;19536138;19575674;19603039;19651622;19664994;19664995;1968060;19690332;19696796;19696798;19713939;19732400;19776351;19809571;19853559;20033059;20059951;20068231;20166139;20211604;20231386;20305658;20351096;20428113;20448150;20826345;20946875;21102408;2115402;21187331;21278753;21316588;21406692;21445324;21482805;21499258;21613550;21740066;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22484487;22505844;2257624;22815487;22863004;22942912;23186163;23297414;23301498;23481700;23536704;23823722;23861397;23891661;24130457;24186068;24275569;24384571;24581490;24680432;24746795;24789820;24966051;25107275;25303366;25341920;25505266;25576301;26042225;26154972;26403691;26829388;26992070;27090790;28218747;28228285;28514659;28604694;28657654;28686627;28832583;28904123;2890644;29237092;29242379;29351928;29393594;29485866;29508533;29557506;29632711;30059200;30315122;30379171;30410026;30429286;30620550;31154438;31217245;31373491;31492838;31530632;31844290;31848261;31998317;32119511;32141537;32157095;32350084;32357974;32387766;32574038;32938616;32938750;32983136;33214551;33298915;33592498;33936100;33968037;34019948;34171305;3417785;34357683;34509645;34725712;34846842;35051231;35132862;35138101;35154160;35251023;35254053;35289036;35318648;35513511;35580925;35705054;36206112;36284347;37340703;37541260;37691430;37938771;38665916;38752261;38838015;39302247;39531497;39534244;40307207;40596516;6146630;7569928;7634337;7637788;7822302;7877694;8524399;8552632;8553074;8837779;9092476;9100026;9169477;9303539;9427626;9428629;9635431;9723620;9736607;9812899", "class_list": "", "function": "CircAGFG1 Promotes Ovarian Cancer Progression Through the miR-409-3 p/ZEB1 Axis., [RefSeq, PubMed]; CircAGFG1 absence decreases PKM2 expression to enhance oxaliplatin sensitivity in colorectal cancer in a miR-7-5p-dependent manner., [RefSeq, PubMed]; CircAGFG1 aggravates the progression of cervical cancer by downregulating p53., [RefSeq, PubMed]; Circular RNA circ-AGFG1 contributes to esophageal squamous cell carcinoma progression and glutamine catabolism by targeting microRNA-497-5p/solute carrier family 1 member 5 axis., [RefSeq, PubMed]; Required for vesicle docking or fusion during acrosome biogenesis (By similarity). May play a role in RNA trafficking or localization. In case of infection by HIV-1, acts as a cofactor for viral Rev and promotes movement of Rev-responsive element-containing RNAs from the nuclear periphery to the cytoplasm. This step is essential for HIV-1 replication., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. The encoded protein binds the activation domain of the human immunodeficiency virus Rev protein when Rev is assembled onto its RNA target, and is required for the nuclear export of Rev-directed RNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 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": 1, "reported_o_glycosites_with_glycan": 39, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 39, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 39, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 60, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 41, "binding_glycan_count": 0, "secondary_ac_list": "B3KUL1;E9PHX7;Q15277;Q4VAS0;Q4VAS1;Q4VAS3;Q53QT8;Q53R11", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0005096 GTPase activator activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005643 nuclear pore;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0043025 neuronal cell body;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0006406 mRNA export from nucleus;GO:0001675 acrosome assembly;GO:0007289 spermatid nucleus differentiation;GO:0045109 intermediate filament organization;GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 34.9, "record_id": "P52594-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55008-1", "uniprot_id": [ { "id": "AIF1_HUMAN", "url": "https://www.uniprot.org/uniprot/P55008", "type": "external" } ], "mass": 16703.0, "length": 147, "protein_name": "Allograft inflammatory factor 1", "gene_name": "AIF1", "organism": "Human", "refseq_name": "allograft inflammatory factor 1 isoform 1", "refseq_ac": [ { "id": "NP_001305899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305899", "type": "external" } ], "gene_names_uniprotkb": "AIF1; G1; IBA1", "gene_names_refseq": "AIF-1; AIF1; IBA1; IRT-1; IRT1", "protein_names_uniprotkb": "Allograft inflammatory factor 1; AIF-1; Ionized calcium-binding adapter molecule 1; Protein G1", "protein_names_refseq": "allograft inflammatory factor 1 isoform 1; interferon gamma responsive transcript; ionized calcium-binding adapter molecule 1; protein G1", "tax_id": 9606, "disease": "meningoencephalitis (Disease Ontology:DOID:10554); Alzheimer's disease (Disease Ontology:DOID:10652); interstitial cystitis (Disease Ontology:DOID:13949); alcohol use disorder (Disease Ontology:DOID:1574); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); cerebral palsy (Disease Ontology:DOID:1969); motor neuron disease (Disease Ontology:DOID:231); brain ischemia (Disease Ontology:DOID:2316); glomerulonephritis (Disease Ontology:DOID:2921); brain infarction (Disease Ontology:DOID:3454); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:199)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "10202016;11237011;14656967;15117732;16049345;17011575;18699778;19608861;23186163;24275569;24715725;26992070;27452731;27846572;27920218;28228285;28855257;28904123;29242379;29493099;29557506;29786170;29789417;30315122;30410026;31154438;31217245;31530632;31844290;32157095;32387766;32502341;32983136;33043033;34509645;35051231;35580925;36284347;37014322;37938771;37950809;38521928;7590964;8081366;8629302;8912632;9367684", "class_list": "", "function": "Actin-binding protein that enhances membrane ruffling and RAC activation. Enhances the actin-bundling activity of LCP1. Binds calcium. Plays a role in RAC signaling and in phagocytosis. May play a role in macrophage activation and function. Promotes the proliferation of vascular smooth muscle cells and of T-lymphocytes. Enhances lymphocyte migration. Plays a role in vascular inflammation., [UniProtKB, PubMed, PubMed, PubMed]; Allograft inflammatory factor 1 is a potential diagnostic, immunological, and prognostic biomarker in pan-cancer., [RefSeq, PubMed]; Identification of allograft inflammatory factor-1 suppressing the progression and indicating good prognosis of osteosarcoma. Publication Status: Online-Only, [RefSeq, PubMed]; Proteome-wide Mendelian randomization highlights AIF1 and HLA-DQA2 as targets for primary sclerosing cholangitis., [RefSeq, PubMed]; This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 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": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 12, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K406;O43904;Q9UIV4;Q9UKS9", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0001891 phagocytic cup;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005884 actin filament", "go_biological_process": "GO:0030046 parallel actin filament bundle assembly;GO:0071677 positive regulation of mononuclear cell migration;GO:0001774 microglial cell activation;GO:0006911 phagocytosis, engulfment;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "P55008-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55196-4", "uniprot_id": [ { "id": "AFAD_HUMAN", "url": "https://www.uniprot.org/uniprot/P55196", "type": "external" } ], "mass": 206804.0, "length": 1824, "protein_name": "Afadin", "gene_name": "AFDN", "organism": "Human", "refseq_name": "afadin isoform 2", "refseq_ac": [ { "id": "NP_001035089", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035089", "type": "external" } ], "gene_names_uniprotkb": "AFDN; AF6; MLLT4", "gene_names_refseq": "AF6; AFDN; MLL-AF6; MLLT4; l-afadin", "protein_names_uniprotkb": "Afadin; ALL1-fused gene from chromosome 6 protein; Afadin adherens junction formation factor; Protein AF-6", "protein_names_refseq": "ALL1-fused gene from chromosome 6 protein; afadin isoform 2; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); myeloid/lymphoid or mixed-lineage leukemia; protein AF-6; translocated to, 4", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330); breast carcinoma (Disease Ontology:DOID:3459)", "pathway": " (hsa:4301)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "11024295;12456712;15144186;15684424;16671149;17693683;18220336;18669648;19690332;20068231;23186163;23301498;24275569;24714562;24715725;25576301;25645385;25880248;26154972;27600516;27862975;27920218;28228285;28510447;28514659;28649982;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29786170;30192525;30315122;30379171;30410026;30463011;31154438;31844290;31848261;32119511;32157095;32357974;32502341;32938616;33141586;33298915;33592498;33717175;33912179;33968037;33981976;34171305;34185709;34725712;35051231;35154160;35254053;35580925;36010968;36284347;36384317;37938771;8242616;9679199", "class_list": "", "function": "Belongs to an adhesion system, probably together with the E-cadherin-catenin system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs) (By similarity). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton (PubMed:11024295). May play a key role in the organization of epithelial structures of the embryonic ectoderm (By similarity). Essential for the organization of adherens junctions (PubMed:30463011)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate., [RefSeq, PubMed]; This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 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": 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": 32, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "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": "O75087;O75088;O75089;Q59FP0;Q5TIG6;Q5TIG7;Q9NSN7;Q9NU92", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding;GO:0045296 cadherin binding;GO:0050839 cell adhesion molecule binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005912 adherens junction", "go_biological_process": "GO:0022409 positive regulation of cell-cell adhesion;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "P55196-4", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55345-1", "uniprot_id": [ { "id": "ANM2_HUMAN", "url": "https://www.uniprot.org/uniprot/P55345", "type": "external" } ], "mass": 49042.0, "length": 433, "protein_name": "Protein arginine N-methyltransferase 2", "gene_name": "PRMT2", "organism": "Human", "refseq_name": "protein arginine N-methyltransferase 2 isoform 2", "refseq_ac": [ { "id": "NP_001229793", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229793", "type": "external" } ], "gene_names_uniprotkb": "PRMT2; HMT1; HRMT1L1", "gene_names_refseq": "HRMT1L1; PRMT2", "protein_names_uniprotkb": "Protein arginine N-methyltransferase 2; 2.1.1.319; Histone-arginine N-methyltransferase PRMT2", "protein_names_refseq": "HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1; HMT1 hnRNP methyltransferase-like 1; PRMT2 alpha; PRMT2 beta; PRMT2 gamma; histone-arginine N-methyltransferase PRMT2; protein arginine N-methyltransferase 2 isoform 2; protein arginine N-methyltransferase 2", "tax_id": 9606, "disease": "asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:3275)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;11513728;12039952;16648481;17322306;17587566;17925405;19405910;21820040;22093364;24129315;25505266;25576301;27846572;27920218;28228285;28832583;29242379;29493099;29508533;29557506;29769354;29786170;31844290;31848261;32157095;32387766;32897882;32938616;33141586;33298915;33592498;33912179;33968037;34211107;35051231;35494241;36284347;37217939;37863263;37949879;38155464;38892217;38902349;9196002;9545638", "class_list": "", "function": "Advances in Research on Protein Arginine Methyltransferase 2: Functions and Diseases. Review article, [RefSeq, PubMed]; Arginine methyltransferase that methylates the guanidino nitrogens of arginyl residues in proteins such as STAT3, FBL, histone H4 (PubMed:19405910). Acts as a coactivator (with NCOA2) of the androgen receptor (AR)-mediated transactivation (PubMed:17587566). Acts as a coactivator (with estrogen) of estrogen receptor (ER)-mediated transactivation (PubMed:12039952). Enhances PGR, PPARG, RARA-mediated transactivation (PubMed:12039952). May inhibit NF-kappa-B transcription and promote apoptosis (PubMed:16648481). Represses E2F1 transcriptional activity (in a RB1-dependent manner) (By similarity). May be involved in growth regulation (By similarity). Involved in C15ORF39-mediated inhibition of the microglial inflammatory responses through suppression of NF-kappa-B signaling, thereby reducing the production of pro-inflammatory cytokines (PubMed:38892217)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Human C15orf39 Inhibits Inflammatory Response via PRMT2 in Human Microglial HMC3 Cell Line. Publication Status: Online-Only, [RefSeq, PubMed]; PRMT2 is a novel ERalpha coactivator., [RefSeq, PubMed]; PRMT2 promotes HIV-1 latency by preventing nucleolar exit and phase separation of Tat into the Super Elongation Complex. Publication Status: Online-Only, [RefSeq, PubMed]; Protein arginine N-methyltransferase 2 plays a noncatalytic role in the histone methylation activity of PRMT1., [RefSeq, PubMed]; Protein arginine methyltransferase 2 controls inflammatory signaling in acute myeloid leukemia. 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": 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": "B7U630;B7U631;B7U632;P78350;Q498Y5;Q5U7D4;Q6FHF0;Q99781;Q9BW15;Q9UMC2", "ec_number_list": [ { "id": "2.1.1.319", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.319", "type": "external" } ], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0042803 protein homodimerization activity;GO:0044877 protein-containing complex binding;GO:0016274 protein-arginine N-methyltransferase activity;GO:0035242 protein-arginine omega-N asymmetric methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006954 inflammatory response;GO:0006355 regulation of DNA-templated transcription;GO:0050728 negative regulation of inflammatory response;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "P55345-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P60006-1", "uniprot_id": [ { "id": "APC15_HUMAN", "url": "https://www.uniprot.org/uniprot/P60006", "type": "external" } ], "mass": 14281.0, "length": 121, "protein_name": "Anaphase-promoting complex subunit 15", "gene_name": "ANAPC15", "organism": "Human", "refseq_name": "anaphase-promoting complex subunit 15 isoform a", "refseq_ac": [ { "id": "NP_001265414", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265414", "type": "external" } ], "gene_names_uniprotkb": "ANAPC15; C11orf51; HSPC020", "gene_names_refseq": "ANAPC15; APC15; C11orf51; HSPC020", "protein_names_uniprotkb": "Anaphase-promoting complex subunit 15; APC15", "protein_names_refseq": "anaphase-promoting complex subunit 15 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:25906); (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)", "pathway_count": 18, "publication_count": 106, "publication_id_list": "10201372;10318916;10339564;10411507;10432220;10548110;10679238;10733526;10793135;10884341;10995389;11046155;11081627;11114305;11125146;11230166;11237011;11248027;11285280;11340163;11371342;11509732;11535616;11562349;11598127;11742988;11859075;11988738;12006501;12070128;12194817;12446569;12832467;14657031;14672932;14679213;14743218;15014503;15029244;15469821;15678131;15737063;15774718;16413484;16626623;16648845;16824194;17187060;17234884;17485488;18267069;18411265;18485873;18555777;18555778;19805069;19896182;20028861;20351173;20452968;21325273;21670496;2183031;21926987;21979375;22084091;22178396;22634325;22885700;23007861;23603117;23846687;23851460;2405250;24706756;25043029;25231993;25505266;26083744;26222030;27120157;27249176;27509861;27601667;29033132;29242379;29393594;30779550;31154438;31217245;31844290;32161166;33936100;33981976;35580925;36284347;8234276;8384717;8413215;8413306;8617720;8688489;8884985;8939459;9635433;9892021", "class_list": "", "function": "APC15 is required for anaphase-promoting complex/cyclosome-bound mitotic checkpoint complex-dependent CDC20 autoubiquitylation and degradation and for timely anaphase initiation., [RefSeq, PubMed]; Anaphase promoting complex subunit 15(APC15) mediates the constant turnover of CDC20 and mitotic checkpoint protein complexes, allowing the spindle checkpoint assembly to respond to the attachment state of kinetochores. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through the cell cycle (PubMed:21926987, 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:29033132). 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:21926987, PubMed:27509861). Also required for degradation of CDC20 (PubMed:21926987)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Cryo-EM structure of an APC/C-Cdh1 complex with Apc1(WD40) deleted showed that the mutant APC/C is locked into an inactive conformation in which the UbcH10-binding site of the catalytic module is inaccessible. Additionally, an EM density for Apc15 is not visible, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "G3V1Q3;Q9CXK2;Q9Y269", "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": 10.7, "record_id": "P60006-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01718-1", "uniprot_id": [ { "id": "ACTHR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01718", "type": "external" } ], "mass": 33927.0, "length": 297, "protein_name": "Adrenocorticotropic hormone receptor", "gene_name": "MC2R", "organism": "Human", "refseq_name": "adrenocorticotropic hormone receptor", "refseq_ac": [ { "id": "NP_000520", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000520", "type": "external" } ], "gene_names_uniprotkb": "MC2R; ACTHR", "gene_names_refseq": "ACTHR; MC2R", "protein_names_uniprotkb": "Adrenocorticotropic hormone receptor; ACTH receptor; ACTH-R; Adrenocorticotropin receptor; MC2-R; Melanocortin receptor 2", "protein_names_refseq": "ACTH receptor; MC2 receptor; adrenocorticotropic hormone receptor; adrenocorticotropin receptor; corticotropin receptor; melanocortin 2 receptor (adrenocorticotropic hormone)", "tax_id": 9606, "disease": "West syndrome (Disease Ontology:DOID:0050562); familial glucocorticoid deficiency (Disease Ontology:DOID:0080620); glucocorticoid deficiency 1 (Disease Ontology:DOID:0080621); toxic shock syndrome (Disease Ontology:DOID:14115)", "pathway": " (hsa:4158); (R-HSA-375276); (R-HSA-418555); (R-HSA-5579031)", "pathway_count": 4, "publication_count": 171, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;10971458;11007482;11237011;11322507;11385580;11457843;11562423;11683476;11773063;12036966;12058044;12106601;12165561;12180353;12213892;12427552;12540846;12719537;1280419;12860470;12956774;1314587;1317848;1325670;1337145;1346068;13549488;14463577;14550283;14557433;14573733;14671004;15139756;1517224;15539556;15654338;1567413;15765929;15769620;15947423;15951850;16313925;1655761;16687412;16923326;1710450;1710578;17168849;1719979;1722333;17596328;18044684;18127230;1847994;18577758;19105585;19329486;19372376;19535343;19876791;19929708;20022931;20108423;20371771;20381629;21036126;2163110;21862608;23446738;23690594;2417744;24687066;24906252;2491850;2553411;2553705;26417854;2649896;27496565;2871555;29393594;29443750;29602314;29769354;30833991;3127824;31279028;31399091;31983287;3202875;32226383;32350084;32497535;32540603;32618402;32715661;32938616;33049737;3366244;35251023;3525564;36291631;36588120;36909322;37994136;3856870;6085243;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;8035319;8062389;8063797;8094489;8185599;8201839;8227361;8248172;8294032;8305507;8340388;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8514797;8615752;8636348;8666380;8672451;8702752;873923;8823230;9171878;9263355;9417641;9521323;9530155;9593744;9607765;9620771;9651336;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor for corticotropin/ACTH, primarily expressed in adrenal cortex where it plays a key role in the regulation of adrenocortical function (PubMed:1325670, PubMed:17596328, PubMed:36588120). Upon activation, couples to G(s) protein, stimulating adenylate cyclase and activating the cAMP-dependent signaling pathway, the MAPK cascade as well as the PKA pathway, leading to steroidogenic factor 1/NR5A1-mediated transcriptional activation (PubMed:1325670). Activation by ACTH facilitates the release of adrenal glucocorticoids, including cortisol and corticosterone (PubMed:12213892, PubMed:8636348). In addition, MC2R is required for fetal and neonatal adrenal gland development (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB]; Human Melanocortin-2 Receptor: Identifying a Role for Residues in the TM4, EC2, and TM5 Domains in Activation and Trafficking as a Result of Co-Expression with the Accessory Protein, Mrap1 in Chinese Hamster Ovary Cells. 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 ~37%., [RefSeq, PubMed]; MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. Alternate transcript variants have been found for this gene. [provided by RefSeq, May 2014]., [RefSeq]; Structural basis of signaling regulation of the human melanocortin-2 receptor by MRAP1., [RefSeq, PubMed]; [Clinical characteristics and genetic analysis of two children with Familial glucocorticoid deficiency type 1 due to variants of MC2R gene]., [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": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 19, "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": "A8K016;Q3MI45;Q504X6", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0046872 metal ion binding;GO:0004977 melanocortin receptor activity;GO:0004978 corticotropin receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;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:0031948 positive regulation of glucocorticoid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 17.4, "record_id": "Q01718-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q09666-1", "uniprot_id": [ { "id": "AHNK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q09666", "type": "external" } ], "mass": 629101.0, "length": 5890, "protein_name": "Neuroblast differentiation-associated protein AHNAK", "gene_name": "AHNAK", "organism": "Human", "refseq_name": "neuroblast differentiation-associated protein AHNAK isoform 1", "refseq_ac": [ { "id": "NP_001333374", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333374", "type": "external" } ], "gene_names_uniprotkb": "AHNAK; PM227", "gene_names_refseq": "AHNAK1; AHNAKRS; AHNAK; PM227", "protein_names_uniprotkb": "Neuroblast differentiation-associated protein AHNAK; Desmoyokin", "protein_names_refseq": "AHNAK-related; desmoyokin; neuroblast differentiation-associated protein AHNAK isoform 1; neuroblast differentiation-associated protein AHNAK", "tax_id": 9606, "disease": "autoimmune disease (Disease Ontology:DOID:417)", "pathway": " (hsa:79026)", "pathway_count": 1, "publication_count": 160, "publication_id_list": "10.1021/acs.analchem.6b02887;10.1101/2023.09.13.557529;11237011;15302935;1608957;16964243;17081983;17185750;17322306;17389395;17924679;18212344;18318008;18452278;18491316;18578522;18669648;18691976;18707149;18767875;18991276;19007248;19367720;19369195;19413330;19415658;19531498;19615748;19651622;19664994;19664995;19690332;19691289;19748539;20058876;20068230;20068231;20112406;20166139;21136679;21158410;21406692;21940993;22028470;22661428;23186163;23301498;23481700;23783831;24129315;24275569;24366607;24714562;24715725;25114211;25218447;25576301;25645385;25755297;26154972;26375851;26992070;27452731;27543614;27600516;27655845;27726376;27846572;27862975;27920218;28035807;28228285;28649982;28657654;28832583;28834231;28855257;29237092;29242379;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30059200;30315122;30379171;30410026;30429286;30444036;30484775;30620550;31217245;31373491;31492838;31844290;32119511;32157095;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33091337;33123756;33214551;33298915;33392160;33465208;33537174;33592498;33691108;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34405274;34509645;34561969;34725712;34846842;34932366;35051231;35083852;35132862;35254053;35289036;35318648;35513511;35580925;36010968;36215666;36241641;36284347;36713363;37217939;37340703;37938771;37962808;38051912;38253038;38665916;38838015;39302247;39531497;39534244;40136647;40307207;40596516;41350704", "class_list": "", "function": "AHNAK constitutes a novel mechanism in post-transcriptional control of gene expression., [RefSeq, PubMed]; Diagnostic and prognostic value of STAP1 and AHNAK methylation in peripheral blood immune cells for HBV-related hepatopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of AHNAK expression associated with the pathogenesis of chronic obstructive pulmonary disease by bioinformatic analysis., [RefSeq, PubMed]; May be required for neuronal cell differentiation., [UniProtKB]; Silencing AHNAK promotes nasopharyngeal carcinoma progression by upregulating the ANXA2 protein., [RefSeq, PubMed]; The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 124, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 124, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 124, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 189, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 293, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 125, "binding_glycan_count": 0, "secondary_ac_list": "A1A586", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0045296 cadherin binding;GO:0044548 S100 protein binding;GO:0097493 structural molecule activity conferring elasticity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion", "go_biological_process": "GO:0043484 regulation of RNA splicing;GO:1905686 positive regulation of plasma membrane repair", "synthesized_glycan_count": 0, "hit_score": 29.0, "record_id": "Q09666-1", "record_type": "protein", "filter_code": "0000000.1000111.000100.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15041-1", "uniprot_id": [ { "id": "AR6P1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15041", "type": "external" } ], "mass": 23363.0, "length": 203, "protein_name": "ADP-ribosylation factor-like protein 6-interacting protein 1", "gene_name": "ARL6IP1", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 6-interacting protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001300787", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001300787", "type": "external" } ], "gene_names_uniprotkb": "ARL6IP1; ARL6IP; ARMER; KIAA0069", "gene_names_refseq": "AIP1; ARL6IP1; ARL6IP; ARMER; SPG61", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 6-interacting protein 1; ARL-6-interacting protein 1; Aip-1; Apoptotic regulator in the membrane of the endoplasmic reticulum", "protein_names_refseq": "ADP ribosylation factor like GTPase 6 interacting protein 1; ADP-ribosylation factor GTPase 6 interacting protein 1; ADP-ribosylation factor-like 6 interacting protein 1; ADP-ribosylation factor-like protein 6-interacting protein 1 isoform 2; ADP-ribosylation factor-like protein 6-interacting protein 1; ARF like GTPase 6 interacting protein 1; ARL-6-interacting protein 1; aip-1; apoptotic regulator in the membrane of the endoplasmic reticulum", "tax_id": 9606, "disease": "hereditary spastic paraplegia 61 (Disease Ontology:DOID:0110812); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:23204)", "pathway_count": 1, "publication_count": 86, "publication_id_list": "10995579;11237011;12754298;22009320;24076029;24262037;24366607;24482476;24714562;24715725;25418920;25576301;25612671;25645385;25892735;26154972;26992070;27600516;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29314611;29331515;29393594;29437277;29493099;29557506;29632711;29769354;29786170;30237576;30315122;30410026;30524438;30779550;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34405274;34509645;34561969;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;39894887", "class_list": "", "function": "Novel endoplasmic reticulum integral membrane protein which protects cells by inhibiting caspase-9 activity and reveal a possible role for ARMER in cell survival, [RefSeq, PubMed]; Positively regulates SLC1A1/EAAC1-mediated glutamate transport by increasing its affinity for glutamate in a PKC activity-dependent manner. Promotes the catalytic efficiency of SLC1A1/EAAC1 probably by reducing its interaction with ARL6IP5, a negative regulator of SLC1A1/EAAC1-mediated glutamate transport (By similarity). Plays a role in the formation and stabilization of endoplasmic reticulum tubules (PubMed:24262037). Negatively regulates apoptosis, possibly by modulating the activity of caspase-9 (CASP9). Inhibits cleavage of CASP9-dependent substrates and downstream markers of apoptosis but not CASP9 itself (PubMed:12754298). May be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation (PubMed:10995579)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; This gene belongs to the ARL6ip family and encodes a transmembrane protein that is predominantly localized to intracytoplasmic membranes. It is highly expressed in early myeloid progenitor cells and thought to be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation. Mutations in this gene are associated with spastic paraplegia 61 (SPG61). Alternatively spliced transcript variants 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": 0, "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": "B7Z6S5;B7Z791;F5GXP4", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0005784 Sec61 translocon complex", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0002038 positive regulation of L-glutamate import across plasma membrane;GO:0006613 cotranslational protein targeting to membrane;GO:0071787 endoplasmic reticulum tubular network formation", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q15041-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15699-1", "uniprot_id": [ { "id": "ALX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15699", "type": "external" } ], "mass": 36961.0, "length": 326, "protein_name": "ALX homeobox protein 1", "gene_name": "ALX1", "organism": "Human", "refseq_name": "ALX homeobox protein 1", "refseq_ac": [ { "id": "NP_008913", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008913", "type": "external" } ], "gene_names_uniprotkb": "ALX1; CART1", "gene_names_refseq": "ALX1; CART1; FND3; HEL23", "protein_names_uniprotkb": "ALX homeobox protein 1; CART-1; Cartilage homeoprotein 1", "protein_names_refseq": "ALX homeobox protein 1; CART-1; cartilage paired-class homeoprotein 1; epididymis luminal protein 23", "tax_id": 9606, "disease": "frontonasal dysplasia 3 (Disease Ontology:DOID:0081047)", "pathway": " (hsa:8092)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "18691976;20068231;20451171;23186163;23288509;24029068;25576301;26992070;27600516;29936472;30315122;30429286;30773258;31844290;32157095;34104082;35051231;36010968;8756334;9753625", "class_list": "", "function": "ALX1 is highly expressed in human melanoma tissues and cell lines. Knockdown of ALX1 suppressed the proliferation and invasion of melanoma cells., [RefSeq, PubMed]; According to our analysis, three proteins, namely aristaless-like homeobox1 isoform X1 (ALX1), major histocompatibility complex polypeptide-related sequence A (MICA), and uncharacterized protein C14orf105 isoform X12 were found to be potential markers for Opisthorchis viverrini (OV)- infection, as they were predominantly found in all OV-infected groups, [RefSeq, PubMed]; Promoter Methylation-mediated Silencing of the MiR-192-5p Promotes Endometrial Cancer Progression by Targeting ALX1. Publication Status: Online-Only, [RefSeq, PubMed]; Sequence-specific DNA-binding transcription factor that binds palindromic sequences within promoters and may activate or repress the transcription of a subset of genes (PubMed:8756334, PubMed:9753625). Most probably regulates the expression of genes involved in the development of mesenchyme-derived craniofacial structures. Early on in development, it plays a role in forebrain mesenchyme survival (PubMed:20451171). May also induce epithelial to mesenchymal transition (EMT) through the expression of SNAI1 (PubMed:23288509)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q546C8;Q96FH4", "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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q15699-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q400G9-1", "uniprot_id": [ { "id": "AMZ1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q400G9", "type": "external" } ], "mass": 54924.0, "length": 498, "protein_name": "Archaemetzincin-1", "gene_name": "AMZ1", "organism": "Human", "refseq_name": "archaemetzincin-1 isoform 2", "refseq_ac": [ { "id": "NP_001271284", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271284", "type": "external" } ], "gene_names_uniprotkb": "AMZ1; KIAA1950", "gene_names_refseq": "AMZ1", "protein_names_uniprotkb": "Archaemetzincin-1; 3.4.-.-; Archeobacterial metalloproteinase-like protein 1", "protein_names_refseq": "archaemetzincin-1 isoform 2; archaemetzincin-1; archeobacterial metalloproteinase-like protein 1; metalloproteinase-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:155185)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "15972818", "class_list": "", "function": "Probable zinc metalloprotease., [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": 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": "B3KRS0;Q8TF51", "ec_number_list": [], "go_molecular_function": "GO:0008237 metallopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q400G9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JPF3-1", "uniprot_id": [ { "id": "AN36C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JPF3", "type": "external" } ], "mass": 199748.0, "length": 1778, "protein_name": "Ankyrin repeat domain-containing protein 36C", "gene_name": "ANKRD36C", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ANKRD36C", "gene_names_refseq": "", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 36C; Protein immuno-reactive with anti-PTH polyclonal antibodies", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 15, "publication_id_list": "11237011;21740066;23186163;24366607;26992070;29557506;30620550;32157095;32938616;33912179;34561969;35051231;35580925;37217939;8608414", "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": 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": 42, "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": "C9JZ08;Q15694;Q53S06;Q658V2", "ec_number_list": [], "go_molecular_function": "GO:0008200 ion channel inhibitor activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q5JPF3-1", "record_type": "protein", "filter_code": "0000000.1000100.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUS5-1", "uniprot_id": [ { "id": "AP5S1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUS5", "type": "external" } ], "mass": 22522.0, "length": 200, "protein_name": "AP-5 complex subunit sigma-1", "gene_name": "AP5S1", "organism": "Human", "refseq_name": "AP-5 complex subunit sigma-1", "refseq_ac": [ { "id": "NP_001191375", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191375", "type": "external" } ], "gene_names_uniprotkb": "AP5S1; C20orf29", "gene_names_refseq": "AP5S1; C20orf29", "protein_names_uniprotkb": "AP-5 complex subunit sigma-1; Adaptor-related protein complex 5 sigma subunit; Sigma5", "protein_names_refseq": "AP-5 complex subunit sigma-1; adapter-related protein complex 5 sigma subunit; adaptor related protein complex 5 sigma 1 subunit; adaptor-related protein complex 5 sigma subunit; protein C20orf29; sigma5", "tax_id": 9606, "disease": "", "pathway": " (hsa:55317)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;20613862;22022230;22869377;23481700;25505266;25576301;26992070;28832583;28834231;29242379;29393594;29493099;29557506;29632046;30779550;31154438;31844290;31848261;32157095;32161166;32357974;32983136;33298915;33537174;33968037;34932366;35580925;36010968", "class_list": "", "function": "As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862, it is required for efficient homologous recombination DNA double-strand break repair., [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": 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": "B3KSD0;D3DVY7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane;GO:0005770 late endosome", "go_biological_process": "GO:0015031 protein transport;GO:0007040 lysosome organization;GO:0016197 endosomal transport;GO:0016192 vesicle-mediated transport;GO:0000724 double-strand break repair via homologous recombination", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9NUS5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TZF3-2", "uniprot_id": [ { "id": "ANR45_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TZF3", "type": "external" } ], "mass": 29977.0, "length": 266, "protein_name": "Ankyrin repeat domain-containing protein 45", "gene_name": "ANKRD45", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 45", "refseq_ac": [ { "id": "NP_940895", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940895", "type": "external" } ], "gene_names_uniprotkb": "ANKRD45", "gene_names_refseq": "ANKRD45; CT117", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 45", "protein_names_refseq": "ankyrin repeat domain-containing protein 45; cancer/testis antigen 117", "tax_id": 9606, "disease": "", "pathway": " (hsa:339416)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "30429286;31208154;32157095;33912179;35051231;37938771", "class_list": "", "function": "May play a role during cell division., [UniProtKB, PubMed]; We show that the distribution of ANKRD45 protein was highly dynamic during mitosis. ANKRD45 is preferably localized to the midbody ring during cytokinesis. Together, our results suggest that Ankrd45 is a novel ankyrin repeat protein with a conserved role during cell proliferation in both zebrafish embryos and mammalian cells Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A1A4G2;Q6ZST1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0032154 cleavage furrow;GO:0030496 midbody;GO:0090543 Flemming body", "go_biological_process": "GO:0008283 cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q5TZF3-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VTE6-1", "uniprot_id": [ { "id": "ANGE2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VTE6", "type": "external" } ], "mass": 62339.0, "length": 544, "protein_name": "RNA 2',3'-cyclic phosphatase ANGEL2", "gene_name": "ANGEL2", "organism": "Human", "refseq_name": "RNA 2',3'-cyclic phosphatase ANGEL2 isoform b", "refseq_ac": [ { "id": "NP_001287682", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287682", "type": "external" } ], "gene_names_uniprotkb": "ANGEL2; KIAA0759L", "gene_names_refseq": "ANGEL2; Ccr4d; KIAA0759L", "protein_names_uniprotkb": "RNA 2',3'-cyclic phosphatase ANGEL2; 3.-.-.-", "protein_names_refseq": "RNA 2',3'-cyclic phosphatase ANGEL2 isoform b; RNA 2',3'-cyclic phosphatase ANGEL2; protein angel homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:90806)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "23301498;27846572;29557506;30429286;31844290;32157095;32357974;32387766;32502341;32732418;32938616;32983136;33141586;33298915;33912179;33968037;34357683;35051231;35580925;36010968;36180430;39534244", "class_list": "", "function": "ANGEL2 is a member of the CCR4 family of deadenylases with 2',3'-cyclic phosphatase activity., [RefSeq, PubMed]; RNA 2',3'-cyclic phosphatase that catalyzes the hydrolysis of RNA molecules with a 2',3'-cyclic phosphate at the 3' end to produce RNA with a linear 3'-phosphate group (PubMed:32732418, PubMed:36180430). Essential for the maturation and processing of mitochondrial RNAs, particularly those generated via non-canonical pathways (By similarity). Antagonizes pre-tRNA processing and XBP1 mRNA splicing during the unfolded protein response by limiting the availability of 2',3'-cyclic phosphate substrates for the tRNA ligase complex (PubMed:32732418). Promotes tRNA recycling by eliminating 2',3'-cyclic phosphate groups from cleaved tRNAs, thereby enabling the tRNA nucleotidyltransferase TRNT1 to reattach the CCA tail essential for aminoacylation and subsequent translation (PubMed:32732418)., [UniProtKB, 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": 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": 7, "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": "B7Z2U4;D3DTA3;Q86X13;Q8NHH3", "ec_number_list": [ { "id": "3.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.-.-.-", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003730 mRNA 3'-UTR binding;GO:0160273 RNA 2'-phosphatase activity;GO:0160272 RNA 2',3'-cyclic phosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0015030 Cajal body", "go_biological_process": "GO:0008033 tRNA processing;GO:0008380 RNA splicing;GO:0045930 negative regulation of mitotic cell cycle;GO:0070935 3'-UTR-mediated mRNA stabilization;GO:0033119 negative regulation of RNA splicing", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q5VTE6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VW22-1", "uniprot_id": [ { "id": "AGAP6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VW22", "type": "external" } ], "mass": 73127.0, "length": 663, "protein_name": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 6", "gene_name": "AGAP6", "organism": "Human", "refseq_name": "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 6", "refseq_ac": [ { "id": "NP_001071133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001071133", "type": "external" } ], "gene_names_uniprotkb": "AGAP6; CTGLF3", "gene_names_refseq": "AGAP-6; AGAP6; CTGLF3", "protein_names_uniprotkb": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 6; AGAP-6; Centaurin-gamma-like family member 3", "protein_names_refseq": "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 6; centaurin-gamma-like family member 3", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:414189)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;39894887", "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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "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": 0.5, "record_id": "Q5VW22-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NSI1-1", "uniprot_id": [ { "id": "AR26L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NSI1", "type": "external" } ], "mass": 35437.0, "length": 321, "protein_name": "Putative ankyrin repeat domain-containing protein 26-like protein", "gene_name": "ANKRD26P1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ANKRD26P1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative ankyrin repeat domain-containing protein 26-like protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q6NSI1-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z3H0-2", "uniprot_id": [ { "id": "PANKY_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z3H0", "type": "external" } ], "mass": 49403.0, "length": 452, "protein_name": "Photoreceptor ankyrin repeat protein", "gene_name": "ANKRD33", "organism": "Human", "refseq_name": "photoreceptor ankyrin repeat protein isoform 1", "refseq_ac": [ { "id": "NP_001123487", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123487", "type": "external" } ], "gene_names_uniprotkb": "ANKRD33; C12orf7; PANKY", "gene_names_refseq": "ANKRD33; C12orf7; PANKY", "protein_names_uniprotkb": "Photoreceptor ankyrin repeat protein; Ankyrin repeat domain-containing protein 33", "protein_names_refseq": "ankyrin repeat domain-containing protein 33; photoreceptor ankyrin repeat protein isoform 1; photoreceptor ankyrin repeat protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:341405)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "28218747;33592498;33691108;34087483;34509645;38838015", "class_list": "", "function": "Acts as a transcriptional repressor for CRX-activated photoreceptor gene regulation., [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": 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": 19, "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": "Q0VAA7;Q5K619;Q5K621;Q5K622;Q5K623;Q5K624;Q6ZUN0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q7Z3H0-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z591-1", "uniprot_id": [ { "id": "AKNA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z591", "type": "external" } ], "mass": 155139.0, "length": 1439, "protein_name": "Microtubule organization protein AKNA", "gene_name": "AKNA", "organism": "Human", "refseq_name": "microtubule organization protein AKNA isoform 1", "refseq_ac": [ { "id": "NP_001304879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304879", "type": "external" } ], "gene_names_uniprotkb": "AKNA; KIAA1968", "gene_names_refseq": "AKNA", "protein_names_uniprotkb": "Microtubule organization protein AKNA; AT-hook-containing transcription factor", "protein_names_refseq": "AKNA transcript F2; AT-hook transcription factor AKNA; AT-hook-containing transcription factor; microtubule organization protein AKNA isoform 1; microtubule organization protein AKNA", "tax_id": 9606, "disease": "", "pathway": " (hsa:80709)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "11268217;14654843;15869410;17081983;19690332;19913121;20058876;23186163;23481700;24714562;24715725;25576301;25645385;26154972;26375851;26728094;26992070;27846572;27862975;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30429286;30784271;31092671;31154438;31530632;31844290;31848261;32157095;32161166;32350084;32387766;32460535;32462010;32502341;32897882;32938616;32983136;33123756;33141586;33592498;33691108;33717175;33936100;33981976;34171305;34433824;34561969;34680889;34827707;34932366;35051231;35494241;35580925;36284347;36835622", "class_list": "", "function": "A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family. Publication Status: Online-Only, [RefSeq, PubMed]; AKNA Is a Potential Prognostic Biomarker in Gastric Cancer and Function as a Tumor Suppressor by Modulating EMT-Related Pathways. Publication Status: Online-Only, [RefSeq, PubMed]; AKNA expresses multiple transcripts and protein isoforms as a result of alternative promoter usage, splicing, and polyadenylation., [RefSeq, PubMed]; Centrosomal protein that plays a key role in cell delamination by regulating microtubule organization (By similarity). Required for the delamination and retention of neural stem cells from the subventricular zone during neurogenesis (By similarity). Also regulates the epithelial-to-mesenchymal transition in other epithelial cells (By similarity). Acts by increasing centrosomal microtubule nucleation and recruiting nucleation factors and minus-end stabilizers, thereby destabilizing microtubules at the adherens junctions and mediating constriction of the apical endfoot (By similarity). In addition, may also act as a transcription factor that specifically activates the expression of the CD40 receptor and its ligand CD40L/CD154, two cell surface molecules on lymphocytes that are critical for antigen-dependent-B-cell development (PubMed:11268217). Binds to A/T-rich promoters (PubMed:11268217). It is unclear how it can both act as a microtubule organizer and as a transcription factor; additional evidences are required to reconcile these two apparently contradictory functions (Probable)., [UniProtKB, UniProtKB, PubMed]; Critical Role of the Transcription Factor AKNA in T-Cell Activation: An Integrative Bioinformatics Approach. Publication Status: Online-Only, [RefSeq, PubMed]; Evaluation of Common Variants in the AKNA Gene and Susceptibility to Knee Osteoarthritis Among the Han Chinese., [RefSeq, PubMed]; Functional Role of AKNA: A Scoping Review. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "reported_glycation": 0, "reported_snv": 26, "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": "Q05BK5;Q5T535;Q5T536;Q5T537;Q64FX6;Q64FX7;Q64FX8;Q64FY2;Q6ZMK0;Q6ZNL2;Q6ZTX0;Q8TET1;Q8TF33;Q96RR9;Q9H7P7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005874 microtubule;GO:0016020 membrane;GO:0001650 fibrillar center", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0050727 regulation of inflammatory response;GO:0001837 epithelial to mesenchymal transition;GO:0021849 neuroblast division in subventricular zone", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q7Z591-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86W34-4", "uniprot_id": [ { "id": "AMZ2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86W34", "type": "external" } ], "mass": 41263.0, "length": 360, "protein_name": "Archaemetzincin-2", "gene_name": "AMZ2", "organism": "Human", "refseq_name": "archaemetzincin-2 isoform 1", "refseq_ac": [ { "id": "NP_001028741", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028741", "type": "external" } ], "gene_names_uniprotkb": "AMZ2; BM-014", "gene_names_refseq": "AMZ2", "protein_names_uniprotkb": "Archaemetzincin-2; 3.4.-.-; Archeobacterial metalloproteinase-like protein 2", "protein_names_refseq": "archaemetzincin-2 isoform 1; archaemetzincins-2; archeobacterial metalloproteinase-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:51321)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "15972818;17074343;22424782;23481700;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26992070;27600516;27846572;27893789;28254787;28832583;28904123;29242379;29437277;29493099;29557506;30315122;30429286;30524438;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32938616;33141586;33298915;33537174;33592498;33936100;33968037;33981976;34087483;34185709;34357683;36215666;36284347;37938771", "class_list": "", "function": "Probable zinc metalloprotease., [UniProtKB, UniProtKB]; The protein encoded by this gene is a zinc metalloprotease that displays some activity against angiotensin-3. The encoded protein is inhibited by the aminopeptidase inhibitor amastatin, as well as by the general inhibitors o-phenanthroline and batimastat. Defects in this gene may be associated with lung tumorigenesis. [provided by RefSeq, Oct 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NLD9;B3KR44;Q5XKF1;Q9NZE2", "ec_number_list": [], "go_molecular_function": "GO:0008237 metallopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q86W34-4", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVF2-1", "uniprot_id": [ { "id": "AHNK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVF2", "type": "external" } ], "mass": 616629.0, "length": 5795, "protein_name": "Protein AHNAK2", "gene_name": "AHNAK2", "organism": "Human", "refseq_name": "protein AHNAK2 isoform 1", "refseq_ac": [ { "id": "NP_612429", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612429", "type": "external" } ], "gene_names_uniprotkb": "AHNAK2; C14orf78; KIAA2019", "gene_names_refseq": "AHNAK2; C14orf78", "protein_names_uniprotkb": "Protein AHNAK2", "protein_names_refseq": "protein AHNAK2 isoform 1; protein AHNAK2", "tax_id": 9606, "disease": "", "pathway": " (hsa:113146)", "pathway_count": 1, "publication_count": 73, "publication_id_list": "10.1101/2023.09.13.557529;17081983;17185750;18669648;19608861;20068231;22028470;23186163;23481700;24675079;24714562;25505266;25576301;25645385;25755297;25772364;26758079;27600516;27726376;28657654;29242379;29393594;29557506;29786170;30059200;30379171;30429286;30484775;30620550;30833945;31217245;31373491;31492838;31844290;31848261;32157095;32161166;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33218938;33592498;33968037;33981976;34019948;34171305;34185709;34374294;34405274;34509645;34627772;35051231;35254053;35318648;35513511;35580925;36010968;36089788;36215666;36240223;36241641;37217939;37340703;37349884;37938771;38253038;39302247;39531497;39534244", "class_list": "", "function": "AHNAK2 Promotes the Progression of Differentiated Thyroid Cancer through PI3K/AKT Signaling Pathway., [RefSeq, PubMed]; AHNAK2 is a novel prognostic marker and correlates with immune infiltration in papillary thyroid cancer: Evidence from integrated analysis., [RefSeq, PubMed]; AHNAK2 promotes thyroid carcinoma progression by activating the NF-kappaB pathway., [RefSeq, PubMed]; Downregulation of AHNAK2 inhibits cell cycle of lung adenocarcinoma cells by interacting with RUVBL1., [RefSeq, PubMed]; Periaxin and AHNAK nucleoprotein 2 form intertwined homodimers through domain swapping, [RefSeq, PubMed]; Silencing of AHNAK2 restricts thyroid carcinoma progression by inhibiting the Wnt/beta-catenin pathway., [RefSeq, PubMed]; This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associating with calcium channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]., [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": 32, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 32, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 32, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 33, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 258, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 37, "binding_glycan_count": 0, "secondary_ac_list": "Q5BKX7;Q7Z343;Q7Z358;Q7Z394;Q7Z3G0;Q86WQ6;Q8IYY1;Q8N3G4;Q96EX9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0042383 sarcolemma", "go_biological_process": "GO:0043484 regulation of RNA splicing", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q8IVF2-1", "record_type": "protein", "filter_code": "0000000.1000101.000100.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9V6-1", "uniprot_id": [ { "id": "ANR53_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9V6", "type": "external" } ], "mass": 59571.0, "length": 530, "protein_name": "Ankyrin repeat domain-containing protein 53", "gene_name": "ANKRD53", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 53 isoform a", "refseq_ac": [ { "id": "NP_001108588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001108588", "type": "external" } ], "gene_names_uniprotkb": "ANKRD53", "gene_names_refseq": "ANKRD53", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 53", "protein_names_refseq": "ankyrin repeat domain-containing protein 53 isoform a; ankyrin repeat domain-containing protein 53", "tax_id": 9606, "disease": "", "pathway": " (hsa:79998)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "10.1101/2023.09.13.557529;11237011;23481700;26820536;35051231;39894887", "class_list": "", "function": "Required for normal progression through mitosis. Involved in chromosome alignment and cytokinesis via regulation of microtubules polymerization., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Thus, ANKRD53 is recruited to the mitotic spindle by DDA3 and acts as a regulator of spindle dynamics and cytokinesis., [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": 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": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q8IYP8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000922 spindle pole;GO:0005819 spindle", "go_biological_process": "GO:0051301 cell division;GO:0007080 mitotic metaphase chromosome alignment;GO:0031116 positive regulation of microtubule polymerization;GO:0060236 regulation of mitotic spindle organization;GO:1902412 regulation of mitotic cytokinesis", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8N9V6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDG2-1", "uniprot_id": [ { "id": "ACTT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDG2", "type": "external" } ], "mass": 41696.0, "length": 376, "protein_name": "Actin-related protein T1", "gene_name": "ACTRT1", "organism": "Human", "refseq_name": "actin-related protein T1", "refseq_ac": [ { "id": "NP_612146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612146", "type": "external" } ], "gene_names_uniprotkb": "ACTRT1; ARPT1; HSD27", "gene_names_refseq": "ACTRT1; AIP1; ARIP1; ARPT1; HSD27", "protein_names_uniprotkb": "Actin-related protein T1; ARP-T1", "protein_names_refseq": "actin-related protein T1", "tax_id": 9606, "disease": "", "pathway": " (hsa:139741)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "12243744;28869610;30379171;31429579;31844290;33972689;35051231;38253038;38414365", "class_list": "", "function": "ARP-T1-associated Bazex-Dupre-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies. Publication Status: Online-Only, [RefSeq, PubMed]; Deletion of ACTRT1 is associated with male infertility as sperm acrosomal ultrastructural defects and fertilization failure in human., [RefSeq, PubMed]; 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]; Negatively regulates the Hedgehog (SHH) signaling. Binds to the promoter of the SHH signaling mediator, GLI1, and inhibits its expression., [UniProtKB, PubMed]; Study identified mutations in the ACTRT1 gene, which encodes actin-related protein T1 (ARP-T1), in two of the six families with Bazex-Dupre-Christol syndrome (BDCS) that were examined in this study. ARP-T1 was found to directly bind to the GLI1 promoter, thus inhibiting GLI1 expression, and loss of ARP-T1 led to activation of the Hedgehog pathway in individuals with BDCS. Erratum:[Nat Med. 2025 Apr;31(4):1364. doi: 10.1038/s41591-025-03531-y. PMID: 39915680], [RefSeq, PubMed]; This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely functions in spermatid formation. This gene is intronless and is similar to a related gene located on chromosome 1. A related pseudogene has also been identified approximately 75 kb downstream of this gene on chromosome X. [provided by RefSeq, May 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": 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": 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": "Q6X7C1;Q96L10", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0005200 structural constituent of cytoskeleton", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0015629 actin cytoskeleton;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0008589 regulation of smoothened signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8TDG2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TF27-1", "uniprot_id": [ { "id": "AGA11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TF27", "type": "external" } ], "mass": 60549.0, "length": 550, "protein_name": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 11", "gene_name": "AGAP11", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "AGAP11; KIAA1975", "gene_names_refseq": "", "protein_names_uniprotkb": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 11; AGAP-11; Centaurin-gamma-like protein KIAA1975", "protein_names_refseq": "", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "28228285;31844290;32938616;35051231", "class_list": "", "function": "Putative GTPase-activating protein., [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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B9EIP7;D3DWE4", "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": 0.5, "record_id": "Q8TF27-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92685-1", "uniprot_id": [ { "id": "ALG3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92685", "type": "external" } ], "mass": 50126.0, "length": 438, "protein_name": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase", "gene_name": "ALG3", "organism": "Human", "refseq_name": "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform d", "refseq_ac": [ { "id": "NP_001006942", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006942", "type": "external" } ], "gene_names_uniprotkb": "ALG3; NOT56L; NOT", "gene_names_refseq": "ALG3; CDG1D; CDGS4; CDGS6; D16Ertd36e; NOT56L; Not56; not", "protein_names_uniprotkb": "Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase; 2.4.1.258; Asparagine-linked glycosylation protein 3 homolog; Dol-P-Man-dependent alpha(1-3)-mannosyltransferase; Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase; Dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase; Not56-like protein", "protein_names_refseq": "Not56-like protein; asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase); asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase); asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog; asparagine-linked glycosylation protein 3 homolog; carbohydrate deficient glycoprotein syndrome type IV; dol-P-Man-dependent alpha(1-3)-mannosyltransferase; dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform d; dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase; dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase; dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase", "tax_id": 9606, "disease": "congenital disorder of glycosylation Id (Disease Ontology:DOID:0080556); congenital disorder of glycosylation (Disease Ontology:DOID:5212)", "pathway": " (hsa:10195); (R-HSA-446193); (R-HSA-4720475)", "pathway_count": 3, "publication_count": 97, "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;17551933;18212344;18313027;18597486;18669648;18691976;18767875;19282279;19413330;19651622;20068231;20166139;22742743;22898188;23186163;23481700;24715725;25418920;25645385;25880248;26154972;26811146;26992070;27600516;27846572;27920218;28218747;28228285;28514659;28904123;29393594;29437277;29493099;29769354;30315122;30410026;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33633747;33691108;33912179;33936100;33968037;34087483;34185709;34211107;34405274;34509645;34561969;34932366;35051231;35580925;35676564;35980117;36010968;36215666;36231102;36241641;38329424;38597022;8552211;9451016;9597543", "class_list": "glycogene;glycosyltransferase", "function": "ALG3 Promotes Peritoneal Metastasis of Ovarian Cancer through Increasing Interaction of alpha1,3-mannosylated uPAR and ADAM8. Publication Status: Online-Only, [RefSeq, PubMed]; CircPTK2 promotes cell viability, cell cycle process, and glycolysis and inhibits cell apoptosis in acute myeloid leukemia by regulating miR-582-3p/ALG3 axis., [RefSeq, PubMed]; Comprehensive analysis of ALG3 in pan-cancer and validation of ALG3 as an onco-immunological biomarker in breast cancer., [RefSeq, PubMed]; Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG., [RefSeq, PubMed]; Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-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, adds the first dolichyl beta-D-mannosyl phosphate derived mannose in an alpha-1,3 linkage to Man(5)GlcNAc(2)-PP-dolichol to produce Man(6)GlcNAc(2)-PP-dolichol., [UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB]; Inhibition of ALG3 stimulates cancer cell immunogenic ferroptosis to potentiate immunotherapy. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 589, "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": "A8JZZ6;Q9BT71", "ec_number_list": [ { "id": "2.4.1.258", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.258", "type": "external" } ], "go_molecular_function": "GO:0000033 alpha-1,3-mannosyltransferase activity;GO:0052925 dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;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": 1389, "hit_score": 9.8, "record_id": "Q92685-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92688-1", "uniprot_id": [ { "id": "AN32B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92688", "type": "external" } ], "mass": 28788.0, "length": 251, "protein_name": "Acidic leucine-rich nuclear phosphoprotein 32 family member B", "gene_name": "ANP32B", "organism": "Human", "refseq_name": "acidic leucine-rich nuclear phosphoprotein 32 family member B", "refseq_ac": [ { "id": "NP_006392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006392", "type": "external" } ], "gene_names_uniprotkb": "ANP32B; APRIL; PHAPI2", "gene_names_refseq": "ANP32B; APRIL; PHAPI2; SSP29", "protein_names_uniprotkb": "Acidic leucine-rich nuclear phosphoprotein 32 family member B; Acidic protein rich in leucines; PHAPI2; Putative HLA-DR-associated protein I-2; Silver-stainable protein SSP29", "protein_names_refseq": "acidic (leucine-rich) nuclear phosphoprotein 32 family, member B; acidic leucine-rich nuclear phosphoprotein 32 family member B; acidic protein rich in leucines; putative HLA-DR-associated protein I-2; silver-stainable protein SSP29", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:10541)", "pathway_count": 1, "publication_count": 110, "publication_id_list": "10.1101/2023.09.13.557529;14654843;15895553;16094384;17081983;17178712;18039846;18318008;19130553;19608861;19651622;20015864;20068231;20538007;21159877;21406692;22424782;22898188;23186163;23481700;24275569;24366607;24715725;24823948;25418920;25576301;25645385;26154972;26375851;26768311;26992070;27543614;27600516;27846572;27920218;28228285;28832583;28860189;28904123;29242379;29393594;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30524438;30779550;31154438;31217244;31217245;31222486;31530632;31611695;31793855;31844290;31848261;31937595;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33043033;33045004;33091337;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34561969;34932366;35051231;35083852;35138101;35251023;35318648;35580925;36010968;36215666;36241641;36642319;37217939;37858472;37938771;38266312;38665916;38750014;40914422;9473664", "class_list": "", "function": "(Microbial infection) Plays an essential role in influenza A and B viral genome replication (PubMed:31217244, PubMed:33045004). Also plays a role in foamy virus mRNA export from the nucleus to the cytoplasm (PubMed:21159877)., [UniProtKB, PubMed, PubMed, PubMed]; ANP32B inhibition suppresses the growth of prostate cancer cells by regulating c-Myc signaling., [RefSeq, PubMed]; ANP32B promotes lung cancer progression by regulating VDAC1., [RefSeq, PubMed]; Multifunctional protein that is involved in the regulation of many processes including cell proliferation, apoptosis, cell cycle progression or transcription (PubMed:18039846, PubMed:20015864). Regulates the proliferation of neuronal stem cells, differentiation of leukemic cells and progression from G1 to S phase of the cell cycle. As negative regulator of caspase-3-dependent apoptosis, may act as an antagonist of ANP32A in regulating tissue homeostasis (PubMed:20015864). Exhibits histone chaperone properties, able to recruit histones to certain promoters, thus regulating the transcription of specific genes (PubMed:18039846, PubMed:20538007). Also plays an essential role in the nucleocytoplasmic transport of specific mRNAs via the uncommon nuclear mRNA export receptor XPO1/CRM1 (PubMed:17178712). Participates in the regulation of adequate adaptive immune responses by acting on mRNA expression and cell proliferation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Structures of H5N1 influenza polymerase with ANP32B reveal mechanisms of genome replication and host adaptation. Publication Status: Online-Only, [RefSeq, PubMed]; The histone chaperone ANP32B regulates chromatin incorporation of the atypical human histone variant macroH2A., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 1, "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": "B2R9C7;O00655;P78458;P78459", "ec_number_list": [], "go_molecular_function": "GO:0042393 histone binding;GO:0070063 RNA polymerase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0046827 positive regulation of protein export from nucleus;GO:0042981 regulation of apoptotic process;GO:0006334 nucleosome assembly;GO:0045596 negative regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q92688-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BJ3-1", "uniprot_id": [ { "id": "AIDA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BJ3", "type": "external" } ], "mass": 35023.0, "length": 306, "protein_name": "Axin interactor, dorsalization-associated protein", "gene_name": "AIDA", "organism": "Human", "refseq_name": "axin interactor, dorsalization-associated protein", "refseq_ac": [ { "id": "NP_073742", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073742", "type": "external" } ], "gene_names_uniprotkb": "AIDA; C1orf80", "gene_names_refseq": "AIDA; C1orf80", "protein_names_uniprotkb": "Axin interactor, dorsalization-associated protein; Axin interaction partner and dorsalization antagonist", "protein_names_refseq": "axin interaction partner and dorsalization antagonist; axin interactor, dorsalization-associated protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:64853)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "17681137;18669648;19690332;26992070;29557506;30429286;31287004;31844290;32157095;32488085;33936100;33968037;35051231;35580925;36184552;37938771", "class_list": "", "function": "Acts as a ventralizing factor during embryogenesis. Inhibits axin-mediated JNK activation by binding axin and disrupting axin homodimerization. This in turn antagonizes a Wnt/beta-catenin-independent dorsalization pathway activated by AXIN/JNK-signaling (By similarity)., [UniProtKB]; Genetic variant acts in the vascular endothelium to modulate inter-individual risk in coronary artery disease Publication Status: Online-Only, [RefSeq, PubMed]; MiR-32-5p/AIDA Mediates OxLDL-Induced Endothelial Injury and Inflammation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K1F0;Q49A81;Q5JRA4;Q658P1;Q9H9E8", "ec_number_list": [], "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0031333 negative regulation of protein-containing complex assembly;GO:0009953 dorsal/ventral pattern formation;GO:0043508 negative regulation of JUN kinase activity;GO:0046329 negative regulation of JNK cascade;GO:0048264 determination of ventral identity", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q96BJ3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96SZ5-1", "uniprot_id": [ { "id": "AEDO_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96SZ5", "type": "external" } ], "mass": 29751.0, "length": 270, "protein_name": "2-aminoethanethiol dioxygenase", "gene_name": "ADO", "organism": "Human", "refseq_name": "2-aminoethanethiol dioxygenase", "refseq_ac": [ { "id": "NP_116193", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116193", "type": "external" } ], "gene_names_uniprotkb": "ADO; C10orf22", "gene_names_refseq": "ADO; C10orf22", "protein_names_uniprotkb": "2-aminoethanethiol dioxygenase; 1.13.11.19; Cysteamine dioxygenase", "protein_names_refseq": "2-aminoethanethiol (cysteamine) dioxygenase; 2-aminoethanethiol dioxygenase; cysteamine (2-aminoethanethiol) dioxygenase (ADO); cysteamine dioxygenase", "tax_id": 9606, "disease": "", "pathway": " (hsa:84890); (R-HSA-1614558)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10212249;11237011;12871026;16195549;17135237;17581819;18872649;19261609;19625201;20877624;22718265;23038267;23301498;23413359;236774;23698001;26327310;26437775;26992070;27484215;27920218;28412453;28832583;28834231;29055825;29242379;29372909;29557506;29752763;30429286;31092671;31273118;31844290;31848261;32156684;32437414;32601061;32983136;33592498;33912179;33968037;34508780;34561969;35051231;35132862;36010968;9070219;9537447", "class_list": "", "function": "Characterization of the nonheme iron center of cysteamine dioxygenase and its interaction with substrates., [RefSeq, PubMed]; Crystal structure of human cysteamine dioxygenase provides a structural rationale for its function as an oxygen sensor., [RefSeq, PubMed]; Human thiol dioxygenases include cysteine dioxygenase (CDO; MIM 603943) and cysteamine (2-aminoethanethiol) dioxygenase (ADO; EC 1.13.11.19). CDO adds 2 oxygen atoms to free cysteine, whereas ADO adds 2 oxygen atoms to free cysteamine to form hypotaurine (Dominy et al., 2007 [PubMed 17581819]).[supplied by OMIM, Mar 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Plays a vital role in regulating thiol metabolism and preserving oxygen homeostasis by oxidizing the sulfur of cysteamine and N-terminal cysteine-containing proteins to their corresponding sulfinic acids using O2 as a cosubstrate (PubMed:17581819, PubMed:29752763, PubMed:31273118, PubMed:32601061). Catalyzes the oxidation of cysteamine (2-aminoethanethiol) to hypotaurine (PubMed:17581819, PubMed:29752763, PubMed:32601061). Catalyzes the oxidation of regulators of G protein signaling 4 (RGS4) and 5 (RGS5) and interleukin-32 (IL32) (PubMed:31273118, PubMed:32601061)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Variants in IL23R-C1orf141 and ADO-ZNF365-EGR2 are associated with susceptibility to Vogt-Koyanagi-Harada disease in Japanese population. Publication Status: Online-Only, [RefSeq, PubMed]; When endogenous expression of the human ADO ortholog C10orf22 in HepG2/C3A cells was reduced by RNA-mediated interference, hypotaurine production decreased, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1AL29", "ec_number_list": [ { "id": "1.13.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.19", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0047800 cysteamine dioxygenase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0071456 cellular response to hypoxia", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q96SZ5-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99490-1", "uniprot_id": [ { "id": "AGAP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99490", "type": "external" } ], "mass": 124591.0, "length": 1192, "protein_name": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2", "gene_name": "AGAP2", "organism": "Human", "refseq_name": "arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 isoform PIKE-L", "refseq_ac": [ { "id": "NP_001116244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116244", "type": "external" } ], "gene_names_uniprotkb": "AGAP2; CENTG1; KIAA0167", "gene_names_refseq": "AGAP2; CENTG1; GGAP2; PIKE", "protein_names_uniprotkb": "Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2; AGAP-2; Centaurin-gamma-1; Cnt-g1; GGAP2; GTP-binding and GTPase-activating protein 2; PIKE; Phosphatidylinositol 3-kinase enhancer", "protein_names_refseq": "Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 2; GTP-binding and GTPase activating protein 2; arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 isoform PIKE-L; arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2; centaurin, gamma 1; phosphatidylinositol 3-kinase enhancer; phosphoinositide 3-kinase enhancer", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); syndromic intellectual disability (Disease Ontology:DOID:0050888); autism spectrum disorder (Disease Ontology:DOID:0060041); prostate cancer (Disease Ontology:DOID:10283)", "pathway": " (hsa:116986); (R-HSA-373752)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "11237011;12154370;12640130;14528310;14761976;15118108;16079295;16150119;16263930;16762451;16841086;16959974;17037982;17174565;18371979;18487454;19176382;19690332;23481700;26154972;26375851;26992070;27846572;27920218;28063628;28218747;28228285;28368413;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30192525;30315122;30379171;30410026;30620550;30660615;30674964;31154438;31386624;31530632;31844290;32157095;32350084;32387766;32502341;32897882;32983136;33298915;33968037;33981976;34411567;35051231;35580925;35705054;37217939;38253038;40307207;40914422;9192850;9858595", "class_list": "", "function": "Chromatin immunoprecipitation studies revealed the presence of RARalpha, RXRalpha and the lysine acetyl transferase PCAF in AGAP2 promoter. Publication Status: Online-Only, [RefSeq, PubMed]; Exosomes derived from microRNA-199a-overexpressing mesenchymal stem cells inhibit glioma progression by down-regulating AGAP2., [RefSeq, PubMed]; GTPase-activating protein (GAP) for ARF1 and ARF5, which also shows strong GTPase activity. Isoform 1 participates in the prevention of neuronal apoptosis by enhancing PI3 kinase activity. It aids the coupling of metabotropic glutamate receptor 1 (GRM1) to cytoplasmic PI3 kinase by interacting with Homer scaffolding proteins, and also seems to mediate anti-apoptotic effects of NGF by activating nuclear PI3 kinase. Isoform 2 does not stimulate PI3 kinase but may protect cells from apoptosis by stimulating Akt. It also regulates the adapter protein 1 (AP-1)-dependent trafficking of proteins in the endosomal system. It seems to be oncogenic. It is overexpressed in cancer cells, prevents apoptosis and promotes cancer cell invasion., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; PIKE-A promotes glioblastoma growth by driving PPP flux through increasing G6PD expression mediated by phosphorylation of STAT3., [RefSeq, PubMed]; The protein encoded by this gene belongs to the centaurin gamma-like family. It mediates anti-apoptotic effects of nerve growth factor by activating nuclear phosphoinositide 3-kinase. It is overexpressed in cancer cells, and promotes cancer cell invasion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]; The role of AGAP2 in the pro-fibrogenic phenotype of hepatic stellate cells in response to TGFbeta., [RefSeq, PubMed]; These findings support that PIKE amplification or overexpression coordinately acts with CDK4 to drive glioblastoma tumorigenesis., [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": 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": 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": 8, "binding_glycan_count": 0, "secondary_ac_list": "A8K9F7;F8VVT9;O00578;Q548E0;Q8IWU3", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity;GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005829 cytosol", "go_biological_process": "GO:0015031 protein transport;GO:0045860 positive regulation of protein kinase activity;GO:0030036 actin cytoskeleton organization;GO:0043524 negative regulation of neuron apoptotic process;GO:0016197 endosomal transport", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q99490-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXX2-1", "uniprot_id": [ { "id": "AN30B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXX2", "type": "external" } ], "mass": 158049.0, "length": 1392, "protein_name": "Ankyrin repeat domain-containing protein 30B", "gene_name": "ANKRD30B", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ANKRD30B", "gene_names_refseq": "", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 30B; Serologically defined breast cancer antigen NY-BR-1.1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:374860)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;11280766;24714562;28832583;29242379;31154438;31530632;31844290;32157095;32502341;32938616;35051231;36010968;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": 19, "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": "B4DGP1;F8WAG3;Q4G175", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9BXX2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BY76-1", "uniprot_id": [ { "id": "ANGL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BY76", "type": "external" } ], "mass": 45214.0, "length": 406, "protein_name": "Angiopoietin-related protein 4", "gene_name": "ANGPTL4", "organism": "Human", "refseq_name": "angiopoietin-related protein 4 isoform b precursor", "refseq_ac": [ { "id": "NP_001034756", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034756", "type": "external" } ], "gene_names_uniprotkb": "ANGPTL4; ARP4; HFARP; PGAR; PP1158; PRO197; PSEC0166", "gene_names_refseq": "ANGPTL4; ARP4; FIAF; HARP; HFARP; NL2; PGAR; TGQTL; UNQ171; pp1158", "protein_names_uniprotkb": "Angiopoietin-related protein 4; Angiopoietin-like protein 4; HFARP; Hepatic fibrinogen/angiopoietin-related protein", "protein_names_refseq": "PPARG angiopoietin related protein; angiopoietin-related protein 4 isoform b precursor; angiopoietin-related protein 4; fasting-induced adipose factor; hepatic angiopoietin-related protein; hepatic fibrinogen/angiopoietin-related protein; peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:51129); (R-HSA-1989781); (R-HSA-381340); (R-HSA-8963889); (R-HSA-9762292); (R-HSA-9841922)", "pathway_count": 6, "publication_count": 132, "publication_id_list": "10.1101/2023.09.13.557529;10075656;10320525;10425206;10558993;10698685;10777541;10835357;10866690;10882139;10900462;11027271;11095972;11237011;11267664;11872672;11953136;12015030;12118000;12177166;12213831;12505311;12582161;12829629;12975309;1301939;1310260;14583458;15067378;15130092;15273253;15284087;15635043;15800215;15850785;15919796;16109723;16380219;16972786;17011499;17068295;17088546;17322881;17761950;17883852;17980149;17994020;17997385;18540824;18719978;18848529;18931025;19019854;19043829;19088433;19115207;19172745;19270337;19304573;19361614;19710929;19934321;20101261;20110263;20356926;20581395;20829508;21398697;21666694;21719679;21844202;22262056;22462789;22569073;22740495;23020258;23090970;23150577;23239344;24190977;24196956;24397894;24909692;24960069;25387803;25466890;26933753;26934567;26934667;27929370;28740178;29110486;29391424;29557506;29713054;29786170;29899144;29899519;30459171;31154438;31844290;32125861;32350084;33329381;35051231;35251023;35580925;37074911;39369030;39470400;7592670;7685352;7892212;8020465;8325954;8485124;8521497;8521498;8643605;8647822;8706692;8770873;8970730;9012850;9065481;9136889;9171241;9379936;9454824;9744270;9748239;9836620", "class_list": "", "function": "ANGPTL4 plays a paradoxical role in gastric cancer through the LGALS7 and Hedgehog pathways. Publication Status: Online-Only, [RefSeq, PubMed]; Correlation between serum ANGPTL4 levels and white matter hyperintensity and cognitive impairment in patients with cerebral small vessel disease., [RefSeq, PubMed]; Health issues associated with ANGPTL4 expression, including obesity, Type 2 diabetes, cardiovascular diseases and cancer. [Review] Review article, [RefSeq, PubMed]; Mediates inactivation of the lipoprotein lipase LPL, and thereby plays a role in the regulation of triglyceride clearance from the blood serum and in lipid metabolism (PubMed:19270337, PubMed:21398697, PubMed:27929370, PubMed:29899144). May also play a role in regulating glucose homeostasis and insulin sensitivity (Probable). Inhibits proliferation, migration, and tubule formation of endothelial cells and reduces vascular leakage (PubMed:14583458, PubMed:17068295). Upon heterologous expression, inhibits the adhesion of endothelial cell to the extracellular matrix (ECM), and inhibits the reorganization of the actin cytoskeleton, formation of actin stress fibers and focal adhesions in endothelial cells that have adhered to ANGPTL4-containing ECM (in vitro) (PubMed:17068295). Depending on context, may modulate tumor-related angiogenesis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Mediates inactivation of the lipoprotein lipase LPL, and thereby plays an important role in the regulation of triglyceride clearance from the blood serum and in lipid metabolism (PubMed:19270337, PubMed:21398697, PubMed:27929370, PubMed:29899144). Has higher activity in LPL inactivation than the uncleaved protein (PubMed:19270337, PubMed:21398697)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The cleavage of ANGPTL4 by these PCs modulates its inhibitory effect on LPL activity., [RefSeq, PubMed]; This gene encodes a glycosylated, secreted protein containing a C-terminal fibrinogen domain. The encoded protein is induced by peroxisome proliferation activators and functions as a serum hormone that regulates glucose homeostasis, lipid metabolism, and insulin sensitivity. This protein can also act as an apoptosis survival factor for vascular endothelial cells and can prevent metastasis by inhibiting vascular growth and tumor cell invasion. The C-terminal domain may be proteolytically-cleaved from the full-length secreted protein. Decreased expression of this gene has been associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4. [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": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 831, "biomarker_type": "", "glycan_count": 25, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8MY84;B4E089;D6W670;F5H0I2;Q53HQ6;Q53HU1;Q6UXN0;Q9HBV4;Q9NZU4;Q9Y5B3", "ec_number_list": [], "go_molecular_function": "GO:0004857 enzyme inhibitor activity;GO:0042802 identical protein binding;GO:0055102 lipase inhibitor activity;GO:0035473 lipase binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0072562 blood microparticle", "go_biological_process": "GO:0043335 protein unfolding;GO:0001525 angiogenesis;GO:0006629 lipid metabolic process;GO:0043066 negative regulation of apoptotic process;GO:0045717 negative regulation of fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "Q9BY76-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYD9-1", "uniprot_id": [ { "id": "ACTT3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYD9", "type": "external" } ], "mass": 41008.0, "length": 372, "protein_name": "Actin-related protein T3", "gene_name": "ACTRT3", "organism": "Human", "refseq_name": "actin-related protein T3", "refseq_ac": [ { "id": "NP_115876", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115876", "type": "external" } ], "gene_names_uniprotkb": "ACTRT3; ARPM1", "gene_names_refseq": "ACTRT3; ARP-T3; ARPM1", "protein_names_uniprotkb": "Actin-related protein T3; ARP-T3; Actin-related protein M1", "protein_names_refseq": "actin-related protein M1; actin-related protein T3", "tax_id": 9606, "disease": "", "pathway": " (hsa:84517)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11750065;26992070;30429286;33968037;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": 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": "Q96IS0;Q96NJ0", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton", "go_cellular_component": "GO:0005737 cytoplasm;GO:0015629 actin cytoskeleton;GO:0001673 male germ cell nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q9BYD9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H161-1", "uniprot_id": [ { "id": "ALX4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H161", "type": "external" } ], "mass": 44241.0, "length": 411, "protein_name": "Homeobox protein aristaless-like 4", "gene_name": "ALX4", "organism": "Human", "refseq_name": "homeobox protein aristaless-like 4", "refseq_ac": [ { "id": "NP_068745", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068745", "type": "external" } ], "gene_names_uniprotkb": "ALX4; KIAA1788", "gene_names_refseq": "ALX4; CRS5; FND2", "protein_names_uniprotkb": "Homeobox protein aristaless-like 4", "protein_names_refseq": "aristaless-like homeobox 4; homeobox protein aristaless-like 4; homeodomain transcription factor ALX4", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability (Disease Ontology:DOID:0050776); parietal foramina (Disease Ontology:DOID:0060285); frontonasal dysplasia 2 (Disease Ontology:DOID:0081046); Potocki-Shaffer syndrome (Disease Ontology:DOID:0111687); non-syndromic X-linked intellectual disability 1 (Disease Ontology:DOID:0112038); lung cancer (Disease Ontology:DOID:1324); craniosynostosis (Disease Ontology:DOID:2340); gastric adenocarcinoma (Disease Ontology:DOID:3717); lung adenocarcinoma (Disease Ontology:DOID:3910); bronchiolo-alveolar adenocarcinoma (Disease Ontology:DOID:4926); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256); craniosynostosis 5, susceptibility to (MONDO:MONDO:0014232)", "pathway": " (hsa:60529)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11017806;11106354;11137991;11903336;19692347;22829454;23186163;30429286;30620550;31848261;32385972;32856218;33369125;34586326;35513511;37724761;40596516", "class_list": "", "function": "De novo ALX4 variant detected in child with non-syndromic craniosynostosis. Publication Status: Online-Only, [RefSeq, PubMed]; Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4., [RefSeq, PubMed]; Overexpression of circ_0001445 decelerates hepatocellular carcinoma progression by regulating miR-942-5p/ALX4 axis., [RefSeq, PubMed]; This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, cognitive disability, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]., [RefSeq]; Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development., [UniProtKB, PubMed]; Variants in ALX4 and their association with genitourinary defects., [RefSeq, PubMed]; Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 18, "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": "Q96JN7;Q9H198;Q9HAY9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0071837 HMG box domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;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:0001501 skeletal system development;GO:0001942 hair follicle development;GO:0048666 neuron development", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9H161-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2A2-1", "uniprot_id": [ { "id": "AL8A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2A2", "type": "external" } ], "mass": 53401.0, "length": 487, "protein_name": "2-aminomuconic semialdehyde dehydrogenase", "gene_name": "ALDH8A1", "organism": "Human", "refseq_name": "2-aminomuconic semialdehyde dehydrogenase isoform 3", "refseq_ac": [ { "id": "NP_001180409", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180409", "type": "external" } ], "gene_names_uniprotkb": "ALDH8A1; ALDH12", "gene_names_refseq": "ALDH12; ALDH8A1; DJ352A20.2", "protein_names_uniprotkb": "2-aminomuconic semialdehyde dehydrogenase; 1.2.1.32; Aldehyde dehydrogenase 12; Aldehyde dehydrogenase family 8 member A1", "protein_names_refseq": "2-aminomuconic semialdehyde dehydrogenase isoform 3; 2-aminomuconic semialdehyde dehydrogenase; aldehyde dehydrogenase 12; aldehyde dehydrogenase family protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:64577); (R-HSA-5365859)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "10329026;10369264;10839978;11007799;11237011;11245473;12036956;12226107;12680773;14532297;14596915;18039331;18805086;1889753;19343046;20801113;21529158;21621639;21851338;22019272;23220587;24275569;2935875;29557506;29703752;3013304;30379171;31844290;32938616;35051231;35580925;8493914;9228021;9677409;9705317", "class_list": "", "function": "Catalyzes the NAD-dependent oxidation of 2-aminomuconic semialdehyde of the kynurenine metabolic pathway in L-tryptophan degradation., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the aldehyde dehydrogenase family of proteins. The encoded protein has been implicated in the synthesis of 9-cis-retinoic acid and in the breakdown of the amino acid tryptophan. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. In addition, this enzyme has been shown to catalyze the conversion of 2-aminomuconic semialdehyde to 2-aminomuconate in the kynurenine pathway of tryptophan catabolism. [provided by RefSeq, Jul 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": 1, "reported_mutagensis": 3, "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": "B7Z521;O60793;Q24JS9;Q53GT3;Q5TI80", "ec_number_list": [ { "id": "1.2.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.32", "type": "external" } ], "go_molecular_function": "GO:0001758 retinal dehydrogenase (NAD+) activity;GO:0047102 aminomuconate-semialdehyde dehydrogenase activity;GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0097053 L-kynurenine catabolic process;GO:0042573 retinoic acid metabolic process;GO:0042574 retinal metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9H2A2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9L7-1", "uniprot_id": [ { "id": "AKIR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9L7", "type": "external" } ], "mass": 21867.0, "length": 192, "protein_name": "Akirin-1", "gene_name": "AKIRIN1", "organism": "Human", "refseq_name": "akirin-1 isoform 2", "refseq_ac": [ { "id": "NP_001129747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129747", "type": "external" } ], "gene_names_uniprotkb": "AKIRIN1; C1orf108", "gene_names_refseq": "AKIRIN1; C1orf108; STRF2", "protein_names_uniprotkb": "Akirin-1", "protein_names_refseq": "akirin-1 isoform 2", "tax_id": 9606, "disease": "opportunistic bacterial infectious disease (Disease Ontology:DOID:0050340)", "pathway": " (hsa:79647)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "11237011;18066067;18669648;19651622;21406692;23186163;23481700;24366607;24714562;24715725;25576301;25892735;26154972;26375851;26728094;26992070;27600516;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29769354;29786170;30315122;30410026;30484775;31075840;31154438;31530632;31844290;31848261;32157095;32350084;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33968037;34171305;34711951;35051231;35580925;36010968;36215666;36241641;36581221;37938771", "class_list": "", "function": "Inspection of external neutrophil transcriptome datasets further support unchanged AKIRIN1 expression in human systemic inflammation. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular adapter that acts as a bridge between proteins, and which is involved skeletal muscle development (By similarity). Functions as a signal transducer for MSTN during skeletal muscle regeneration and myogenesis (By similarity). May regulate chemotaxis of both macrophages and myoblasts by reorganising actin cytoskeleton, leading to more efficient lamellipodia formation via a PI3 kinase dependent pathway (By similarity). In contrast to AKIRIN2, not involved in nuclear import of proteasomes (PubMed:34711951)., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "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": "B4DZU6;Q0VDB3;Q53FK8", "ec_number_list": [], "go_molecular_function": "GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0014839 myoblast migration involved in skeletal muscle regeneration;GO:0010592 positive regulation of lamellipodium assembly;GO:0045663 positive regulation of myoblast differentiation;GO:0010759 positive regulation of macrophage chemotaxis", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q9H9L7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUB1-1", "uniprot_id": [ { "id": "ACS2L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUB1", "type": "external" } ], "mass": 74857.0, "length": 689, "protein_name": "Acetyl-coenzyme A synthetase 2-like, mitochondrial", "gene_name": "ACSS1", "organism": "Human", "refseq_name": "acetyl-coenzyme A synthetase 2-like, mitochondrial isoform 2 precursor", "refseq_ac": [ { "id": "NP_001239604", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239604", "type": "external" } ], "gene_names_uniprotkb": "ACSS1; ACAS2L; KIAA1846", "gene_names_refseq": "ACAS2L; ACECS1; ACSS1; AceCS2L", "protein_names_uniprotkb": "Acetyl-coenzyme A synthetase 2-like, mitochondrial; 6.2.1.17; 6.2.1.1; AceCS2; Acetate--CoA ligase 2; Acetyl-CoA synthetase 2; Acyl-CoA synthetase short-chain family member 1; Propionate--CoA ligase", "protein_names_refseq": "acetate--CoA ligase 2; acetyl-coenzyme A synthetase 2-like, mitochondrial isoform 2 precursor; acetyl-coenzyme A synthetase 2-like, mitochondrial; propionate--CoA ligase", "tax_id": 9606, "disease": "", "pathway": " (hsa:84532); (R-HSA-71384)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10441588;10631996;10697413;10843999;11237011;16788062;1755855;18196;19535340;19608861;1985938;20616185;224930;23481700;25576301;270680;27363021;27539851;28514659;28832583;28834231;28904123;29242379;29331515;29557506;30429286;30779550;31154438;31530632;31844290;32350084;32357974;32387766;32488085;3278908;32938616;33298915;3365377;33912179;34357683;35051231;38042218;4065146;427099;4504607;4748759;6395883;8074657;9982", "class_list": "", "function": "ACSS1 is essential for glucose-independent acetate-mediated cell survival and tumor growth., [RefSeq, PubMed]; Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids (PubMed:16788062). Acetate is the preferred substrate (PubMed:16788062). Can also utilize propionate with a much lower affinity (By similarity). Provides acetyl-CoA that is utilized mainly for oxidation under ketogenic conditions (By similarity). Involved in thermogenesis under ketogenic conditions, using acetate as a vital fuel when carbohydrate availability is insufficient (By similarity)., [UniProtKB, PubMed, UniProtKB]; Citrate synthase and ACSS1 have tumorigenic functions in hepatocellular carcinoma, [RefSeq, PubMed]; Identifying Acss1, Mtfp1 and Oxct1 as key regulators and promising biomarkers of sarcopenia in various models., [RefSeq, PubMed]; This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed 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": 0, "reported_mutagensis": 1, "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": "B3KXL2;B4DJZ3;D3DW48;F5H6F4;F8W7Y1;Q5TF42;Q8IV99;Q8N234;Q96JI1;Q96JX6;Q9NU28", "ec_number_list": [ { "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" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0016208 AMP binding;GO:0003987 acetate-CoA ligase activity;GO:0050218 propionate-CoA ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006068 ethanol catabolic process;GO:0006085 acetyl-CoA biosynthetic process;GO:0019413 acetate biosynthetic process;GO:0019427 acetyl-CoA biosynthetic process from acetate;GO:0019542 propionate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9NUB1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2S6-1", "uniprot_id": [ { "id": "ANKY1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2S6", "type": "external" } ], "mass": 105516.0, "length": 941, "protein_name": "Ankyrin repeat and MYND domain-containing protein 1", "gene_name": "ANKMY1", "organism": "Human", "refseq_name": "ankyrin repeat and MYND domain-containing protein 1 isoform 4", "refseq_ac": [ { "id": "NP_001269709", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269709", "type": "external" } ], "gene_names_uniprotkb": "ANKMY1; TSAL1; ZMYND13", "gene_names_refseq": "ANKMY1; ZMYND13", "protein_names_uniprotkb": "Ankyrin repeat and MYND domain-containing protein 1; Testis-specific ankyrin-like protein 1; Zinc finger MYND domain-containing protein 13", "protein_names_refseq": "ankyrin repeat and MYND domain-containing protein 1 isoform 4; ankyrin repeat and MYND domain-containing protein 1; testis-specific ankyrin-like protein 1; zinc finger MYND domain-containing protein 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:51281)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11230166;11237011;25576301;28228285;29557506;30379171;31844290;37217939;39894887", "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": 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": "B2RB78;Q4ZFV3;Q8IYX5;Q8NDK5;Q9H0V8;Q9NX10", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9P2S6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJX3-1", "uniprot_id": [ { "id": "APC7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJX3", "type": "external" } ], "mass": 63133.0, "length": 565, "protein_name": "Anaphase-promoting complex subunit 7", "gene_name": "ANAPC7", "organism": "Human", "refseq_name": "anaphase-promoting complex subunit 7 isoform b", "refseq_ac": [ { "id": "NP_001131136", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131136", "type": "external" } ], "gene_names_uniprotkb": "ANAPC7; APC7", "gene_names_refseq": "ANAPC7; APC7; FERBON", "protein_names_uniprotkb": "Anaphase-promoting complex subunit 7; APC7; Cyclosome subunit 7", "protein_names_refseq": "anaphase-promoting complex subunit 7 isoform b; cyclosome subunit 7", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); Ferguson-Bonni neurodevelopmental syndrome (Disease Ontology:DOID:0070677)", "pathway": " (hsa:51434); (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": 126, "publication_id_list": "10201372;10318916;10339564;10411507;10432220;10548110;10679238;10733526;10793135;10884341;10995389;11046155;11062501;11081627;11114305;11125146;11237011;11248027;11285280;11340163;11350924;11371342;11509732;11535616;11562349;11598127;11742988;11859075;11988738;12006501;12070128;12194817;12446569;12646216;12832467;14657031;14672932;14679213;14734113;14743218;15014503;15029244;15224091;15224092;15469821;15571818;15678131;15737063;15774718;16364912;16413484;16595681;16626623;16648845;16824194;16849449;16954532;17187060;17234884;17485488;18267069;18411265;18445686;18485873;18555777;18555778;18662542;19028597;19091741;19352404;19452197;19489725;19608861;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;29033132;30429286;30485802;34229054;34942119;35132862;36215666;36284347;37217939;37938771;40914422;8234276;8384717;8413215;8413306;8617720;8688489;8884985;8939459;9380723;9469815;9635433;9668046;9892021", "class_list": "", "function": "APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain., [RefSeq, PubMed]; 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). Has an enzyme-substrate adapter activity mediating the processive ubiquitination of specific substrates (PubMed:34942119). Involved in brain development through the specific ubiquitination and clearance of MKI67 from constitutive heterochromatin after neuronal progenitors exit mitosis (PubMed:34942119)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The contribution of the anaphase-promoting complex/cyclosome subunits APC7 and APC16 to APC/C composition and function in human cells., [RefSeq, PubMed]; This gene encodes a tetratricopeptide repeat containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for proper protein ubiquitination function of APC/C and for the interaction of APC/C with certain transcription coactivators. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 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": 2, "reported_glycation": 0, "reported_snv": 13, "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": "Q96AC4;Q96GF4;Q9BU24;Q9NT16", "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:0005819 spindle;GO:0005829 cytosol;GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0051301 cell division;GO:0007346 regulation of mitotic cell cycle;GO:0007420 brain development;GO:0016567 protein ubiquitination;GO:0031145 anaphase-promoting complex-dependent catabolic process", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q9UJX3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULZ1-1", "uniprot_id": [ { "id": "APEL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULZ1", "type": "external" } ], "mass": 8569.0, "length": 77, "protein_name": "Apelin", "gene_name": "APLN", "organism": "Human", "refseq_name": "apelin preproprotein", "refseq_ac": [ { "id": "NP_059109", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059109", "type": "external" } ], "gene_names_uniprotkb": "APLN; APEL", "gene_names_refseq": "APEL; APLN; XNPEP2", "protein_names_uniprotkb": "Apelin; APJ endogenous ligand", "protein_names_refseq": "AGTRL1 ligand; APJ endogenous ligand; apelin preproprotein", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); atrial fibrillation (Disease Ontology:DOID:0060224); hypertension (Disease Ontology:DOID:10763); morbid obesity (Disease Ontology:DOID:11981); coronary stenosis (Disease Ontology:DOID:4248); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:8862); (R-HSA-375276); (R-HSA-418594)", "pathway_count": 3, "publication_count": 115, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10525157;10604470;10617103;10854085;10899166;11007482;11090199;11322507;11385580;11457843;11562423;11683476;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18577758;22810587;23446738;23690594;24906252;2534964;2649896;2748346;27496565;2834384;3202875;3366244;3525564;35817871;38428423;3856870;38946382;39189510;39227683;39233464;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "(Microbial infection) Endogenous ligand for the apelin receptor (APLNR), an alternative coreceptor with CD4 for HIV-1 infection (PubMed:11090199). Inhibits HIV-1 entry in cells coexpressing CD4 and APLNR (PubMed:11090199). Apelin-36 has a greater inhibitory activity on HIV infection than other synthetic apelin derivatives (PubMed:11090199)., [UniProtKB, PubMed]; Apelin (APLN) is a biomarker contributing to the diagnosis and prognosis of hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Apelin - A New Kid on the Block in Periodontology. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Lack of association between serum apelin levels and sarcopenia in elderly malnourished subjects., [RefSeq, PubMed]; Peptide hormone that functions as endogenous ligand for the G protein-coupled apelin receptor (APLNR/APJ), that plays a role in cadiovascular homeostasis (PubMed:10525157, PubMed:22810587, PubMed:35817871, PubMed:38428423). Functions as a balanced agonist activating both G(i) protein pathway and beta-arrestin pathway of APLNR (PubMed:22810587, PubMed:38428423). Downstream G proteins activation, apelin can inhibit cAMP production and activate key intracellular effectors such as ERKs (PubMed:22810587, PubMed:35817871, PubMed:38428423). On the other hand, APLNR activation induces beta-arrestin recruitment to the membrane leading to desensitization and internalization of the receptor (PubMed:22810587, PubMed:38428423). Apelin blunts cardiac hypertrophic induction from APLNR on response to pathological stimuli, but also induces myocardial hypertrophy under normal conditions (PubMed:22810587, PubMed:38428423). Apelin-36 dissociates more hardly than (pyroglu)apelin-13 from APLNR (By similarity). Involved in the regulation of cardiac precursor cell movements during gastrulation and heart morphogenesis (By similarity). Has an inhibitory effect on cytokine production in response to T-cell receptor/CD3 cross-linking; the oral intake of apelin in the colostrum and the milk might therefore modulate immune responses in neonates (By similarity). Plays a role in early coronary blood vessels formation (By similarity). Mediates myocardial contractility in an ERK1/2-dependent manner (By similarity). May also have a role in the central control of body fluid homeostasis by influencing vasopressin release and drinking behavior (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Reciprocal Interactions Between Apelin and Noncoding RNAs in Cancer Progression. Review article, [RefSeq, PubMed]; This gene encodes a peptide that functions as an endogenous ligand for the G-protein coupled apelin receptor. The encoded preproprotein is proteolytically processed into biologically active C-terminal peptide fragments. These peptide fragments activate different tissue specific signaling pathways that regulate diverse biological functions including fluid homeostasis, cardiovascular function and insulin secretion. This protein also functions as a coreceptor for the human immunodeficiency virus 1. [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "Q4VY08;Q8WU89", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005179 hormone activity;GO:0031704 apelin receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:1905564 positive regulation of vascular endothelial cell proliferation;GO:0001525 angiogenesis;GO:0006955 immune response;GO:0007165 signal transduction;GO:0010629 negative regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q9ULZ1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPQ9-3", "uniprot_id": [ { "id": "TNR6B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPQ9", "type": "external" } ], "mass": 194002.0, "length": 1833, "protein_name": "Trinucleotide repeat-containing gene 6B protein", "gene_name": "TNRC6B", "organism": "Human", "refseq_name": "trinucleotide repeat-containing gene 6B protein isoform 3", "refseq_ac": [ { "id": "NP_001020014", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020014", "type": "external" } ], "gene_names_uniprotkb": "TNRC6B; KIAA1093", "gene_names_refseq": "GDSBA; TNRC6B", "protein_names_uniprotkb": "Trinucleotide repeat-containing gene 6B protein", "protein_names_refseq": "trinucleotide repeat containing 6B; trinucleotide repeat-containing gene 6B protein isoform 3; trinucleotide repeat-containing gene 6B protein", "tax_id": 9606, "disease": "uterine fibroid (Disease Ontology:DOID:13223); subserous uterine fibroid (Disease Ontology:DOID:13560); global developmental delay with speech and behavioral abnormalities (MONDO:MONDO:0030995)", "pathway": " (hsa:23112); (R-HSA-165159); (R-HSA-1912408); (R-HSA-2559580); (R-HSA-2559585); (R-HSA-4086398); (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-9759811); (R-HSA-9764562); (R-HSA-9768778); (R-HSA-9824594); (R-HSA-9839394); (R-HSA-9909620)", "pathway_count": 25, "publication_count": 600, "publication_id_list": 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"class_list": "", "function": "FOXA1-induced LINC01207 facilitates head and neck squamous cell carcinoma via up-regulation of TNRC6B., [RefSeq, PubMed]; Impact of scaffolding protein TNRC6 paralogs on gene expression and splicing., [RefSeq, PubMed]; Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, cafe-au-lait spots, and metabolic abnormality., [RefSeq, PubMed]; Plays a role in RNA-mediated gene silencing by both micro-RNAs (miRNAs) and short interfering RNAs (siRNAs) (PubMed:16289642, PubMed:19167051, PubMed:19304925, PubMed:32354837). Required for miRNA-dependent translational repression and siRNA-dependent endonucleolytic cleavage of complementary mRNAs by argonaute family proteins (PubMed:16289642, PubMed:19167051, PubMed:19304925, PubMed:32354837). As scaffolding protein associates with argonaute proteins bound to partially complementary mRNAs and simultaneously can recruit CCR4-NOT and PAN deadenylase complexes (PubMed:21981923)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, 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": 3, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 74, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 3, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "B0QY73;B0QY78;B4DGC0;Q5TH52;Q8TBX2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000932 P-body", "go_biological_process": "GO:0035196 miRNA processing;GO:0035278 miRNA-mediated gene silencing by inhibition of translation;GO:0031047 regulatory ncRNA-mediated gene silencing;GO:0060213 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening;GO:1900153 positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay", "synthesized_glycan_count": 0, "hit_score": 61.6, "record_id": "Q9UPQ9-3", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y243-1", "uniprot_id": [ { "id": "AKT3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y243", "type": "external" } ], "mass": 55775.0, "length": 479, "protein_name": "RAC-gamma serine/threonine-protein kinase", "gene_name": "AKT3", "organism": "Human", "refseq_name": "RAC-gamma serine/threonine-protein kinase isoform 2", "refseq_ac": [ { "id": "NP_001193658", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193658", "type": "external" } ], "gene_names_uniprotkb": "AKT3; PKBG", "gene_names_refseq": "AKT3; MPPH2; MPPH; PKB-GAMMA; PKBG; PRKBG; RAC-PK-gamma; RAC-gamma; STK-2", "protein_names_uniprotkb": "RAC-gamma serine/threonine-protein kinase; 2.7.11.1; PKB gamma; Protein kinase Akt-3; Protein kinase B gamma; RAC-PK-gamma; STK-2", "protein_names_refseq": "PKB gamma; RAC-gamma serine/threonine protein kinase; RAC-gamma serine/threonine-protein kinase isoform 2; v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma)", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); cancer (Disease Ontology:DOID:162); colon cancer (Disease Ontology:DOID:219); prostate adenocarcinoma (Disease Ontology:DOID:2526); carcinoma (Disease Ontology:DOID:305); glioblastoma (Disease Ontology:DOID:3068); malignant astrocytoma (Disease Ontology:DOID:3069); lung non-small cell carcinoma (Disease Ontology:DOID:3908); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); renal cell carcinoma (Disease Ontology:DOID:4450); schizophrenia (Disease Ontology:DOID:5419); type 2 diabetes mellitus (Disease Ontology:DOID:9352); megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MONDO:MONDO:0014407)", "pathway": " (hsa:10000); (R-HSA-111447); (R-HSA-1257604); (R-HSA-1358803); (R-HSA-165159); (R-HSA-165181); (R-HSA-198323); (R-HSA-198693); (R-HSA-199418); (R-HSA-211163); (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-9856649)", "pathway_count": 30, "publication_count": 656, "publication_id_list": 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"class_list": "", "function": "A spectrum of AKT3 activating mutations cause focal malformations of cortical development (FMCDs) in cortical organoids., [RefSeq, PubMed]; AKT3 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. This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported. AKT3 is the least studied AKT isoform. It plays an important role in brain development and is crucial for the viability of malignant glioma cells. AKT3 isoform may also be the key molecule in up-regulation and down-regulation of MMP13 via IL13. Required for the coordination of mitochondrial biogenesis with growth factor-induced increases in cellular energy demands. Down-regulation by RNA interference reduces the expression of the phosphorylated form of BAD, resulting in the induction of caspase-dependent apoptosis., [UniProtKB, PubMed, PubMed]; Autocrine Regulation of Interleukin-6 via the Activation of STAT3 and Akt in Cardiac Myxoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Differential prognostic values of the three AKT isoforms in acute myeloid leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 15, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q0VAA6;Q5VTI1;Q5VTI2;Q96QV3;Q9UFP5", "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": "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": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "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": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "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": "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:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0005737 cytoplasm", "go_biological_process": "GO:1905564 positive regulation of vascular endothelial cell proliferation;GO:0007165 signal transduction;GO:0035556 intracellular signal transduction;GO:0043066 negative regulation of apoptotic process;GO:0045766 positive regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 65.9, "record_id": "Q9Y243-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NCL7-1", "uniprot_id": [ { "id": "AN33B_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NCL7", "type": "external" } ], "mass": 53975.0, "length": 494, "protein_name": "Ankyrin repeat domain-containing protein 33B", "gene_name": "ANKRD33B", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 33B", "refseq_ac": [ { "id": "NP_001157912", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157912", "type": "external" } ], "gene_names_uniprotkb": "ANKRD33B", "gene_names_refseq": "ANKRD33B", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 33B", "protein_names_refseq": "Ankyrin repeat domain-containing protein LOC651746; ankyrin repeat domain-containing protein 33B", "tax_id": 9606, "disease": "", "pathway": " (hsa:651746)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;22645359;24029068;25502872;26154972;26992070;28218747;28832583;29242379;29314611;29437277;29557506;29632046;30315122;30379171;30410026;30573663;31844290;31998317;32157095;32350084;32983136;33592498;33633747;33936100;33968037;34357683;34433824;34561969;35051231;35154160;36010968;36215666", "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": 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_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "A6NCL7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NHY2-1", "uniprot_id": [ { "id": "AKD1B_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NHY2", "type": "external" } ], "mass": 59088.0, "length": 528, "protein_name": "Ankyrin repeat and death domain-containing protein 1B", "gene_name": "ANKDD1B", "organism": "Human", "refseq_name": "ankyrin repeat and death domain-containing protein 1B", "refseq_ac": [ { "id": "NP_001263642", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263642", "type": "external" } ], "gene_names_uniprotkb": "ANKDD1B", "gene_names_refseq": "ANKDD1B", "protein_names_uniprotkb": "Ankyrin repeat and death domain-containing protein 1B", "protein_names_refseq": "ankyrin repeat and death domain-containing protein 1B; ankyrin repeat and death domain-containing protein ENSP00000345065", "tax_id": 9606, "disease": "", "pathway": " (hsa:728780)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;23481700;29557506;32488085;32938616;34669083;35051231;35580925;37217939;39894887", "class_list": "", "function": "Risk of migraine contributed by genetic polymorphisms of ANKDD1B gene: a case-control study based on Chinese Han population., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "A6NHY2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P1M9-1", "uniprot_id": [ { "id": "ARMX5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P1M9", "type": "external" } ], "mass": 62346.0, "length": 558, "protein_name": "Armadillo repeat-containing X-linked protein 5", "gene_name": "ARMCX5", "organism": "Human", "refseq_name": "armadillo repeat-containing X-linked protein 5", "refseq_ac": [ { "id": "NP_001161950", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161950", "type": "external" } ], "gene_names_uniprotkb": "ARMCX5", "gene_names_refseq": "ARMCX5; GASP5", "protein_names_uniprotkb": "Armadillo repeat-containing X-linked protein 5", "protein_names_refseq": "armadillo repeat-containing X-linked protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:64860)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;23481700;26992070;27600516;28228285;28832583;29242379;29351928;29557506;30315122;31092671;31154438;31844290;31848261;31998317;32387766;32502341;32897882;32938616;33091337;33968037;34171305;34357683;34509645;34932366;35051231;35580925;36010968;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": 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": 8, "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": "B3KU88;D3DX99;Q68DB4;Q9BVZ3;Q9H969", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q6P1M9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJW9-1", "uniprot_id": [ { "id": "SRTD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJW9", "type": "external" } ], "mass": 21769.0, "length": 196, "protein_name": "SERTA domain-containing protein 3", "gene_name": "SERTAD3", "organism": "Human", "refseq_name": "SERTA domain-containing protein 3", "refseq_ac": [ { "id": "NP_037500", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037500", "type": "external" } ], "gene_names_uniprotkb": "SERTAD3; RBT1", "gene_names_refseq": "RBT1; SERTAD3", "protein_names_uniprotkb": "SERTA domain-containing protein 3; RPA-binding trans-activator; Replication protein-binding trans-activator", "protein_names_refseq": "RPA-binding trans-activator; SERTA domain-containing protein 3; replication protein-binding trans-activator", "tax_id": 9606, "disease": "", "pathway": " (hsa:29946)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "10982866;11237011;17260023;24714562;25576301;28063628;28514659;28832583;29242379;29393594;29557506;29632046;30315122;30429286;30779550;30833945;31530632;31844290;31998317;32387766;32938616;32983136;33147462;33968037;33981976;34932366;35051231;36010968;36284347;36594413", "class_list": "", "function": "Antiviral interferon-stimulated protein that plays a role in innate immunity and in the suppression of viruses through different mechanisms (PubMed:33147462, PubMed:36594413). Plays a role in the late phase response of TLR-induced immune effector expression (By similarity). During influenza infection, interacts with PB2, PB1, and PA to disrupt the formation of the viral RdRp complex (PubMed:33147462). Inhibits zika virus by interacting with the capsid protein in the nucleolus and reducing its abundance through proteasomal degradation (PubMed:36594413). Strong transcriptional coactivator (PubMed:10982866)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; The protein encoded by this gene was identified in a yeast two-hybrid assay employing the second subunit of human replication protein A as bait. It is localized to the nucleus and its expression is significantly higher in cancer cell lines compared to normal cell lines. This protein has also been shown to be a strong transcriptional co-activator. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; Transduction of stably expressed human SERTAD3 induces cell transformation in vitro and tumor formation in mice via a transcription factor E2F-dependent mechanism., [RefSeq, PubMed]; Type-IInterferon-Inducible SERTAD3 Inhibits Influenza A Virus Replication by Blocking the Assembly of Viral RNA Polymerase Complex., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B3KQB3;Q96CQ2", "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;GO:0045893 positive regulation of DNA-templated transcription;GO:0030308 negative regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9UJW9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYU1-1", "uniprot_id": [ { "id": "UGGG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYU1", "type": "external" } ], "mass": 174735.0, "length": 1516, "protein_name": "UDP-glucose:glycoprotein glucosyltransferase 2", "gene_name": "UGGT2", "organism": "Human", "refseq_name": "UDP-glucose:glycoprotein glucosyltransferase 2 precursor", "refseq_ac": [ { "id": "NP_064506", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064506", "type": "external" } ], "gene_names_uniprotkb": "UGGT2; UGCGL2; UGT2", "gene_names_refseq": "HUGT2; UGCGL2; UGGT2; UGT2", "protein_names_uniprotkb": "UDP-glucose:glycoprotein glucosyltransferase 2; 2.4.1.-; UDP--Glc:glycoprotein glucosyltransferase 2; UDP-glucose ceramide glucosyltransferase-like 1; UGT2; hUGT2", "protein_names_refseq": "UDP-Glc:glycoprotein glucosyltransferase 2; UDP-glucose ceramide glucosyltransferase-like 1; UDP-glucose ceramide glucosyltransferase-like 2; UDP-glucose:glycoprotein glucosyltransferase 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:55757); (R-HSA-901032)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "10.1101/2023.09.13.557529;10409699;10694380;11237011;12913004;15713668;16431915;18003979;18264092;18417469;18426978;19084021;19690332;20068231;22424782;22706990;22898188;23232094;23349634;23481700;24415556;24714562;24715725;25092655;25576301;25645385;26024233;26154972;26992070;27496766;27600516;27846572;27862975;27920218;28218747;28228285;28686597;28832583;28834231;28904123;29242379;29437277;29485866;29557506;29632046;29741879;29769354;29786170;30315122;30410026;30429286;30484775;30779550;31217245;31324691;31611695;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33320095;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34171305;34185709;34211107;34405274;34509645;34932366;35051231;35154160;35251023;35580925;36010968;36241641;36284347;37074911;37938771;38665916;41018975;41350704", "class_list": "glycogene;glycosyltransferase", "function": "HUGT2 cannot activate the catalytic domain of UDP-glucose: glycoprotein glucosyltransferase I, [RefSeq, PubMed]; In this study, we aimed to clarify the contribution of the noncatalytic domains by comparing activities of truncated forms of recombinant HUGT1/HUGT2 and HUGT1/HUGT2 chimeras with full-length enzymes., [RefSeq, PubMed]; Quantitative glycoproteomics reveals cellular substrate selectivity of the ER protein quality control sensors UGGT1 and UGGT2. Publication Status: Online-Only, [RefSeq, PubMed]; Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized by calreticulin for recycling to the endoplasmic reticulum and refolding or degradation., [UniProtKB, PubMed]; The glucosyltransferase activity of UGGT2 has been lacking, leaving it unclear as to whether it has any function in the glycoprotein folding process., [RefSeq, PubMed]; UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]., [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": 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": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1905, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A6NKL4;Q08AD0;Q5JQR8;Q8N5K0;Q9UFC4", "ec_number_list": [ { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0003980 UDP-glucose:glycoprotein glucosyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0044322 endoplasmic reticulum quality control compartment;GO:0005793 endoplasmic reticulum-Golgi intermediate compartment;GO:0032991 protein-containing complex", "go_biological_process": "GO:0009101 glycoprotein biosynthetic process;GO:1904380 endoplasmic reticulum mannose trimming", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q9NYU1-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000010001.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15633-1", "uniprot_id": [ { "id": "TRBP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15633", "type": "external" } ], "mass": 39039.0, "length": 366, "protein_name": "RISC-loading complex subunit TARBP2", "gene_name": "TARBP2", "organism": "Human", "refseq_name": "RISC-loading complex subunit TARBP2 isoform b", "refseq_ac": [ { "id": "NP_004169", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004169", "type": "external" } ], "gene_names_uniprotkb": "TARBP2; TRBP", "gene_names_refseq": "LOQS; TARBP2; TRBP1; TRBP2; TRBP", "protein_names_uniprotkb": "RISC-loading complex subunit TARBP2; TAR RNA-binding protein 2; Trans-activation-responsive RNA-binding protein", "protein_names_refseq": "RISC-loading complex subunit TARBP2 isoform b; RISC-loading complex subunit TARBP2; TAR (HIV) RNA-binding protein 2; TAR (HIV) RNA-binding protein TRBP1; TAR (HIV-1) RNA binding protein 2; TAR RNA binding protein 2; TARBP2, RISC loading complex RNA binding subunit; trans-activation responsive RNA-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:6895); (R-HSA-203927); (R-HSA-426486); (R-HSA-9833482)", "pathway_count": 4, "publication_count": 223, "publication_id_list": "10082513;10348343;10400669;10620360;10626894;10648614;10848580;10866685;11096080;11134010;11152499;11156368;11201747;11237011;11238103;11238927;11278865;11313968;11337501;11350938;11438532;11438540;11452083;11500375;11641396;11781817;11909525;11939789;11985496;12231563;12397061;12411504;12411505;12475984;12882984;1373135;14508493;14585331;14631048;14681208;14730017;15229216;15284456;15299030;15364901;15372072;15525708;15531877;15574589;15737233;15752359;15907845;15973356;16142218;16179258;16179259;16271386;16271387;16357216;16373505;16424907;16431927;16600570;16717090;1695551;16982605;17057362;17079286;17099701;17196820;17452327;17507929;17531811;17932509;18096616;18178619;18421256;18669648;18728384;18782830;18835251;18842624;18957415;19219043;19229320;19401777;19416861;19710021;19733181;19804757;19838063;19966796;2011739;20184375;20395957;20519500;20685959;20972213;21072047;21123651;21228243;21294215;21518807;21552258;21636578;21726814;21937648;21978664;21994559;22106413;22163034;22214662;2247437;22844086;22986343;23063121;23063653;23084476;23229543;23251028;23301498;23511973;23531496;23624860;23658827;23661684;23732991;24275569;24347309;24623135;24659800;24753571;25326327;25568082;25653431;25793518;25848059;26432638;26446704;26488609;26582366;26716879;26817845;27208315;27269119;27423063;27974558;28069888;28167698;28228285;28281686;28765891;28834231;28904123;29170442;29175459;29231267;29242379;29348664;29394925;29395325;29440070;29493099;29501855;29540527;30174290;30315122;30524438;30626973;30770398;30927622;31031002;31217245;31844290;32093270;32157095;32387766;32716602;32801355;32897882;32938616;33717175;33808629;33911136;33968037;33981976;34087483;34174402;34974812;35008634;35318648;35561310;35580925;35685460;35947956;36010968;36712380;37127961;38636948;39894887;7491766;7515177;7545299;7565688;7693978;7737357;7774957;7903669;8455607;8576172;8576179;8661426;8810342;8910500;9034343;9079663;9442054;9521856;9528799;9687506;9737981;9819388;9920933", "class_list": "", "function": "(Microbial infection) Binds to the HIV-1 TAR RNA which is located in the long terminal repeat (LTR) of HIV-1, and stimulates translation of TAR-containing RNAs (PubMed:11438532, PubMed:12475984, PubMed:2011739). This is achieved in part at least by binding to and inhibiting EIF2AK2/PKR, thereby reducing phosphorylation and inhibition of EIF2S1/eIF-2-alpha (PubMed:11438532). May also promote translation of TAR-containing RNAs independently of EIF2AK2/PKR (PubMed:12475984). Mediates recruitment of FTSJ3 methyltransferase to HIV-1 RNA, leading to 2'-O-methylation of the viral genome, allowing HIV-1 to escape the innate immune system (PubMed:30626973)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Caspase-mediated processing of TRBP regulates apoptosis during viral infection., [RefSeq, PubMed]; HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene binds between the bulge and the loop of the HIV-1 TAR RNA regulatory element and activates HIV-1 gene expression in synergy with the viral Tat protein. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene also has a pseudogene. [provided by RefSeq, Jul 2008]., [RefSeq]; Required for formation of the RNA induced silencing complex (RISC). Component of the RISC loading complex (RLC), also known as the micro-RNA (miRNA) loading complex (miRLC), which is composed of DICER1, AGO2 and TARBP2. Within the RLC/miRLC, DICER1 and TARBP2 are required to process precursor miRNAs (pre-miRNAs) to mature miRNAs and then load them onto AGO2. AGO2 bound to the mature miRNA constitutes the minimal RISC and may subsequently dissociate from DICER1 and TARBP2. May also play a role in the production of short interfering RNAs (siRNAs) from double-stranded RNA (dsRNA) by DICER1 (By similarity) (PubMed:15973356, PubMed:16142218, PubMed:16271387, PubMed:16357216, PubMed:16424907, PubMed:17452327, PubMed:18178619). Binds in vitro to the PRM1 3'-UTR (By similarity). Seems to act as a repressor of translation (By similarity). For some pre-miRNA substrates, may also alter the choice of cleavage site by DICER1 (PubMed:23063653). Negatively regulates IRF7-mediated IFN-beta signaling triggered by viral infection by inhibiting the phosphorylation of IRF7 and promoting its 'Lys'-48-linked ubiquitination and degradation (PubMed:30927622)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, HAMAP, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; TARBP2 Suppresses Ubiquitin-Proteasomal Degradation of HIF-1alpha in Breast Cancer. 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q12878;Q8WY32;Q8WY33;Q9BRY2", "ec_number_list": [], "go_molecular_function": "GO:0036002 pre-mRNA binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0003725 double-stranded RNA binding", "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:0050689 negative regulation of defense response to virus by host;GO:0070922 RISC complex assembly;GO:0006417 regulation of translation;GO:0006469 negative regulation of protein kinase activity;GO:0031054 pre-miRNA processing", "synthesized_glycan_count": 0, "hit_score": 22.6, "record_id": "Q15633-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58549-1", "uniprot_id": [ { "id": "FXYD7_HUMAN", "url": "https://www.uniprot.org/uniprot/P58549", "type": "external" } ], "mass": 8524.0, "length": 80, "protein_name": "FXYD domain-containing ion transport regulator 7", "gene_name": "FXYD7", "organism": "Human", "refseq_name": "FXYD domain-containing ion transport regulator 7", "refseq_ac": [ { "id": "NP_071289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071289", "type": "external" } ], "gene_names_uniprotkb": "FXYD7", "gene_names_refseq": "FXYD7", "protein_names_uniprotkb": "FXYD domain-containing ion transport regulator 7", "protein_names_refseq": "FXYD domain-containing ion transport regulator 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:53822); (R-HSA-5578775); (R-HSA-936837); (R-HSA-9679191)", "pathway_count": 4, "publication_count": 90, "publication_id_list": "10087012;10220561;10401004;10484781;10615129;10767338;10913253;11062458;11237011;11904675;12119109;12832055;12953268;15174025;15260953;15598648;15754088;15831496;15919184;15925480;16115318;16182249;16522641;1656976;16700898;16754674;1693919;17224452;17357072;17486119;17662961;18723824;18995841;19278978;19345671;19751721;19878721;19913121;20223979;20388710;20628086;21108950;2160952;22186024;22210847;2226863;22401777;22427649;22535957;22552008;22707725;22814904;22972900;23196729;23362265;23549614;23610579;23641311;24272870;2430951;24392018;24584101;2477373;2559024;25801024;25994790;26002965;27067231;2838329;28425720;28645727;2953725;29945920;30201761;31048504;33231612;6328127;6832622;7626145;7702581;7929371;8045293;8298639;8490646;8490659;8798450;8918259;9147644;9307043;9346285", "class_list": "", "function": "Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane (PubMed:33231612). Reduces the apparent affinity for external K(+), an effect that depends on the presence of external Na(+) and voltage (PubMed:33231612). Increases the apparent affinity for intracellular Na(+) (PubMed:33231612)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Intracellular trafficking of FXYD1 (phospholemman) and FXYD7 proteins in Xenopus oocytes and mammalian 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]; This reference sequence was derived from multiple replicate ESTs and validated by similar human genomic sequence. This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. This gene product, FXYD7, is novel and has not been characterized as a protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Dec 2000]., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0051117 ATPase binding;GO:0017080 sodium channel regulator activity;GO:0099106 ion channel regulator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006883 intracellular sodium ion homeostasis;GO:0010248 establishment or maintenance of transmembrane electrochemical gradient;GO:0030007 intracellular potassium ion homeostasis;GO:0036376 sodium ion export across plasma membrane;GO:1903278 positive regulation of sodium ion export across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "P58549-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRS6-1", "uniprot_id": [ { "id": "SNX15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRS6", "type": "external" } ], "mass": 38291.0, "length": 342, "protein_name": "Sorting nexin-15", "gene_name": "SNX15", "organism": "Human", "refseq_name": "sorting nexin-15 isoform A", "refseq_ac": [ { "id": "NP_037438", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037438", "type": "external" } ], "gene_names_uniprotkb": "SNX15", "gene_names_refseq": "HSAF001435; SNX15", "protein_names_uniprotkb": "Sorting nexin-15", "protein_names_refseq": "clone iota unknown protein; sorting nexin-15 isoform A", "tax_id": 9606, "disease": "", "pathway": " (hsa:29907)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11085978;11237011;18669648;19651622;19690332;20068231;20843780;23481700;24275569;24366607;25576301;25892735;26154972;26811146;26992070;27846572;27920218;28832583;28834231;28855257;29242379;29393594;29493099;29557506;29632046;30315122;30429286;31844290;32157095;32350084;32938616;33141586;33298915;33968037;33981976;34171305;34211107;35051231;35580925;36241641;36284347", "class_list": "", "function": "May be involved in several stages of intracellular trafficking. Overexpression of SNX15 disrupts the normal trafficking of proteins from the plasma membrane to recycling endosomes or the TGN., [UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Overexpression of this gene results in a decrease in the processing of insulin and hepatocyte growth factor receptors to their mature subunits. This decrease is caused by the mislocalization of furin, the endoprotease responsible for cleavage of insulin and hepatocyte growth factor receptors. This protein is involved in endosomal trafficking from the plasma membrane to recycling endosomes or the trans-Golgi network. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ADP-ribosylation factor-like 2 (ARL2) 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "E5KQS6;Q9NRS5", "ec_number_list": [], "go_molecular_function": "GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9NRS6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59797-1", "uniprot_id": [ { "id": "SELV_HUMAN", "url": "https://www.uniprot.org/uniprot/P59797", "type": "external" } ], "mass": 36800.0, "length": 346, "protein_name": "Selenoprotein V", "gene_name": "SELENOV", "organism": "Human", "refseq_name": "selenoprotein V isoform 1", "refseq_ac": [ { "id": "NP_874363", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_874363", "type": "external" } ], "gene_names_uniprotkb": "SELENOV; SELV", "gene_names_refseq": "SELENOV; SELV", "protein_names_uniprotkb": "Selenoprotein V; SelV", "protein_names_refseq": "selenoprotein V isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:348303)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;12775843;26138980;27645994;29989584;31844290;32387766;35051231;35580925", "class_list": "", "function": "May be involved in a redox-related process., [UniProtKB]; The SS concentrations that lead to a decrease in the viability of human prostate adenocarcinoma cells (line Du-145) have been selected, and the effect of sodium selenite on the expression of mRNA of the SELV, SELW, and TGR selenocysteine proteins in these cells has been analyzed., [RefSeq, PubMed]; This gene encodes a selenoprotein containing a selenocysteine (Sec) residue, which is encoded by the UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is specifically expressed in the testis. It belongs to the SelWTH family, which possesses a thioredoxin-like fold and a conserved CxxU (C is cysteine, U is Sec) motif, suggesting a redox function for this gene. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2017]., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q17RG5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "P59797-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BV19-1", "uniprot_id": [ { "id": "CA050_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BV19", "type": "external" } ], "mass": 21877.0, "length": 199, "protein_name": "Uncharacterized protein C1orf50", "gene_name": "C1orf50", "organism": "Human", "refseq_name": "uncharacterized protein C1orf50", "refseq_ac": [ { "id": "NP_077002", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077002", "type": "external" } ], "gene_names_uniprotkb": "C1orf50", "gene_names_refseq": "C1orf50", "protein_names_uniprotkb": "Uncharacterized protein C1orf50", "protein_names_refseq": "uncharacterized protein C1orf50", "tax_id": 9606, "disease": "", "pathway": " (hsa:79078)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;23301498;23481700;26992070;27846572;28832583;28904123;29242379;29393594;30315122;30779550;31217245;31844290;32157095;32350084;32357974;32387766;32938616;32938750;33298915;33592498;33912179;33936100;33968037;33981976;34087483;35561310;35580925;36284347;38665916", "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": 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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9BV19-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQ24-1", "uniprot_id": [ { "id": "ZFY21_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQ24", "type": "external" } ], "mass": 26506.0, "length": 234, "protein_name": "Zinc finger FYVE domain-containing protein 21", "gene_name": "ZFYVE21", "organism": "Human", "refseq_name": "zinc finger FYVE domain-containing protein 21 isoform 1", "refseq_ac": [ { "id": "NP_001185882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185882", "type": "external" } ], "gene_names_uniprotkb": "ZFYVE21", "gene_names_refseq": "HCVP7TP1; ZF21; ZFYVE21", "protein_names_uniprotkb": "Zinc finger FYVE domain-containing protein 21; ZF21", "protein_names_refseq": "FYVE domain containing 21; HCV p7-transactivated protein 1; zinc finger FYVE domain-containing protein 21 isoform 1; zinc finger FYVE domain-containing protein 21; zinc finger, FYVE domain containing 21", "tax_id": 9606, "disease": "", "pathway": " (hsa:79038)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;19773279;20439989;20601096;20890123;21768110;26992070;27920218;28467828;28832583;28834231;29242379;29331515;29557506;30429286;30779550;31113953;31154438;31844290;31848261;32157095;32161166;32350084;33592498;33968037;34087483;34932366;35154160;35318648;35580925;36240223;38797325;40596516", "class_list": "", "function": "Observational study and meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in cell adhesion, and thereby in cell motility which requires repeated formation and disassembly of focal adhesions. Regulates microtubule-induced PTK2/FAK1 dephosphorylation, an event important for focal adhesion disassembly, as well as integrin beta-1/ITGB1 cell surface expression., [UniProtKB, PubMed, PubMed]; ZF21 is a new regulator of focal adhesion disassembly and a potential member of the spreading initiation center. We identified 45 proteins including FA-related proteins and multiple RNA binding proteins, [RefSeq, PubMed]; ZFYVE21 is identified as a posttranslationally induced Rab5 effector that triggers phosphoinositide remodeling of early endosome membranes to mediate non-canonical NF-kappaB signal activation and tissue inflammation. Publication Status: Online-Only, [RefSeq, PubMed]; ZFYVE21 promotes endothelial nitric oxide signaling and vascular barrier function in the kidney during aging., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K3A4;Q86T05;Q96LT1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005768 endosome;GO:0005925 focal adhesion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9BQ24-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13268-1", "uniprot_id": [ { "id": "DHRS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13268", "type": "external" } ], "mass": 29927.0, "length": 280, "protein_name": "Dehydrogenase/reductase SDR family member 2, mitochondrial", "gene_name": "DHRS2", "organism": "Human", "refseq_name": "dehydrogenase/reductase SDR family member 2, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_005785", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005785", "type": "external" } ], "gene_names_uniprotkb": "DHRS2; SDR25C1", "gene_names_refseq": "DHRS2; HEP27; SDR25C1", "protein_names_uniprotkb": "Dehydrogenase/reductase SDR family member 2, mitochondrial; 1.1.1.-; Dicarbonyl reductase HEP27; Protein D; Protein SDR25C1; Short chain dehydrogenase/reductase family 25C member 1", "protein_names_refseq": "dehydrogenase/reductase (SDR family) member 2; dehydrogenase/reductase SDR family member 2, mitochondrial isoform 2; dehydrogenase/reductase SDR family member 2, mitochondrial; dehydrogenase/reductase member 2; dicarbonyl reductase HEP27; protein D; short chain dehydrogenase/reductase family 25C member 1; short-chain alcohol dehydrogenase family member", "tax_id": 9606, "disease": "", "pathway": " (hsa:10202)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;11944995;11997086;16685466;16959974;1847869;19027726;20547751;25645385;27600516;29106393;31217245;31530632;31611695;32157095;32586085;32938616;32983136;33141586;33298915;33912179;34725712;35051231;36192391;37060745;37119764;7556196", "class_list": "", "function": "Complete genomic organization of DHRS2, including two alternative promoter regions: a hepatocyte-specific promoter and a monocyte-derived dendritic cell-specific promoter, [RefSeq, PubMed]; DHRS2 inhibits cell growth and metastasis in ovarian cancer by downregulation of CHKalpha to disrupt choline metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; Epigenetic regulation of DHRS2 by SUV420H2 inhibits cell apoptosis in renal cell carcinoma., [RefSeq, PubMed]; Hep27 a cell-cycle regulated protein belongs to the SDR family (short-chain dehydrogenase/reductase family)., [RefSeq, PubMed]; LEF1 Induces DHRS2 Gene Expression in Human Acute Leukemia Jurkat T-Cells, [RefSeq, PubMed]; Molecular cloning, sequence and Chr 14 localization of the DHRS2 gene. Nuclear and cytoplasmic localization and normal tissue distribution of the DHRS2-encoded Hep27 protein., [RefSeq, PubMed]; NADPH-dependent oxidoreductase which catalyzes the reduction of dicarbonyl compounds. Displays reductase activity in vitro with 3,4-hexanedione, 2,3-heptanedione and 1-phenyl-1,2-propanedione as substrates (PubMed:16685466). May function as a dicarbonyl reductase in the enzymatic inactivation of reactive carbonyls involved in covalent modification of cellular components (PubMed:16685466). Also displays a minor hydroxysteroid dehydrogenase activity toward bile acids such as ursodeoxycholic acid (UDCA) and isoursodeoxycholic acid (isoUDCA), which makes it unlikely to control hormone levels (PubMed:16685466). Doesn't show any activity in vitro with retinoids and sugars as substrates (PubMed:16685466). Attenuates MDM2-mediated p53/TP53 degradation, leading to p53/TP53 stabilization and increased transcription activity, resulting in the accumulation of MDM2 and CDKN1A/p21 (PubMed:20547751). Reduces proliferation, migration and invasion of cancer cells and well as the production of ROS in cancer (PubMed:29106393)., [UniProtKB, PubMed, PubMed, PubMed]; Regulatory mechanism of DHRS2-modified human umbilical cord mesenchymal stem cells-derived exosomes in prostate cancer cell proliferation and apoptosis., [RefSeq, PubMed]; The synthesis of the nuclear protein D (Hep27 protein old name) is up-regulated in growth-inhibited HepG2 cells and is inhibited during DNA synthesis., [RefSeq, PubMed]; This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members of this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. Alternative promoter use and alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 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": 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": "D3DS54;Q53GS4;Q7Z789;Q9H2R2", "ec_number_list": [], "go_molecular_function": "GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;GO:0004090 carbonyl reductase (NADPH) activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0009636 response to toxic substance;GO:0034599 cellular response to oxidative stress;GO:0008207 C21-steroid hormone metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q13268-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5W9-1", "uniprot_id": [ { "id": "SNX11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5W9", "type": "external" } ], "mass": 30433.0, "length": 270, "protein_name": "Sorting nexin-11", "gene_name": "SNX11", "organism": "Human", "refseq_name": "sorting nexin-11 isoform 2", "refseq_ac": [ { "id": "NP_001317249", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317249", "type": "external" } ], "gene_names_uniprotkb": "SNX11", "gene_names_refseq": "SNX11", "protein_names_uniprotkb": "Sorting nexin-11", "protein_names_refseq": "sorting nexin-11 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:29916)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "11237011;11485546;23481700;23615901;24714562;24715725;25576301;26154972;26818531;26992070;27397612;27846572;27920218;28228285;28832583;28834231;29242379;29393594;29508533;29557506;29632711;29769354;30315122;30429286;31154438;31215001;31217245;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32502341;32561432;32938616;32983136;33141586;33298915;33392160;33717175;33912179;33936100;33968037;34211107;34433824;34509645;34932366;35051231;35154160;35251023;35318648;35580925;36284347;36581221;37938771", "class_list": "", "function": "Molecular Basis for PI(3,5)P2 Recognition by SNX11, a Protein Involved in Lysosomal Degradation and Endosome Homeostasis Regulation., [RefSeq, PubMed]; Penetration of Severe fever with thrombocytopenia syndrome virus from the endolysosomes into the cytoplasm of host cells was blocked in the cells lacking SNX11, [RefSeq, PubMed]; Phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes (PubMed:23615901). Regulates the levels of TRPV3 by promoting its trafficking from the cell membrane to lysosome for degradation (PubMed:26818531)., [UniProtKB, PubMed, PubMed]; Structure of sorting nexin 11 (SNX11) reveals a novel extended phox homology (PX) domain critical for inhibition of SNX10-induced vacuolation., [RefSeq, PubMed]; This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene encodes a protein of unknown function. This gene results in two transcript variants differing in the 5' UTR, but 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": 0, "reported_mutagensis": 2, "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": "B3KRL6;B4DPY5;D3DTV0;Q53YC0;Q9H885", "ec_number_list": [], "go_molecular_function": "GO:1901981 phosphatidylinositol phosphate binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005886 plasma membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016050 vesicle organization", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9Y5W9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56282-1", "uniprot_id": [ { "id": "DPOE2_HUMAN", "url": "https://www.uniprot.org/uniprot/P56282", "type": "external" } ], "mass": 59537.0, "length": 527, "protein_name": "DNA polymerase epsilon subunit 2", "gene_name": "POLE2", "organism": "Human", "refseq_name": "DNA polymerase epsilon subunit 2 isoform 2", "refseq_ac": [ { "id": "NP_001184259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184259", "type": "external" } ], "gene_names_uniprotkb": "POLE2; DPE2", "gene_names_refseq": "DPE2; POLE2", "protein_names_uniprotkb": "DNA polymerase epsilon subunit 2; DNA polymerase II subunit 2; DNA polymerase epsilon subunit B", "protein_names_refseq": "DNA polymerase II subunit 2; DNA polymerase epsilon subunit 2 isoform 2; DNA polymerase epsilon subunit 2; DNA polymerase epsilon subunit B; polymerase (DNA directed), epsilon 2 (p59 subunit); polymerase (DNA directed), epsilon 2, accessory subunit; polymerase (DNA) epsilon 2, accessory subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:5427); (R-HSA-110314); (R-HSA-5651801); (R-HSA-5656169); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5696397); (R-HSA-5696400); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-68952); (R-HSA-68962)", "pathway_count": 12, "publication_count": 128, "publication_id_list": "10373557;10460157;10518787;10523313;10559261;10744741;10757793;10801132;10801849;10846177;10856253;10882098;10959839;10984059;11006276;11095689;11125146;11237011;11250913;11433027;11601988;11687589;11698410;12045100;12200445;12226657;12444249;14517266;15199127;15590680;15916957;16246722;16337601;16464020;16531995;17000769;17043239;17466625;17466626;17720710;17948053;18079701;18342608;19074197;19153606;19223468;19279666;19413330;19940136;19941829;20129063;20227374;21143968;21282463;21628590;22081108;22700975;22859295;22952233;23000965;23143872;23593430;23686288;23731732;24366607;24402227;24449906;24485656;24715725;24768535;25231993;25576301;25892735;26154972;26992070;27846572;27920218;28218747;28228285;28514659;28649982;28832583;28904123;29242379;29437277;29769354;30315122;30779550;31844290;31998317;32161166;32387766;32488085;32502341;32938616;33141586;33298915;33717175;33912179;33936100;33968037;34509645;34694004;34700328;34932366;35051231;35580925;36581221;38070189;38079056;38253038;38963027;40596516;6094569;6693436;7700386;8078911;8658138;8751446;9214649;9405441;9443964;9649448;9660782;9699634;9716411;9780000;9875289", "class_list": "", "function": "Accessory component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in DNA repair and in chromosomal DNA replication (By similarity)., [UniProtKB, PubMed, UniProtKB]; Accessory component of the DNA polymerase epsilon complex. Participates in DNA repair and in chromosomal DNA replication., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; DNA polymerase epsilon, which is involved in DNA repair and replication, is composed of a large catalytic subunit and a small accessory subunit. The protein encoded by this gene represents the small subunit (B). Defects in this gene have been linked to colorectal cancer and to combined immunodeficiency. [provided by RefSeq, Jan 2017]., [RefSeq]; Inhibition of ferroptosis by POLE2 in gastric cancer cells involves the activation of NRF2/GPX4 pathway., [RefSeq, PubMed]; POLE2 Regulates Apoptosis of Oral Squamous Cell Carcinoma Cells through the PI3K/AKT Signaling Pathway., [RefSeq, PubMed]; The Prognostic Hub Gene POLE2 Promotes BLCA Cell Growth via the PI3K/AKT 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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0AV55;A4FU92;A4LBB7;A6NH58;B4DDE6;O43560", "ec_number_list": [], "go_molecular_function": "GO:0003887 DNA-directed DNA polymerase activity;GO:0003677 DNA binding", "go_cellular_component": "GO:0008622 epsilon DNA polymerase complex;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0005634 nucleus", "go_biological_process": "GO:0006281 DNA repair;GO:0006260 DNA replication;GO:0042276 error-prone translesion synthesis;GO:0006261 DNA-templated DNA replication", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "P56282-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92692-1", "uniprot_id": [ { "id": "NECT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92692", "type": "external" } ], "mass": 57742.0, "length": 538, "protein_name": "Nectin-2", "gene_name": "NECTIN2", "organism": "Human", "refseq_name": "nectin-2 isoform delta precursor", "refseq_ac": [ { "id": "NP_001036189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036189", "type": "external" } ], "gene_names_uniprotkb": "NECTIN2; HVEB; PRR2; PVRL2", "gene_names_refseq": "CD112; HVEB; NECTIN2; PRR2; PVRL2; PVRR2", "protein_names_uniprotkb": "Nectin-2; Herpes virus entry mediator B; Herpesvirus entry mediator B; HveB; Nectin cell adhesion molecule 2; Poliovirus receptor-related protein 2", "protein_names_refseq": "herpesvirus entry protein B; nectin-2 isoform delta precursor; nectin-2; poliovirus receptor-like 2; poliovirus receptor-related 2 (herpesvirus entry mediator B)", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); multiple sclerosis (Disease Ontology:DOID:2377)", "pathway": " (hsa:5819); (R-HSA-198933); (R-HSA-418990); (R-HSA-420597)", "pathway_count": 4, "publication_count": 135, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10225955;10499918;10520737;10746781;11237011;11265639;11489943;11513152;11544254;11556966;11602758;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12050160;12213321;12483297;12588680;12759359;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15741237;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16467305;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17081983;17237375;17337780;17967169;18031695;18037897;18055229;18209062;18234675;18593354;19011627;19149696;19354288;19359216;19413330;19592130;20068231;20166139;20730098;21241660;21800138;21841309;21877119;22396535;22927415;23186163;23481700;23584533;23695528;23929856;24275569;24305946;25372031;25576301;25645385;25703557;25716998;25813380;26284469;26300885;26755705;29741879;30429286;30779550;31154438;31611695;31844290;31848261;32157095;32350084;32938616;32983136;33592498;33968037;34019948;34078123;34087483;34185709;35051231;35251023;38408961;38474388;38588410;38592213;38626767;38665916;7531291;7542404;7622062;7806582;8178173;8995416;9219219;9285412;9314561;9657005;9700512;9730896;9845526", "class_list": "", "function": "(Microbial infection) Acts as a receptor for herpes simplex virus 1 (HHV-1) mutant Rid1, herpes simplex virus 1 (HHV-2) and pseudorabies virus (PRV)., [UniProtKB, PubMed, PubMed]; CD112 Supports Lymphatic Migration of Human Dermal Dendritic Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Exercise-induced beta2-adrenergic Receptor Activation Enhances the Antileukemic Activity of Expanded gammadelta T-Cells via DNAM-1 Upregulation and PVR/Nectin-2 Recognition., [RefSeq, PubMed]; Modulator of T-cell signaling. Can be either a costimulator of T-cell function, or a coinhibitor, depending on the receptor it binds to. Upon binding to CD226, stimulates T-cell proliferation and cytokine production, including that of IL2, IL5, IL10, IL13, and IFNG. Upon interaction with PVRIG, inhibits T-cell proliferation. These interactions are competitive (PubMed:26755705). Probable cell adhesion protein (PubMed:9657005)., [UniProtKB, PubMed, PubMed]; PVRL2 Suppresses Antitumor Immunity through PVRIG- and TIGIT-independent Pathways., [RefSeq, PubMed]; Structural basis for the immune recognition and selectivity of the immune receptor PVRIG for ligand Nectin-2., [RefSeq, PubMed]; The SNP rs6859 in NECTIN2 gene is associated with underlying heterogeneous trajectories of cognitive changes in older adults. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a single-pass type I membrane glycoprotein with two Ig-like C2-type domains and an Ig-like V-type domain. This protein is one of the plasma membrane components of adherens junctions. It also serves as an entry for certain mutant strains of herpes simplex virus and pseudorabies virus, and it is involved in cell to cell spreading of these viruses. Variations in this gene have been associated with differences in the severity of multiple sclerosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [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": 1, "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": 2, "reported_phosphosites": 4, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A8K5L5;O75455;Q6IBI6;Q96J29", "ec_number_list": [], "go_molecular_function": "GO:0015026 coreceptor activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0050839 cell adhesion molecule binding;GO:0001618 virus receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0046596 regulation of viral entry into host cell;GO:0046814 coreceptor-mediated virion attachment to host cell;GO:0044406 adhesion of symbiont to host;GO:0007286 spermatid development;GO:0050862 positive regulation of T cell receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "Q92692-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NS86-1", "uniprot_id": [ { "id": "LANC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NS86", "type": "external" } ], "mass": 50854.0, "length": 450, "protein_name": "LanC-like protein 2", "gene_name": "LANCL2", "organism": "Human", "refseq_name": "lanC-like protein 2", "refseq_ac": [ { "id": "NP_061167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061167", "type": "external" } ], "gene_names_uniprotkb": "LANCL2; GPR69B; TASP", "gene_names_refseq": "GPR69B; LANCL2; TASP", "protein_names_uniprotkb": "LanC-like protein 2; Testis-specific adriamycin sensitivity protein", "protein_names_refseq": "G protein-coupled receptor 69B; LanC (bacterial lantibiotic synthetase component C)-like 2; LanC lantibiotic synthetase component C-like 2; LanC like 2; lanC-like protein 2; testis-specific adriamycin sensitivity protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55915)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;11762191;12566319;16979580;19165527;19667068;22544926;23301498;23481700;26154972;26992070;27846572;28904123;29242379;29393594;29508533;29557506;29769354;31154438;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32591558;32938616;33298915;33568630;33717175;33912179;33936100;33968037;34357683;34461927;34509645;35051231;35561310;36241641;36284347;38624012", "class_list": "", "function": "Abscisic acid enriched fig extract promotes insulin sensitivity by decreasing systemic inflammation and activating LANCL2 in skeletal muscle. Publication Status: Online-Only, [RefSeq, PubMed]; Abscisic acid signaling through LANCL2 and PPARgamma induces activation of p38MAPK resulting in dormancy of prostate cancer metastatic cells., [RefSeq, PubMed]; Akt kinase LANCL2 functions as a key driver in EGFR-mutant lung adenocarcinoma tumorigenesis. Publication Status: Online-Only, [RefSeq, PubMed]; CDNA cloned and characterized. May play a role as a component of a peptide-modifying complex, [RefSeq, PubMed]; Data show that lanthionine synthetase C-like protein (LANCL2) is required for abscisic acid binding on human granulocyte membranes and that LANCL2 is necessary for transduction of the ABA signal into granulocytes and rat insulinoma cells., [RefSeq, PubMed]; Identification of prognostic values defined by copy number variation, mRNA and protein expression of LANCL2 and EGFR in glioblastoma patients. Publication Status: Online-Only, [RefSeq, PubMed]; Lanthionine synthetase components C-like 2 increases cellular sensitivity to adriamycin by decreasing the expression of P-glycoprotein through a transcription-mediated mechanism., [RefSeq, PubMed]; Necessary for abscisic acid (ABA) binding on the cell membrane and activation of the ABA signaling pathway in granulocytes., [UniProtKB, PubMed]; Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R8D4;Q6NSL4;Q8TCQ3;Q9BSR1", "ec_number_list": [], "go_molecular_function": "GO:0010314 phosphatidylinositol-5-phosphate binding;GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0070273 phosphatidylinositol-4-phosphate binding;GO:0032266 phosphatidylinositol-3-phosphate binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030864 cortical actin cytoskeleton", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0009789 positive regulation of abscisic acid-activated signaling pathway;GO:0031179 peptide modification;GO:0009787 regulation of abscisic acid-activated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9NS86-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42858-1", "uniprot_id": [ { "id": "HD_HUMAN", "url": "https://www.uniprot.org/uniprot/P42858", "type": "external" } ], "mass": 347603.0, "length": 3142, "protein_name": "Huntingtin", "gene_name": "HTT", "organism": "Human", "refseq_name": "huntingtin isoform 2", "refseq_ac": [ { "id": "NP_002102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002102", "type": "external" } ], "gene_names_uniprotkb": "HTT; HD; IT15", "gene_names_refseq": "HD; HTT; IT15; LOMARS", "protein_names_uniprotkb": "Huntingtin; HD protein; Huntington disease protein", "protein_names_refseq": "huntingtin isoform 2; huntington disease protein", "tax_id": 9606, "disease": "Huntington's disease (Disease Ontology:DOID:12858); neurodegenerative disease (Disease Ontology:DOID:1289); Parkinson's disease (Disease Ontology:DOID:14330); transient cerebral ischemia (Disease Ontology:DOID:224); Lopes-Maciel-Rodan syndrome (MONDO:MONDO:0054573)", "pathway": " (hsa:3064); (R-HSA-9022692)", "pathway_count": 2, "publication_count": 164, "publication_id_list": "10332029;10770929;10958656;11013077;11237011;11461154;12062094;12466534;12783847;14725621;15322089;15654337;15911879;16391387;16476778;17046689;17141218;17413322;17611284;17994015;18088087;18445618;18573880;18669648;18691976;19225110;19331822;19491400;19651622;19690332;19748341;19820693;20026656;20068231;20166139;21685499;21968397;22424782;22544926;23186163;23301498;23370273;23481700;23770565;23770587;23931318;24275569;24366607;24459296;24714562;24715725;25418920;25505266;25576301;25645385;25861763;25880248;26106822;26154972;26198635;26239616;26375851;26728094;26740508;26758079;26811146;26929215;26992070;27329733;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28698602;28757145;28832583;28834231;28855257;28860189;28882895;28904123;29242379;29351928;29393594;29437277;29466333;29493099;29508533;29557506;29632046;29632711;29786170;29802276;29912367;30185623;30315122;30379171;30429286;30524438;30779550;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32757223;32805086;32897882;32938616;32983136;33123756;33141586;33298915;33537174;33572172;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34433824;34509645;34561969;34932366;35051231;35318648;35494241;35561310;35580925;35705054;36010968;36241641;36284347;37074911;38459427;38476051;38810948;39174523;7647777;7759106;7903579;8197474;8696339;9535906;9620804;9700202", "class_list": "", "function": "An upstream open reading frame impedes translation of the huntingtin gene, [RefSeq, PubMed]; Evidence of mutant huntingtin and tau-related pathology within neuronal grafts in Huntington's disease cases., [RefSeq, PubMed]; Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues. Erratum:[Mol Med. 2024 Apr 10;30(1):49. doi: 10.1186/s10020-024-00810-1. PMID: 38600455] Publication Status: Online-Only, [RefSeq, PubMed]; Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016]., [RefSeq]; May play a role in microtubule-mediated transport or vesicle function., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Mutant huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure. Publication Status: Online-Only, [RefSeq, PubMed]; Nucleation of Huntingtin Aggregation Proceeds via Conformational Conversion of Pre-Formed, Sparsely-Populated Tetramers., [RefSeq, PubMed]; Promotes the formation of autophagic vesicles., [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": 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": 1, "reported_phosphosites": 20, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 60, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 5, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q9UQB7", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0031072 heat shock protein binding;GO:0044325 transmembrane transporter binding;GO:0019900 kinase binding;GO:0048487 beta-tubulin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:1901526 positive regulation of mitophagy;GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process;GO:0007417 central nervous system development;GO:0050850 positive regulation of calcium-mediated signaling", "synthesized_glycan_count": 0, "hit_score": 17.8, "record_id": "P42858-1", "record_type": "protein", "filter_code": "0000000.1100111.001000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LR4-1", "uniprot_id": [ { "id": "TAFA4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LR4", "type": "external" } ], "mass": 15682.0, "length": 140, "protein_name": "Chemokine-like protein TAFA-4", "gene_name": "TAFA4", "organism": "Human", "refseq_name": "chemokine-like protein TAFA-4 precursor", "refseq_ac": [ { "id": "NP_001005527", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005527", "type": "external" } ], "gene_names_uniprotkb": "TAFA4; FAM19A4", "gene_names_refseq": "FAM19A4; TAFA-4; TAFA4", "protein_names_uniprotkb": "Chemokine-like protein TAFA-4", "protein_names_refseq": "chemokine-like protein TAFA-4 precursor; chemokine-like protein TAFA-4; family with sequence similarity 19 (chemokine (C-C motif)-like), member A4; family with sequence similarity 19 member A4, C-C motif chemokine like; protein FAM19A4", "tax_id": 9606, "disease": "", "pathway": " (hsa:151647)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;15028294;19851296;20198315;25109685;25281488;34743198;35512257;35686306;36137165;36368013", "class_list": "", "function": "Clinical Regression of High-Grade Cervical Intraepithelial Neoplasia Is Associated With Absence of FAM19A4/miR124-2 DNA Methylation (CONCERVE Study)., [RefSeq, PubMed]; FAM19A4 is a novel ligand of formyl peptide receptor 1., [RefSeq, PubMed]; FAM19A4/miR124-2 Methylation Testing and Human Papillomavirus (HPV) 16/18 Genotyping in HPV-Positive Women Under the Age of 30 Years., [RefSeq, PubMed]; Full genotyping and FAM19A4/miR124-2 methylation analysis in high-risk human papillomavirus-positive samples from women over 30 years participating in cervical cancer screening in Orebro, Sweden. Publication Status: Online-Only, [RefSeq, PubMed]; High methylation of FAM19A4 is associated with cervical carcinomas., [RefSeq, PubMed]; Modulates injury-induced and chemical pain hypersensitivity (By similarity). Ligand of FPR1, can chemoattract macrophages, promote phagocytosis and increase ROS release (PubMed:25109685)., [UniProtKB, UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Risk-stratification of HPV-positive women with low-grade cytology by FAM19A4/miR124-2 methylation and HPV genotyping., [RefSeq, PubMed]; Signals from the TAFA4-PTEN-PU.1 axis alleviate nasal allergy by modulating the expression of FcepsilonRI in mast cells., [RefSeq, PubMed]; This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. Alternatively spliced transcript variants have been observed 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": 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": "A8MVT2", "ec_number_list": [], "go_molecular_function": "GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005615 extracellular space;GO:0030672 synaptic vesicle membrane", "go_biological_process": "GO:0006909 phagocytosis;GO:0010469 regulation of signaling receptor activity;GO:0048246 macrophage chemotaxis;GO:0042554 superoxide anion generation", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q96LR4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q17RW2-1", "uniprot_id": [ { "id": "COOA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q17RW2", "type": "external" } ], "mass": 175496.0, "length": 1714, "protein_name": "Collagen alpha-1(XXIV) chain", "gene_name": "COL24A1", "organism": "Human", "refseq_name": "collagen alpha-1(XXIV) chain isoform 1 precursor", "refseq_ac": [ { "id": "NP_690850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_690850", "type": "external" } ], "gene_names_uniprotkb": "COL24A1", "gene_names_refseq": "COL24A1", "protein_names_uniprotkb": "Collagen alpha-1(XXIV) chain", "protein_names_refseq": "collagen alpha-1(XXIV) chain isoform 1 precursor; collagen alpha-1(XXIV) chain; collagen, type XXIV, alpha 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:255631); (R-HSA-1650814); (R-HSA-2022090); (R-HSA-8874081); (R-HSA-8948216); (R-HSA-9925563)", "pathway_count": 6, "publication_count": 61, "publication_id_list": "10.1101/2023.09.13.557529;10479448;10521801;10596943;10934207;10966814;11237011;12473679;12475640;12482924;12646579;12874293;1323838;1400327;14500733;14602708;15044469;15265795;1577494;15837520;16591531;16782899;171650;17574028;18487197;19075007;19693541;20470363;20802513;21878990;21967573;2307289;24480479;2543975;26154972;28228285;28598419;28832583;29557506;31154438;3173483;31844290;34087483;35051231;35494241;38253038;3905801;3938630;6307276;6809411;710450;7509446;8054685;8207089;9008168;9054364;9417118;9545296;9560306;9582318;9856810", "class_list": "", "function": "Collagen XXIV is an ancient molecule that may contribute to the regulation of type I collagen fibrillogenesis at specific anatomical locations during fetal development, [RefSeq, PubMed]; May participate in regulating type I collagen fibrillogenesis at specific anatomical locations during fetal development., [UniProtKB, PubMed]; The authors show that maternal COL24A1 variants have a significant genome-wide interaction with maternal pre-pregnancy overweight/obesity on Preterm birth risk, with rs11161721 (PG x E=1.8 x 10(-8); empirical PG x E=1.2 x 10(-8)) as the top hit. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the collagen gene family and is thought to regulate type I collagen fibrillogenesis during fetal development. [provided by RefSeq, Mar 2017]., [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 49, "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": "C9J1X6;Q14BD7;Q59EX5;Q5VY50;Q7Z5L5", "ec_number_list": [], "go_molecular_function": "GO:0030020 extracellular matrix structural constituent conferring tensile strength;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0005604 basement membrane", "go_biological_process": "GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q17RW2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5X0-1", "uniprot_id": [ { "id": "SNX10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5X0", "type": "external" } ], "mass": 23598.0, "length": 201, "protein_name": "Sorting nexin-10", "gene_name": "SNX10", "organism": "Human", "refseq_name": "sorting nexin-10 isoform 1", "refseq_ac": [ { "id": "NP_001186764", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186764", "type": "external" } ], "gene_names_uniprotkb": "SNX10", "gene_names_refseq": "OPTB8; SNX10", "protein_names_uniprotkb": "Sorting nexin-10", "protein_names_refseq": "sorting nexin-10 isoform 1", "tax_id": 9606, "disease": "autosomal recessive osteopetrosis 8 (Disease Ontology:DOID:0110940)", "pathway": " (hsa:29887)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;11485546;17012226;21844891;22174188;22499339;23123320;23280965;25645385;25880248;26992070;27600516;27846572;28832583;28834231;29242379;29393594;29632046;29786170;30429286;30784271;31154438;31844290;31848261;31937595;32157095;32357974;32387766;32938616;32983136;34509645;34906048;35051231;35580925;35732962;35981699;37647408;38271879", "class_list": "", "function": "Identification of Key Amino Acid Residues Involved in the Localization of Sorting Nexin 10 and Induction of Vacuole Formation., [RefSeq, PubMed]; Inhibiting sorting nexin 10 promotes mucosal healing through SREBP2-mediated stemness restoration of intestinal stem cells. Erratum:[Sci Adv. 2024 Apr 12;10(15):eadp3968. doi: 10.1126/sciadv.adp3968. PMID: 38608031], [RefSeq, PubMed]; Osteopetrosis associated with PLEKHM1 and SNX10 genes, both involved in osteoclast vesicular trafficking., [RefSeq, PubMed]; Overexpression Pattern of miR-301b in Osteosarcoma and Its Relevance with Osteosarcoma Cellular Behaviors via Modulating SNX10., [RefSeq, PubMed]; Probable phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes. Plays a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium. Required for the localization to the cilium of V-ATPase subunit ATP6V1D and ATP6V0D1, and RAB8A. Involved in osteoclast differentiation and therefore bone resorption., [UniProtKB, PubMed, PubMed, PubMed]; SNX10 activity may be involved in the regulation of endosome homeostasis, [RefSeq, PubMed]; SNX10 promoted liver IR injury by facilitating macrophage M1 polarization via NLRP3 inflammasome activation., [RefSeq, PubMed]; SNX10 regulates the ciliary trafficking of Rab8a, which is a critical regulator of ciliary membrane extension., [RefSeq, PubMed]; Since inhibition of vesicular trafficking is essential for osteoclast formation and activity and SNX10 is involved in vesicular trafficking, these studies may identify a new gene involved in the development of bone diseases including osteoporosis., [RefSeq, PubMed]; This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene may play a role in regulating endosome homeostasis. Alternative splicing results in multiple transcript variants. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "E9PFH5;Q8IYT5", "ec_number_list": [], "go_molecular_function": "GO:0051117 ATPase binding;GO:0005545 1-phosphatidylinositol binding;GO:1901981 phosphatidylinositol phosphate binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005768 endosome;GO:0005783 endoplasmic reticulum;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0030316 osteoclast differentiation;GO:0006886 intracellular protein transport;GO:0007032 endosome organization;GO:0060271 cilium assembly;GO:0016050 vesicle organization", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9Y5X0-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96E29-1", "uniprot_id": [ { "id": "MTEF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96E29", "type": "external" } ], "mass": 47971.0, "length": 417, "protein_name": "Transcription termination factor 3, mitochondrial", "gene_name": "MTERF3", "organism": "Human", "refseq_name": "transcription termination factor 3, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_057026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057026", "type": "external" } ], "gene_names_uniprotkb": "MTERF3; CGI-12; MTERFD1", "gene_names_refseq": "CGI-12; MTERF3; MTERFD1", "protein_names_uniprotkb": "Transcription termination factor 3, mitochondrial; Mitochondrial transcription termination factor 3; mTERF domain-containing protein 1, mitochondrial; mTERF3", "protein_names_refseq": "MTERF domain containing 1; mTERF domain-containing protein 1, mitochondrial; transcription termination factor 3, mitochondrial isoform 1 precursor; transcription termination factor 3, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:51001); (R-HSA-5205685); (R-HSA-6793080); (R-HSA-9937008)", "pathway_count": 4, "publication_count": 81, "publication_id_list": "11237011;11809803;12496758;15110318;15769737;17662942;18083837;19356719;19417006;19432818;20068231;20126261;20430012;20577816;20712405;20877624;21115803;21194381;21292163;21531335;21617041;22341444;22949673;23022348;23300484;23303773;23804760;24036117;24397554;24660806;24751536;24784582;25008111;25009282;25074936;25474007;25527497;25576301;26116755;26365381;26464487;26811146;26992070;27035970;27247382;27667664;27920218;27974379;28082677;28218747;28228285;28832583;28834231;28904123;29107537;29351928;29393594;29394115;29437277;29995846;30315122;30379171;30484775;31217245;31477916;31754344;31844290;32157095;32296703;32357974;32938616;33141586;33298915;33912179;34357683;35051231;36010968;36215666;38177713;38287189;40596516", "class_list": "", "function": "Binds promoter DNA and regulates initiation of transcription (PubMed:17662942). Required for normal mitochondrial transcription and translation, and for normal assembly of mitochondrial respiratory complexes. Required for normal mitochondrial function (By similarity). Maintains 16S rRNA levels and functions in mitochondrial ribosome assembly by regulating the biogenesis of the 39S ribosomal subunit (By similarity)., [UniProtKB, UniProtKB, PubMed]; Binds promoter DNA and regulates initiation of transcription. Required for normal mitochondrial transcription and translation, and for normal assembly of mitochondrial respiratory complexes. Required for normal mitochondrial function. Maintains 16S rRNA levels and functions in mitochondrial ribosome assembly by regulating the biogenesis of the 39S ribosomal subunit., [UniProtKB, UniProtKB]; MTERFD1 and MTERFD3 have a role in impairing the completion of mitochondrial DNA replication, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Suppressing MTERF3 inhibits proliferation of human hepatocellular carcinoma via ROS-mediated p38 MAPK activation. Publication Status: Online-Only, [RefSeq, PubMed]; These results demonstrated that MTERFD1 played an oncogenic role in colorectal (CRC) development and enhanced irradiation resistance by regulating IL-6 and IL-11 in CRC cells. MTERFD1 may serve as a potential prognostic and therapeutic marker for radiotherapy in CRC. 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": 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": "B3KMG6;G3V130;Q9Y301", "ec_number_list": [], "go_molecular_function": "GO:0000976 transcription cis-regulatory region binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0061668 mitochondrial ribosome assembly;GO:1903108 regulation of mitochondrial transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q96E29-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6F7-1", "uniprot_id": [ { "id": "GCSAM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6F7", "type": "external" } ], "mass": 21005.0, "length": 178, "protein_name": "Germinal center-associated signaling and motility protein", "gene_name": "GCSAM", "organism": "Human", "refseq_name": "germinal center-associated signaling and motility protein isoform 3", "refseq_ac": [ { "id": "NP_001177188", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177188", "type": "external" } ], "gene_names_uniprotkb": "GCSAM; GAL; GCET2", "gene_names_refseq": "GCAT2; GCET2; GCSAM; HGAL", "protein_names_uniprotkb": "Germinal center-associated signaling and motility protein; Germinal center B-cell-expressed transcript 2 protein; Germinal center-associated lymphoma protein; hGAL", "protein_names_refseq": "germinal center B-cell-expressed transcript 2 protein; germinal center expressed transcript 2; germinal center-associated lymphoma protein; germinal center-associated signaling and motility protein isoform 3; germinal center-associated signaling and motility protein; human germinal center-associated lymphoma", "tax_id": 9606, "disease": "", "pathway": " (hsa:257144)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11237011;12509382;12819018;15677569;17823310;18507432;18512783;19690332;20844236;21872626;22299025;23299888;23328677;23481700;23719902;24366607;24715725;25502872;25880248;26375851;26758079;26992070;27846572;27920218;28228285;28467828;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29314611;29508533;31217245;31570756;31844290;32350084;32357974;32502341;32983136;33024996;33298915;33691108;33717175;33912179;33936100;34357683;34543391;34561969;34932366;35561310;35580925;37519110", "class_list": "", "function": "Conditional expression of HGAL leads to the development of diffuse large B-cell lymphoma in mice., [RefSeq, PubMed]; Gene is induced by IL4 and expression strongly predicts survival in diffuse large B-cell lymphoma GeneRIF: results report the cloning of HGAL, a germinal center its expression pattern in normal tissues and hematologic malignancies, its induction by IL4, and the prognostic significance of its expression in predicting survival in diffuse large B-cell lymphoma, [RefSeq, PubMed]; HGAL inhibits lymphoma dissemination by interacting with multiple cytoskeletal proteins., [RefSeq, PubMed]; HGAL is involved in negative regulation of lymphocyte migration, thus constraining lymphocytes to the germinal center, [RefSeq, PubMed]; Involved in the negative regulation of lymphocyte motility. It mediates the migration-inhibitory effects of IL6. Serves as a positive regulator of the RhoA signaling pathway. Enhancement of RhoA activation results in inhibition of lymphocyte and lymphoma cell motility by activation of its downstream effector ROCK. Is a regulator of B-cell receptor signaling, that acts through SYK kinase activation., [UniProtKB, PubMed, PubMed, PubMed]; Recent BCR stimulation induces a negative autoregulatory loop via FBXO10 mediated degradation of HGAL., [RefSeq, PubMed]; Results report the cloning of germinal center B-cell expressed transcripts 1 and 2 (GCET1 and 2), and show that both are expressed in follicular lymphoma and diffuse large B-cell lymphoma with germinal center B-cell differentiation, [RefSeq, PubMed]; The restricted expression and germinal center specificity of HGAL protein suggest that it may have an important role in the diagnosis of specific lymphomas, [RefSeq, PubMed]; This gene encodes a protein which may function in signal transduction pathways and whose expression is elevated in germinal cell lymphomas. It contains a putative PDZ-interacting domain, an immunoreceptor tyrosine-based activation motif (ITAM), and two putative SH2 binding sites. In B cells, its expression is specifically induced by interleukin-4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; Value of GCET1, HGAL (GCET2), and LMO2 in the Determination of Germinal Center Phenotype in Diffuse Large B-cell 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "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": "C9JD17;C9JUG6", "ec_number_list": [], "go_molecular_function": "GO:0045159 myosin II binding;GO:0003779 actin binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:2000402 negative regulation of lymphocyte migration;GO:0050855 regulation of B cell receptor signaling pathway;GO:2000401 regulation of lymphocyte migration", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q8N6F7-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HD26-1", "uniprot_id": [ { "id": "GOPC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HD26", "type": "external" } ], "mass": 50520.0, "length": 462, "protein_name": "Golgi-associated PDZ and coiled-coil motif-containing protein", "gene_name": "GOPC", "organism": "Human", "refseq_name": "Golgi-associated PDZ and coiled-coil motif-containing protein isoform b", "refseq_ac": [ { "id": "NP_001017408", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017408", "type": "external" } ], "gene_names_uniprotkb": "GOPC; CAL; FIG", "gene_names_refseq": "CAL; FIG; GOPC1; GOPC; PIST; dJ94G16.2", "protein_names_uniprotkb": "Golgi-associated PDZ and coiled-coil motif-containing protein; CFTR-associated ligand; Fused in glioblastoma; PDZ protein interacting specifically with TC10; PIST", "protein_names_refseq": "CFTR-associated ligand; Golgi-associated PDZ and coiled-coil motif-containing protein isoform b; Golgi-associated PDZ and coiled-coil motif-containing protein; PDZ protein interacting specifically with TC10; PDZ/coiled-coil domain binding partner for the rho-family GTPase TC10; dJ94G16.2 PIST; fused in glioblastoma; golgi-associated PDZ and coiled-coil motif containing protein", "tax_id": 9606, "disease": "azoospermia (Disease Ontology:DOID:14227); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:57120); (R-HSA-5627083); (R-HSA-9013406)", "pathway_count": 3, "publication_count": 101, "publication_id_list": "10490598;10967094;11162552;11185749;11237011;11384996;11707463;12242347;12456725;12661006;12773384;14570915;15144186;15317815;15358775;15546864;15951434;16882988;17214551;18754678;19258391;19713215;21454492;21872626;21993680;22223895;23255595;23301498;23481700;23818989;24297911;24355937;24366607;24714562;24715725;25576301;25678704;25880248;25892735;26154972;26375851;26811146;26992070;27481945;27600516;27846572;27893789;27920218;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30524438;31154438;31530632;31844290;31871319;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34357683;34405274;34433824;34509645;34932366;35051231;35580925;36010968;36241641;36284347;36511702;40914422;7721814;9857026", "class_list": "", "function": "CAL retains CFTR in the cell and targets CFTR for degradation., [RefSeq, PubMed]; Golgin-160 assosiates in an isoform-specific manner with the Golgi-associated protein PIST, [RefSeq, PubMed]; Our discoveries provide insight into the specific interaction of the GOPC PDZ domain with the C-terminal peptide of Nlg and also provide a general insight about the possible binding mode of the interaction of Nlg with other PDZ domain-containing proteins., [RefSeq, PubMed]; Plays a role in intracellular protein trafficking and degradation (PubMed:11707463, PubMed:14570915, PubMed:15358775). May regulate CFTR chloride currents and acid-induced ASIC3 currents by modulating cell surface expression of both channels (By similarity). May also regulate the intracellular trafficking of the ADR1B receptor (PubMed:15358775). May play a role in autophagy (By similarity). Together with MARCHF2 mediates the ubiquitination and lysosomal degradation of CFTR (PubMed:23818989). Overexpression results in CFTR intracellular retention and lysosomaldegradation in the lysosomes (PubMed:11707463, PubMed:14570915)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; The cystic fibrosis-associated ligand (CAL) PDZ domain of the C-terminus of cystic fibrosis-associated conductance regulator (CFTR) is competitively involved with PDZ proteins Na+/H+ exchanger-3 regulatory factors NHERF1 and NHERF2., [RefSeq, PubMed]; This gene encodes a Golgi protein with a PDZ domain. The PDZ domain is globular and proteins which contain them bind other proteins through short motifs near the C-termini. Mice which are deficient in the orthologous protein have globozoospermia and are infertile. Multiple transcript variants encoding different isoforms have been found 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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NM30;Q59FS4;Q969U8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0044325 transmembrane transporter binding;GO:0140313 molecular sequestering activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0014069 postsynaptic density", "go_biological_process": "GO:0015031 protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:2000009 negative regulation of protein localization to cell surface;GO:0010360 negative regulation of anion channel activity;GO:0006893 Golgi to plasma membrane transport", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q9HD26-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NE63-1", "uniprot_id": [ { "id": "HIPK4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NE63", "type": "external" } ], "mass": 69425.0, "length": 616, "protein_name": "Homeodomain-interacting protein kinase 4", "gene_name": "HIPK4", "organism": "Human", "refseq_name": "homeodomain-interacting protein kinase 4", "refseq_ac": [ { "id": "NP_653286", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653286", "type": "external" } ], "gene_names_uniprotkb": "HIPK4", "gene_names_refseq": "HIPK4", "protein_names_uniprotkb": "Homeodomain-interacting protein kinase 4; 2.7.11.1", "protein_names_refseq": "homeodomain-interacting protein kinase 4", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330); depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:147746)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "17344846;18022393;25630557;25645385;28966120;33091337;35051231;35580925;35931115", "class_list": "", "function": "Analysis of these mutants revealed that HIPK1, HIPK2 and HIPK3 but not HIPK4 are capable of autophosphorylating on other tyrosines Publication Status: Online-Only, [RefSeq, PubMed]; Homeodomain interacting protein kinase 4 could phosphorylate human p53 protein at serine 9, both in vitro and in vivo, [RefSeq, PubMed]; Homeodomain-interacting protein kinase HIPK4 regulates phosphorylation of manchette protein RIMBP3 during spermiogenesis., [RefSeq, PubMed]; Loss of HIPK4 expression improves early skin epithelial differentiation accompanied by an increase in K8 and K18 expression, and improves late keratinocyte differentiation with an increase of epidermal identity, [RefSeq, PubMed]; Protein kinase that phosphorylates human TP53 at Ser-9, and thus induces TP53 repression of BIRC5 promoter (By similarity). May act as a corepressor of transcription factors (Potential)., [UniProtKB]; This gene encodes a member of the homeodomain interacting protein kinase (HIPK) family of proteins. While other members of this family are found throughout vertebrates, this member is present only in mammals. Compared to other members of this family, the encoded protein lacks a nuclear localization signal and a C-terminal autoinhibitory domain. The encoded protein exhibits kinase activity and may phosphorylate the tumor suppressor protein p53. [provided by RefSeq, Jul 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 28, "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": "A8K863;Q96M54", "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:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0035173 histone kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NE63-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NI77-1", "uniprot_id": [ { "id": "KI18A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NI77", "type": "external" } ], "mass": 102281.0, "length": 898, "protein_name": "Kinesin-like protein KIF18A", "gene_name": "KIF18A", "organism": "Human", "refseq_name": "kinesin-like protein KIF18A", "refseq_ac": [ { "id": "NP_112494", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112494", "type": "external" } ], "gene_names_uniprotkb": "KIF18A; SW-cl.108", "gene_names_refseq": "KIF18A; MS-KIF18A; PPP1R99", "protein_names_uniprotkb": "Kinesin-like protein KIF18A; MS-KIF18A; Marrow stromal KIF18A", "protein_names_refseq": "kinesin-like protein KIF18A; protein phosphatase 1, regulatory subunit 99", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:81930); (R-HSA-141430); (R-HSA-141444); (R-HSA-2132295); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-6811434); (R-HSA-68877); (R-HSA-9648025); (R-HSA-983189)", "pathway_count": 11, "publication_count": 313, "publication_id_list": "10036229;10052452;10064083;10072072;10318838;10411507;10445031;10480952;10540230;10559959;10593899;10600384;10631941;10631952;10639150;10678165;10748235;10761932;10809954;10921873;10958683;11081627;11172815;11181178;11230166;11371342;11493604;11509732;11529500;11535616;11684289;11689559;11703931;11726511;11739780;11748249;11782313;11790530;11804586;11813165;11853874;12006501;12047556;12070132;12078484;12194817;12198549;12368902;12429848;12577064;12679384;12732141;12742663;12748383;12805219;12852857;1406973;14504276;14654841;14730319;14731593;15006353;15029241;15037235;15085137;15272311;15326200;15339662;15507212;15616190;15632110;15723797;15737063;15749704;15813748;15864301;15866170;15878648;15911768;15944396;16030262;1607388;16181339;16242130;16262723;16292343;1631136;16439214;16541025;16565220;16571679;16618111;16622419;16622420;16633337;16682347;1680566;16824007;16890222;16912714;16926190;16940185;16943183;17006958;17030981;17112726;17113138;17113389;17129783;17142755;17196341;17198702;17253781;17283181;17346968;17360540;1737036;17429068;17451557;17538014;17760859;17927562;17956946;18001770;18046453;18097444;18182008;18267093;18287528;18292509;18342609;18513970;18524849;18669648;18680169;18716626;18809720;18923426;1898986;19007248;19015319;19109418;19116309;19151722;19164740;19338388;19350017;19369418;1956401;19564404;1957170;19625775;19631211;19636373;19691289;19696148;19758564;19815554;19965387;20005805;20030946;20068231;20101212;20136777;20357002;20427317;20462495;20534429;20591975;20637885;21111234;21116285;21148482;2121367;21219331;21397845;2142332;21441454;21550981;21576392;21689688;21844168;21868368;21878504;2190094;21987589;22013193;22094269;22094460;22275430;22304919;22608513;22790947;22885700;23186163;23222643;23396477;23481700;23801653;2391366;24714562;24914801;2521221;2522352;25364732;25436559;25492864;25576301;25740311;25755297;25789526;26154972;26992070;28832583;28904123;29242379;29493099;30379171;30484775;30524438;30833945;31217245;3130248;3134048;31409757;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32897882;32938616;33298915;33537174;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34260926;34405274;34509645;34561969;34932366;35051231;35561310;35580925;35926461;36010968;36215666;36241641;38253038;38372748;38446308;38501674;39331093;40596516;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;9649308;9649503;9751720;9892021;9990005", "class_list": "", "function": "KIF18A inactivates hepatic stellate cells and alleviates liver fibrosis through the TTC3/Akt/mTOR pathway. Publication Status: Online-Only, [RefSeq, PubMed]; KIF18A is a member of the kinesin superfamily of microtubule-associated molecular motors (see MIM 148760) that use hydrolysis of ATP to produce force and movement along microtubules (Luboshits and Benayahu, 2005 [PubMed 15878648]).[supplied by OMIM, Aug 2008]., [RefSeq]; KIF18A promotes cervical squamous cell carcinoma progression by activating the PI3K/AKT pathway through upregulation of CENPE., [RefSeq, PubMed]; Kinesin Family Member-18A (KIF18A) Promotes Cell Proliferation and Metastasis in Hepatocellular Carcinoma., [RefSeq, PubMed]; Length-dependent poleward flux of sister kinetochore fibers promotes chromosome alignment., [RefSeq, PubMed]; Microtubule-depolymerizing kinesin which plays a role in chromosome congression by reducing the amplitude of preanaphase oscillations and slowing poleward movement during anaphase, thus suppressing chromosome movements. May stabilize the CENPE-BUB1B complex at the kinetochores during early mitosis and maintains CENPE levels at kinetochores during chromosome congression., [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": 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": 36, "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": "Q4VPE3;Q86VS5;Q9H0F3", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0016887 ATP hydrolysis activity;GO:0051010 microtubule plus-end binding", "go_cellular_component": "GO:0005828 kinetochore microtubule;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0015031 protein transport;GO:0007018 microtubule-based movement;GO:0007080 mitotic metaphase chromosome alignment;GO:0071392 cellular response to estradiol stimulus;GO:0007019 microtubule depolymerization", "synthesized_glycan_count": 0, "hit_score": 31.7, "record_id": "Q8NI77-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TEB7-1", "uniprot_id": [ { "id": "RN128_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TEB7", "type": "external" } ], "mass": 46521.0, "length": 428, "protein_name": "E3 ubiquitin-protein ligase RNF128", "gene_name": "RNF128", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF128 isoform 2", "refseq_ac": [ { "id": "NP_078815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078815", "type": "external" } ], "gene_names_uniprotkb": "RNF128", "gene_names_refseq": "GRAIL; RNF128", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF128; 2.3.2.27; GRAIL; Gene related to anergy in lymphocytes protein; RING finger protein 128; RING-type E3 ubiquitin transferase RNF128", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF128 isoform 2; E3 ubiquitin-protein ligase RNF128; RING-type E3 ubiquitin transferase RNF128; gene related to anergy in lymphocytes protein; ring finger protein 128, E3 ubiquitin protein ligase", "tax_id": 9606, "disease": "", "pathway": " (hsa:79589); (R-HSA-5689880); (R-HSA-5689896)", "pathway_count": 3, "publication_count": 93, "publication_id_list": "10.1101/2023.09.13.557529;10385526;10444327;10982817;11237011;11463333;11566882;11923872;12705856;12917689;12917691;14661020;15053880;15258597;15334086;15916963;16214042;16901786;16964248;17259178;17290220;17443180;17475842;17873522;17980597;17981138;18172164;18467330;18632802;18636086;18713730;19015242;19135894;19188362;19363159;19383985;19398555;19424180;19464428;19542455;19818707;19838211;19874889;19910467;19996094;20096447;20228808;20368735;20501646;20553488;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22016387;22029577;22085928;22124327;22128162;22216260;23159851;23395819;23486064;23824326;23825189;23827681;24056413;24260525;24493797;24610782;24715725;24896179;25197364;25305019;25578727;25904330;26280536;27776110;29351928;31844290;32157095;34416429;35051231;35723244;37186218;37344492;37452271;38702781;39018356;7578059", "class_list": "", "function": "E3 ubiquitin-protein ligase that catalyzes 'Lys-27', 'Lys-48'- or 'Lys-63'-linked polyubiquitin chains formation and plays a role in different biological processes such as modulation of immune response, cytoskeletal dynamics or protein homeostasis. Inhibits IL2 and IL4 transcription, thereby playing an important role in the induction of the anergic phenotype, a long-term stable state of T-lymphocyte unresponsiveness to antigenic stimulation associated with the blockade of interleukin production (PubMed:12705856). Ubiquitinates ARPC5 with 'Lys-48' linkages and COR1A with 'Lys-63' linkages leading to their degradation, down-regulation of these cytoskeletal components results in impaired lamellipodium formation and reduced accumulation of F-actin at the immunological synapse (PubMed:22016387). Functions in the patterning of the dorsal ectoderm; sensitizes ectoderm to respond to neural-inducing signals. Plays a positive role in innate immune response by promoting 'Lys-63'-linked ubiquitination of TBK1 after RNA- or DNA-virus infection (PubMed:27776110). Regulates alveolar macrophage activation and neutrophil infiltration by interacting with TLR4, targeting it for degradation, and inhibiting NF-kappa-B activation, hence decreasing pro-inflammatory cytokines (PubMed:37344492). Negatively regulates the IL-3/STAT5 signaling pathway by facilitating 'Lys-27'-linked polyubiquitination of IL3RA leading to its degradation via lysosomal pathway (PubMed:38702781). Directly regulates the N-glycosylation process in the endoplasmic reticulum by targeting the glycosyl-transferase RPN1 for ubiquitination and degradation (PubMed:39567208). Other substrates targeted for degradation by RNF128 include transmembrane proteins CD40L, CD83 or the tetraspanin CD151 (PubMed:18713730, PubMed:19542455)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Forced expression of GRAIL in a T cell line from a T-cell receptor transgenic mouse is sufficient for conversion of these cells to a regulatory phenotype., [RefSeq, PubMed]; GRAIL1 Stabilizes Misfolded Mutant p53 through a Ubiquitin Ligase-Independent, Chaperone Regulatory Function., [RefSeq, PubMed]; Inhibition of T cell activation is not due to apoptosis or disruption of proximal T- cell receptor signaling, but is associated with up-regulation of GRAIL in CD4+ T cells, with modest effects on other E3 ubiquitin ligases., [RefSeq, PubMed]; Mechanism of tumor-derived extracellular vesicles in prostatic cancer progression through the circFMN2/KLF2/RNF128 axis., [RefSeq, PubMed]; RING finger protein 128 (RNF128) regulates malignant biological behaviors of colorectal cancer cells via PI3K/AKT signaling pathway., [RefSeq, PubMed]; RNF128 expression in lung adenocarcinoma is a favorable prognostic factor associated with decreased tumor-associated macrophages., [RefSeq, PubMed]; The protein encoded by this gene is a type I transmembrane protein that localizes to the endocytic pathway. This protein contains a RING zinc-finger motif and has been shown to possess E3 ubiquitin ligase activity. Expression of this gene in retrovirally transduced T cell hybridoma significantly inhibits activation-induced IL2 and IL4 cytokine production. Induced expression of this gene was observed in anergic CD4(+) T cells, which suggested a role in the induction of anergic phenotype. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]; UBCH5 Family Members Differentially Impact Stabilization of Mutant p53 via RNF128 Iso1 During Barrett's Progression to Esophageal Adenocarcinoma., [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": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "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": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A0PJI4;Q6PH80;Q6ZTJ8;Q96RF3;Q9H5E4", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.5.2", "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" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0031647 regulation of protein stability;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0061462 protein localization to lysosome;GO:1904352 positive regulation of protein catabolic process in the vacuole", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q8TEB7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UMY4-2", "uniprot_id": [ { "id": "SNX12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UMY4", "type": "external" } ], "mass": 18885.0, "length": 162, "protein_name": "Sorting nexin-12", "gene_name": "SNX12", "organism": "Human", "refseq_name": "sorting nexin-12 isoform 4", "refseq_ac": [ { "id": "NP_001243117", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243117", "type": "external" } ], "gene_names_uniprotkb": "SNX12", "gene_names_refseq": "SNX12", "protein_names_uniprotkb": "Sorting nexin-12", "protein_names_refseq": "sorting nexin-12 isoform 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:29934)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11485546;15592455;16166738;17081983;18669648;19651622;20068231;20166139;22709416;22719997;23186163;23301498;28510447;28705836;30573663;32157095;32488085;33298915;33537174;33592498;33968037;35251023;35580925;36010968;36215666;36241641;36284347;38665916", "class_list": "", "function": "Find that overexpression of SNX12 restores the sorting process in an Hrs knockdown background. Altogether, our data show that despite lower expression level, SNX12 shares redundant functions with SNX3 in the biogenesis of multivesicular endosomes, [RefSeq, PubMed]; May be involved in several stages of intracellular trafficking., [UniProtKB]; Metallothionein deficient mice have a marked decrease in Snx12 during acute lung injury, [RefSeq, PubMed]; SNX12 plays a key role in intraluminal vesicle formation and in the maturation of a subpopulation of early endosomes into late endosomes, thereby regulating selective endocytic transport of cargo for degradation., [RefSeq, PubMed]; SNX12 protein level is dramatically decreased in the brain of Alzheimer's disease patients as compared to that of controls. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. A similar protein in mouse may be involved in regulating the neurite outgrowth. Alternate splicing results in multiple transcript variants. [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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "F8W8K5;Q8WUG9", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding;GO:0032266 phosphatidylinositol-3-phosphate binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005769 early endosome;GO:0031901 early endosome membrane;GO:0030904 retromer complex", "go_biological_process": "GO:0010629 negative regulation of gene expression;GO:0015031 protein transport;GO:0030100 regulation of endocytosis;GO:0042177 negative regulation of protein catabolic process;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9UMY4-2", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H115-1", "uniprot_id": [ { "id": "SNAB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H115", "type": "external" } ], "mass": 33557.0, "length": 298, "protein_name": "Beta-soluble NSF attachment protein", "gene_name": "NAPB", "organism": "Human", "refseq_name": "beta-soluble NSF attachment protein isoform a", "refseq_ac": [ { "id": "NP_001269947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269947", "type": "external" } ], "gene_names_uniprotkb": "NAPB; SNAPB", "gene_names_refseq": "DEE107; NAPB; SNAP-BETA; SNAPB", "protein_names_uniprotkb": "Beta-soluble NSF attachment protein; N-ethylmaleimide-sensitive factor attachment protein beta; SNAP-beta", "protein_names_refseq": "N-ethylmaleimide-sensitive factor attachment protein, beta; beta-soluble NSF attachment protein isoform a; beta-soluble NSF attachment protein", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 107 (Disease Ontology:DOID:0070393); Alzheimer's disease (Disease Ontology:DOID:10652); Down syndrome (Disease Ontology:DOID:14250)", "pathway": " (hsa:63908); (R-HSA-204005); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-6811438); (R-HSA-6811440)", "pathway_count": 6, "publication_count": 275, "publication_id_list": "10052452;10189370;10209123;10318838;10445031;10559959;10637310;10652308;10652516;10679020;10747087;10761932;10788476;10825291;10865125;10903204;10921873;10982397;10990452;11035026;11035033;11172815;11237011;11285137;11303027;11306556;11346801;11359012;11461920;11493604;11689439;11689559;11703931;11718716;11726511;11739780;11748249;11827983;11839770;11927603;12011112;12047556;12070132;12235121;12377769;12383348;12388752;12429822;12620188;12620189;12634853;14504276;14580338;14654841;14718928;14742712;15029241;15037235;15077113;15077114;15128430;15269279;15272311;15483056;15504911;15616190;15632110;15654769;15718469;15728195;15758030;15813748;15870108;15878329;15878873;16030262;16042553;16129887;16303754;1631136;16495487;16571679;16624868;16633337;16723730;1680566;16885419;16912714;16926190;16936697;16940185;17005010;17038314;17113389;17192411;17253781;17274799;17287728;17316621;17360540;17429068;17451557;17488291;17562788;17684057;17698061;17760859;17927562;17956946;18086915;18182008;18195106;18243103;18256213;18283113;18287528;18367545;18451304;18524849;18664496;18809720;18843296;18946081;1898986;19015319;19109418;19151722;19164740;19296914;19369418;19490898;19536132;1957170;19620288;19631211;19638414;19656848;19715559;19758564;20005805;20136777;20163571;20357002;20427317;20462495;20534429;20545907;20637885;20679433;20685960;20874812;20966969;21183348;21219331;21421921;21436057;21478858;21532587;21550981;21689688;21807881;21844168;22013193;22094269;22157747;22188167;22304919;22335553;22354037;22581368;22675024;22717455;23091056;23239882;23378023;23378591;23396477;23437303;23462996;23479643;23481700;23698585;23839779;23864707;23936529;23940353;24119662;24794632;24806965;24917561;25202031;25343031;25364732;25406594;25418920;25436559;25492864;25576301;25586378;25619252;25645385;25708460;25880248;26235277;26758079;27920218;28063628;28097321;28228285;28510447;28514659;28834231;29242379;29314611;29331515;29393594;29632046;29769354;29786170;30315122;30833945;31217245;31530632;32157095;32265295;32357974;32938616;33189936;33717175;33912179;33981976;34185709;36010968;37014259;37938771;7691276;7844144;7909812;8001155;8128252;8132710;8221884;8253837;8440258;8505331;8620540;8636227;8663406;8670882;8945478;8991093;9050864;9094723;9114004;9150144;9177194;9230071;9244307;9288971;9307973;9323141;9380700;9382863;9405360;9476900;9490716;9510256;9590177;9647643;9653114;9671725;9707577;9751720;9915833;9990005", "class_list": "", "function": "A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy., [RefSeq, PubMed]; NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant., [RefSeq, PubMed]; Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the soluble N-ethyl-maleimide-sensitive fusion attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. This gene encodes the SNAP beta isoform which has been shown to be preferentially expressed in brain tissue. The encoded protein also interacts with the GluR2 alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionate (AMPA) receptor subunit C-terminus and may play a role as a chaperone in the molecular processing of the AMPA receptor. [provided by RefSeq, Mar 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": 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": "B4DK44;Q4G0M0;Q4G187;Q5JXF9;Q8N3C4", "ec_number_list": [], "go_molecular_function": "GO:0019905 syntaxin binding;GO:0005483 soluble NSF attachment protein activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0043195 terminal bouton;GO:0070062 extracellular exosome;GO:0070044 synaptobrevin 2-SNAP-25-syntaxin-1a complex;GO:0016020 membrane", "go_biological_process": "GO:0035494 SNARE complex disassembly;GO:0006886 intracellular protein transport;GO:0035249 synaptic transmission, glutamatergic;GO:0010807 regulation of synaptic vesicle priming;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 27.8, "record_id": "Q9H115-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5I0X4-1", "uniprot_id": [ { "id": "PEX39_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5I0X4", "type": "external" } ], "mass": 10566.0, "length": 101, "protein_name": "Peroxisomal biogenesis factor 39", "gene_name": "PEX39", "organism": "Human", "refseq_name": "peroxisomal biogenesis factor 39", "refseq_ac": [ { "id": "NP_001008739", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008739", "type": "external" } ], "gene_names_uniprotkb": "PEX39; C6orf226", "gene_names_refseq": "C6orf226; PEX39", "protein_names_uniprotkb": "Peroxisomal biogenesis factor 39; Peroxin-39", "protein_names_refseq": "peroxisomal biogenesis factor 39; uncharacterized protein C6orf226", "tax_id": 9606, "disease": "", "pathway": " (hsa:441150)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "24366607;25576301;26154972;27600516;28832583;28834231;29508533;29557506;29632711;30429286;31154438;31530632;31844290;32161166;32488085;32502341;32938616;33298915;33592498;33968037;35051231;37160800;40739340", "class_list": "", "function": "Cytosolic peroxin that promotes the peroxisomal import of proteins containing a type-2 peroxisomal targeting signal (PTS2) by binding to PEX7 and stabilizing its interaction with PTS2-containing cargo (PubMed:37160800, PubMed:40739340). PEX39 subsequently transfers the PEX7-cargo complex to PEX13 at the peroxisomal membrane, enabling PEX7 to bind PEX13 and facilitating translocation of PTS2-containing proteins into the peroxisome. Both PEX39 and PEX13 contain a conserved KPWE motif, which enables competitive binding to PEX7 and ensures efficient handover of the complex (PubMed:40739340)., [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": 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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005777 peroxisome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q5I0X4-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14185-1", "uniprot_id": [ { "id": "DOCK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14185", "type": "external" } ], "mass": 215346.0, "length": 1865, "protein_name": "Dedicator of cytokinesis protein 1", "gene_name": "DOCK1", "organism": "Human", "refseq_name": "dedicator of cytokinesis protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001371", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001371", "type": "external" } ], "gene_names_uniprotkb": "DOCK1", "gene_names_refseq": "DOCK180; DOCK1; ced5", "protein_names_uniprotkb": "Dedicator of cytokinesis protein 1; 180 kDa protein downstream of CRK; DOCK180", "protein_names_refseq": "180 kDa protein downstream of CRK; DOwnstream of CrK; dedicator of cytokinesis protein 1 isoform 2", "tax_id": 9606, "disease": "DiGeorge syndrome (Disease Ontology:DOID:11198); gastroenteritis (Disease Ontology:DOID:2326); tetralogy of Fallot (Disease Ontology:DOID:6419); viral infectious disease (Disease Ontology:DOID:934)", "pathway": " (hsa:1793); (R-HSA-2029482); (R-HSA-418885); (R-HSA-4420097); (R-HSA-8849471); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013408); (R-HSA-9664422); (R-HSA-983231); (R-HSA-9958810)", "pathway_count": 11, "publication_count": 461, "publication_id_list": "10037737;10075701;10207622;10219243;10232922;10395673;10464238;10490598;10496324;10508610;10523665;10523675;10526156;10559246;10559936;10579713;10652265;10677529;10692392;10699171;10699464;10724160;10744763;10749680;10781580;10847683;10873802;10878810;10958683;10995436;10995437;11007481;11042108;11058585;11062261;11085924;11145705;11149925;11157975;11171081;11231582;11237011;11240126;11242053;11276226;11278486;11329366;11340081;11373293;11396949;11431473;11432776;11553796;11584276;11672528;11689693;11695992;11696015;11704860;11707441;11744692;11747816;11751636;11756552;11773441;11803464;11804587;11804589;11804590;11817894;11829459;11854399;11864571;11884391;11895428;11912491;11919634;11950885;11961559;11967128;12032298;12055636;12071859;12093360;12096337;12105426;12134158;12149262;12177196;12189515;12195014;12213210;12214271;12215529;12221096;12235133;12351724;12376551;12391143;12427746;12432077;12464388;12531887;12546821;12547822;12650940;12660731;12665586;12743368;12787671;12810700;12820653;12857875;12877655;12923183;1314888;14512443;14514689;14517306;1464587;14675773;14676198;14718541;14724572;15020713;15023524;15026417;15033976;15040784;15064355;15107133;15133129;15147912;15169870;15247219;15247287;15302923;15308668;15339924;15342493;15452139;15485661;15494732;15494734;15507211;15542837;15557120;15572663;15579468;15601624;15611138;15657136;15688067;15695828;15710388;15728722;15788770;15814684;15850391;15858067;15897194;15960985;15962004;16002401;16054028;16081809;16112081;16116428;16184169;16243035;16243036;16262445;1630448;16308318;16336962;16339170;16473593;16492808;16507994;16519628;16546099;1660188;16636067;16641196;16702231;16760434;16762923;16777452;16777849;16862148;16880808;16896804;16914516;16964243;16966330;16968698;17027967;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;18066058;18070890;18191593;18212043;18218625;18249095;18253061;18347018;18391171;18396277;18426980;18653540;18662984;18669648;18829532;18838382;19004829;19230644;19267251;19269969;19293402;19494238;19581409;19605563;19673492;19713215;19741094;19934221;19955216;20400958;20460433;20530532;20627800;20658524;20679435;20810653;21037092;21148482;21151158;21378159;21419341;21445309;21542010;21565175;21613211;21621533;21730051;21865595;218813;21989057;22004470;22028470;22080864;22084245;22096251;22298643;22323579;22327215;22407364;22475431;22608513;22689825;22734669;22970203;23186163;23209303;23216836;23255595;23288169;23434736;23443682;23572525;23675550;23707487;23718289;23728337;23757206;23870057;23940355;24086303;24259668;24275569;24335996;24352656;24623723;24659802;2474607;24859002;24933155;24960694;25024229;25123307;25211221;25428919;25576301;25704760;25721503;25795300;25862245;25938342;26016997;26129894;26154972;26529257;26845023;26887924;26992070;27117132;27145964;27216196;27481945;27555588;27566826;27600516;27713499;27806292;27846572;27862975;28114311;28196833;28228285;28278510;28834231;29089502;29242379;29356040;29358323;29382922;29393594;29557506;29786170;30315122;30379171;30410026;30429286;30779550;30833945;30853411;31154438;31217245;31389670;31844290;31871319;32157095;32203420;32357974;32387766;32897882;32938616;33141586;33392160;33537174;33592498;33968037;33981976;3409321;34171305;34185709;34405274;34509645;35051231;35580925;36010968;36241641;36284347;37938771;37967942;38015468;39020145;7476457;7479768;7509446;7512369;7559638;7673236;7721814;7753201;7835339;7848918;8021274;8107774;8537347;8543060;8617235;8643598;8645157;8657152;8662638;8662891;8662907;8756646;8769096;8798539;8805223;8809042;8810315;8816443;8816476;8861902;8939998;8986718;8990121;8994827;9013646;9065479;9099726;9113980;9182576;9219684;9230307;9302992;9305890;9326583;9331217;9393975;9398617;9407060;9422515;9438849;9472046;9490638;9497316;9582072;9600938;9659915;9670022;9705280;9792683;9799231;9808620;9822598;9822605;9843499;9883880;9885284;9927674;9950216;9988689", "class_list": "", "function": "DOCK1 insufficiency disrupts trophoblast function and pregnancy outcomes via DUSP4-ERK pathway. Publication Status: Online-Only, [RefSeq, PubMed]; ESRP1 controls biogenesis and function of a large abundant multiexon circRNA., [RefSeq, PubMed]; Genetic change investigation in DOCK1 gene in an Iranian family with sign and symptoms of temporomandibular joint disorder (TMD). Publication Status: Online-Only, [RefSeq, PubMed]; Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Along with DOCK1, mediates CRK/CRKL regulation of epithelial and endothelial cell spreading and migration on type IV collagen (PubMed:19004829). Functions as a guanine nucleotide exchange factor (GEF), which activates Rac Rho small GTPases by exchanging bound GDP for free GTP. Its GEF activity may be enhanced by ELMO1 (PubMed:8657152)., [UniProtKB, PubMed, PubMed]; This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]., [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": 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": 2, "reported_glycation": 0, "reported_snv": 48, "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": "A9Z1Z5", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0017124 SH3 domain binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0098794 postsynapse", "go_biological_process": "GO:0006911 phagocytosis, engulfment;GO:0007165 signal transduction;GO:0007229 integrin-mediated signaling pathway;GO:0016477 cell migration;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 46.5, "record_id": "Q14185-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N2H3-1", "uniprot_id": [ { "id": "PYRD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N2H3", "type": "external" } ], "mass": 63068.0, "length": 581, "protein_name": "Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2", "gene_name": "PYROXD2", "organism": "Human", "refseq_name": "pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2", "refseq_ac": [ { "id": "NP_116098", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116098", "type": "external" } ], "gene_names_uniprotkb": "PYROXD2; C10orf33", "gene_names_refseq": "C10orf33; FP3420; PYROXD2; YUEF", "protein_names_uniprotkb": "Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2; 1.-.-.-", "protein_names_refseq": "pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84795)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10.1074/mcp.M114.046862;11237011;16385451;25813380;25892735;28904123;29048625;29557506;30315122;31170524;31217245;33912179;35051231;35580925;39894887", "class_list": "", "function": "Data illustrated that PYROXD2 localizes to the mitochondrial inner membrane/matrix, and it plays important roles in regulating mitochondrial function., [RefSeq, PubMed]; MZF1 gene expression was not significantly correlated with PYROXD2 protein expression in the samples of resected tumor tissues, which revealed that the PYROXD2 promoter transcription activity was determined by the aggregated effect of numerous transcription factors. This finding may be helpful in understanding the underlying mechanism which regulates the PYROXD2 expression., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Probable oxidoreductase that may play a role as regulator of mitochondrial function., [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": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "D3DR61;Q5TAA9;Q9BRQ1", "ec_number_list": [], "go_molecular_function": "GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0007005 mitochondrion organization", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q8N2H3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BT88-1", "uniprot_id": [ { "id": "SYT11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BT88", "type": "external" } ], "mass": 48297.0, "length": 431, "protein_name": "Synaptotagmin-11", "gene_name": "SYT11", "organism": "Human", "refseq_name": "synaptotagmin-11", "refseq_ac": [ { "id": "NP_689493", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689493", "type": "external" } ], "gene_names_uniprotkb": "SYT11; KIAA0080", "gene_names_refseq": "SYT11; sytXI", "protein_names_uniprotkb": "Synaptotagmin-11; Synaptotagmin XI; SytXI", "protein_names_refseq": "synaptotagmin XI; synaptotagmin-11", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:23208); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 3, "publication_count": 240, "publication_id_list": "10097102;10436022;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10983987;11071885;11076969;11082044;11231140;11239472;11247302;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12086608;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12717448;12847086;12925569;12944396;12952949;12958364;1317852;14555962;14581451;14617351;14622578;14622579;14662753;14726597;15134832;15252009;15260957;15318165;15339664;15354386;1535555;15473838;15502812;15502813;15649145;15671180;15703209;15728179;15802264;15895077;15916959;16103228;16159959;16215232;16326391;16410077;16459302;16460808;16516836;16707488;16723738;16798879;16880396;16903783;17018281;17035995;17158794;17192956;17267500;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17681954;17713526;17762867;17765681;17978091;18032517;18093523;18166656;18199683;18388313;1847920;18775314;18790740;18819912;18981233;19092055;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;23536704;23823722;23861397;23891661;24130457;24186068;24366607;24384571;24581490;24680432;24746795;24789820;24966051;25107275;25303366;25341920;25502872;26042225;26154972;26403691;26829388;27278822;27846572;27920218;28218747;28467828;28832583;28834231;28904123;2890644;29242379;29393594;29437277;29493099;29508533;29557506;29632711;30315122;30410026;30429286;31154438;31844290;32157095;32350084;33298915;33592498;33912179;34078123;3417785;34357683;34433824;35051231;35154160;35753051;35768842;36170810;36787382;38890718;6146630;7569928;7822302;7877694;8524399;8552632;8553074;8837779;9092476;9100026;9169477;9303539;9427626;9428629;9635431;9723620;9736607;9812899", "class_list": "", "function": "Excessive expression of Syt11 can be associated with schizophrenia., [RefSeq, PubMed]; Impad1 and Syt11 work in an epistatic pathway that regulates EMT-mediated vesicular trafficking to drive lung cancer invasion and metastasis., [RefSeq, PubMed]; Lack of disease-causing mutations in a detailed analysis of a large sample of familial and sporadic Parkinson's disease patients argues against a major role of mutations in the synaptotagmin XI gene in PD., [RefSeq, PubMed]; Palmitoylation of the Parkinson's disease-associated protein synaptotagmin-11 links its turnover to alpha-synuclein homeostasis., [RefSeq, PubMed]; Parkin interacts with and ubiquitinates synaptotagmin XI, [RefSeq, PubMed]; Role of SYT11 in human pan-cancer using comprehensive approaches. Publication Status: Online-Only, [RefSeq, PubMed]; Synaptotagmin 11 scaffolds MKK7-JNK signaling process to promote stem-like molecular subtype gastric cancer oncogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Synaptotagmin family member involved in vesicular and membrane trafficking which does not bind Ca(2+). Inhibits clathrin-mediated and bulk endocytosis, functions to ensure precision in vesicle retrieval. Plays an important role in dopamine transmission by regulating endocytosis and the vesicle-recycling process. Essential component of a neuronal vesicular trafficking pathway that differs from the synaptic vesicle trafficking pathway but is crucial for development and synaptic plasticity. In macrophages and microglia, inhibits the conventional cytokine secretion, of at least IL6 and TNF, and phagocytosis. In astrocytes, regulates lysosome exocytosis, mechanism required for the repair of injured astrocyte cell membrane (By similarity). Required for the ATP13A2-mediated regulation of the autophagy-lysosome pathway (PubMed:27278822)., [UniProtKB, UniProtKB, PubMed]; The highly expressed calcium-insensitive synaptotagmin-11 and synaptotagmin-13 modulate insulin secretion., [RefSeq, PubMed]; This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that are known calcium sensors and mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. The encoded protein is also a substrate for ubiquitin-E3-ligase parkin. The gene has previously been referred to as synaptotagmin XII but has been renamed synaptotagmin XI to be consistent with mouse and rat official nomenclature. [provided by RefSeq, Apr 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": 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": "Q14998;Q5W0D4;Q68CT5;Q8IXU3;Q96SU2", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0031625 ubiquitin protein ligase binding;GO:0005544 calcium-dependent phospholipid binding;GO:0000149 SNARE binding", "go_cellular_component": "GO:0048787 presynaptic active zone membrane;GO:0001891 phagocytic cup;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0030424 axon", "go_biological_process": "GO:0001778 plasma membrane repair;GO:1903979 negative regulation of microglial cell activation;GO:0045806 negative regulation of endocytosis;GO:0007612 learning;GO:0007613 memory", "synthesized_glycan_count": 0, "hit_score": 24.1, "record_id": "Q9BT88-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96K80-1", "uniprot_id": [ { "id": "ZC3HA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96K80", "type": "external" } ], "mass": 46052.0, "length": 434, "protein_name": "Zinc finger CCCH domain-containing protein 10", "gene_name": "ZC3H10", "organism": "Human", "refseq_name": "zinc finger CCCH domain-containing protein 10", "refseq_ac": [ { "id": "NP_001290053", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290053", "type": "external" } ], "gene_names_uniprotkb": "ZC3H10; ZC3HDC10", "gene_names_refseq": "ZC3H10; ZC3HDC10", "protein_names_uniprotkb": "Zinc finger CCCH domain-containing protein 10", "protein_names_refseq": "zinc finger CCCH domain-containing protein 10; zinc finger CCCH-type domain containing 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:84872)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;18814840;19240061;19413330;21740066;23481700;25576301;27846572;28228285;28431233;28446606;28514659;28832583;28904123;29242379;29485866;29507079;29557506;29786170;30397120;30429286;30524438;31092671;31154438;31775033;31844290;31848261;31953347;32161166;32938616;33141586;33214551;33298915;33968037;34019948;35051231;35138101;35580925;36010968;38665916;39534244", "class_list": "", "function": "A HOTAIR regulatory element modulates glioma cell sensitivity to temozolomide through long-range regulation of multiple target genes., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Our study identifies Zc3h10 as a novel mitochondrial regulator., [RefSeq, PubMed]; Specific regulator of miRNA biogenesis. Binds, via the C3H1-type zinc finger domains, to the binding motif 5'-GCAGCGC-3' on microRNA pri-MIR143 and negatively regulates the processing to mature microRNA., [UniProtKB, PubMed]; ZC3H10 inhibits the anchorage independent growth of tumor cells, which is consistent with a tumor suppressor function., [RefSeq, PubMed]; Zc3h10 Acts as a Transcription Factor and Is Phosphorylated to Activate the Thermogenic Program., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 3, "reported_glycation": 0, "reported_snv": 12, "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:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0035198 miRNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:1903799 negative regulation of miRNA processing;GO:0010608 post-transcriptional regulation of gene expression;GO:0043484 regulation of RNA splicing", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q96K80-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HE7-1", "uniprot_id": [ { "id": "ERO1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HE7", "type": "external" } ], "mass": 54393.0, "length": 468, "protein_name": "ERO1-like protein alpha", "gene_name": "ERO1A", "organism": "Human", "refseq_name": "ERO1-like protein alpha isoform 2 precursor", "refseq_ac": [ { "id": "NP_055399", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055399", "type": "external" } ], "gene_names_uniprotkb": "ERO1A; ERO1L; PRO865", "gene_names_refseq": "ERO1-L-alpha; ERO1-L; ERO1-alpha; ERO1A; ERO1LA; ERO1L; Ero1alpha", "protein_names_uniprotkb": "ERO1-like protein alpha; 1.8.3.2; ERO1-L-alpha; ERO1-L; Endoplasmic oxidoreductin-1-like protein; Endoplasmic reticulum oxidoreductase alpha; Oxidoreductin-1-L-alpha", "protein_names_refseq": "ERO1-like protein alpha isoform 2 precursor; ERO1-like protein alpha; endoplasmic oxidoreductin-1-like protein; endoplasmic reticulum oxidoreductase alpha; oxidoreductin-1-L-alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:30001); (R-HSA-3299685)", "pathway_count": 2, "publication_count": 159, "publication_id_list": "10.1101/2023.09.13.557529;10029572;10514471;10521424;10656833;10671517;10818100;10833429;10919671;10970843;10982;11018045;11139407;11237011;11507097;11518528;11707280;11707400;11847130;11886899;11912930;12403808;12446202;12752442;12829378;12975309;14517240;15044467;15046979;15064408;15136577;15161913;15280035;15317809;15475357;15596429;15927447;16401067;16615992;1668270;16750198;16880213;17275676;17519234;1763037;17707404;18358825;18703498;18833192;18936159;18971943;19159218;19219623;19542232;1999334;20068231;20070187;20367259;20690882;2071038;20834232;21091435;21215271;21385867;21393238;21967640;22493009;22869735;22910329;23027870;23090970;23152058;23164639;23186163;23301498;23454490;23455484;23481700;24190977;24275569;25047527;25645385;26154972;26853435;26992070;27090790;27600516;28218747;28228285;28467828;28832583;28834231;29242379;29437277;29557506;29632711;29741879;29789417;29858230;30315122;30429286;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33123756;33141586;33717175;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;3457020;34725712;34932366;35051231;35154160;35251023;35254053;3532102;35580925;3619451;36284347;3693360;37074911;37769655;37776473;37938771;38402623;38454454;38665916;40596516;40914422;5389100;60;6286671;6961438;7021796;7172448;7487923;807573;8379940;8428933;8452552;8663465;9295278;9369223;9639555;9726962;9923614", "class_list": "", "function": "Ablation of ERO1A induces lethal endoplasmic reticulum stress responses and immunogenic cell death to activate anti-tumor immunity., [RefSeq, PubMed]; Biological mechanisms and clinical significance of endoplasmic reticulum oxidoreductase 1 alpha (ERO1alpha) in human cancer. Review article Publication Status: Online-Only, [RefSeq, PubMed]; ERO1alpha promotes the proliferation and inhibits apoptosis of colorectal cancer cells by regulating the PI3K/AKT pathway., [RefSeq, PubMed]; Oxidoreductase involved in disulfide bond formation in the endoplasmic reticulum. Efficiently reoxidizes P4HB/PDI, the enzyme catalyzing protein disulfide formation, in order to allow P4HB to sustain additional rounds of disulfide formation. Following P4HB reoxidation, passes its electrons to molecular oxygen via FAD, leading to the production of reactive oxygen species (ROS) in the cell. Required for the proper folding of immunoglobulins (PubMed:29858230). Plays an important role in ER stress-induced, CHOP-dependent apoptosis by activating the inositol 1,4,5-trisphosphate receptor IP3R1. Involved in the release of the unfolded cholera toxin from reduced P4HB/PDI in case of infection by V.cholerae, thereby playing a role in retrotranslocation of the toxin., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA., [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": 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": 20, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 26, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K9X4;A8MYW1;Q7LD45;Q9P1Q9;Q9UKV6", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" } ], "go_molecular_function": "GO:0071949 FAD binding;GO:0015035 protein-disulfide reductase activity;GO:0016971 flavin-dependent sulfhydryl oxidase activity;GO:0016972 thiol oxidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005796 Golgi lumen;GO:0016020 membrane", "go_biological_process": "GO:0071456 cellular response to hypoxia;GO:0009266 response to temperature stimulus;GO:0051209 release of sequestered calcium ion into cytosol;GO:0006457 protein folding;GO:0045454 cell redox homeostasis", "synthesized_glycan_count": 0, "hit_score": 18.8, "record_id": "Q96HE7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78368-1", "uniprot_id": [ { "id": "KC1G2_HUMAN", "url": "https://www.uniprot.org/uniprot/P78368", "type": "external" } ], "mass": 47457.0, "length": 415, "protein_name": "Casein kinase I isoform gamma-2", "gene_name": "CSNK1G2", "organism": "Human", "refseq_name": "casein kinase I isoform gamma-2", "refseq_ac": [ { "id": "NP_001310", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310", "type": "external" } ], "gene_names_uniprotkb": "CSNK1G2; CK1G2", "gene_names_refseq": "CK1g2; CSNK1G2", "protein_names_uniprotkb": "Casein kinase I isoform gamma-2; 2.7.11.1; CKI-gamma 2", "protein_names_refseq": "CKI-gamma 2; casein kinase I isoform gamma-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:1455); (R-HSA-1660661); (R-HSA-4641262)", "pathway_count": 3, "publication_count": 125, "publication_id_list": "10421629;10428961;10481074;10581160;10684251;10698523;10722674;10751414;10802064;10947957;11237011;11336703;11707456;11738041;11861647;11937514;12554650;14685229;14685263;14731402;14976195;15063729;15073180;15077195;15084453;15328338;15337768;15681612;15917222;16082208;16100120;16118219;16341016;16341017;16571669;16793762;16890161;16895911;17023427;17050692;17143292;17318175;17331073;17344846;17355976;17449912;17529994;17569865;17591919;17982138;18077588;18165232;18165233;18184806;18339531;18362152;18606139;18691976;18794808;19005213;19054851;19061640;19107203;19233134;19416851;19506037;19619488;19802005;20061445;20068231;20110355;20182505;21183070;21183076;21252990;21620961;22517924;22970244;23074275;23180825;23256519;23602659;23754960;24569996;24782409;25502872;25788259;26481050;26992070;28467828;28575652;28904123;29314611;29371260;29557506;29563527;29632046;31844290;31895563;32350084;33392160;33592498;33861751;33912179;33981976;34171305;34185709;34357683;34561969;35409383;36284347;36902339;36907437;37099597;37224812;37390971;4339164;4817756;9034327;9188692;9312549;9363775;9403068;9482734;9635432", "class_list": "", "function": "CSNK1G2 differently sensitizes tamoxifen-induced decrease in PI3K/AKT/mTOR/S6K and ERK signaling according to the estrogen receptor existence in breast cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling (By similarity). Phosphorylates COL4A3BP/CERT, MTA1 and SMAD3. SMAD3 phosphorylation promotes its ligand-dependent ubiquitination and subsequent proteasome degradation, thus inhibiting SMAD3-mediated TGF-beta responses. Hyperphosphorylation of the serine-repeat motif of COL4A3BP/CERT leads to its inactivation by dissociation from the Golgi complex, thus down-regulating ER-to-Golgi transport of ceramide and sphingomyelin synthesis. Triggers PER1 proteasomal degradation probably through phosphorylation (PubMed:15077195, PubMed:15917222, PubMed:18794808, PubMed:19005213). Involved in brain development and vesicular trafficking and neurotransmitter releasing from small synaptic vesicles. Regulates fast synaptic transmission mediated by glutamate (By similarity). Involved in regulation of reactive oxygen species (ROS) levels (PubMed:37099597)., [UniProtKB, 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": 5, "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": "B5BU42;O00704;Q8WUB1", "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:0004672 protein kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005938 cell cortex", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0006897 endocytosis;GO:0007165 signal transduction;GO:0030148 sphingolipid biosynthetic process;GO:0016055 Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "P78368-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15185-1", "uniprot_id": [ { "id": "TEBP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15185", "type": "external" } ], "mass": 18697.0, "length": 160, "protein_name": "Prostaglandin E synthase 3", "gene_name": "PTGES3", "organism": "Human", "refseq_name": "prostaglandin E synthase 3 isoform e", "refseq_ac": [ { "id": "NP_001269533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269533", "type": "external" } ], "gene_names_uniprotkb": "PTGES3; P23; TEBP", "gene_names_refseq": "P23; PTGES3; TEBP; cPGES", "protein_names_uniprotkb": "Prostaglandin E synthase 3; 5.3.99.3; Cytosolic prostaglandin E2 synthase; Hsp90 co-chaperone; Progesterone receptor complex p23; Telomerase-binding protein p23; cPGES", "protein_names_refseq": "Hsp90 co-chaperone; cytosolic prostaglandin E synthase; cytosolic prostaglandin E2 synthase; progesterone receptor complex p23; prostaglandin E synthase 3 (cytosolic); prostaglandin E synthase 3 isoform e; telomerase-binding protein p23; unactive progesterone receptor, 23 kD", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612); atherosclerosis (Disease Ontology:DOID:1936); oligodendroglioma (Disease Ontology:DOID:3181)", "pathway": " (hsa:10728); (R-HSA-2162123); (R-HSA-3371497); (R-HSA-3371511); (R-HSA-3371568); (R-HSA-8937144); (R-HSA-8939211); (R-HSA-9018519); (R-HSA-9679191)", "pathway_count": 9, "publication_count": 394, "publication_id_list": "10087012;10207098;10377455;10409767;10485477;10500157;10588810;10622721;10747884;10811660;10822011;10828826;10873660;10922363;10966456;11010967;11034064;11103799;11136970;11150164;11162936;11165043;11237011;11250728;11259606;11274138;11297515;11345900;11410592;11452016;11465543;11478682;11581164;11583998;11589254;11672424;11682626;11701661;11751894;11795466;12077419;12118371;12498683;12573486;12612073;12627223;12672240;12781197;12835322;12943986;12959972;13486053;1380156;14605097;14631847;14654843;14675539;1493716;14979715;15001666;15040786;15047184;15094156;15115769;15159550;15276198;15282324;15343269;15345050;15381148;15514030;15591061;15702990;15986123;16009131;16046058;1607379;16087863;16094384;16113099;16115318;1628823;1630819;16403413;16475787;16522641;16807684;16809759;16828555;16980581;17013392;17081983;1720327;17277772;17287340;1730655;17449869;17463000;17487921;17495528;17510434;17591767;17615152;17637753;17641676;17662961;17666587;17690249;17785525;17804755;17873880;17980155;18000031;18006499;18088087;18166671;18187655;18215318;18219272;18243712;18254226;18256232;18318008;18322535;18358809;18451092;18476782;18493841;18510355;18533032;18540824;18635947;18669648;18682561;18691976;18707149;18762174;18767875;18805503;18848529;19000823;19001364;19020303;19098913;19229036;19274700;19295514;19321454;19359544;19367720;19369195;19383337;19413330;19415658;19608861;19651622;19664995;19690332;19718048;20006655;20036328;20038533;20058876;20068231;20072699;20166139;20187088;20219941;20220130;20223979;20353944;20379036;20498280;20570965;20667974;20682797;20950588;21106759;21151129;21158691;21183720;21376746;21406692;21445275;21467029;21573489;21700222;21796517;2181374;21835891;21878914;21934649;21940756;22011577;22056668;22265404;22266222;22318716;22393957;22401777;22433123;22451931;22492511;22545144;22552008;22704330;22759865;22791416;22814904;23145106;23172872;23186163;23192763;23301498;23303788;23375374;23403292;23435229;23641311;23684889;23723241;23850489;23906331;24012426;24071518;24167369;24272870;24275569;24288332;24366607;24371278;24584101;24694367;24711448;24735615;24854081;24885040;24973012;24998469;25296600;25303530;25365482;25418920;25433557;25500870;25542856;25597633;25633194;25663755;25674852;25728767;25801024;26002965;26056233;26073023;26153859;26154972;26203193;26204489;26313416;26462610;26479350;26610607;26811146;26929215;27062924;27353360;27462449;27663436;27886276;28083797;28228285;28301631;28425720;28510447;28539435;28755533;28832583;28863261;28904123;28919297;29127155;2919170;29242379;29393594;29632046;29945920;30197098;30201761;30315122;3045126;30779550;31048504;31110491;31141847;3167974;31731497;31826031;31844290;32016915;32119511;32157095;32320027;32350084;32357974;32448030;32544881;3281094;32982970;32983136;33214551;33298915;33537174;33592498;33717175;33968037;34019948;34561969;34725712;3498214;35083852;35132862;35138101;35580925;36284347;36520307;3677090;37416927;38245717;3862115;38665916;3954355;40930100;4514999;4521806;4776443;5284360;6201744;6645495;6891012;7005231;7552725;7559524;7689695;7784095;7892243;7906860;7925341;7935485;7937828;7947975;7961644;7984152;8065924;8114727;8157723;8175750;8180109;8195246;8197458;8221895;8232319;8282004;8327492;8419924;8455624;8560673;8641283;8876171;8901870;9048584;9115298;9139685;9183567;9201922;9219313;9222609;9295332;9338790;9346945;9388265;9447995;9464360;9464361;9499401;9611253;9626023;9649501;9667968;9671459;9707442;9727490;9731700;9817749", "class_list": "", "function": "Cytosolic prostaglandin synthase that catalyzes the oxidoreduction of prostaglandin endoperoxide H2 (PGH2) to prostaglandin E2 (PGE2) (PubMed:10922363). 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 (PubMed:11274138, PubMed:12077419). Facilitates HIF alpha proteins hydroxylation via interaction with EGLN1/PHD2, leading to recruit EGLN1/PHD2 to the HSP90 pathway (PubMed:24711448)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Effect of PTGES3 on the Prognosis and Immune Regulation in Lung Adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; P23 and Aha1: Distinct Functions Promote Client Maturation. Review article, [RefSeq, PubMed]; The integration of multidisciplinary approaches revealed PTGES3 as a novel drug target for breast cancer treatment. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an enzyme that converts prostaglandin endoperoxide H2 (PGH2) to prostaglandin E2 (PGE2). This protein functions as a co-chaperone with heat shock protein 90 (HSP90), localizing to response elements in DNA and disrupting transcriptional activation complexes. Alternative splicing results in multiple transcript variants. There are multiple pseudogenes of this gene on several different chromosomes. [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": 10, "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": "A8K7D0;B4DHP2;B4DP11;B4DP21;Q8WU70", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "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" }, { "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": "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": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" } ], "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0051087 protein-folding chaperone binding;GO:0070182 DNA polymerase binding;GO:0051879 Hsp90 protein binding;GO:0050220 prostaglandin-E synthase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0032991 protein-containing complex;GO:0005697 telomerase holoenzyme complex", "go_biological_process": "GO:0007165 signal transduction;GO:0000723 telomere maintenance;GO:0032212 positive regulation of telomere maintenance via telomerase;GO:0050821 protein stabilization;GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 39.7, "record_id": "Q15185-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TCY5-4", "uniprot_id": [ { "id": "MRAP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TCY5", "type": "external" } ], "mass": 19136.0, "length": 172, "protein_name": "Melanocortin-2 receptor accessory protein", "gene_name": "MRAP", "organism": "Human", "refseq_name": "melanocortin-2 receptor accessory protein isoform c", "refseq_ac": [ { "id": "NP_001272323", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001272323", "type": "external" } ], "gene_names_uniprotkb": "MRAP; C21orf61; FALP", "gene_names_refseq": "B27; C21orf61; FALP; GCCD2; MRAP1; MRAP", "protein_names_uniprotkb": "Melanocortin-2 receptor accessory protein; B27; Fat cell-specific low molecular weight protein; Fat tissue-specific low MW protein", "protein_names_refseq": "fat cell-specific low molecular weight protein; fat tissue-specific low MW protein; melanocortin-2 receptor accessory protein isoform c", "tax_id": 9606, "disease": "glucocorticoid deficiency 2 (Disease Ontology:DOID:0061242); familial glucocorticoid deficiency (Disease Ontology:DOID:0080620); adrenal gland disease (Disease Ontology:DOID:9553)", "pathway": " (hsa:56246)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "12036298;12054497;15654338;17456795;17893271;18077336;18818285;19329486;20371771;28760704;29217655", "class_list": "", "function": "Allele of the 5 insertion/deletion polymorphism in the Alpha-2-MRAP gene is related with an increase of oxidative stress in nephrolithiasis patients, [RefSeq, PubMed]; Data (including data from studies in transgenic mice) suggest that MRAP plays critical role in (1) regulation of lipolysis in adipose tissue, (2) regulation of enzyme expression in adipose tissue, and (3) whole-body energy balance., [RefSeq, PubMed]; Familial glucocorticoid deficiency type 2, confirmed by a mutation of the MRAP gene., [RefSeq, PubMed]; MC2R-green fluorescent protein fusion transfected with either MRAPalpha or MRAPbeta was impaired both in cell membrane localization and signaling., [RefSeq, PubMed]; MRAP is the first eukaryotic membrane protein identified with an antiparallel homodimeric structure., [RefSeq, PubMed]; Modulator of melanocortin receptors (MC1R, MC2R, MC3R, MC4R and MC5R). Acts by increasing ligand-sensitivity of melanocortin receptors and enhancing generation of cAMP by the receptors. Required both for MC2R trafficking to the cell surface of adrenal cells and for signaling in response to corticotropin (ACTH). May be involved in the intracellular trafficking pathways in adipocyte cells., [UniProtKB, PubMed, PubMed, PubMed]; The transmembrane domain of MRAP is the MC2R interaction domain and a conserved N-terminal tyrosine-rich domain of MRAP is required for trafficking MC2R to the cell surface., [RefSeq, PubMed]; This gene encodes a melanocortin receptor-interacting protein. The encoded protein regulates trafficking and function of the melanocortin 2 receptor in the adrenal gland. The encoded protein can also modulate signaling of other melanocortin receptors. Mutations in this gene have been associated with familial glucocorticoid deficiency type 2. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]., [RefSeq]; We identified mutations in a protein, now known as melanocortin 2 receptor accessory protein (MRAP). We show that MRAP interacts with MC2R and may have a role in the trafficking of MC2R from the endoplasmic reticulum to the cell surface., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5EBR3;Q8TDB7;Q8WXC1;Q8WXC2", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0031781 type 3 melanocortin receptor binding;GO:0031782 type 4 melanocortin receptor binding;GO:0070996 type 1 melanocortin receptor binding;GO:0031780 corticotropin hormone receptor binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:1903077 negative regulation of protein localization to plasma membrane;GO:0106071 positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0106072 negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0106070 regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8TCY5-4", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4U2R8-1", "uniprot_id": [ { "id": "S22A6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4U2R8", "type": "external" } ], "mass": 61816.0, "length": 563, "protein_name": "Solute carrier family 22 member 6", "gene_name": "SLC22A6", "organism": "Human", "refseq_name": "solute carrier family 22 member 6 isoform a", "refseq_ac": [ { "id": "NP_004781", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004781", "type": "external" } ], "gene_names_uniprotkb": "SLC22A6; OAT1; PAHT", "gene_names_refseq": "HOAT1; OAT1; PAHT; ROAT1; SLC22A6", "protein_names_uniprotkb": "Solute carrier family 22 member 6; Organic anion transporter 1; PAH transporter; Renal organic anion transporter 1; hOAT1; hPAHT; hROAT1", "protein_names_refseq": "PAH transporter; hPAHT; hROAT1; para-aminohippurate transporter; renal organic anion transporter 1; solute carrier family 22 (organic anion transporter), member 6; solute carrier family 22 member 6 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:9356); (R-HSA-561048)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10049739;10462545;10660625;10964714;11237011;11327718;11669456;11907186;12024214;12538807;14586168;14675047;14749323;15037815;15145940;15634722;15644426;15901346;15914676;16164626;17038320;17502342;22108572;22299025;23481700;23832370;25645385;26377792;28534121;31844290;32387766;32488085;32818533;35051231;35307651;35406626;36316339;36692015;9762842;9887087;9950961", "class_list": "", "function": "Drug transporters OAT1 and OAT3 have specific effects on multiple organs and gut microbiome as revealed by contextualized metabolic network reconstructions. Publication Status: Online-Only, [RefSeq, PubMed]; Functional Characterization of Rare Variants in OAT1/SLC22A6 and OAT3/SLC22A8 Urate Transporters Identified in a Gout and Hyperuricemia Cohort. Publication Status: Online-Only, [RefSeq, PubMed]; Secondary active transporter that functions as a Na(+)-independent organic anion (OA)/dicarboxylate antiporter where the uptake of one molecule of OA into the cell is coupled with an efflux of one molecule of intracellular dicarboxylate such as 2-oxoglutarate or glutarate (PubMed:11669456, PubMed:11907186, PubMed:14675047, PubMed:22108572, PubMed:23832370, PubMed:28534121, PubMed:9950961). Mediates the uptake of OA across the basolateral side of proximal tubule epithelial cells, thereby contributing to the renal elimination of endogenous OA from the systemic circulation into the urine (PubMed:9887087). Functions as a biopterin transporters involved in the uptake and the secretion of coenzymes tetrahydrobiopterin (BH4), dihydrobiopterin (BH2) and sepiapterin to urine, thereby determining baseline levels of blood biopterins (PubMed:28534121). Transports prostaglandin E2 (PGE2) and prostaglandin F2-alpha (PGF2-alpha) and may contribute to their renal excretion (PubMed:11907186). Also mediates the uptake of cyclic nucleotides such as cAMP and cGMP (PubMed:26377792). Involved in the transport of neuroactive tryptophan metabolites kynurenate (KYNA) and xanthurenate (XA) and may contribute to their secretion from the brain (PubMed:22108572, PubMed:23832370). May transport glutamate (PubMed:26377792). Also involved in the disposition of uremic toxins and potentially toxic xenobiotics by the renal organic anion secretory pathway, helping reduce their undesired toxicological effects on the body (PubMed:11669456, PubMed:14675047). Uremic toxins include the indoxyl sulfate (IS), hippurate/N-benzoylglycine (HA), indole acetate (IA), 3-carboxy-4- methyl-5-propyl-2-furanpropionate (CMPF) and urate (PubMed:14675047, PubMed:26377792). Xenobiotics include the mycotoxin ochratoxin (OTA) (PubMed:11669456). May also contribute to the transport of organic compounds in testes across the blood-testis-barrier (PubMed:35307651)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The kidney drug transporter OAT1 regulates gut microbiome-dependent host metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and may be localized to the basolateral membrane. Four transcript variants encoding four different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Ubiquitin-specific peptidase 8 regulates the trafficking and stability of the human organic anion transporter 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": 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": 6, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8MY93;B2D0R6;O95187;O95742;Q7LDA0;Q8N192;Q9NQA6;Q9NQC2;Q9UBG6;Q9UEQ8", "ec_number_list": [], "go_molecular_function": "GO:0015139 alpha-ketoglutarate transmembrane transporter activity;GO:0042910 xenobiotic transmembrane transporter activity;GO:0022857 transmembrane transporter activity;GO:0015297 antiporter activity;GO:0005452 solute:inorganic anion antiporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0070062 extracellular exosome;GO:0005901 caveola;GO:0009925 basal plasma membrane", "go_biological_process": "GO:0072237 metanephric proximal tubule development;GO:0051260 protein homooligomerization;GO:0015711 organic anion transport;GO:0043252 sodium-independent organic anion transport;GO:0015742 alpha-ketoglutarate transport", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q4U2R8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96S15-1", "uniprot_id": [ { "id": "WDR24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96S15", "type": "external" } ], "mass": 88207.0, "length": 790, "protein_name": "GATOR2 complex protein WDR24", "gene_name": "WDR24", "organism": "Human", "refseq_name": "GATOR2 complex protein WDR24", "refseq_ac": [ { "id": "NP_115635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115635", "type": "external" } ], "gene_names_uniprotkb": "WDR24; C16orf21; JFP7", "gene_names_refseq": "C16orf21; JFP7; WDR24", "protein_names_uniprotkb": "GATOR2 complex protein WDR24; 2.3.2.27; WD repeat-containing protein 24", "protein_names_refseq": "GATOR complex protein WDR24; GATOR2 complex protein WDR24; WD repeat-containing protein 24", "tax_id": 9606, "disease": "", "pathway": " (hsa:84219); (R-HSA-9639288)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10.1101/2023.09.13.557529;11230166;11237011;15854902;15878852;16098514;17470430;18497260;18604198;19690332;20381137;22053050;22575674;22980980;23186163;23723238;24081491;24095279;24275569;25259925;25263562;25457612;25561175;25567906;25819761;26449471;26586190;26972053;27166823;27308486;27487210;27648300;28066558;28199306;28199315;29053970;29056322;29123071;29236692;29557506;30061680;30181260;30429286;30651352;31844290;32157095;32265295;32357974;32387766;32488085;32938616;33298915;33912179;33968037;34087483;34185709;34509645;35051231;35494241;35580925;35831510;36215666;36284347;36528027;36732624;36995937;37938771;38253038;7499430", "class_list": "", "function": "CDK5-PRMT1-WDR24 signaling cascade promotes mTORC1 signaling and tumor growth., [RefSeq, PubMed]; Catalytic component of the GATOR2 complex, a multiprotein complex that acts as an activator of the amino acid-sensing branch of the mTORC1 signaling pathway (PubMed:23723238, PubMed:26449471, PubMed:26586190, PubMed:27487210, PubMed:35831510, PubMed:36528027, PubMed:36732624). The GATOR2 complex indirectly activates mTORC1 through the inhibition of the GATOR1 subcomplex (PubMed:23723238, PubMed:26449471, PubMed:26586190, PubMed:27487210, PubMed:35831510, PubMed:36528027, PubMed:36732624). GATOR2 probably acts as an E3 ubiquitin-protein ligase toward GATOR1 (PubMed:36528027, PubMed:36732624). In the presence of abundant amino acids, the GATOR2 complex mediates ubiquitination of the NPRL2 core component of the GATOR1 complex, leading to GATOR1 inactivation (PubMed:36528027, PubMed:36732624). In the absence of amino acids, GATOR2 is inhibited, activating the GATOR1 complex (PubMed:26449471, PubMed:26586190, PubMed:27487210). In addition to its role in regulation of the mTORC1 complex, promotes the acidification of lysosomes and facilitates autophagic flux (PubMed:27166823). Within the GATOR2 complex, WDR24 constitutes the catalytic subunit that mediates 'Lys-6'-linked ubiquitination of NPRL2 (PubMed:36528027, PubMed:36732624)., [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": 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": 5, "reported_glycation": 0, "reported_snv": 22, "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": "A2IDB8;D3DU59;Q96GC7;Q9H0B7", "ec_number_list": [ { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "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": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "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" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005765 lysosomal membrane;GO:0005774 vacuolar membrane;GO:0061700 GATOR2 complex", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0010506 regulation of autophagy;GO:0072659 protein localization to plasma membrane;GO:0006914 autophagy;GO:0031669 cellular response to nutrient levels", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q96S15-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UN37-1", "uniprot_id": [ { "id": "VPS4A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UN37", "type": "external" } ], "mass": 48898.0, "length": 437, "protein_name": "Vacuolar protein sorting-associated protein 4A", "gene_name": "VPS4A", "organism": "Human", "refseq_name": "vacuolar protein sorting-associated protein 4A", "refseq_ac": [ { "id": "NP_037377", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037377", "type": "external" } ], "gene_names_uniprotkb": "VPS4A; VPS4", "gene_names_refseq": "CIMDAG; SKD1A; SKD1; SKD2; VPS4-1; VPS4A; VPS4", "protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 4A; 3.6.4.6; Protein SKD2; VPS4-1; hVPS4", "protein_names_refseq": "SKD1-homolog; hVPS4; vacuolar protein sorting factor 4A; vacuolar protein sorting-associated protein 4A; vacuolar sorting protein 4", "tax_id": 9606, "disease": "attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome (MONDO:MONDO:0035819)", "pathway": " (hsa:27183); (R-HSA-162588); (R-HSA-917729); (R-HSA-9610379); (R-HSA-9668328)", "pathway_count": 5, "publication_count": 109, "publication_id_list": "10.1101/2023.09.13.557529;10637304;10931946;11237011;11559748;11563910;11595185;12594041;14505570;14519844;14624836;15075231;15218037;15473846;16174732;16193069;16371348;16973552;17853893;17928862;18606141;18997780;19129479;19129480;19527882;19608861;19640981;19651622;21543490;21654843;21757351;22660413;22762019;23266279;23301498;23305486;24616531;24814515;25356899;25418920;25576301;25645385;25892735;26040712;26040713;26154972;26375851;26929215;26992070;27397612;27846572;27920218;28218747;28228285;28242692;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30513301;30573663;30779550;30833945;31154438;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32897882;32938616;33186543;33186545;33298915;33460484;33592498;33717175;33912179;33936100;33968037;34019948;34171305;34357683;34509645;35051231;35251023;35318648;35561310;35580925;36010968;36042696;36215666;37931722;37938771;38687820;40914422", "class_list": "", "function": "(Microbial infection) In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Analysis of individual HIV-1 budding event using fast AFM reveals a multiplexed role for VPS4., [RefSeq, PubMed]; CHMP4B and VSP4A reverse GSDMD-mediated pyroptosis by cell membrane remodeling in endometrial carcinoma., [RefSeq, PubMed]; Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. It is required for proper accomplishment of various processes including the regulation of endosome size, primary cilium organization, mitotic spindle organization, chromosome segregation, and nuclear envelope sealing and spindle disassembly during anaphase (PubMed:33186545). Involved in cytokinesis: retained at the midbody by ZFYVE19/ANCHR and CHMP4C until abscission checkpoint signaling is terminated at late cytokinesis. It is then released following dephosphorylation of CHMP4C, leading to abscission (PubMed:24814515). VPS4A/B are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). Critical for normal erythroblast cytokinesis and correct erythropoiesis (PubMed:33186543)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The human AAA-ATPase VPS4A isoform and its co-factor VTA1 have a unique function in regulating mammalian cytokinesis abscission. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18. [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": 2, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RCB7;Q8TF07;Q9UI03;Q9Y582", "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": "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": "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": "2.7.11.1", "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": "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": "3.4.24.-", "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": "5.6.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.1", "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:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0044877 protein-containing complex binding;GO:0140545 ATP-dependent protein disaggregase activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005769 early endosome", "go_biological_process": "GO:0001778 plasma membrane repair;GO:0031468 nuclear membrane reassembly;GO:0036258 multivesicular body assembly;GO:0039702 viral budding via host ESCRT complex;GO:0071985 multivesicular body sorting pathway", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q9UN37-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BV97-3", "uniprot_id": [ { "id": "ZN747_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BV97", "type": "external" } ], "mass": 36399.0, "length": 330, "protein_name": "Zinc finger protein 747", "gene_name": "ZNF747", "organism": "Human", "refseq_name": "zinc finger protein 747 isoform 1", "refseq_ac": [ { "id": "NP_001291947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291947", "type": "external" } ], "gene_names_uniprotkb": "ZNF747", "gene_names_refseq": "ZNF747", "protein_names_uniprotkb": "Zinc finger protein 747", "protein_names_refseq": "KRAB domain-containing protein ZNF747; zinc finger protein 747 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:65988); (R-HSA-212436)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;26758079;28514659;28649982;8183939;8769649;9637681;9653119", "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": "A8K827;B7WNU3;B7Z5R0;Q59FB4;Q96NW0", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9BV97-3", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4A6-1", "uniprot_id": [ { "id": "GOLP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4A6", "type": "external" } ], "mass": 33811.0, "length": 298, "protein_name": "Golgi phosphoprotein 3", "gene_name": "GOLPH3", "organism": "Human", "refseq_name": "Golgi phosphoprotein 3", "refseq_ac": [ { "id": "NP_071413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071413", "type": "external" } ], "gene_names_uniprotkb": "GOLPH3; GPP34", "gene_names_refseq": "GOLPH3; GOPP1; GPP34; MIDAS; Vps74", "protein_names_uniprotkb": "Golgi phosphoprotein 3; Coat protein GPP34; MIDAS; Mitochondrial DNA absence factor", "protein_names_refseq": "Golgi phosphoprotein 3; coat protein GPP34; coat-protein; golgi peripheral membrane protein 1, 34 kDa; golgi protein; golgi-associated protein; mitochondrial DNA absence factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:64083)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "11042173;11237011;16263763;18212344;19553991;19624311;19837035;20026658;20112406;21406692;22745132;22889169;23027862;23345592;23500462;23990465;24275569;24397554;24714562;27397612;27600516;27862975;27920218;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29769354;29786170;30429286;31217245;31611695;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33592498;33717175;33912179;33968037;34087483;34171305;34509645;34932366;35051231;35251023;35580925;36215666;36241641;36284347;36581221;36967990;37508488;37945014;38390729;38391929;40914422", "class_list": "", "function": "GOLPH3 Participates in Mitochondrial Fission and Is Necessary to Sustain Bioenergetic Function in MDA-MB-231 Breast Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; GOLPH3 links the Golgi network to mTOR signaling and human cancer, [RefSeq, PubMed]; GOLPH3 modulates expression and alternative splicing of transcription factors associated with endometrial decidualization in human endometrial stromal cells. Publication Status: Online-Only, [RefSeq, PubMed]; GOLPH3 promotes tumor malignancy via inhibition of ferroptosis by upregulating SLC7A11 in cholangiocarcinoma., [RefSeq, PubMed]; Gain- and loss-of-function studies in vitro and in vivo validated GOLPH3 as a potent oncogene, [RefSeq, PubMed]; Golgi Apparatus Target Proteins in Gastroenterological Cancers: A Comprehensive Review of GOLPH3 and GOLGA Proteins. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Golgi Phosphoprotein 3 Promotes Cervical Cancer Progression via Wnt/beta-catenin Mediated Epithelial-Mesenchymal Transition., [RefSeq, PubMed]; MIDAS/GPP34 is involved in the regulation of mitochondrial lipids, leading to increases of total mitochondrial mass in response to mitochondrial dysfunction., [RefSeq, PubMed]; Phosphatidylinositol-4-phosphate-binding protein that links Golgi membranes to the cytoskeleton and may participate in the tensile force required for vesicle budding from the Golgi. Thereby, may play a role in Golgi membrane trafficking and could indirectly give its flattened shape to the Golgi apparatus. May also bind to the coatomer to regulate Golgi membrane trafficking. May play a role in anterograde transport from the Golgi to the plasma membrane and regulate secretion. Has also been involved in the control of the localization of Golgi enzymes through interaction with their cytoplasmic part. May play an indirect role in cell migration. Has also been involved in the modulation of mTOR signaling. May also be involved in the regulation of mitochondrial lipids biosynthesis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a peripheral membrane protein of the Golgi stack and may have a regulatory role in Golgi trafficking. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q9UIW5", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding;GO:0070273 phosphatidylinositol-4-phosphate binding;GO:0140312 cargo adaptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space;GO:0005768 endosome;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0072752 cellular response to rapamycin;GO:0045053 protein retention in Golgi apparatus;GO:0090164 asymmetric Golgi ribbon formation;GO:0016477 cell migration;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9H4A6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P81605-1", "uniprot_id": [ { "id": "DCD_HUMAN", "url": "https://www.uniprot.org/uniprot/P81605", "type": "external" } ], "mass": 11284.0, "length": 110, "protein_name": "Dermcidin", "gene_name": "DCD", "organism": "Human", "refseq_name": "dermcidin isoform 2 preproprotein", "refseq_ac": [ { "id": "NP_001287783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287783", "type": "external" } ], "gene_names_uniprotkb": "DCD; AIDD; DSEP", "gene_names_refseq": "AIDD; DCD-1; DCD; DSEP; HCAP; PIF", "protein_names_uniprotkb": "Dermcidin; 3.4.-.-; Preproteolysin", "protein_names_refseq": "dermcidin isoform 2 preproprotein; diffusible survival/evasion peptide; preproteolysin; proteolysis inducing factor; survival promoting peptide", "tax_id": 9606, "disease": "", "pathway": " (hsa:117159); (R-HSA-6803157)", "pathway_count": 2, "publication_count": 153, "publication_id_list": "11120840;11313366;11389039;11694882;11971875;12493837;13816;14506276;14739326;1522221;15229136;15340161;15778384;15826377;15956276;16054449;16075062;16215847;16336202;16354652;16354654;16374474;16799473;16931762;16940129;17363965;17448443;17502600;17567961;17964057;18021746;18160138;18160480;18185531;18673279;19095652;19179970;19254208;19608861;19818633;20103720;20180804;20382864;20395631;20510021;20845358;21787330;22262861;22327069;22455996;22701042;22898188;23302724;23426625;24219363;24256734;24715725;25075772;25326458;25461571;25502872;25505266;25576301;25596890;25892735;25946035;26024233;26148048;26154972;26375851;26853435;26992070;27089320;27452731;27846572;27893789;27920218;28218747;28228285;28467828;28649982;28855257;29242379;29314611;29317506;29393594;29493099;29508533;29557506;29632711;29786170;30315122;30397120;30429286;30459171;30463107;30524438;30734678;30833945;31092671;31115649;31154438;31217245;31222486;31530632;31611695;31717259;31844290;32157095;32161166;32162841;32350084;32357974;32373127;32387766;32502341;3286634;32938616;32983136;33043033;33392160;33592498;33968037;33981001;33981976;34019948;34078123;34087483;34171305;34211107;34229054;34357683;34433824;34561969;34846842;35051231;35251023;35561310;35580925;36010968;36213313;36215666;36241641;36284347;37453717;37938771;38665916;39990658;8228825;9523110;9665269;9736629;9756476", "class_list": "", "function": "Cell surface GRP78 and Dermcidin cooperate to regulate breast cancer cell migration through Wnt signaling., [RefSeq, PubMed]; Exhaled breath condensate analysis suggests that dermcidin and S100A9 may serve as biomarkers for lung cancer diagnosis or prognosis., [RefSeq, PubMed]; Found in sweat, has an antimicrobial activity during early bacterial colonization (PubMed:11694882, PubMed:23426625). The secreted peptide assembles into homohexameric complexes that can associate with and also insert into pathogen membranes (PubMed:23426625). Once inserted in bacteria membranes forms anion channels probably altering the transmembrane potential essential for bacterial survival (PubMed:23426625). Highly effective against E.coli, E.faecalis, S.aureus and C.albicans (PubMed:11694882). Optimal pH and salt concentration resemble the conditions in sweat (PubMed:11694882). Also exhibits proteolytic activity, cleaving on the C-terminal side of Arg and, to a lesser extent, Lys residues (PubMed:17448443)., [UniProtKB, PubMed, PubMed, PubMed]; Identified as antibiotic peptide secreted by sweat glands, [RefSeq, PubMed]; In this paper we have showed that evolutionary new genes DCD1(Dermicidin), LINC00309 and CLLU1 have tumor-specific expression profile, [RefSeq, PubMed]; Promotes survival of neurons and displays phosphatase activity (PubMed:9736629). It may bind IgG (PubMed:9736629)., [UniProtKB, PubMed]; The stress-induced DCN-2 production in AIHD propagates the inflammatory response. Steroid molecule like estriol plays a protective role by reducing DCN-2 responses in the NO synthesis., [RefSeq, PubMed]; This antimicrobial gene encodes a secreted protein that is subsequently processed into mature peptides of distinct biological activities. The C-terminal peptide is constitutively expressed in sweat and has antibacterial and antifungal activities. The N-terminal peptide, also known as diffusible survival evasion peptide, promotes neural cell survival under conditions of severe oxidative stress. A glycosylated form of the N-terminal peptide may be associated with cachexia (muscle wasting) in cancer patients. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 2, "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": 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": 1, "reported_glycation": 0, "reported_snv": 11, "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": "A5JHP2;A5JHP3;P58461;Q53YJ2", "ec_number_list": [ { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005216 monoatomic ion channel activity;GO:0046872 metal ion binding;GO:0008289 lipid binding;GO:0008233 peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0042742 defense response to bacterium;GO:0051873 killing by host of symbiont cells;GO:0050832 defense response to fungus", "synthesized_glycan_count": 0, "hit_score": 16.0, "record_id": "P81605-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05329-1", "uniprot_id": [ { "id": "DCE2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05329", "type": "external" } ], "mass": 65411.0, "length": 585, "protein_name": "Glutamate decarboxylase 2", "gene_name": "GAD2", "organism": "Human", "refseq_name": "glutamate decarboxylase 2", "refseq_ac": [ { "id": "NP_000809", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000809", "type": "external" } ], "gene_names_uniprotkb": "GAD2; GAD65", "gene_names_refseq": "GAD2; GAD65", "protein_names_uniprotkb": "Glutamate decarboxylase 2; 4.1.1.15; 65 kDa glutamic acid decarboxylase; GAD-65; Glutamate decarboxylase 65 kDa isoform", "protein_names_refseq": "65 kDa glutamic acid decarboxylase; GAD-65; Glutamate decarboxylase-2 (pancreas); glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa); glutamate decarboxylase 2", "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); gestational diabetes (Disease Ontology:DOID:11714); alcohol use disorder (Disease Ontology:DOID:1574); drug psychosis (Disease Ontology:DOID:1742); epilepsy (Disease Ontology:DOID:1826); transient cerebral ischemia (Disease Ontology:DOID:224); bipolar disorder (Disease Ontology:DOID:3312); schizophrenia (Disease Ontology:DOID:5419); amphetamine abuse (Disease Ontology:DOID:670); type 1 diabetes mellitus (Disease Ontology:DOID:9744); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:2572); (R-HSA-888568); (R-HSA-888590); (R-HSA-9022927)", "pathway_count": 4, "publication_count": 111, "publication_id_list": "10222205;10330300;10415074;10430937;10439311;10570321;10753043;10775108;10790426;10907121;11016444;11017172;11172025;11206414;11237011;11257303;11274421;11409713;11414702;11801634;11905849;11978633;12021103;12028536;12356867;12606513;12731068;12750892;12847240;14678267;14679042;14691540;15128778;15277377;15381770;1549570;15549775;16249070;16263242;16722236;16759710;17130492;17327428;17384644;17513797;17767149;17855434;17947651;17949947;18299317;18305140;18353353;18390725;19027267;1924293;19375301;19482555;19690518;19759824;19837003;19924236;20029631;22069251;22069252;22997432;23390544;24715725;25112375;25249579;25992863;26780456;27124592;27798614;29196783;29236750;29429978;29851415;29967002;30008714;30428974;30619245;31207885;31217245;32157332;32938616;33768201;33968037;35051231;35196314;35420879;36879107;37474341;38446892;39277606;7680313;7722468;8088791;8243826;8529129;8816975;8958223;8999827;9148785;9153283;9223318;9237801;9645372;9743354;9757911;9780178;9885897", "class_list": "", "function": "Catalyzes the production of GABA., [UniProtKB, PubMed, UniProtKB, UniProtKB]; GAD65 tunes the functions of Best1 as a GABA receptor and a neurotransmitter conducting channel. Publication Status: Online-Only, [RefSeq, PubMed]; Heterogeneity of circulating CXCR5-PD-1[hi]Tph cells in patients of type 2 and type 1 diabetes in Chinese population., [RefSeq, PubMed]; Similarities between bacterial GAD and human GAD65: Implications in gut mediated autoimmune type 1 diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; The plasma level of glutamic acid decarboxylase 65 (GAD65) increased in severely autistic Iranian children., [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 autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [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": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 14, "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": "Q9UD87", "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:0004351 glutamate decarboxylase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030424 axon", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0006540 gamma-aminobutyrate shunt;GO:0009449 gamma-aminobutyric acid biosynthetic process;GO:0019752 carboxylic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q05329-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MA6-1", "uniprot_id": [ { "id": "KAD8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MA6", "type": "external" } ], "mass": 54926.0, "length": 479, "protein_name": "Adenylate kinase 8", "gene_name": "AK8", "organism": "Human", "refseq_name": "adenylate kinase 8 isoform 2", "refseq_ac": [ { "id": "NP_001304887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304887", "type": "external" } ], "gene_names_uniprotkb": "AK8; C9orf98", "gene_names_refseq": "AK 8; AK8; C9orf98", "protein_names_uniprotkb": "Adenylate kinase 8; 2.7.4.3; 2.7.4.6; AK 8; ATP-AMP transphosphorylase 8", "protein_names_refseq": "ATP-AMP transphosphorylase 8; adenylate kinase 8 isoform 2; putative adenylate kinase-like protein C9orf98", "tax_id": 9606, "disease": "hydrocephalus (Disease Ontology:DOID:10908)", "pathway": " (hsa:158067); (R-HSA-499943)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10215863;10453732;10618642;10716435;10799505;10884394;10899599;11277919;11278511;11517226;11796141;11912132;12972261;13211603;14729598;15630091;16179339;16373698;16756507;16820675;17320107;177353;17824959;18469;1851158;18635542;18997010;19176520;19220460;19240061;19766732;21080915;211388;211390;22847445;23416111;2542324;25880248;26375851;2656695;2668278;32157095;32265295;32983136;33139725;33392160;33912179;35051231;39894887;40615;5484814;6182143;6248551;7685356;7851394;8448179;8663313;9488696;9677297", "class_list": "", "function": "Both AK7 and full-length AK8 showed highest affinity for AMP with ATP as the phosphate donor, and proved to be more efficient in AMP phosphorylation as compared with the major cytosolic isoform AK1, [RefSeq, PubMed]; Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP. Also displays broad nucleoside diphosphate kinase activity., [UniProtKB, PubMed, 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": 0, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K821;Q8N9W9", "ec_number_list": [ { "id": "2.7.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.10", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" }, { "id": "2.7.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.4", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.13.3", "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": "2.7.4.14", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.14", "type": "external" } ], "go_molecular_function": "GO:0004017 AMP kinase activity;GO:0005524 ATP binding;GO:0016208 AMP binding;GO:0004550 nucleoside diphosphate kinase activity;GO:0036431 dCMP kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0036126 sperm flagellum;GO:0005930 axoneme;GO:0097729 9+2 motile cilium", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q96MA6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q496Y0-1", "uniprot_id": [ { "id": "LONF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q496Y0", "type": "external" } ], "mass": 84490.0, "length": 759, "protein_name": "LON peptidase N-terminal domain and RING finger protein 3", "gene_name": "LONRF3", "organism": "Human", "refseq_name": "LON peptidase N-terminal domain and RING finger protein 3 isoform 1", "refseq_ac": [ { "id": "NP_001027026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027026", "type": "external" } ], "gene_names_uniprotkb": "LONRF3; RNF127", "gene_names_refseq": "LONRF3; RNF127", "protein_names_uniprotkb": "LON peptidase N-terminal domain and RING finger protein 3; RING finger protein 127", "protein_names_refseq": "LON peptidase N-terminal domain and RING finger protein 3 isoform 1; ring finger protein 127", "tax_id": 9606, "disease": "", "pathway": " (hsa:79836)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;16959974;25576301;28904123;29242379;31154438;31530632;31844290;32387766;32488085;32938616;33968037;35051231", "class_list": "", "function": "The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Multiple alternatively spliced transcript variants have been suggested, but their full length natures are not clear. [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": "Q5JPN6;Q8NB00;Q9H647", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q496Y0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P127-1", "uniprot_id": [ { "id": "LUZP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P127", "type": "external" } ], "mass": 35937.0, "length": 313, "protein_name": "Leucine zipper protein 4", "gene_name": "LUZP4", "organism": "Human", "refseq_name": "leucine zipper protein 4 isoform 2", "refseq_ac": [ { "id": "NP_001305769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305769", "type": "external" } ], "gene_names_uniprotkb": "LUZP4", "gene_names_refseq": "CT-28; CT-8; CT28; HOM-TES-85; LUZP4", "protein_names_uniprotkb": "Leucine zipper protein 4; CT-28; CT28; Cancer/testis antigen 28; Tumor antigen HOM-TES-85", "protein_names_refseq": "HOM-TES-85 tumor antigen; cancer/testis antigen 28; leucine zipper protein 4 isoform 2; tumor antigen HOM-TES-85", "tax_id": 9606, "disease": "", "pathway": " (hsa:51213); (R-HSA-159236); (R-HSA-72187)", "pathway_count": 3, "publication_count": 44, "publication_id_list": "10228171;10323864;10489353;10668806;11073998;11237011;11256625;11259411;11259602;11579093;11739738;11756420;11979277;12032826;12093754;12871933;15998806;16314397;17000901;17190602;17984224;18364396;18411249;18423201;18957205;19836239;19901323;20129943;20573985;20844015;21947206;22207203;22893130;22928037;23186163;23222130;23299939;23826332;24244187;25662211;25836925;33091337;9618489;9660949", "class_list": "", "function": "A novel tumour associated leucine zipper protein targeting to sites of gene transcription and splicing., [RefSeq, PubMed]; Export adapter involved in mRNA nuclear export in cancer cells. Binds and enhances the RNA-binding activity of the nuclear RNA export factor NXF1. Can restore mRNA export function in cells compromised by loss of mRNA export adapters (PubMed:25662211)., [UniProtKB, PubMed]; Luzp4 is an RNA-binding protein which associates with the TREX mRNA export complex subunit Uap56. Luzp4 also binds the principal mRNA export receptor Nxf1, enhances its RNA binding activity and complements Alyref knockdown in vivo. Luzp4 displays all features of an mRNA export adaptor. Whilst Luzp4 is up-regulated in a range of tumours, it appears preferentially expressed in melanoma cells where it is required for growth., [RefSeq, PubMed]; This gene encodes a leucine-zipper protein that was first defined as a cancer testis antigens. The encoded protein is an RNA binding protein that interacts with the mRNA export receptor nuclear RNA export factor 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 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": 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": "B3KSD6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006406 mRNA export from nucleus", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9P127-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P242-1", "uniprot_id": [ { "id": "NYAP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P242", "type": "external" } ], "mass": 70548.0, "length": 653, "protein_name": "Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2", "gene_name": "NYAP2", "organism": "Human", "refseq_name": "neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2 isoform 2", "refseq_ac": [ { "id": "NP_065915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065915", "type": "external" } ], "gene_names_uniprotkb": "NYAP2; KIAA1486", "gene_names_refseq": "KIAA1486; NYAP2", "protein_names_uniprotkb": "Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2", "protein_names_refseq": "neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2 isoform 2; neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57624)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;18220336;18669648;20889853;25418920;29557506;30059200;30484775;32265295;35051231", "class_list": "", "function": "Activates PI3K and concomitantly recruits the WAVE1 complex to the close vicinity of PI3K and regulates neuronal morphogenesis., [UniProtKB]; Observational study of gene-disease association, gene-gene interaction, 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 53, "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": "A2RRN4;Q96NL2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0048812 neuron projection morphogenesis;GO:0043491 phosphatidylinositol 3-kinase/protein kinase B signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9P242-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12841-1", "uniprot_id": [ { "id": "FSTL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12841", "type": "external" } ], "mass": 34986.0, "length": 308, "protein_name": "Follistatin-related protein 1", "gene_name": "FSTL1", "organism": "Human", "refseq_name": "follistatin-related protein 1 precursor", "refseq_ac": [ { "id": "NP_009016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009016", "type": "external" } ], "gene_names_uniprotkb": "FSTL1; FRP", "gene_names_refseq": "FRP; FSL1; FSTL1; OCC-1; OCC1; tsc36", "protein_names_uniprotkb": "Follistatin-related protein 1; Follistatin-like protein 1", "protein_names_refseq": "follistatin-like protein 1; follistatin-related protein 1 precursor; follistatin-related protein 1", "tax_id": 9606, "disease": "tetraamelia syndrome 1 (Disease Ontology:DOID:0112192); pulmonary emphysema (Disease Ontology:DOID:9675)", "pathway": " (hsa:11167); (R-HSA-201451); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 4, "publication_count": 133, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10026136;10077652;10218588;10458166;10512690;10587654;10614670;10681634;10712517;10810289;10898936;10912521;10951195;10990447;11016919;11121043;11158056;11158580;11237011;11250653;11264294;11278251;11316783;11509558;11522292;11571290;11606061;11714695;11739083;11751371;11779505;11788658;12151385;12241545;12379487;12466191;12519765;12592392;12810533;12821673;12857866;12904166;1370451;1383255;15126567;15296481;15308688;15340161;15469690;15485880;15525596;15638044;15642270;16335952;16672363;17029022;17047378;17068149;17249697;17311849;17312271;17356069;17985932;19664994;20054002;20860622;22265692;23090970;23584533;24190977;2476804;2479552;26091039;27726376;27862975;29212066;29242379;29393594;29557506;29741879;30429286;30459171;30833945;31844290;32157095;32350084;32938616;33141586;33592498;34019948;35251023;35254053;35580925;36010968;36284347;37074911;37888756;38018497;38346455;38605354;38665916;38768802;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7644468;7683646;7689487;7791754;7957230;8119126;8653785;8781553;8817670;8893010;8894645;8964575;9136927;9436979;9497324;9709957;9733769;9786430;9786878;9922210", "class_list": "", "function": "A site-specific phosphorylation in FSTL1 determines its promigratory role in wound healing., [RefSeq, PubMed]; Analysis of the expression and mechanism of follistatin-like protein 1 in cervical cancer., [RefSeq, PubMed]; FSTL1: A double-edged sword in cancer development. Review article, [RefSeq, PubMed]; Follistatin-like 1 is a myokine regulating lipid mobilization during endurance exercise and recovery., [RefSeq, PubMed]; Secreted glycoprotein that is involved in various physiological processes, such as angiogenesis, regulation of the immune response, cell proliferation and differentiation (PubMed:22265692, PubMed:29212066). Plays a role in the development of the central nervous system, skeletal system, lungs, and ureter (By similarity). Promotes endothelial cell survival, migration and differentiation into network structures in an AKT-dependent manner. Also promotes survival of cardiac myocytes (By similarity). Initiates various signaling cascades by activating different receptors on the cell surface such as DIP2A, TLR4 or BMP receptors (PubMed:20054002, PubMed:22265692)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; THOC7-AS1/OCT1/FSTL1 axis promotes EMT and serves as a therapeutic target in cutaneous squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein with similarity to follistatin, an activin-binding protein. It contains an FS module, a follistatin-like sequence containing 10 conserved cysteine residues. This gene product is thought to be an autoantigen associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008]., [RefSeq]; Whilst follistatin expression is unchanged, follistatin-related gene is down-regulated in endometrial carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 3, "mined_n_glycosites": 3, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "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": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 27, "disease_count": 2, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A8K523;B4DTT5;D3DN90;Q549Z0", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030154 cell differentiation;GO:0043066 negative regulation of apoptotic process;GO:0043542 endothelial cell migration;GO:0030510 regulation of BMP signaling pathway;GO:0045446 endothelial cell differentiation", "synthesized_glycan_count": 0, "hit_score": 16.9, "record_id": "Q12841-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49411-1", "uniprot_id": [ { "id": "EFTU_HUMAN", "url": "https://www.uniprot.org/uniprot/P49411", "type": "external" } ], "mass": 49875.0, "length": 455, "protein_name": "Elongation factor Tu, mitochondrial", "gene_name": "TUFM", "organism": "Human", "refseq_name": "elongation factor Tu, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_003312", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003312", "type": "external" } ], "gene_names_uniprotkb": "TUFM", "gene_names_refseq": "COXPD4; EF-TuMT; EFTU; P43; TUFM", "protein_names_uniprotkb": "Elongation factor Tu, mitochondrial; 3.6.5.3; EF-Tu; P43", "protein_names_refseq": "EF-Tu; elongation factor Tu, mitochondrial isoform 1 precursor; elongation factor Tu, mitochondrial; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515); combined oxidative phosphorylation deficiency 4 (Disease Ontology:DOID:0111494)", "pathway": " (hsa:7284); (R-HSA-5389840); (R-HSA-9754560)", "pathway_count": 3, "publication_count": 68, "publication_id_list": "11237011;12665801;14654843;15358359;16408927;17160893;19524667;19608861;19716793;20068231;22121020;22172991;2250005;22749352;23186163;23481700;23783831;25418920;26375851;26728094;26853435;27452731;27600516;28063628;28218747;28228285;28407488;28514659;28649982;28832583;28834231;28855257;29242379;29351928;29393594;29508533;29632046;29632711;29786170;30315122;30444036;30524438;30779550;30833945;31091447;31154438;31530632;31848261;32061931;32119511;32265295;33214551;33422265;33774866;33947832;33966045;34019948;34386498;34725712;35083852;37217939;37461298;37938771;38665916;39990658;7828719;8547323;9332382", "class_list": "", "function": "Elongation Factor Tu Switch I Element is a Gate for Aminoacyl-tRNA Selection., [RefSeq, PubMed]; GTP hydrolase that promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. Participates in mitochondrial translation (By similarity). Also plays a role in the regulation of autophagy and innate immunity (PubMed:22749352, PubMed:28407488). Recruits ATG5-ATG12 and NLRX1 at mitochondria and serves as a checkpoint of the RIGI-MAVS pathway (PubMed:28407488). In turn, inhibits RLR-mediated type I interferon while promoting autophagy (PubMed:22749352)., [UniProtKB, PubMed, PubMed, UniProtKB]; Novel Tu translation elongation factor, mitochondrial (TUFM) homozygous variant in a consanguineous family with premature ovarian insufficiency., [RefSeq, PubMed]; TUFM is involved in Alzheimer's disease-like pathologies that are associated with ROS., [RefSeq, PubMed]; This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [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": 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": "O15276", "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": "3.1.1.29", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.29", "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:0000287 magnesium ion binding;GO:0003723 RNA binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0003746 translation elongation factor activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0016020 membrane;GO:0042645 mitochondrial nucleoid;GO:0070062 extracellular exosome", "go_biological_process": "GO:0070125 mitochondrial translational elongation;GO:0006414 translational elongation;GO:1902775 mitochondrial large ribosomal subunit assembly;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "P49411-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12834-1", "uniprot_id": [ { "id": "CDC20_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12834", "type": "external" } ], "mass": 54723.0, "length": 499, "protein_name": "Cell division cycle protein 20 homolog", "gene_name": "CDC20", "organism": "Human", "refseq_name": "cell division cycle protein 20 homolog", "refseq_ac": [ { "id": "NP_001246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001246", "type": "external" } ], "gene_names_uniprotkb": "CDC20", "gene_names_refseq": "CDC20A; CDC20; OOMD14; OZEMA14; bA276H19.3; p55CDC", "protein_names_uniprotkb": "Cell division cycle protein 20 homolog; p55CDC", "protein_names_refseq": "CDC20 cell division cycle 20 homolog; cell division cycle protein 20 homolog; fizzy homolog", "tax_id": 9606, "disease": "oocyte maturation defect 14 (MONDO:MONDO:0859521)", "pathway": " (hsa:991); (R-HSA-141405); (R-HSA-141430); (R-HSA-141444); (R-HSA-174048); (R-HSA-174113); (R-HSA-174154); (R-HSA-174178); (R-HSA-174184); (R-HSA-176407); (R-HSA-176408); (R-HSA-176409); (R-HSA-176417); (R-HSA-179409); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-5689880); (R-HSA-68877); (R-HSA-9648025); (R-HSA-983168)", "pathway_count": 21, "publication_count": 296, "publication_id_list": "10023660;10411507;10444327;10459014;10548110;10600384;10678165;10679238;10733526;10793135;10958683;10982817;11062501;11081627;11181178;11285280;11340163;11350924;11371342;11459826;11509732;11535616;11566882;11598127;11742988;11804586;11923872;11988738;12006501;12070128;12194817;12429848;12446569;12577064;12646216;12679384;12732141;12791267;12805219;12852857;12917689;12917691;14657031;14661020;14730319;14734113;14743218;15006353;15014503;15053880;15085137;15224091;15224092;15339662;15469821;15469984;15507212;15525512;15571818;15678131;15723797;15737063;15864301;15866170;15916963;15944396;16214042;16292343;16413484;16439214;16541025;16595681;16622419;16622420;16648845;16682347;16849449;16890222;16901786;16943183;16954532;16964248;17030981;17112726;17113138;17129783;17187060;17196341;17198702;17290220;1737036;17403670;17443180;17873522;17980597;17981138;18001770;18097444;18172164;18467330;18485873;18632802;18636086;18662542;18669648;18716626;18767875;18794143;18923426;18997788;19015242;19028597;19098431;19135894;19188362;19282672;19350017;19352404;19363159;19398555;19413330;19424180;19452197;19489725;19696148;19815554;19838211;19851334;19874575;19874889;19910467;19940261;19965387;20030946;20034488;20096447;20101212;20228808;20368735;20501646;20591975;21111234;21148482;21239494;21362556;21397845;21571647;21576392;21596315;21659512;21849505;21868368;21878504;21926987;21962518;21987589;22009320;22014574;22029577;22084091;22085928;22094460;22128162;22216260;22275430;22608513;2261476;22645359;22692537;22790947;22885700;23159851;23186163;23222643;23395819;23486064;23643811;23801653;23824326;23825189;24056413;24260525;24493797;24714562;24715725;24896179;24914801;25197364;25305019;25418920;25576301;25578727;25740311;25789526;26024233;26154972;26375851;26714015;26758079;26811146;26912231;26929215;26960431;26992070;27030811;27120157;27509861;27600516;27653696;27846572;27920218;28063628;28218747;28228285;28352266;28514659;28649982;28832583;28834231;28904123;29162720;29242379;29331515;29343641;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30410026;30524438;30779550;30833945;31217245;31222486;31409757;31530632;31540894;31844290;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32666501;32897882;32938616;33094908;33141586;33298915;33537174;33592498;33633747;33683667;33691108;33717175;33898437;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34218387;34260926;34357683;34405274;34932366;35051231;35217622;35318648;35561310;36241641;36284347;37478862;38337031;39018254;39231204;7513050;7578059;9380723;9637688;9649308;9649503;9668046;9734353;9811605;9892021", "class_list": "", "function": "CCDC68 Maintains Mitotic Checkpoint Activation by Promoting CDC20 Integration into the MCC., [RefSeq, PubMed]; CDC20 appears to act as a regulatory protein interacting with several other proteins at multiple points in the cell cycle. It is required for two microtubule-dependent processes, nuclear movement prior to anaphase and chromosome separation. [provided by RefSeq, Jul 2008]., [RefSeq]; Functional analysis of Cdc20 reveals a critical role of CRY box in mitotic checkpoint signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate-specific adapter and activator of the anaphase promoting complex/cyclosome (APC/C) that confers substrate specificity by binding to substrates and targeting them to the APC/C for ubiquitination and degradation (PubMed:9734353, PubMed:27030811, PubMed:29343641, PubMed:27120157, PubMed:27509861). Essential for activating APC/C in the metaphase/anaphase transition of the cell cycle, targeting the degradation of cyclin B and securin (PubMed:27120157, PubMed:27509861, PubMed:32666501). Recognizes and binds the destruction box (D box), KEB box and ABBA motifs on protein substrates (PubMed:29343641, 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 induces presynaptic differentiation (By similarity). The CDC20-APC/C complex promotes proper dilation formation and radial migration by degrading CCDC41 (By similarity). Component of the mitotic checkpoint complex (MCC), which inhibits APC/C and delays chromosome segregation until all chromosomes are properly attached to the mitotic spindle (PubMed:27509861). The MCC, which consists of CDC20, MAD2L1/MAD2, BUB1B/BUBR1 and BUB3, is a key player of the spindle assembly checkpoint (PubMed:27509861). The MCC-bound APC/C complex is inactive and this delays the metaphase/anaphase transition (PubMed:9811605, PubMed:9637688, PubMed:27509861). When the spindle assembly checkpoint is silenced, the MCC-APC/C complex recruits the E2 enzyme UBCH10 and triggers the auto-ubiquitination of CDC20 in the MCC, thereby reactivating APC/C for transition into anaphase (PubMed:27509861)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The Mitotic Checkpoint Complex controls the association of Cdc20 regulatory protein with the ubiquitin ligase APC/C in mitosis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 9, "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": "B2R6Z6;D3DPJ1;Q5JUY4;Q9BW56;Q9UQI9", "ec_number_list": [], "go_molecular_function": "GO:0042826 histone deacetylase binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:0010997 anaphase-promoting complex binding;GO:1990757 ubiquitin ligase activator activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005819 spindle;GO:0005829 cytosol", "go_biological_process": "GO:0007399 nervous system development;GO:0008284 positive regulation of cell population proliferation;GO:0030154 cell differentiation;GO:0051301 cell division;GO:0007346 regulation of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 29.9, "record_id": "Q12834-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UE4-1", "uniprot_id": [ { "id": "LYRIC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UE4", "type": "external" } ], "mass": 63837.0, "length": 582, "protein_name": "Protein LYRIC", "gene_name": "MTDH", "organism": "Human", "refseq_name": "protein LYRIC isoform 1", "refseq_ac": [ { "id": "NP_848927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848927", "type": "external" } ], "gene_names_uniprotkb": "MTDH; AEG1; LYRIC", "gene_names_refseq": "3D3; AEG-1; AEG1; LYRIC/3D3; LYRIC; MTDH", "protein_names_uniprotkb": "Protein LYRIC; 3D3/LYRIC; AEG-1; Astrocyte elevated gene-1 protein; Lysine-rich CEACAM1 co-isolated protein; Metadherin; Metastasis adhesion protein", "protein_names_refseq": "3D3/LYRIC; astrocyte elevated gene 1; astrocyte elevated gene-1 protein; lysine-rich CEACAM1 co-isolated protein; metastasis adhesion protein; protein LYRIC isoform 1; protein LYRIC", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:92140)", "pathway_count": 1, "publication_count": 106, "publication_id_list": "11237011;11823860;14980505;15093543;15383321;15927426;16452207;17081983;17287340;17322306;18088087;18316612;18440304;18452278;18510355;18578522;18669648;18707149;18767875;19111877;19413330;19651622;19664994;19690332;20068230;20068231;20166139;21406692;22121020;22898188;23186163;23481700;24275569;24708550;24714562;24715725;25418920;25576301;25645385;25849741;26154972;26375851;26992070;27452731;27846572;28657654;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30444036;30524438;31373491;31844290;32119511;32157095;32265295;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34509645;35051231;35132862;35254053;35289036;35494241;35561310;35580925;36241641;36284347;37217939;37541260;37938771;38253038;38578957;38615202;38625581;38665916;39276108;39302247;39531497;40307207;40596516;40914422", "class_list": "", "function": "3D3/lyric is localized to the membrane of the endoplasmic reticulum, nuclear envelope, and the nucleolus., [RefSeq, PubMed]; A Study on the Binding Mechanism and the Impact of Key Residue Mutations between SND1 and MTDH Peptide through Molecular Dynamics Simulations., [RefSeq, PubMed]; A novel protein LYRIC is recruited during the maturation of the tight junction complex., [RefSeq, PubMed]; Down-regulates SLC1A2/EAAT2 promoter activity when expressed ectopically. Activates the nuclear factor kappa-B (NF-kappa-B) transcription factor. Promotes anchorage-independent growth of immortalized melanocytes and astrocytes which is a key component in tumor cell expansion. Promotes lung metastasis and also has an effect on bone and brain metastasis, possibly by enhancing the seeding of tumor cells to the target organ endothelium. Induces chemoresistance., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; HIV-1 gp120 amplifies astrocyte elevated gene-1 activity to compromise the integrity of the outer blood-retinal barrier., [RefSeq, PubMed]; Overexpression of metadherin is associated with metastatic breast cancer, [RefSeq, PubMed]; Plasma metadherin mRNA expression in bladder cancer., [RefSeq, PubMed]; USP7 promotes cervical cancer progression by stabilizing MTDH expression through deubiquitination. 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": 29, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q05DH2;Q52QU9;Q6PK07;Q8TCX3", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0051059 NF-kappaB binding;GO:0003725 double-stranded RNA binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0043066 negative regulation of apoptotic process;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0045766 positive regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q86UE4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCJ0-3", "uniprot_id": [ { "id": "TNR6C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCJ0", "type": "external" } ], "mass": 201830.0, "length": 1936, "protein_name": "Trinucleotide repeat-containing gene 6C protein", "gene_name": "TNRC6C", "organism": "Human", "refseq_name": "trinucleotide repeat-containing gene 6C protein isoform 2", "refseq_ac": [ { "id": "NP_061869", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061869", "type": "external" } ], "gene_names_uniprotkb": "TNRC6C; KIAA1582", "gene_names_refseq": "TNRC6C", "protein_names_uniprotkb": "Trinucleotide repeat-containing gene 6C protein", "protein_names_refseq": "trinucleotide repeat containing 6C; trinucleotide repeat-containing gene 6C protein isoform 2; trinucleotide repeat-containing gene 6C protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:57690); (R-HSA-165159); (R-HSA-1912408); (R-HSA-2559580); (R-HSA-2559585); (R-HSA-4086398); (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": 26, "publication_count": 576, "publication_id_list": 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"class_list": "", "function": "Expression of TNRC6 (GW182) Proteins Is Not Necessary for Gene Silencing by Fully Complementary RNA Duplexes., [RefSeq, PubMed]; Impact of scaffolding protein TNRC6 paralogs on gene expression and splicing., [RefSeq, PubMed]; Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes. Publication Status: Online-Only, [RefSeq, PubMed]; Our findings indicate that TNRC6C, is recruited to miRNA targets through an interaction between their N-terminal domain and an Argonaute protein, [RefSeq, PubMed]; Plays a role in RNA-mediated gene silencing by micro-RNAs (miRNAs). Required for miRNA-dependent translational repression of complementary mRNAs by argonaute family proteins. As scaffoldng protein associates with argonaute proteins bound to partially complementary mRNAs and simultaneously can recruit CCR4-NOT and PAN deadenylase complexes., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Through deletion and mutagenesis, study identified the C-terminal part of TNRC6C encompassing the RRM RNA-binding motif as a key effector domain mediating protein synthesis repression by TNRC6C., [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": 4, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 49, "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": "A0A8Q3SIH5;A0A8Q3SIS0;G3XAB8;Q86UE5;Q8N3D8;Q96MU9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000932 P-body", "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:1900153 positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;GO:0035195 miRNA-mediated post-transcriptional gene silencing", "synthesized_glycan_count": 0, "hit_score": 58.1, "record_id": "Q9HCJ0-3", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969V5-1", "uniprot_id": [ { "id": "MUL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969V5", "type": "external" } ], "mass": 39800.0, "length": 352, "protein_name": "Mitochondrial ubiquitin ligase activator of NFKB 1", "gene_name": "MUL1", "organism": "Human", "refseq_name": "mitochondrial ubiquitin ligase activator of NFKB 1", "refseq_ac": [ { "id": "NP_078820", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078820", "type": "external" } ], "gene_names_uniprotkb": "MUL1; C1orf166; GIDE; MAPL; MULAN; RNF218", "gene_names_refseq": "C1orf166; GIDE; MAPL; MUL1; MULAN; RNF218", "protein_names_uniprotkb": "Mitochondrial ubiquitin ligase activator of NFKB 1; 2.3.2.27; E3 SUMO-protein ligase MUL1; E3 ubiquitin-protein ligase MUL1; Growth inhibition and death E3 ligase; Mitochondrial-anchored protein ligase; Protein Hades; Putative NF-kappa-B-activating protein 266; RING finger protein 218; RING-type E3 ubiquitin transferase NFKB 1", "protein_names_refseq": "E3 SUMO-protein ligase MUL1; E3 ubiquitin-protein ligase MUL1; RING-type E3 ubiquitin transferase NFKB 1; growth inhibition and death E3 ligase; mitochondria-anchored protein ligase; mitochondrial E3 ubiquitin ligase 1; mitochondrial ubiquitin ligase activator of NF-kB; mitochondrial ubiquitin ligase activator of NFKB 1; mitochondrial-anchored protein ligase; protein Hades; putative NF-kappa-B-activating protein 266; ring finger protein 218", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:79594); (R-HSA-5689880); (R-HSA-8951664); (R-HSA-9755511)", "pathway_count": 4, "publication_count": 281, "publication_id_list": "10444327;10535940;10597293;10811609;10878807;10973499;10982817;11069780;11259415;11292861;11292862;11454738;11566882;11585840;11733065;11923872;11961546;12101228;12186903;12198130;12504025;12504026;12526791;12538644;12609982;12682069;12700136;12759363;12761501;12816948;12917689;12917691;14517290;14585973;14661020;14688281;14690597;14757770;14764894;15053880;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;15916963;15983046;16171779;16214042;16286508;16359182;16401342;16547496;16647857;16707496;16790436;16901786;16943200;16962933;16964248;17081101;17132228;17183367;17220875;17290220;17332328;17443180;17497243;17512459;17785452;17873522;17979524;17980597;17981138;18093314;18172164;18206966;18207745;18213395;18238777;18273910;18467330;18591963;18632802;18636086;18775313;18776931;18805092;18826954;18851830;18926707;19015242;19135894;19188362;19250909;19321346;19363159;19398555;19407830;19424180;19617556;19748355;19838211;19874889;19910467;20096447;20228808;20368735;20378532;20452972;20495340;20501646;21220506;21239494;21362556;21391649;21447816;21463634;21571647;21596315;21597459;21659512;21734707;21778237;21849505;21863050;21940857;21962518;22029577;22085928;22128162;22216260;22306028;22410793;22466964;22537386;22789539;22872865;22959436;23159851;23201271;23274085;23333871;23395819;23399697;23401859;23453757;23481700;23486064;23535662;23535663;23563313;23583660;23824326;23825189;23912815;23986495;24011591;24056413;24076655;24260525;24298019;24366543;24366607;24493797;24636985;24714562;24715725;24793695;24793696;24896179;24898855;25040165;25197364;25305019;25314029;25349211;25355947;25418920;25531226;25576301;25578727;25621951;25645385;25793262;25880248;25892735;25921531;26117325;26154972;26344709;26375851;26460955;26583321;26632597;26728094;26906416;26942676;26992070;27030794;27222660;27565346;27600516;27846572;27862975;28115426;28218747;28228285;28380357;28649982;28832583;28834231;28904123;29153394;29233872;29242379;29437277;29450944;29526543;29557506;29769354;29786170;30315122;30410026;30429286;30524438;30610225;30779550;31154438;31217245;31546975;31844290;31848261;31998317;32005965;32157095;32284348;32293500;32350084;32357974;32387766;32488085;32502341;32640524;32672401;32897882;32938616;32983136;33009401;33141586;33298915;33444648;33592498;33717175;33791708;33859744;33912179;33968037;34171305;34185709;34211107;34322908;34509645;34932366;35051231;35318648;35580925;36284347;36581221;37938771;39134101;7578059;9790970;9887101;9891082", "class_list": "", "function": "A new functional role of mitochondria-anchored protein ligase in peroxisome morphology in mammalian cells., [RefSeq, PubMed]; Exhibits weak E3 ubiquitin-protein ligase activity (PubMed:18591963, PubMed:19407830, PubMed:22410793). E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates (PubMed:18591963, PubMed:19407830, PubMed:22410793). Can ubiquitinate AKT1 preferentially at 'Lys-284' involving 'Lys-48'-linked polyubiquitination and seems to be involved in regulation of Akt signaling by targeting phosphorylated Akt to proteasomal degradation (PubMed:22410793). Mediates polyubiquitination of cytoplasmic TP53 at 'Lys-24' which targets TP53 for proteasomal degradation, thus reducing TP53 levels in the cytoplasm and mitochondrion (PubMed:21597459). Proposed to preferentially act as a SUMO E3 ligase at physiological concentrations (PubMed:19407830). Plays a role in the control of mitochondrial morphology by promoting mitochondrial fragmentation, and influences mitochondrial localization (PubMed:18207745, PubMed:18213395, PubMed:19407830). Likely to promote mitochondrial fission through negatively regulating the mitochondrial fusion proteins MFN1 and MFN2, acting in a pathway that is parallel to the PRKN/PINK1 regulatory pathway (PubMed:24898855). May also be involved in the sumoylation of the membrane fission protein DNM1L (PubMed:18207745, PubMed:19407830). Inhibits cell growth (PubMed:18591963, PubMed:22410793). When overexpressed, activates JNK through MAP3K7/TAK1 and induces caspase-dependent apoptosis (PubMed:23399697). Involved in the modulation of innate immune defense against viruses by inhibiting RIGI-dependent antiviral response (PubMed:23399697). Can mediate RIGI sumoylation and disrupt its polyubiquitination (PubMed:23399697)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Incorporated within unique, DRP1-independent, 70-100 nm diameter mitochondria-derived vesicles which fuse with a subset of peroxisomes GeneRIF: Confocal- and electron-microscopy studies of MAPL-YFP led to the observation that mitochondria-anchored protein ligase (MAPL) is incorporated within unique, DRP1-independent, 70-100 nm diameter mitochondria-derived vesicles (MDVs)., [RefSeq, PubMed]; MUL1 identified as mitochondria-linked biomarker promoting cisplatin resistance in OC cells., [RefSeq, PubMed]; The identification of GIDE, a mitochondrially located E3 ubiquitin ligase, is 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": 6, "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": "B5M497;Q7Z431;Q9H9B5", "ec_number_list": [ { "id": "3.4.24.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.56", "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": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.1.1.29", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.29", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding;GO:0061630 ubiquitin protein ligase activity;GO:0002039 p53 binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005777 peroxisome;GO:0016020 membrane;GO:0030424 axon", "go_biological_process": "GO:0071360 cellular response to exogenous dsRNA;GO:1903861 positive regulation of dendrite extension;GO:0050689 negative regulation of defense response to virus by host;GO:0016925 protein sumoylation;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 28.2, "record_id": "Q969V5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51955-1", "uniprot_id": [ { "id": "NEK2_HUMAN", "url": "https://www.uniprot.org/uniprot/P51955", "type": "external" } ], "mass": 51763.0, "length": 445, "protein_name": "Serine/threonine-protein kinase Nek2", "gene_name": "NEK2", "organism": "Human", "refseq_name": "serine/threonine-protein kinase Nek2 isoform 3", "refseq_ac": [ { "id": "NP_001191111", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191111", "type": "external" } ], "gene_names_uniprotkb": "NEK2; NEK2A; NLK1", "gene_names_refseq": "HsPK21; NEK2A; NEK2; NLK1; PPP1R111; RP67", "protein_names_uniprotkb": "Serine/threonine-protein kinase Nek2; 2.7.11.1; HSPK 21; Never in mitosis A-related kinase 2; NimA-like protein kinase 1; NimA-related protein kinase 2", "protein_names_refseq": "NIMA (never in mitosis gene a)-related kinase 2; nimA-like protein kinase 1; nimA-related protein kinase 2; protein phosphatase 1, regulatory subunit 111; serine/threonine-protein kinase Nek2 isoform 3; serine/threonine-protein kinase Nek2", "tax_id": 9606, "disease": "retinitis pigmentosa 67 (Disease Ontology:DOID:0110359); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:4751); (R-HSA-179409); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518); (R-HSA-9918481); (R-HSA-9929356)", "pathway_count": 11, "publication_count": 180, "publication_id_list": "11076968;11237011;11742531;11742988;11747608;11956313;12207013;12221128;12364337;12852856;12857871;13678582;14519844;14580337;14654843;14762106;14978040;15084397;15161910;15358203;15388344;15498487;15659832;15705883;16280549;16357211;16462731;16648845;16890155;17197699;17283141;17344846;17574030;17621308;17626005;17646400;17719545;18037885;18086858;18088087;18297113;18378770;18477460;18521620;18566290;18615013;18691976;18694559;18801063;19004860;19081074;19369195;19940019;19941817;20034488;20112406;20230748;20308558;20399632;20558667;20599736;20936789;21076410;21273506;21347367;21422230;21548880;21565611;21620453;21669869;21725307;21792235;21911577;22094468;22179047;22365832;22433857;22641346;22653444;23141531;23141541;23186163;23253480;23348840;23400999;23530209;23747070;23769972;23789104;23921553;24043777;24053599;24089205;24231678;24366607;24469809;24554434;24982133;25047611;25313408;25418920;25532896;25576301;25704143;25892735;26092250;26154972;26220856;26811146;26992070;27108190;27572267;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;29769354;29902443;30315122;30404835;30410026;30429286;30484775;30599162;30728908;30779550;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32265295;32357974;32387766;32897882;32938616;32983136;33141586;33177556;33298915;33402344;33592498;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34315872;34932366;35051231;35215846;35318648;35580925;36010968;36241641;38721812;38758909;38764296;38795132;7522034;7769006;7790358;8274451;8838651", "class_list": "", "function": "Abnormal methylation mediated upregulation of LINC00857 boosts malignant progression of lung adenocarcinoma by modulating the miR-486-5p/NEK2 axis., [RefSeq, PubMed]; Function of NEK2 in clear cell renal cell carcinoma and its effect on the tumor microenvironment., [RefSeq, PubMed]; NEK2 promotes TP53 ubiquitination to enhance the proliferation and migration of TP53 wild-type glioblastoma cells., [RefSeq, PubMed]; NEK2 promotes the development of ovarian endometriosis and impairs decidualization by phosphorylating FOXO1. Publication Status: Online-Only, [RefSeq, PubMed]; Not present in the nucleolus and, in contrast to isoform 1, does not phosphorylate and activate NEK11 in G1/S-arrested cells., [UniProtKB, PubMed]; Nucleolar Nek11 is a novel target of Nek2A in G1/S-arrested cells, [RefSeq, PubMed]; Phosphorylates and activates NEK11 in G1/S-arrested cells., [UniProtKB, PubMed]; Protein kinase which is involved in the control of centrosome separation and bipolar spindle formation in mitotic cells and chromatin condensation in meiotic cells. Regulates centrosome separation (essential for the formation of bipolar spindles and high-fidelity chromosome separation) by phosphorylating centrosomal proteins such as CROCC, CEP250 and NINL, resulting in their displacement from the centrosomes. Regulates kinetochore microtubule attachment stability in mitosis via phosphorylation of NDC80. Involved in regulation of mitotic checkpoint protein complex via phosphorylation of CDC20 and MAD2L1. Plays an active role in chromatin condensation during the first meiotic division through phosphorylation of HMGA2. Phosphorylates: PPP1CC; SGO1; NECAB3 and NPM1. Essential for localization of MAD2L1 to kinetochore and MAPK1 and NPM1 to the centrosome. Phosphorylates CEP68 and CNTLN directly or indirectly (PubMed:24554434). NEK2-mediated phosphorylation of CEP68 promotes CEP68 dissociation from the centrosome and its degradation at the onset of mitosis (PubMed:25704143). Involved in the regulation of centrosome disjunction (PubMed:26220856). Phosphorylates CCDC102B either directly or indirectly which causes CCDC102B to dissociate from the centrosome and allows for centrosome separation (PubMed:30404835)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a serine/threonine-protein kinase that is involved in mitotic regulation. This protein is localized to the centrosome, and undetectable during G1 phase, but accumulates progressively throughout the S phase, reaching maximal levels in late G2 phase. Alternatively spliced transcript variants encoding different isoforms with distinct C-termini have been noted 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 31, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 8, "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": "Q53FD6;Q5I1Z9;Q5VXZ1;Q6NZX8;Q7Z634;Q86XH2;Q96QN9", "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": "2.3.2.24", "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": "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:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0019903 protein phosphatase binding", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0046602 regulation of mitotic centrosome separation;GO:0000278 mitotic cell cycle;GO:0007059 chromosome segregation;GO:0051301 cell division;GO:0000086 G2/M transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "P51955-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SY16-1", "uniprot_id": [ { "id": "NOL9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SY16", "type": "external" } ], "mass": 79323.0, "length": 702, "protein_name": "Polynucleotide 5'-hydroxyl-kinase NOL9", "gene_name": "NOL9", "organism": "Human", "refseq_name": "polynucleotide 5'-hydroxyl-kinase NOL9 isoform X2", "refseq_ac": [ { "id": "XP_011540449", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_011540449", "type": "external" } ], "gene_names_uniprotkb": "NOL9", "gene_names_refseq": "Grc3; NET6; NOL9", "protein_names_uniprotkb": "Polynucleotide 5'-hydroxyl-kinase NOL9; 2.7.1.78; Nucleolar protein 9", "protein_names_refseq": "polynucleotide 5'-hydroxyl-kinase NOL9 isoform X2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79707); (R-HSA-6791226)", "pathway_count": 2, "publication_count": 101, "publication_id_list": "11922599;12068309;12150911;12429849;16037817;16043514;16738141;17189298;17353269;17412707;18065403;18438418;18452278;19106111;19332556;19564402;19801658;20038530;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21406692;22072790;22190735;22195017;22223895;22916032;23186163;23439679;23482395;2388630;24424021;24550520;24714562;24715725;25525153;25576301;25645385;25880248;25892735;25969445;26154972;26237581;26728094;26992070;27600516;27846572;27893789;27920218;28228285;28514659;28832583;28855257;28904123;29242379;29493099;29557506;29632711;29769354;29786170;29789417;30192525;30315122;30410026;30429286;30524438;31288032;31844290;32157095;32357974;32488085;32502341;32938616;33123756;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33968037;34171305;34185709;34509645;34932366;35051231;35318648;35580925;36010968;36241641;36284347;37938771;9482744", "class_list": "", "function": "Polynucleotide kinase that can phosphorylate the 5'-hydroxyl groups of single-stranded and double-stranded RNA and DNA substrates (PubMed:21063389). Involved in rRNA processing and its kinase activity is required for the processing of the 32S precursor into 5.8S and 28S rRNAs, more specifically for the generation of the major 5.8S(S) form (PubMed:21063389). Required for the efficient pre-rRNA processing of internal transcribed spacer 2 (ITS2) (PubMed:21063389). Associates with LAS1L to form an ITS2 pre-rRNA endonuclease-kinase complex and is responsible for the transport of this complex into the nucleolus (PubMed:31288032)., [UniProtKB, 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 18, "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": "Q2NL84;Q4VBY3;Q6P472;Q7L4D6;Q96EE0;Q9H5L4", "ec_number_list": [ { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "3.1.3.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.32", "type": "external" }, { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" } ], "go_molecular_function": "GO:0046404 ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity;GO:0051736 ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0051731 polynucleotide 5'-hydroxyl-kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016020 membrane", "go_biological_process": "GO:0000460 maturation of 5.8S rRNA;GO:0000448 cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q5SY16-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q00059-1", "uniprot_id": [ { "id": "TFAM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q00059", "type": "external" } ], "mass": 29097.0, "length": 246, "protein_name": "Transcription factor A, mitochondrial", "gene_name": "TFAM", "organism": "Human", "refseq_name": "transcription factor A, mitochondrial isoform 2 precursor", "refseq_ac": [ { "id": "NP_001257711", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257711", "type": "external" } ], "gene_names_uniprotkb": "TFAM; TCF6L2; TCF6", "gene_names_refseq": "MTDPS15; MTTF1; MTTFA; TCF6L1; TCF6L2; TCF6L3; TCF6; TFAM", "protein_names_uniprotkb": "Transcription factor A, mitochondrial; Mitochondrial transcription factor 1; MtTF1; TCF-6; Transcription factor 6-like 2; Transcription factor 6; mtTFA", "protein_names_refseq": "mitochondrial transcription factor 1; mitochondrial transcription factor A; transcription factor 6-like 1; transcription factor 6-like 2 (mitochondrial transcription factor); transcription factor 6-like 3; transcription factor 6; transcription factor A, mitochondrial isoform 2 precursor", "tax_id": 9606, "disease": "mitochondrial DNA depletion syndrome 15 (Disease Ontology:DOID:0080337); Alzheimer's disease (Disease Ontology:DOID:10652); Huntington's disease (Disease Ontology:DOID:12858); Kearns-Sayre syndrome (Disease Ontology:DOID:12934); Parkinson's disease (Disease Ontology:DOID:14330); status epilepticus (Disease Ontology:DOID:1824); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:7019); (R-HSA-163282); (R-HSA-2151201); (R-HSA-9837999)", "pathway_count": 4, "publication_count": 117, "publication_id_list": "10412986;10643692;10713165;11237011;11340167;11809803;11923310;12068295;12198491;12374852;12563009;12745923;12897151;14623864;15522782;15526033;15684387;15870080;16079181;16079853;1610904;16115876;16788062;16890199;16908542;16911507;17031457;17101804;17297443;1737790;17437997;17579211;17715127;17923681;18028422;18063578;18215119;18343819;18669648;18680753;19001277;19054851;19096125;19192634;19304746;19356719;19417006;19841671;19951946;20068231;2035027;20410300;21081181;22037171;22037172;22262461;22645359;22710082;22841477;23186163;23201127;23301498;23931759;24315374;24520911;25802875;26504172;26923599;26992070;27448789;27496948;27642048;28377575;28396416;28510447;28832583;28904123;29149603;29301859;29445193;29493099;29632046;29932645;30120231;31217245;31327635;31695197;31844290;32183942;32350084;32357974;32371956;33257573;33298915;33465208;33592498;33633747;33936100;33968037;34171305;34357683;34704252;34943861;35251023;35494241;35870450;3594571;36629048;37217939;40596516;7623837;7629110;7799916;8108407;8333869;9178750;9286700", "class_list": "", "function": "Binds to the mitochondrial light strand promoter and functions in mitochondrial transcription regulation (PubMed:29445193, PubMed:32183942). Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT that is required for basal transcription of mitochondrial DNA (PubMed:29149603). In this complex, TFAM recruits POLRMT to a specific promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand (PubMed:20410300). Required for accurate and efficient promoter recognition by the mitochondrial RNA polymerase (PubMed:22037172). Promotes transcription initiation from the HSP1 and the light strand promoter by binding immediately upstream of transcriptional start sites (PubMed:22037172). Is able to unwind DNA (PubMed:22037172). Bends the mitochondrial light strand promoter DNA into a U-turn shape via its HMG boxes (PubMed:1737790). Required for maintenance of normal levels of mitochondrial DNA (PubMed:19304746, PubMed:22841477). May play a role in organizing and compacting mitochondrial DNA (PubMed:22037171)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Comparison between the 5'UTR length and the distribution of the different transcripts showed that the transcripts with the shortest TFAM 5'UTR are present in all the investigated tissues, while the longest 5'UTR seems to be related to tissue-specificity, [RefSeq, PubMed]; Data show that overexpression of delta 5Tfam causes an increase of mitochondrial transcription, so also this isoform as a role in the mitochondrial process., [RefSeq, PubMed]; Data suggested that the mitochondrial targeting sequence of hTFAM may extend beyond the cleavable presequence., [RefSeq, PubMed]; This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "reported_glycation": 0, "reported_snv": 4, "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": "A8MRB2;A9QXC6;B5BU05;Q5U0C6", "ec_number_list": [], "go_molecular_function": "GO:0001018 mitochondrial promoter sequence-specific DNA binding;GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0031072 heat shock protein binding;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0042645 mitochondrial nucleoid", "go_biological_process": "GO:0006391 transcription initiation at mitochondrial promoter;GO:0007584 response to nutrient;GO:0001666 response to hypoxia;GO:0006390 mitochondrial transcription;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q00059-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UIM3-1", "uniprot_id": [ { "id": "FKBPL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UIM3", "type": "external" } ], "mass": 38176.0, "length": 349, "protein_name": "FK506-binding protein-like", "gene_name": "FKBPL", "organism": "Human", "refseq_name": "FK506-binding protein-like", "refseq_ac": [ { "id": "NP_071393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071393", "type": "external" } ], "gene_names_uniprotkb": "FKBPL; DIR1; NG7", "gene_names_refseq": "DIR1; FKBPL; NG7; WISP39", "protein_names_uniprotkb": "FK506-binding protein-like; WAF-1/CIP1 stabilizing protein 39; WISp39", "protein_names_refseq": "FK506 binding protein like; FK506-binding protein-like; WAF-1/CIP1 stabilizing protein 39; peptidyl-prolyl cis-trans isomerase", "tax_id": 9606, "disease": "", "pathway": " (hsa:63943); (R-HSA-8852276)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "10521921;14656967;15664193;17525332;18669603;20018861;20577264;23186163;23236459;26154972;27846572;28832583;29242379;29557506;31848261;32938616;33968037;34149611;34212559;35051231;36284347;36295491;36830764;9844631", "class_list": "", "function": "A novel mutation in FK506 binding protein-like (FKBPL) causes male infertility., [RefSeq, PubMed]; FK506-Binding Protein like (FKBPL) Has an Important Role in Heart Failure with Preserved Ejection Fraction Pathogenesis with Potential Diagnostic Utility. Publication Status: Online-Only, [RefSeq, PubMed]; FKBPL and SIRT-1 Are Downregulated by Diabetes in Pregnancy Impacting on Angiogenesis and Endothelial Function. Publication Status: Online-Only, [RefSeq, PubMed]; FKBPL can be classed as a new member of the FKBP protein family with a role in steroid receptor complexes and signaling., [RefSeq, PubMed]; Loss of Expression of Antiangiogenic Protein FKBPL in Endometrioid Endometrial Carcinoma: Implications for Clinical Practice. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in response to X-ray. Regulates p21 protein stability by binding to Hsp90 and p21., [UniProtKB, PubMed]; Results demonstrate the importance of posttranslational stabilization of p21 protein by WISp39 in regulating cellular p21 activity., [RefSeq, PubMed]; The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is thought to have a potential role in the induced radioresistance. Also it appears to have some involvement in the control 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8K5V3;B0UYX8;Q9H5G3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol", "go_biological_process": "GO:0009314 response to radiation", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9UIM3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14088-1", "uniprot_id": [ { "id": "RB33A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14088", "type": "external" } ], "mass": 26593.0, "length": 237, "protein_name": "Ras-related protein Rab-33A", "gene_name": "RAB33A", "organism": "Human", "refseq_name": "ras-related protein Rab-33A", "refseq_ac": [ { "id": "NP_004785", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004785", "type": "external" } ], "gene_names_uniprotkb": "RAB33A; RABS10", "gene_names_refseq": "RAB33A; RabS10", "protein_names_uniprotkb": "Ras-related protein Rab-33A; 3.6.5.2; Small GTP-binding protein S10", "protein_names_refseq": "Small GTP-binding protein S10; ras-related protein Rab-33A", "tax_id": 9606, "disease": "", "pathway": " (hsa:9363); (R-HSA-8854214); (R-HSA-8873719)", "pathway_count": 3, "publication_count": 62, "publication_id_list": "10202141;11141079;11389151;11447212;11675392;16055087;16136464;16395330;16401880;1648736;17114793;17411337;17658474;17901050;18199687;18319245;18466115;18532927;19603039;20095038;20116244;20363736;20404108;21383079;21458671;22219378;22613832;22694141;22762500;22795129;22854040;23019362;23562278;24023390;25341920;25880248;26969162;28904123;29437277;29557506;31217245;31844290;32357974;32897882;33298915;33912179;34078123;34357683;34433824;34932366;35051231;39894887;7688322;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8662963;8836150", "class_list": "", "function": "Expression was down-regulated in patients with TB and was predominantly expressed in CD8+ T cells., [RefSeq, PubMed]; The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It is GTP-binding protein and may be involved in vesicle transport. [provided by RefSeq, Jul 2008]., [RefSeq]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (By similarity). 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 (By similarity). Modulates autophagosome formation through interaction with ATG16L1 (By similarity)., [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": 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": "Q5JUZ6;Q92465", "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": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "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:0046872 metal ion binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0032482 Rab protein signal transduction;GO:0019882 antigen processing and presentation", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q14088-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q712K3-1", "uniprot_id": [ { "id": "UB2R2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q712K3", "type": "external" } ], "mass": 27166.0, "length": 238, "protein_name": "Ubiquitin-conjugating enzyme E2 R2", "gene_name": "UBE2R2", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 R2", "refseq_ac": [ { "id": "NP_060281", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060281", "type": "external" } ], "gene_names_uniprotkb": "UBE2R2; CDC34B; UBC3B", "gene_names_refseq": "CDC34B; E2-CDC34B; UBC3B; UBE2R2", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 R2; 2.3.2.23; E2 ubiquitin-conjugating enzyme R2; Ubiquitin carrier protein R2; Ubiquitin-conjugating enzyme E2-CDC34B; Ubiquitin-protein ligase R2", "protein_names_refseq": "E2 ubiquitin-conjugating enzyme R2; ubiquitin carrier protein R2; ubiquitin conjugating enzyme E2R 2; ubiquitin-conjugating enzyme E2 R2; ubiquitin-conjugating enzyme E2-CDC34B; ubiquitin-conjugating enzyme UBC3B; ubiquitin-protein ligase R2", "tax_id": 9606, "disease": "azoospermia (Disease Ontology:DOID:14227); congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:54926); (R-HSA-8866652); (R-HSA-983168)", "pathway_count": 3, "publication_count": 69, "publication_id_list": "10.1021/acs.analchem.6b02887;11062501;11350924;12037680;12646216;14734113;15224091;15224092;15571818;16142244;16595681;16849449;16954532;17580310;17597759;18353650;18662542;18669648;19028597;19352404;19452197;19489725;19851296;19851334;19874575;19940261;20061386;20198315;2261476;26154972;26235645;26992070;27044868;28035807;28218747;28514659;28657654;28832583;28855257;28904123;29789417;30315122;30410026;31844290;31848261;31868589;32157095;32161166;32357974;32488085;32983136;33912179;33936100;33968037;33981976;34561969;34942047;36010968;36241641;36284347;38253038;38326650;6277905;6305978;7851534;8010951;9380723;9521656;9668046", "class_list": "", "function": "E2 ubiquitin-conjugating enzyme that accepts ubiquitin from an E1 ubiquitin-activating protein, and catalyzes its covalent attachment to other proteins by an E3 ubiquitin-protein ligase complex (PubMed:12037680, PubMed:20061386, PubMed:38326650). In vitro catalyzes monoubiquitination and 'Lys-48'-linked polyubiquitination (PubMed:12037680, PubMed:20061386, PubMed:38326650). Works in collaboration with various Cul1-RING and Cul2-RING E3 ligase complexes (PubMed:38326650). May be involved in degradation of katenin (PubMed:12037680)., [UniProtKB, PubMed, PubMed, PubMed]; Functional conservation and divergence of the helix-turn-helix motif of E2 ubiquitin-conjugating enzymes., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Protein kinase CK2 is a ubiquitous and pleiotropic Ser/Thr protein kinase involved in cell growth and transformation. This gene encodes a protein similar to the E2 ubiquitin conjugating enzyme UBC3/CDC34. Studies suggest that CK2-dependent phosphorylation of this ubiquitin-conjugating enzyme functions by regulating beta-TrCP substrate recognition and induces its interaction with beta-TrCP, enhancing beta-catenin degradation. [provided by RefSeq, Jul 2008]., [RefSeq]; Study shows that Ube2R1/2 forms a salt bridge interaction between a conserved Asp residue on Ube2R1/2 and acceptor ubiquitin residue Arg 54 and that perturbation of this interaction leads to the severe loss of UbeR2 activity. Results also provide new insight into how the Ube2R1/2 acidic loop may participate in catalysis. Publication Status: Online-Only, [RefSeq, PubMed]; UBE2R2 alone had negligible ubiquitylation activity at physiological concentrations and the ablation of UBE2R1/2 had no effect on the stability of SCF substrates in cells. A genome-wide CRISPR screen revealed that an additional E2 enzyme, UBE2G1, buffers against the loss of UBE2R1/2. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 2, "reported_phosphosites": 4, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 5, "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": "D3DRL5;Q9NX64", "ec_number_list": [ { "id": "6.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.45", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "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": "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": "2.3.2.36", "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:0005524 ATP binding;GO:0004842 ubiquitin-protein transferase activity;GO:0061631 ubiquitin conjugating enzyme activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0070936 protein K48-linked ubiquitination;GO:0006513 protein monoubiquitination", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q712K3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4P8-1", "uniprot_id": [ { "id": "WIPI2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4P8", "type": "external" } ], "mass": 49408.0, "length": 454, "protein_name": "WD repeat domain phosphoinositide-interacting protein 2", "gene_name": "WIPI2", "organism": "Human", "refseq_name": "WD repeat domain phosphoinositide-interacting protein 2 isoform c", "refseq_ac": [ { "id": "NP_001028690", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028690", "type": "external" } ], "gene_names_uniprotkb": "WIPI2; CGI-50", "gene_names_refseq": "ATG18B; Atg21; CGI-50; IDDSSA; WIPI-2; WIPI2", "protein_names_uniprotkb": "WD repeat domain phosphoinositide-interacting protein 2; WIPI-2; WIPI49-like protein 2", "protein_names_refseq": "WD repeat domain phosphoinositide-interacting protein 2 isoform c; WD repeat domain phosphoinositide-interacting protein 2; WD40 repeat protein interacting with phosphoinositides 2; WIPI49-like protein 2", "tax_id": 9606, "disease": "Huntington's disease (Disease Ontology:DOID:12858); intellectual developmental disorder with short stature and variable skeletal anomalies (MONDO:MONDO:0032759)", "pathway": " (hsa:26100); (R-HSA-1632852)", "pathway_count": 2, "publication_count": 86, "publication_id_list": "11096062;11230166;11825910;15187094;15602573;16963840;17322306;17618624;18321988;18439900;18669648;18767875;19211835;19322194;19413330;19590496;19664994;19855179;19898463;20059746;20505359;20713597;20921139;21177865;21205641;21258367;21383122;21460621;21564513;21575909;21819378;22170151;22456507;22682742;23186163;23202584;23301498;23434374;23481700;23685627;23727157;23884233;23916833;24715725;24747438;24954904;25484072;25568151;28218747;28561066;28832583;28834231;28890335;28904123;29242379;29393594;29437277;30315122;30429286;30524438;30968111;31092671;31154438;31530632;31844290;32157095;32161166;32350084;32387766;32502341;32938616;33499712;33592498;33691108;33717175;33912179;33968037;34357683;34505572;35051231;35154160;35580925;36872914;39152217;39284914;7628435", "class_list": "", "function": "A role for WIPI2 in the progression of omegasomes into autophagosomes, is reported. GeneRIF: WIPI2 is a phosphatidylinsitol-3-phosphate binding protein required for starvation induced autophagy., [RefSeq, PubMed]; Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (PubMed:20505359, PubMed:28561066). Involved in an early step of the formation of preautophagosomal structures (PubMed:20505359, PubMed:28561066). Binds and is activated by phosphatidylinositol 3-phosphate (PtdIns3P) forming on membranes of the endoplasmic reticulum upon activation of the upstream ULK1 and PI3 kinases (PubMed:28561066). Mediates ER-isolation membranes contacts by interacting with the ULK1:RB1CC1 complex and PtdIns3P (PubMed:28890335). Once activated, WIPI2 recruits at phagophore assembly sites the ATG12-ATG5-ATG16L1 complex that directly controls the elongation of the nascent autophagosomal membrane (PubMed:20505359, PubMed:28561066)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Freeze-fracture replica immunolabelling reveals WD-repeat protein interacting with phosphoinositides 1 and 2 (WIPI-1 and WIPI-2) as membrane components of autophagosomes and the plasma membrane (PM)., [RefSeq, PubMed]; Recruits the ATG12-ATG5-ATG16L1 complex to omegasomes and preautophagosomal structures, resulting in ATG8 family proteins lipidation and starvation-induced autophagy. Isoform 4 is also required for autophagic clearance of pathogenic bacteria. Isoform 4 binds the membrane surrounding Salmonella and recruits the ATG12-5-16L1 complex, initiating LC3 conjugation, autophagosomal membrane formation, and engulfment of Salmonella., [UniProtKB, PubMed]; STING directly recruits WIPI2 for autophagosome formation during STING-induced autophagy., [RefSeq, PubMed]; Structural basis for membrane recruitment of ATG16L1 by WIPI2 in autophagy. Publication Status: Online-Only, [RefSeq, PubMed]; WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI2, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008]., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "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": "B3KNC2;Q5MNZ8;Q6FI96;Q75L50;Q96IE4;Q9Y364", "ec_number_list": [], "go_molecular_function": "GO:0010314 phosphatidylinositol-5-phosphate binding;GO:0030674 protein-macromolecule adaptor activity;GO:0080025 phosphatidylinositol-3,5-bisphosphate binding;GO:0032266 phosphatidylinositol-3-phosphate binding", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005829 cytosol;GO:0034045 phagophore assembly site membrane;GO:0000407 phagophore assembly site;GO:0032991 protein-containing complex", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0034497 protein localization to phagophore assembly site;GO:0009267 cellular response to starvation;GO:0000422 autophagy of mitochondrion;GO:0044804 nucleophagy", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q9Y4P8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02446-1", "uniprot_id": [ { "id": "SP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02446", "type": "external" } ], "mass": 81985.0, "length": 784, "protein_name": "Transcription factor Sp4", "gene_name": "SP4", "organism": "Human", "refseq_name": "transcription factor Sp4 isoform 3", "refseq_ac": [ { "id": "NP_001313472", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001313472", "type": "external" } ], "gene_names_uniprotkb": "SP4", "gene_names_refseq": "HF1B; SP4; SPR-1", "protein_names_uniprotkb": "Transcription factor Sp4; SPR-1", "protein_names_refseq": "transcription factor Sp4 isoform 3", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930); congenital heart disease (Disease Ontology:DOID:1682); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:6671)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "11237011;1454515;18669648;19413330;19664995;20068231;23186163;24475768;24715725;25576301;25915526;26049820;26154972;26431879;28228285;28446606;28832583;29242379;29351928;29393594;29557506;29632711;30315122;30524438;31092671;31154438;31375868;31844290;32387766;32897882;32938616;32983136;33298915;33592498;33633747;33968037;34019948;34509645;35051231;35580925;36010968;36346067;36372009;36383136;37114256;37768180;39531497", "class_list": "", "function": "Binds to GT and GC boxes promoters elements. Probable transcriptional activator., [UniProtKB]; Common and rare variants within SP4 exert distinct molecular mechanisms contributing to the risk of schizophrenia., [RefSeq, PubMed]; SP4 Facilitates Esophageal Squamous Cell Carcinoma Progression by Activating PHF14 Transcription and Wnt/Beta-Catenin Signaling., [RefSeq, PubMed]; Sp4 Regulates PTTG1IP Gene Transcription and Expression., [RefSeq, PubMed]; The FOXP4-AS1/miR-3130-3p/SP4 feedback loop is associated with prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The genetic polymorphisms in the SP4 gene and the risk of gastric cancer., [RefSeq, PubMed]; The protein encoded by this gene is a transcription factor that can bind to the GC promoter region of a variety of genes, including those of the photoreceptor signal transduction system. The encoded protein binds to the same sites in promoter CpG islands as does the transcription factor SP1, although its expression is much more restricted compared to that of SP1. This gene may be involved in bipolar disorder and schizophrenia. [provided by RefSeq, May 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": 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 24, "binding_glycan_count": 0, "secondary_ac_list": "O60402;Q32M52", "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: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": 7.3, "record_id": "Q02446-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13257-1", "uniprot_id": [ { "id": "MD2L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13257", "type": "external" } ], "mass": 23510.0, "length": 205, "protein_name": "Mitotic spindle assembly checkpoint protein MAD2A", "gene_name": "MAD2L1", "organism": "Human", "refseq_name": "mitotic spindle assembly checkpoint protein MAD2A", "refseq_ac": [ { "id": "NP_002349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002349", "type": "external" } ], "gene_names_uniprotkb": "MAD2L1; MAD2", "gene_names_refseq": "HSMAD2; MAD2L1; MAD2", "protein_names_uniprotkb": "Mitotic spindle assembly checkpoint protein MAD2A; HsMAD2; MAD2-like protein 1; Mitotic arrest deficient 2-like protein 1", "protein_names_refseq": "MAD2 (mitotic arrest deficient, yeast, homolog)-like 1; MAD2 mitotic arrest deficient-like 1; MAD2-like protein 1; mitotic arrest deficient 2-like protein 1; mitotic arrest deficient, yeast, homolog-like 1; mitotic spindle assembly checkpoint protein MAD2A", "tax_id": 9606, "disease": "microcephaly (Disease Ontology:DOID:10907); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:4085); (R-HSA-141405); (R-HSA-141430); (R-HSA-141444); (R-HSA-174184); (R-HSA-176409); (R-HSA-179409); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 12, "publication_count": 177, "publication_id_list": "10411507;10527948;10600384;10678165;10679238;10700282;10958683;11081627;11181178;11237011;11285280;11371342;11390010;11509732;11535616;11742988;11804586;12006501;12194817;12429848;12456649;12574116;12577064;12679384;12732141;12805219;12852857;14730319;14978040;15006353;15020684;15024386;15085137;15339662;15507212;15723797;15737063;15864301;15866170;15944396;16292343;16439214;16495226;16541025;16622419;16622420;16648845;16682347;16890222;16943183;17030981;17112726;17113138;17129783;17196341;17198702;1737036;18001770;18022367;18022368;18097444;18318601;18712773;18716626;18794143;18923426;18981471;19010891;19029339;19350017;19696148;19815554;19965387;20030946;20034488;20101212;20591975;21041666;21111234;21148482;21397845;21576392;21868368;21878504;21987589;22094460;22275430;22608513;22790947;22885700;23186163;23222643;23801653;24714562;24715725;24914801;25418920;25422469;25576301;25740311;25789526;25880248;25892735;26154972;26183163;26929215;26992070;27509861;27600516;27846572;27920218;28228285;28514659;28832583;28834231;28904123;29162720;29242379;29508533;29557506;29769354;29786170;30315122;30429286;30524438;30779550;31092671;31217245;31222486;31409757;31530632;31844290;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32637030;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33936100;33968037;33981976;34087483;34171305;34260926;34357683;34509645;34561969;34932366;35051231;35251023;35309941;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37468549;37752233;37938771;38698201;8824189;9637688;9649308;9649503;9892021", "class_list": "", "function": "CAMK2D serves as a molecular scaffold for RNF8-MAD2 complex to induce mitotic checkpoint in glioma., [RefSeq, PubMed]; Component of the mitotic checkpoint complex (MCC), which inhibits APC/C and delays chromosome segregation until all chromosomes are properly attached to the mitotic spindle (PubMed:10700282, PubMed:11804586, PubMed:15024386, PubMed:29162720, PubMed:27509861). The MCC, which consists of CDC20, MAD2L1/MAD2, BUB1B/BUBR1 and BUB3, is a key player of the spindle assembly checkpoint (PubMed:15020684, PubMed:27509861). The MCC-bound APC/C complex is inactive and this delays the metaphase/anaphase transition (PubMed:27509861). When the spindle assembly checkpoint is silenced, the MCC-APC/C complex recruits the E2 enzyme UBCH10 and triggers the auto-ubiquitination of CDC20 in the MCC, thereby reactivating APC/C for transition into anaphase (PubMed:27509861). In the closed conformation (C-MAD2) forms a heterotetrameric complex with MAD1L1 at unattached kinetochores during prometaphase, the complex recruits open conformation molecules of MAD2L1 (O-MAD2) and then promotes the conversion of O-MAD2 to C-MAD2 (PubMed:29162720)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Exosomal miR-493 suppresses MAD2L1 and induces chemoresistance to intraperitoneal paclitaxel therapy in gastric cancer patients with peritoneal metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; MAD2 activates IGF1R/PI3K/AKT pathway and promotes cholangiocarcinoma progression by interfering USP44/LIMA1 complex., [RefSeq, PubMed]; MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. MAD2L1 is related to the MAD2L2 gene located on chromosome 1. A MAD2 pseudogene has been mapped to chromosome 14. [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": 16, "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": "Q53F56;Q548X9;Q6IRW7;Q8IZX3", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0044615 nuclear pore nuclear basket;GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0051301 cell division;GO:0045930 negative regulation of mitotic cell cycle;GO:0007094 mitotic spindle assembly checkpoint signaling;GO:0042177 negative regulation of protein catabolic process;GO:1904667 negative regulation of ubiquitin protein ligase activity", "synthesized_glycan_count": 0, "hit_score": 17.8, "record_id": "Q13257-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86V81-1", "uniprot_id": [ { "id": "THOC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86V81", "type": "external" } ], "mass": 26888.0, "length": 257, "protein_name": "THO complex subunit 4", "gene_name": "ALYREF", "organism": "Human", "refseq_name": "THO complex subunit 4", "refseq_ac": [ { "id": "NP_005773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005773", "type": "external" } ], "gene_names_uniprotkb": "ALYREF; ALY; BEF; THOC4", "gene_names_refseq": "ALY/REF; ALYREF; ALY; BEF; REF; THOC4", "protein_names_uniprotkb": "THO complex subunit 4; Ally of AML-1 and LEF-1; Aly/REF export factor; Tho4; Transcriptional coactivator Aly/REF; bZIP-enhancing factor BEF", "protein_names_refseq": "THO complex 4; THO complex subunit 4; ally of AML-1 and LEF-1; bZIP enhancing factor; bZIP-enhancing factor BEF; tho4; transcriptional coactivator Aly/REF", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:10189); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236); (R-HSA-72163); (R-HSA-72187); (R-HSA-9918481)", "pathway_count": 8, "publication_count": 255, "publication_id_list": "10228171;10323864;10488337;10489353;10668806;10882114;11014198;11073998;11101529;11118221;11233976;11237011;11256625;11259411;11259602;11546873;11579093;11675789;11707413;11739738;11747608;11756420;11979277;11991638;12003494;12093754;12176931;12411573;12414731;12438613;12477934;12871933;12944400;14519844;14625303;14713954;14730019;14762106;15084397;15120988;15782174;15833825;15998806;16314397;16314458;16809785;17000901;17095540;17190602;17234882;17317185;17332742;17606899;17984224;18322460;18364396;18411249;18423201;18562279;18593880;18957205;18974867;19103666;19165146;19165350;19324961;19494120;19531498;19536130;19586903;19690332;19836239;20068231;20129943;2017161;20423332;20573985;20630994;20844015;20980672;21253573;21406692;21536652;2176635;21911577;21947206;22110043;22144908;22207203;22365833;22732409;22869377;22893130;22928037;22959432;22961380;23186163;23222130;23236153;23299939;23345524;23481700;23582887;23804756;23826332;24029068;24129315;24196718;24244187;24304693;24448447;24714562;24715725;24737827;24914973;25418920;25555158;25576301;2558966;25645385;25662211;25810538;25836925;26092250;26154972;26375851;26385511;26420826;26728094;26768311;26811146;26929215;26969736;26992070;27108190;27377154;27397612;27459055;27600516;27683217;27846572;27920218;28062851;28076346;28218747;28228285;28418038;28502770;28649982;28781166;28832583;28834231;28904123;29242379;29301961;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632711;2963332;29786170;29902443;30192525;30315122;30315277;30410026;30538201;30599162;30705154;30728453;30765414;30975767;31154438;31217245;31222486;31409651;31530632;31611695;31844290;31848261;31937595;31998317;32157095;32161166;32179686;32329775;32357974;32387766;32488085;32494006;32502341;32897882;32938616;32983136;33043033;33091337;33123756;33141586;33177556;33214551;33243851;33298915;33392160;33446560;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34301950;34509645;34561969;34822310;34932366;35051231;35215846;35318648;35385551;35561310;35580925;36241641;36284347;37020021;37217939;3757028;37938771;38135116;38361753;38626369;39117671;39894887;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9618489;9660949;9671485;9701291;9731529;9952027", "class_list": "", "function": "(Microbial infection) The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production; ALYREF/THOC4 mediates the recruitment of the TREX complex to the intronless viral mRNA., [UniProtKB, PubMed, PubMed]; ALYREF (Aly/REF export factor): A potential biomarker for predicting cancer occurrence and therapeutic efficacy. Review article, [RefSeq, PubMed]; ALYREF promotes the metastasis of nasopharyngeal carcinoma by increasing the stability of NOTCH1 mRNA. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as an mRNA export adapter; component of the transcription/export (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 (PubMed:15833825, PubMed:15998806, PubMed:17190602). 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/NXF1 pathway (PubMed:15833825, PubMed:15998806, PubMed:17190602). Involved in the nuclear export of intronless mRNA; proposed to be recruited to intronless mRNA by ATP-bound DDX39B (PubMed:17984224). Plays a key role in mRNP recognition and mRNA packaging by bridging the mRNP-bound EJC and the TREX core complex (PubMed:37020021). TREX recruitment occurs via an interaction between ALYREF/THOC4 and the cap-binding protein NCBP1 (PubMed:15833825, PubMed:15998806, PubMed:17190602, PubMed:37020021). Required for TREX complex assembly and for linking DDX39B to the cap-binding complex (CBC) (PubMed:15998806, PubMed:17984224, PubMed:37020021). Binds mRNA which is thought to be transferred to the NXF1-NXT1 heterodimer for export (TAP/NXF1 pathway) (PubMed:11675789, PubMed:11707413, PubMed:11979277, PubMed:15833825, PubMed:15998806, PubMed:17190602, PubMed:18364396, PubMed:22144908, PubMed:22893130, PubMed:23222130, PubMed:25662211). In conjunction with THOC5 functions in NXF1-NXT1 mediated nuclear export of HSP70 mRNA; both proteins enhance the RNA binding activity of NXF1 and are required for NXF1 localization to the nuclear rim (PubMed:19165146). Involved in mRNA export of C5-methylcytosine (m5C)-containing mRNAs: specifically recognizes and binds m5C mRNAs and mediates their nucleo-cytoplasmic shuttling (PubMed:28418038). Acts as a chaperone and promotes the dimerization of transcription factors containing basic leucine zipper (bZIP) domains and thereby promotes transcriptional activation (PubMed:10488337). Involved in transcription elongation and genome stability (PubMed:12438613)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; HnRNPA2B1 ISGylation Regulates m6A-Tagged mRNA Selective Export via ALYREF/NXF1 Complex to Foster Breast Cancer Development., [RefSeq, PubMed]; Pan-cancer analysis of RNA 5-methylcytosine reader (ALYREF). Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a heat stable, nuclear protein and functions as a molecular chaperone. It is thought to regulate dimerization, DNA binding, and transcriptional activity of basic region-leucine zipper (bZIP) proteins. [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": 5, "reported_glycation": 0, "reported_snv": 1, "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": "O43672", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0062153 C5-methylcytidine-containing RNA reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0016071 mRNA metabolic process;GO:0006397 mRNA processing;GO:0006406 mRNA export from nucleus;GO:0008380 RNA splicing;GO:0001649 osteoblast differentiation", "synthesized_glycan_count": 0, "hit_score": 25.8, "record_id": "Q86V81-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y618-1", "uniprot_id": [ { "id": "NCOR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y618", "type": "external" } ], "mass": 273657.0, "length": 2514, "protein_name": "Nuclear receptor corepressor 2", "gene_name": "NCOR2", "organism": "Human", "refseq_name": "nuclear receptor corepressor 2 isoform 2", "refseq_ac": [ { "id": "NP_001070729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070729", "type": "external" } ], "gene_names_uniprotkb": "NCOR2; CTG26", "gene_names_refseq": "CTG26; N-CoR2; NCOR2; SMAP270; SMRTE-tau; SMRTE; SMRT; TNRC14; TRAC-1; TRAC1", "protein_names_uniprotkb": "Nuclear receptor corepressor 2; CTG repeat protein 26; N-CoR2; SMAP270; SMRT; Silencing mediator of retinoic acid and thyroid hormone receptor; T3 receptor-associating factor; TRAC; Thyroid-, retinoic-acid-receptor-associated corepressor", "protein_names_refseq": "CTG repeat protein 26; nuclear receptor corepressor 2 isoform 2; silencing mediator for retinoid and thyroid hormone receptors; thyroid-, retinoic-acid-receptor-associated corepressor", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); breast cancer (Disease Ontology:DOID:1612); endometrial carcinoma (Disease Ontology:DOID:2871); myelofibrosis (Disease Ontology:DOID:4971); osteoarthritis (Disease Ontology:DOID:8398)", "pathway": " (hsa:9612); (R-HSA-1989781); (R-HSA-2122947); (R-HSA-2173795); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-3214815); (R-HSA-350054); (R-HSA-381340); (R-HSA-383280); (R-HSA-3899300); (R-HSA-400206); (R-HSA-9022537); (R-HSA-9022692); (R-HSA-9029569); (R-HSA-9609690); (R-HSA-9623433); (R-HSA-9707564); (R-HSA-9841922); (R-HSA-9976102)", "pathway_count": 20, "publication_count": 445, "publication_id_list": "10075656;10077563;10097068;10197981;10199400;10206645;10235266;10425206;10444591;10449787;10485843;10494028;10529898;10531062;10535941;10542397;10549282;10558993;10587642;10587654;10713164;10748112;10777541;10809664;10835357;10858438;10879540;10882063;10882139;10904264;10922406;10926844;10944117;10964718;11006133;11027271;11044625;11095972;11112321;11149950;11226238;11237011;11267664;11330046;11331609;11389444;11427533;11461910;11477070;11500512;11509652;11533236;11585921;11604492;11739383;11740940;11742974;11779144;11842083;11865025;11872672;11875109;11909966;11931768;12032151;12032298;12050117;12118000;12150943;12150977;12177166;12209127;12213831;12354787;12374742;12391150;12454263;12505311;12529333;12530964;12554770;12582161;12612088;12679040;12718889;12724404;12829629;12857923;12969439;1310260;14572640;14690607;14703507;14764426;14980219;15067378;15107403;15130092;15147902;15175151;15273253;15322089;15454082;15494311;15546612;15574878;15632172;15635043;15760269;15766567;15820681;15824097;15829515;15850785;15896744;15919796;15958389;15976810;16093323;16098147;16121196;16140760;16156666;16256737;16380219;16476485;16503871;16530044;16530045;16568091;16738328;16751101;16751102;16751179;16757475;16871576;16972786;17003037;17007889;17011499;17046689;17079232;17081983;17081986;17114293;17157496;17186944;17211407;17264172;17298944;17306620;17369852;17401372;17438144;17510063;17535915;17591695;17592128;17646408;17646409;17761950;17803295;17942393;17980149;17994015;18043734;18077452;18082607;18094723;18203656;18211901;18212045;18220336;18288277;18292238;18296446;18339323;18374649;18446792;18488044;18535146;18540824;18568018;18669648;18719978;18782758;18824583;18824585;18848529;18931025;19043829;19088433;19115207;19135894;19151708;19172745;19225110;19240082;19289416;19331822;19481530;19524514;19596686;19608861;19615980;19682613;19690164;19690332;19710929;19726682;19786558;19820693;19858209;19917253;19934321;19968714;19995069;20068230;20068231;20098713;20101261;20110263;20176810;20466882;20466885;20494359;20543827;20566875;20676127;20812024;20855588;20929863;20972443;21095583;21187453;21240272;21310851;21338522;21406692;21507939;21527249;21587264;21690215;21889235;22045334;22174689;22230954;22381047;22427940;22467880;22541735;22673513;22713328;22888005;22898188;23186163;23239344;23372760;23404503;23481700;23496987;23519696;23673342;23770565;23770587;23783831;23790976;23911289;24129315;24196956;24275569;25114211;25218447;25418920;25576301;25645385;25800734;25892735;26101246;26239616;26375851;26572645;26728094;26768311;26984517;27071062;2713875;27153775;27501258;27600516;27862975;27869121;27920218;28082258;28218747;28228285;28415052;28510447;28657654;28698372;28832583;28834231;28842423;28855257;28869506;29237092;29242379;29331515;29351928;29393594;29493099;29508533;29557506;29577978;29632046;29632711;29769354;29772548;29786170;29789417;30059200;30315122;30341416;30360396;30379171;30410026;30429286;30620550;30761409;30779550;30784271;30833945;31092671;31154438;31217245;31222486;31492838;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32502341;32574038;32897882;32938616;32938750;32983136;33123756;33141586;33214551;33298915;33329381;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34211107;3427020;34405274;34509645;34561969;3475708;34846842;34932366;35051231;35132862;35154160;35254053;35289036;35318648;35513511;35580925;36010968;36215666;36241641;36284347;36316474;36581221;37340703;37461232;37541260;37938771;38253038;38665916;38838015;39302247;39531497;39534244;40136647;41350704;6094553;7513682;7566092;7566127;7588063;7685352;7892212;8001118;8325954;8386511;8521497;8521498;8643605;8647822;8649374;8687460;8706692;8770873;8813722;8970730;9012850;9065481;9150135;9171241;9225980;9244301;9315665;9454824;9462510;9604939;9620803;9620804;9651585;9651681;9653119;9694793;9744270;9748239;9790534;9819428;9836620", "class_list": "", "function": "Isoform 1 and isoform 4 have different affinities for different nuclear receptors., [UniProtKB, PubMed]; Keratin-Positive Giant Cell-Rich Tumor of Bone Harboring an HMGA2::NCOR2 Fusion: Two Cases, Including a Patient With Metastatic Disease, and Review of the Literature. Review article, [RefSeq, PubMed]; Nuclear corepressors NCOR1/NCOR2 regulate B cell development, maintain genomic integrity and prevent transformation., [RefSeq, PubMed]; This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011]., [RefSeq]; Transcriptional corepressor that mediates the transcriptional repression activity of some nuclear receptors by promoting chromatin condensation, thus preventing access of the basal transcription (PubMed:10077563, PubMed:10097068, PubMed:18212045, PubMed:20812024, PubMed:22230954, PubMed:23911289). Acts by recruiting chromatin modifiers, such as histone deacetylases HDAC1, HDAC2 and HDAC3 (PubMed:22230954). Required to activate the histone deacetylase activity of HDAC3 (PubMed:22230954). Involved in the regulation BCL6-dependent of the germinal center (GC) reactions, mainly through the control of the GC B-cells proliferation and survival (PubMed:18212045, PubMed:23911289). Recruited by ZBTB7A to the androgen response elements/ARE on target genes, negatively regulates androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "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": 56, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 56, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 56, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 43, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 130, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 61, "binding_glycan_count": 0, "secondary_ac_list": "O00613;O15416;O15421;Q13354;Q56D06;Q59GM0;Q9Y5U0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0008047 enzyme activator activity;GO:0003714 transcription corepressor activity;GO:0035259 nuclear glucocorticoid receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0017053 transcription repressor complex;GO:0016604 nuclear body", "go_biological_process": "GO:0010565 regulation of ketone metabolic 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:0032355 response to estradiol", "synthesized_glycan_count": 0, "hit_score": 50.3, "record_id": "Q9Y618-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15047-1", "uniprot_id": [ { "id": "SETB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15047", "type": "external" } ], "mass": 143157.0, "length": 1291, "protein_name": "Histone-lysine N-methyltransferase SETDB1", "gene_name": "SETDB1", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase SETDB1 isoform 1", "refseq_ac": [ { "id": "NP_001138887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138887", "type": "external" } ], "gene_names_uniprotkb": "SETDB1; ESET; KIAA0067; KMT1E", "gene_names_refseq": "ESET; H3-K9-HMTase4; KG1T; KMT1E; SETDB1; TDRD21", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase SETDB1; 2.1.1.366; ERG-associated protein with SET domain; ESET; H3-K9-HMTase 4; Histone H3-K9 methyltransferase 4; Lysine N-methyltransferase 1E; SET domain bifurcated 1", "protein_names_refseq": "ERG-associated protein with a SET domain, ESET; SET domain bifurcated 1; histone H3-K9 methyltransferase 4; histone-lysine N-methyltransferase SETDB1 isoform 1; histone-lysine N-methyltransferase SETDB1; histone-lysine N-methyltransferase, H3lysine-9 specific 4; lysine N-methyltransferase 1E; tudor domain containing 21", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); autistic disorder (Disease Ontology:DOID:12849); Huntington's disease (Disease Ontology:DOID:12858); lung cancer (Disease Ontology:DOID:1324); melanoma (Disease Ontology:DOID:1909); high grade glioma (Disease Ontology:DOID:3070); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:9869); (R-HSA-3214841); (R-HSA-9843940); (R-HSA-9843970)", "pathway_count": 4, "publication_count": 164, "publication_id_list": "10.1101/2023.09.13.557529;10330177;10949293;11237011;11959841;12123582;12130538;12453418;12540855;12670868;12869583;14536086;14690610;14992727;15145825;15235609;15327775;15691849;15882967;15899859;15964846;16118227;16199523;16292313;16519522;16567619;16682010;16682412;16805913;16954381;17021013;17066076;17142323;17500065;17544230;17707229;17952062;18082607;18172012;18220336;18669648;19061646;19808676;2028256;20871592;21131967;21196496;21406692;21779408;21832073;22022377;22099308;22658674;22939622;23034801;23186163;23301498;23481700;24129315;24623306;25114211;25218447;25274305;25418920;25576301;25645385;25755297;25772364;25892735;26022416;26154972;26375851;26405197;26813693;26929215;26992070;27029610;27237050;27543614;27732843;27862975;27920218;28218747;28228285;28273063;28581500;28649982;28832583;28834231;28855257;28904123;29211708;29234025;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29632711;29728366;29769354;30315122;30410026;30429286;30484775;30487602;30779550;30849389;31092671;31154438;31222486;31289231;31427381;31530632;31612521;31844290;31848261;32051553;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32890405;32938616;32976585;32983136;33009411;33298915;33537174;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34509645;35051231;35494241;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37076248;37179361;37938770;37938771;38253038;38426579;38583021;38904842;39096901;39443993;8769649;9016654", "class_list": "", "function": "Contributes to HP1-mediated silencing of euchromatic genes by KRAB zinc-finger proteins; KAP-1, SETDB1, H3-MeK9, and HP1 are enriched at promoter sequences of a euchromatic gene silenced by the KRAB-KAP-1 repression system, [RefSeq, PubMed]; Cytoplasmic localization of SETDB1-induced Warburg effect via c-MYC-LDHA axis enhances migration and invasion in breast carcinoma., [RefSeq, PubMed]; Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 (H3K9me3) (PubMed:11959841, PubMed:12869583, PubMed:14536086, PubMed:27237050, PubMed:39096901). H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones (PubMed:11959841, PubMed:12869583, PubMed:14536086, PubMed:27237050, PubMed:39096901). Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes (PubMed:12869583, PubMed:14536086, PubMed:27237050, PubMed:39096901). H3 'Lys-9' trimethylation is coordinated with DNA methylation (PubMed:12869583, PubMed:14536086, PubMed:27237050, PubMed:39096901). Forms a complex with MBD1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' trimethylation (PubMed:14536086). Its activity is dependent on MBD1 and is heritably maintained through DNA replication by being recruited by CAF-1 (PubMed:14536086). SETDB1 is targeted to histone H3 by TRIM28/TIF1B, a factor recruited by KRAB zinc-finger proteins (PubMed:24623306). Required for HUSH-mediated heterochromatin formation and gene silencing (PubMed:27732843). Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells (PubMed:24623306). Required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) (PubMed:24623306). In ESCs, in collaboration with TRIM28, is also required for H3K9me3 and silencing of endogenous and introduced retroviruses in a DNA-methylation independent-pathway (PubMed:37938770). Associates at promoter regions of tumor suppressor genes (TSGs) leading to their gene silencing (PubMed:24623306). The SETDB1-TRIM28-ZNF274 complex may play a role in recruiting ATRX to the 3'-exons of zinc-finger coding genes with atypical chromatin signatures to establish or maintain/protect H3K9me3 at these transcriptionally active regions (PubMed:27029610). Also catalyzes mono- and dimethylation of 'Lys-9' of free histone H3 (H3K9me1 and H3K9me2) during translation in the cytoplasm, which is then transported to the nucleus and incorporated into nucleosomes (PubMed:26405197)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Lacks all domains required for histone methyltransferase activity., [UniProtKB]; SETDB1 deletion causes DNA demethylation and upregulation of multiple zinc-finger genes. Publication Status: Online-Only, [RefSeq, PubMed]; SETDB1 targeting SESN2 regulates mitochondrial damage and oxidative stress in renal ischemia-reperfusion injury. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a histone methyltransferase which regulates histone methylation, gene silencing, and transcriptional repression. This gene has been identified as a target for treatment in Huntington Disease, given that gene silencing and transcription dysfunction likely play a role in the disease pathogenesis. Alternatively spliced transcript variants of this gene have been described.[provided by RefSeq, Jun 2011]., [RefSeq]; [Downregulation of SETDB1 suppresses epithelial mesenchymal transition and invasion and metastasis in oral cancer via SOX7 methylation]., [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": 7, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 52, "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": "A6NEW2;Q5SZD8;Q5SZD9;Q5SZE0;Q5SZE7;Q96GM9", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.367", "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": "2.1.1.366", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.366", "type": "external" }, { "id": "2.1.1.359", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.359", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:1990841 promoter-specific chromatin binding;GO:0046974 histone H3K9 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin;GO:0005694 chromosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0010629 negative regulation of gene expression;GO:0032259 methylation;GO:0006346 DNA methylation-dependent constitutive heterochromatin formation;GO:0070828 heterochromatin organization", "synthesized_glycan_count": 0, "hit_score": 16.9, "record_id": "Q15047-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22570-1", "uniprot_id": [ { "id": "ADRO_HUMAN", "url": "https://www.uniprot.org/uniprot/P22570", "type": "external" } ], "mass": 53837.0, "length": 491, "protein_name": "NADPH:adrenodoxin oxidoreductase, mitochondrial", "gene_name": "FDXR", "organism": "Human", "refseq_name": "NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 3 precursor", "refseq_ac": [ { "id": "NP_001244941", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244941", "type": "external" } ], "gene_names_uniprotkb": "FDXR; ADXR", "gene_names_refseq": "ADR; ADXR; ANOA; FDXR; MMDS9B", "protein_names_uniprotkb": "NADPH:adrenodoxin oxidoreductase, mitochondrial; 1.18.1.-; 1.18.1.6; AR; Adrenodoxin reductase; Ferredoxin reductase; Ferredoxin--NADP(+) reductase", "protein_names_refseq": "AR; NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 3 precursor; NADPH:adrenodoxin oxidoreductase, mitochondrial; adrenodoxin reductase; adrenodoxin-NADP(+) reductase; epididymis secretory sperm binding protein; ferredoxin--NADP(+) reductase", "tax_id": 9606, "disease": "auditory neuropathy and optic atrophy (Disease Ontology:DOID:0070735); multiple mitochondrial dysfunctions syndrome 9B (Disease Ontology:DOID:0070736); retinitis pigmentosa (Disease Ontology:DOID:10584); Parkinson's disease (Disease Ontology:DOID:14330); auditory system disease (Disease Ontology:DOID:2742); optic atrophy (Disease Ontology:DOID:5723); Zellweger syndrome (Disease Ontology:DOID:905); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2232); (R-HSA-196108); (R-HSA-211976); (R-HSA-2395516); (R-HSA-5579026)", "pathway_count": 5, "publication_count": 59, "publication_id_list": "10588945;11237011;11502818;11555828;15042513;15507506;1567230;1708392;1741400;19661213;20149798;20547883;21159840;21636783;22101253;2236061;22424782;2256920;22772592;23186163;25542846;25818881;25892735;2592361;28228285;2845396;28855257;28965846;29040572;29242379;29632046;29769354;2981667;3001071;3024157;30250212;30315122;3038528;31530632;31844290;32938616;33141586;33298915;33348459;34229054;34725712;3487786;35580925;37046037;37107710;37481223;38425362;38885337;8307574;8619637;8645003;9536209;9578606;9915832", "class_list": "", "function": "FDXR variants cause adrenal insufficiency and atypical sexual development. Publication Status: Online-Only, [RefSeq, PubMed]; FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population. Publication Status: Online-Only, [RefSeq, PubMed]; FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum., [RefSeq, PubMed]; Serves as the first electron transfer protein in all the mitochondrial P450 systems including cholesterol side chain cleavage in all steroidogenic tissues, steroid 11-beta hydroxylation in the adrenal cortex, 25-OH-vitamin D3-24 hydroxylation in the kidney, and sterol C-27 hydroxylation in the liver. Also acts as a ferredoxin--NADP(+) reductase essential for coenzyme Q biosynthesis: together with FDX2, transfers the electrons required for the hydroxylation reaction performed by COQ6., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed]; This gene encodes a mitochondrial flavoprotein that initiates electron transport for cytochromes P450 receiving electrons from NADPH. Multiple alternatively spliced transcript variants have been found for this gene. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DDI7;B4DHX5;B4DQQ4;B4DX24;B7Z7G2;E7EQC1;Q13716;Q4PJI0;Q9BU12", "ec_number_list": [ { "id": "1.14.15.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.15.6", "type": "external" }, { "id": "1.18.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.18.1.6", "type": "external" }, { "id": "1.18.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.18.1.-", "type": "external" } ], "go_molecular_function": "GO:0004324 ferredoxin-NADP+ reductase activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006091 generation of precursor metabolites and energy;GO:0008203 cholesterol metabolic process;GO:0006694 steroid biosynthetic process;GO:0006744 ubiquinone biosynthetic process;GO:0006124 ferredoxin metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "P22570-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92527-1", "uniprot_id": [ { "id": "ANKR7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92527", "type": "external" } ], "mass": 29029.0, "length": 254, "protein_name": "Ankyrin repeat domain-containing protein 7", "gene_name": "ANKRD7", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 7", "refseq_ac": [ { "id": "NP_062618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_062618", "type": "external" } ], "gene_names_uniprotkb": "ANKRD7", "gene_names_refseq": "ANKRD7; TSA806", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 7; Testis-specific protein TSA806", "protein_names_refseq": "ankyrin repeat domain-containing protein 7; testicular tissue protein Li 19; testis-specific ankyrin motif containing protein; testis-specific protein TSA806", "tax_id": 9606, "disease": "", "pathway": " (hsa:56311)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;22613542;35051231;8812458", "class_list": "", "function": "Evidence suggests that ANKRD7 and CYTL1 genes may play an important role in the variance in alcohol drinking risk, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B4DYF5;Q96QN1;Q9UDM3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q92527-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZNB7-1", "uniprot_id": [ { "id": "ALKMO_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZNB7", "type": "external" } ], "mass": 51500.0, "length": 445, "protein_name": "Alkylglycerol monooxygenase", "gene_name": "AGMO", "organism": "Human", "refseq_name": "alkylglycerol monooxygenase", "refseq_ac": [ { "id": "NP_001004320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004320", "type": "external" } ], "gene_names_uniprotkb": "AGMO; TMEM195", "gene_names_refseq": "AGMO; TMEM195", "protein_names_uniprotkb": "Alkylglycerol monooxygenase; 1.14.16.5; Transmembrane protein 195", "protein_names_refseq": "alkylglycerol monooxygenase; glyceryl-ether monooxygenase; transmembrane protein 195", "tax_id": 9606, "disease": "", "pathway": " (hsa:392636); (R-HSA-75109)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "11237011;11481335;11672446;12618427;12824082;14521909;14970677;15845384;17158099;17287340;18238778;18694939;18718904;19336658;20081858;20419449;20613766;20643956;22220568;25838202;26992070;27000257;27397612;28586473;29557506;30429286;31154438;31555905;31844290;31848261;35051231;35580925;36284347;38253038", "class_list": "", "function": "Among all of the acidic residues within the eight-histidine motif, only mutation of Glu137 to alanine led to an 18-fold increase in the Michaelis-Menten constant for tetrahydrobiopterin, suggesting a role in tetrahydrobiopterin interaction, [RefSeq, PubMed]; An AGMO mutation was found in a Saudi family underlying primary microcephaly and intellectual disability., [RefSeq, PubMed]; Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder., [RefSeq, PubMed]; Glyceryl-ether monooxygenase that cleaves the O-alkyl bond of ether lipids. Ether lipids are essential components of brain membranes., [UniProtKB, PubMed]; Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) Erratum:[Nat Genet.2010 May;42(5):464], [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]; The protein encoded by this gene is a tetrahydrobiopterin- and iron-dependent enzyme that cleaves the ether bond of alkylglycerols. Sequence comparisons distinguish this protein as forming a third, distinct class of tetrahydrobiopterin-dependent enzymes. Variations in this gene have been associated with decreased glucose-stimulated insulin response, type 2 diabetes, and susceptibility to intracranial aneurysms. [provided by RefSeq, Aug 2012]., [RefSeq]; Transmembrane protein 195 has tetrahydrobiopterin-dependent alkylglycerol monooxygenase activity (also known as glyceryl-ether monooxygenase activity, E.C. 1.14.16.5)., [RefSeq, PubMed]; We identified homozygous and heterozygous mutations of the alkylglycerol monooxygenase (AGMO) gene (MIM 613738) as the likely cause of visceral leishmaniasis relapse in 3 families., [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": 8, "reported_glycation": 0, "reported_snv": 19, "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": "A4D114;A6NCH5", "ec_number_list": [ { "id": "1.14.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.16.5", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0050479 glyceryl-ether monooxygenase activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006643 membrane lipid metabolic process;GO:0019432 triglyceride biosynthetic process;GO:0046485 ether lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q6ZNB7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14645-1", "uniprot_id": [ { "id": "IDLC_HUMAN", "url": "https://www.uniprot.org/uniprot/O14645", "type": "external" } ], "mass": 29662.0, "length": 258, "protein_name": "Axonemal dynein light intermediate polypeptide 1", "gene_name": "DNALI1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "DNALI1", "gene_names_refseq": "", "protein_names_uniprotkb": "Axonemal dynein light intermediate polypeptide 1; Inner dynein arm light chain, axonemal; hp28", "protein_names_refseq": "", "tax_id": 9606, "disease": "spermatogenic failure 83 (Disease Ontology:DOID:0070582)", "pathway": " (hsa:7802)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;16959974;27120127;31178125;31844290;33139725;35051231;35580925;36792588;37217939;9284741", "class_list": "", "function": "Involved in sperm flagellum assembly., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K387;B4DHN6;Q05BL9;Q5HYE2;Q5TGH0;Q7L0I5", "ec_number_list": [], "go_molecular_function": "GO:0045504 dynein heavy chain binding", "go_cellular_component": "GO:0097229 sperm end piece;GO:0005737 cytoplasm;GO:0005929 cilium;GO:0031514 motile cilium;GO:0030175 filopodium", "go_biological_process": "GO:0120316 sperm flagellum assembly", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "O14645-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55789-1", "uniprot_id": [ { "id": "ALR_HUMAN", "url": "https://www.uniprot.org/uniprot/P55789", "type": "external" } ], "mass": 23449.0, "length": 205, "protein_name": "FAD-linked sulfhydryl oxidase ALR", "gene_name": "GFER", "organism": "Human", "refseq_name": "FAD-linked sulfhydryl oxidase ALR", "refseq_ac": [ { "id": "NP_005253", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005253", "type": "external" } ], "gene_names_uniprotkb": "GFER; ALR; HERV1; HPO", "gene_names_refseq": "ALR; ERV1; GFER; HERV1; HPO1; HPO2; HPO; HSS; MMCHD; MPMCD", "protein_names_uniprotkb": "FAD-linked sulfhydryl oxidase ALR; 1.8.3.2; Augmenter of liver regeneration; Hepatopoietin; hERV1", "protein_names_refseq": "ERV1 homolog; FAD-linked sulfhydryl oxidase ALR; erv1-like growth factor; hepatic regenerative stimulation substance; hepatopoietin protein", "tax_id": 9606, "disease": "renal fibrosis (Disease Ontology:DOID:0050855); autosomal recessive centronuclear myopathy (Disease Ontology:DOID:0111216); kidney failure (Disease Ontology:DOID:1074); cryptorchidism (Disease Ontology:DOID:11383); acute kidney failure (Disease Ontology:DOID:3021); ureteral obstruction (Disease Ontology:DOID:5199); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898); congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome (MONDO:MONDO:0013116)", "pathway": " (hsa:2671); (R-HSA-1268020)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10712775;11237011;12180965;14726512;15254020;15644312;15683237;15944288;16185709;16849325;17510655;18174896;18669648;18678864;18691976;19397338;19409522;19453276;19767391;19962426;20593814;21383138;21750375;22224850;23041349;23186364;23301498;23597483;23676665;23811401;25315652;25418920;25469497;25576301;26154972;26697887;26811146;26929215;26992070;27846572;27920218;28063628;28832583;28904123;29393594;29557506;29632046;30315122;30410026;30833945;31844290;32265295;32387766;34357683;35352250;37666068;39894887;8575761", "class_list": "", "function": "FAD-dependent sulfhydryl oxidase that regenerates the redox-active disulfide bonds in CHCHD4/MIA40, a chaperone essential for disulfide bond formation and protein folding in the mitochondrial intermembrane space. The reduced form of CHCHD4/MIA40 forms a transient intermolecular disulfide bridge with GFER/ERV1, resulting in regeneration of the essential disulfide bonds in CHCHD4/MIA40, while GFER/ERV1 becomes re-oxidized by donating electrons to cytochrome c or molecular oxygen., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; May act as an autocrine hepatotrophic growth factor promoting liver regeneration., [UniProtKB]; Polymorphism rs1046495 of the GFER Gene as a New Genetic Marker of Preposition to Type 2 Diabetes Mellitus., [RefSeq, PubMed]; TMPRSS11D/ALR-mediated ER stress regulates the function of myeloid-derived suppressor cells in the cervical cancer microenvironment., [RefSeq, PubMed]; The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53YM6;Q8TAH6;Q9H290;Q9UK40", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" } ], "go_molecular_function": "GO:0050660 flavin adenine dinucleotide binding;GO:0008083 growth factor activity;GO:0015035 protein-disulfide reductase activity;GO:0016971 flavin-dependent sulfhydryl oxidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space;GO:0005829 cytosol", "go_biological_process": "GO:0001889 liver development;GO:0160203 mitochondrial disulfide relay system", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "P55789-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6U3-1", "uniprot_id": [ { "id": "SCIN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6U3", "type": "external" } ], "mass": 80489.0, "length": 715, "protein_name": "Scinderin", "gene_name": "SCIN", "organism": "Human", "refseq_name": "scinderin isoform 1", "refseq_ac": [ { "id": "NP_001106177", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001106177", "type": "external" } ], "gene_names_uniprotkb": "SCIN; KIAA1905", "gene_names_refseq": "SCIN", "protein_names_uniprotkb": "Scinderin; Adseverin", "protein_names_refseq": "adseverin; scinderin isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:85477)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;11568009;19666531;20112406;25892735;26365202;29393594;29557506;29786170;29789417;30379171;30429286;31154438;31204912;31844290;31848261;32157095;32350084;32488085;34185709;34561969;35051231;35318648;35580925;36148682;36241641;37936437;37938771;39894887;8547642", "class_list": "", "function": "Ca(2+)-dependent actin filament-severing protein that has a regulatory function in exocytosis by affecting the organization of the microfilament network underneath the plasma membrane (PubMed:26365202, PubMed:8547642). Severing activity is inhibited by phosphatidylinositol 4,5-bis-phosphate (PIP2) (By similarity). In vitro, also has barbed end capping and nucleating activities in the presence of Ca(2+). Required for megakaryocyte differentiation, maturation, polyploidization and apoptosis with the release of platelet-like particles (PubMed:11568009). Plays a role in osteoclastogenesis (OCG) and actin cytoskeletal organization in osteoclasts (By similarity). Regulates chondrocyte proliferation and differentiation (By similarity). Inhibits cell proliferation and tumorigenesis. Signaling is mediated by MAPK, p38 and JNK pathways (PubMed:11568009)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed, PubMed]; Down-regulation of SCIN expression may relate with the progression of chronic myeloid leukemia, [RefSeq, PubMed]; SCIN is a Ca(2+)-dependent actin-severing and -capping protein (Zunino et al., 2001 [PubMed 11568009]).[supplied by OMIM, May 2010]., [RefSeq]; Scinderin Promotes Hydrogen Peroxide-induced Lens Epithelial Cell Injury in Age-related Cataract., [RefSeq, PubMed]; The AHR target gene scinderin activates the WNT pathway by facilitating the nuclear translocation of beta-catenin., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8K2U8;Q8NBZ6;Q8WU97;Q96JC7;Q96PY2", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0051015 actin filament binding;GO:0005509 calcium ion binding;GO:0005545 1-phosphatidylinositol binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005903 brush border;GO:0005938 cell cortex;GO:0015629 actin cytoskeleton;GO:0070062 extracellular exosome", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0043065 positive regulation of apoptotic process;GO:0007417 central nervous system development;GO:0051016 barbed-end actin filament capping;GO:0008154 actin polymerization or depolymerization", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9Y6U3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12929-1", "uniprot_id": [ { "id": "EPS8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12929", "type": "external" } ], "mass": 91882.0, "length": 822, "protein_name": "Epidermal growth factor receptor kinase substrate 8", "gene_name": "EPS8", "organism": "Human", "refseq_name": "epidermal growth factor receptor kinase substrate 8 isoform b", "refseq_ac": [ { "id": "NP_004438", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004438", "type": "external" } ], "gene_names_uniprotkb": "EPS8", "gene_names_refseq": "DFNB102; EPS8", "protein_names_uniprotkb": "Epidermal growth factor receptor kinase substrate 8", "protein_names_refseq": "epidermal growth factor receptor kinase substrate 8 isoform b; epidermal growth factor receptor kinase substrate 8; epidermal growth factor receptor pathway substrate 8", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 102 (Disease Ontology:DOID:0110463); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:2059); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 3, "publication_count": 93, "publication_id_list": "10.1038/emboj.2013.79;10025409;10821263;11163272;11237011;11244499;15289329;15558031;17081983;17115031;17537571;18083107;18212344;18566210;18669648;19008210;19116338;19413330;19448673;19564905;19651622;23481700;23584533;23626693;24275569;24714562;24741995;25376540;25576301;25645385;25936538;26721930;26728094;26992070;27397612;27600516;27738316;27840923;27846572;27862975;28214294;28218747;28228285;28446606;28649982;28834231;28904123;29242379;29331515;29393594;29437277;29515106;29557506;29786170;29789417;30315122;30379171;30429286;31217245;31844290;32157095;32387766;32488085;32502341;32641864;32938616;32983136;33141586;33298915;33592498;33717175;33968037;33981976;34087483;34171305;34211107;34509645;34561969;34637946;34932366;35051231;35318648;35580925;35976880;36010968;36241641;36284347;36932195;37938771;38494066;38665916;7537362;8084614", "class_list": "", "function": "Apparent homozygosity for a novel splicing variant in EPS8 causes congenital profound hearing loss., [RefSeq, PubMed]; HNF1A induces glioblastoma by upregulating EPS8 and activating PI3K/AKT signaling pathway., [RefSeq, PubMed]; Loss of EPS8 sensitizes non-small-cell lung carcinoma to chemotherapy-induced DNA damage., [RefSeq, PubMed]; Signaling adapter that controls various cellular protrusions by regulating actin cytoskeleton dynamics and architecture. Depending on its association with other signal transducers, can regulate different processes. Together with SOS1 and ABI1, forms a trimeric complex that participates in transduction of signals from Ras to Rac by activating the Rac-specific guanine nucleotide exchange factor (GEF) activity. Acts as a direct regulator of actin dynamics by binding actin filaments and has both barbed-end actin filament capping and actin bundling activities depending on the context. Displays barbed-end actin capping activity when associated with ABI1, thereby regulating actin-based motility process: capping activity is auto-inhibited and inhibition is relieved upon ABI1 interaction. Also shows actin bundling activity when associated with BAIAP2, enhancing BAIAP2-dependent membrane extensions and promoting filopodial protrusions. Involved in the regulation of processes such as axonal filopodia growth, stereocilia length, dendritic cell migration and cancer cell migration and invasion. Acts as a regulator of axonal filopodia formation in neurons: in the absence of neurotrophic factors, negatively regulates axonal filopodia formation via actin-capping activity. In contrast, it is phosphorylated in the presence of BDNF leading to inhibition of its actin-capping activity and stimulation of filopodia formation. Component of a complex with WHRN and MYO15A that localizes at stereocilia tips and is required for elongation of the stereocilia actin core. Indirectly involved in cell cycle progression; its degradation following ubiquitination being required during G2 phase to promote cell shape changes., [UniProtKB, PubMed, PubMed]; Targeting of microvillus protein Eps8 by the NleH effector kinases from enteropathogenic E. coli., [RefSeq, PubMed]; This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly 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": 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": 23, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NMC3;A8K6W2;A8KA66;B4DX66;Q8N6J0", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0017146 NMDA selective glutamate receptor complex;GO:0005886 plasma membrane;GO:0005903 brush border;GO:0005938 cell cortex", "go_biological_process": "GO:0030832 regulation of actin filament length;GO:0070358 actin polymerization-dependent cell motility;GO:0051016 barbed-end actin filament capping;GO:0051017 actin filament bundle assembly;GO:0007266 Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q12929-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQW6-1", "uniprot_id": [ { "id": "ANLN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQW6", "type": "external" } ], "mass": 124199.0, "length": 1124, "protein_name": "Anillin", "gene_name": "ANLN", "organism": "Human", "refseq_name": "anillin isoform 2", "refseq_ac": [ { "id": "NP_001271230", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271230", "type": "external" } ], "gene_names_uniprotkb": "ANLN", "gene_names_refseq": "ANLN; FSGS8; Scraps; scra", "protein_names_uniprotkb": "Anillin", "protein_names_refseq": "anillin isoform 2", "tax_id": 9606, "disease": "focal segmental glomerulosclerosis 8 (Disease Ontology:DOID:0111133)", "pathway": " (hsa:54443); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106)", "pathway_count": 4, "publication_count": 287, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;10931866;11058585;11085924;11207612;11237011;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12473120;12479805;12531887;12637748;12650940;12857875;12877655;14512443;15023524;15064355;15107133;15302923;15342493;15485661;15496454;15601624;15611138;15616196;15800069;15850391;15866170;15944396;16040610;16112081;16116428;16129829;16184169;16203764;16217026;16357138;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16964243;17077126;17081983;17198702;17322306;17562871;17702745;17765681;17804252;17924679;17932950;17942708;17976533;18158243;18212344;18218625;18220336;18452278;18669648;18691976;18767875;18802007;18829452;19413330;19415658;19494238;19605563;19608861;19635168;19651622;19664994;19664995;19673492;19690332;19691289;19713215;20030946;20068230;20068231;20101212;20400958;20591975;20628200;20660154;21148482;21351730;21373644;21406692;21454492;21565175;21576392;21699497;21757538;21865595;21936715;22096251;22298643;22305756;22424782;22673745;22790947;22911862;22992742;23186163;23200924;23255595;23301498;23434736;23481700;23572525;23870127;23870313;24086303;24128008;24259668;24335996;24352656;24676636;24715725;24933155;25114211;25211221;25418920;25425145;25505266;25576301;25645385;25673874;25704760;26154972;26371245;26375851;26529257;26768311;26887924;26992070;27145964;27216196;27481945;27600516;27846572;27920218;27986909;28063628;28112683;28196833;28218747;28228285;28446606;28510447;28514659;28584191;28649982;28832583;28834231;28904123;29146911;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29786170;29789417;30315122;30410026;30429286;30484775;30524438;31105010;31844290;31871319;32119511;32157095;32203420;32265295;32357974;32387766;32488085;32502341;32897882;32938616;33123756;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34725712;34932366;35051231;35254053;35318648;35561310;35580925;36010968;36241641;36284347;36416720;36894036;37217939;37539739;37938771;37957688;38665916;40307207;40596516;7479768;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9305890;9418861;9490638;9497316;9535835;9548756;9659915;9670022;9792683;9822605;9829970", "class_list": "", "function": "A Therapeutically Targetable TAZ-TEAD2 Pathway Drives the Growth of Hepatocellular Carcinoma via ANLN and KIF23., [RefSeq, PubMed]; Anillin has a role in spatially regulating the contractile activity of myosin II during cytokinesis, [RefSeq, PubMed]; Cytokinetic diversity in mammalian cells is revealed by the characterization of endogenous anillin, Ect2 and RhoA., [RefSeq, PubMed]; Effects of a novel ANLN E841K mutation associated with SRNS on podocytes and its mechanism. Publication Status: Online-Only, [RefSeq, PubMed]; Identified a missense mutation R431C in anillin (ANLN), an F-actin binding cell cycle gene, as a cause of FSGS. We screened 250 additional families with FSGS and found another variant, G618C, that segregates with disease in a second family with FSGS., [RefSeq, PubMed]; Knockdown of ANLN inhibits the progression of lung adenocarcinoma via pyroptosis activation., [RefSeq, PubMed]; Required for cytokinesis (PubMed:16040610). Essential for the structural integrity of the cleavage furrow and for completion of cleavage furrow ingression. Plays a role in bleb assembly during metaphase and anaphase of mitosis (PubMed:23870127). May play a significant role in podocyte cell migration (PubMed:24676636)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Required for cytokinesis. Essential for the structural integrity of the cleavage furrow and for completion of cleavage furrow ingression. Plays a role in bleb assembly during metaphase and anaphase of mitosis. May play a significant role in podocyte cell migration., [UniProtKB, UniProtKB]; This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [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": 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": 3, "reported_glycation": 0, "reported_snv": 28, "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": "Q5CZ78;Q6NSK5;Q9H8Y4;Q9NVN9;Q9NVP0", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005938 cell cortex;GO:0015629 actin cytoskeleton;GO:0030496 midbody", "go_biological_process": "GO:0000281 mitotic cytokinesis;GO:0000921 septin ring assembly;GO:0007096 regulation of exit from mitosis;GO:0090521 podocyte cell migration;GO:1904172 positive regulation of bleb assembly", "synthesized_glycan_count": 0, "hit_score": 29.2, "record_id": "Q9NQW6-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z7M1-1", "uniprot_id": [ { "id": "AGRD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z7M1", "type": "external" } ], "mass": 104087.0, "length": 963, "protein_name": "Adhesion G protein-coupled receptor D2", "gene_name": "ADGRD2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ADGRD2; GPR144; PGR24", "gene_names_refseq": "", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor D2; G protein-coupled receptor 144; G protein-coupled receptor PGR24", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:347088)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;12679517;15203201;25713288;28585349;31848261;32938616;35051231", "class_list": "", "function": "Orphan receptor., [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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q86SL4;Q8NH12", "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": 0.9, "record_id": "Q7Z7M1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T1C6-1", "uniprot_id": [ { "id": "THEM4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T1C6", "type": "external" } ], "mass": 27130.0, "length": 240, "protein_name": "Acyl-coenzyme A thioesterase THEM4", "gene_name": "THEM4", "organism": "Human", "refseq_name": "acyl-coenzyme A thioesterase THEM4", "refseq_ac": [ { "id": "NP_444283", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_444283", "type": "external" } ], "gene_names_uniprotkb": "THEM4; CTMP", "gene_names_refseq": "CTMP; THEM4", "protein_names_uniprotkb": "Acyl-coenzyme A thioesterase THEM4; 3.1.2.2; Acyl-CoA thioesterase THEM4; Carboxyl-terminal modulator protein; Thioesterase superfamily member 4", "protein_names_refseq": "C-terminal modulator protein; acyl-CoA thioesterase THEM4; acyl-coenzyme A thioesterase THEM4; carboxyl-terminal modulator protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:117145); (R-HSA-1257604); (R-HSA-165158); (R-HSA-199418); (R-HSA-389357); (R-HSA-5218920); (R-HSA-77289)", "pathway_count": 7, "publication_count": 77, "publication_id_list": "10075701;10191262;11147812;11237011;11278486;11598301;11696000;11803464;11804587;12138205;12167717;12660731;12670391;12767043;12791994;12882974;15026474;15638818;15718470;15808505;15890450;16423998;16934754;16940157;17013611;17060906;17386267;17615157;17762044;17953517;18268358;18439422;18925875;19168129;19170545;19421406;19453107;19604401;19805105;20068231;20338778;20338997;20470824;21237683;21827948;22465940;22586271;22871024;23700546;23901139;24080521;24732803;25002576;26290611;27600516;31222486;32654229;32983136;33912179;35051231;36400965;38994770;4721607;7637810;7744773;8241273;8621607;8645147;8645157;9094314;9228007;9445477;9637919;9679957;9705280;9736715;9895304", "class_list": "", "function": "CTMP induces translocation of Akt to the membrane and thereby increases the level of Akt phosphorylation. As a result, CTMP enhances various cellular activities that are principally mediated by the PI3-kinase/Akt pathway., [RefSeq, PubMed]; Carboxyl-terminal modulator protein facilitates tumor metastasis in triple-negative breast cancer., [RefSeq, PubMed]; Enolase-phosphatase 1 acts as an oncogenic driver in glioma., [RefSeq, PubMed]; Has acyl-CoA thioesterase activity towards medium and long-chain (C14 to C18) fatty acyl-CoA substrates, and probably plays a role in mitochondrial fatty acid metabolism. Plays a role in the apoptotic process, possibly via its regulation of AKT1 activity. According to PubMed:11598301, inhibits AKT1 phosphorylation and activity. According to PubMed:17615157, enhances AKT1 activity by favoring its phosphorylation and translocation to plasma membrane., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Overview of carboxyl-terminal modulator protein 1 and its importance in various metabolic regulations (Review). Review article, [RefSeq, PubMed]; Proper maturation of CTMP is essential for its pro-apoptotic function. CTMP delays PKB phosphorylation following cell death induction, suggesting that CTMP regulates apoptosis via inhibition of PKB., [RefSeq, PubMed]; Protein kinase B (PKB) is a major downstream target of receptor tyrosine kinases that signal via phosphatidylinositol 3-kinase. Upon cell stimulation, PKB is translocated to the plasma membrane, where it is phosphorylated in the C-terminal regulatory domain. The protein encoded by this gene negatively regulates PKB activity by inhibiting phosphorylation. Transcription of this gene is commonly downregulated in glioblastomas. [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": 10, "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": "B2RBX2;Q96KR2", "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": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.1.2.-", "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:0016787 hydrolase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0051898 negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:1902108 regulation of mitochondrial membrane permeability involved in apoptotic process", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q5T1C6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZN18-1", "uniprot_id": [ { "id": "AEBP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZN18", "type": "external" } ], "mass": 54467.0, "length": 517, "protein_name": "Zinc finger protein AEBP2", "gene_name": "AEBP2", "organism": "Human", "refseq_name": "zinc finger protein AEBP2 isoform b", "refseq_ac": [ { "id": "NP_001107648", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107648", "type": "external" } ], "gene_names_uniprotkb": "AEBP2", "gene_names_refseq": "AEBP2", "protein_names_uniprotkb": "Zinc finger protein AEBP2; AE-binding protein 2; Adipocyte enhancer-binding protein 2", "protein_names_refseq": "AE(adipocyte enhancer)-binding protein 2; adipocyte enhancer-binding protein 2; zinc finger protein AEBP2 isoform b; zinc finger protein AEBP2", "tax_id": 9606, "disease": "Hirschsprung's disease (Disease Ontology:DOID:10487); Waardenburg syndrome (Disease Ontology:DOID:9258)", "pathway": " (hsa:121536); (R-HSA-212300); (R-HSA-3214841)", "pathway_count": 3, "publication_count": 103, "publication_id_list": "10.1101/2023.09.13.557529;10949293;11237011;11959841;12123582;12130538;12351676;12435631;12453418;12540855;12670868;14536086;14690610;14992727;15099518;15145825;15225548;15235609;15964846;16118227;16199523;16292313;16357870;16431907;16519522;16682010;16805913;17021013;17081983;17500065;17525332;17544230;17707229;18172012;18669648;18974356;19026781;19571010;19690332;19808676;20068231;20075857;20123894;20937877;20974918;21131967;21170310;21196496;21406692;21779408;21832073;22099308;22323599;22466170;22939622;23110252;23186163;23326524;23431328;23679895;24074865;24366607;25418920;25505266;25576301;26154972;27600516;28218747;28228285;28514659;28832583;28904123;29242379;29393594;29437277;29493099;29499137;29508533;29557506;29632046;30315122;30410026;30923826;31086175;31154438;31217245;31324691;31530632;31844290;31864706;31959557;32157095;32502341;32938616;32983136;33298915;33479123;33968037;33981976;34405274;34561969;36284347;39531497", "class_list": "", "function": "Acts as an accessory subunit for the core Polycomb repressive complex 2 (PRC2), which mediates histone H3K27 (H3K27me3) trimethylation on chromatin leading to transcriptional repression of the affected target gene (PubMed:15225548, PubMed:29499137, PubMed:31959557). Plays a role in nucleosome localization of the PRC2 complex (PubMed:29499137)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Beta-TRCP-mediated AEBP2 ubiquitination and destruction controls cisplatin resistance in ovarian cancer., [RefSeq, PubMed]; JARID2 and AEBP2 regulate PRC2 in the presence of H2AK119ub1 and other histone modifications., [RefSeq, PubMed]; The first three-dimensional structure of the human polycomb repressive complex 2 complex bound to its cofactor AEBP2 has been presented. 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q59FS5;Q6ZN62;Q96BG3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0035098 ESC/E(Z) 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:0031507 heterochromatin formation;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q6ZN18-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRR6-1", "uniprot_id": [ { "id": "ADPGK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRR6", "type": "external" } ], "mass": 54089.0, "length": 497, "protein_name": "ADP-dependent glucokinase", "gene_name": "ADPGK", "organism": "Human", "refseq_name": "ADP-dependent glucokinase isoform 1 precursor", "refseq_ac": [ { "id": "NP_112574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112574", "type": "external" } ], "gene_names_uniprotkb": "ADPGK; PSEC0260", "gene_names_refseq": "2610017G09Rik; ADP-GK; ADPGK", "protein_names_uniprotkb": "ADP-dependent glucokinase; 2.7.1.147; ADP-GK; ADPGK; RbBP-35", "protein_names_refseq": "ADP-dependent glucokinase isoform 1 precursor; ATP-dependent glucokinase; rbBP-35", "tax_id": 9606, "disease": "", "pathway": " (hsa:83440); (R-HSA-70171)", "pathway_count": 2, "publication_count": 150, "publication_id_list": "10714828;11230166;11237011;11371164;11506403;11780755;12616532;1278465;12965206;13538944;15710582;16303743;16511037;17804405;183598;1871135;18910716;18910717;18927083;19309449;19903754;22219026;22544926;23168256;23446454;23481700;24366607;2462567;24714562;24715725;25418920;25576301;25645385;25648650;25880248;25892735;26154972;26375851;26555263;26728094;26929215;26992070;27397612;27600516;27846572;27862975;27920218;2793178;28218747;28228285;2846554;28649982;28832583;28834231;28904123;29242379;29331515;29437277;29493099;29508533;29557506;2960695;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30484775;30517626;30573663;30779550;30833945;31154438;31217245;31222486;31530632;31582762;3170585;31844290;31848261;3208766;32157095;32161166;32196589;32350084;32357974;32387766;32502341;32788680;32897882;32938616;32983136;33123756;33141586;33298915;33392160;3355497;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34211107;34357683;34509645;3453121;34561969;34782236;34932366;35051231;35154160;35251023;3529090;35318648;35580925;36215666;36241641;36284347;36581221;37084804;37938771;38665916;40914422;4413246;4555506;4827367;5009693;5687724;6434534;6444721;6451249;6696436;6771269;7144574;7150652;7391027;7717389;7825568;7989588;8117307;8325892;8447317;8786021;9438414;9493266", "class_list": "", "function": "ADP-dependent glucokinase as a novel onco-target for haematological malignancies. Publication Status: Online-Only, [RefSeq, PubMed]; ADP-dependent glucokinase regulates energy metabolism via ER-localized glucose sensing. Publication Status: Online-Only, [RefSeq, PubMed]; ADPGK (EC 2.7.1.147) catalyzes the ADP-dependent phosphorylation of glucose to glucose-6-phosphate and may play a role in glycolysis, possibly during ischemic conditions (Ronimus and Morgan, 2004 [PubMed 14975750]).[supplied by OMIM, Mar 2008]., [RefSeq]; ADPGK is substrate inhibited by high glucose concentration and shows high specificity for glucose, with no activity for other sugars, as determined by NMR spectroscopy, including 2-deoxyglucose, [RefSeq, PubMed]; ADPGK-AS1 promotes the progression of colorectal cancer via sponging miR-525 to upregulate FUT1., [RefSeq, PubMed]; Catalyzes the phosphorylation of D-glucose to D-glucose 6-phosphate using ADP as the phosphate donor (PubMed:22219026). GDP and CDP can replace ADP, but with reduced efficiency., [UniProtKB, PubMed]; Glucose and insulin response to oral glucose is higher in GCK(261) carriers, indicating clinical heterogeneity in GCK maturity diabetes carriers., [RefSeq, PubMed]; Kinetic characterization and phylogenetic analysis of human ADP-dependent glucokinase reveal new insights into its regulatory properties., [RefSeq, PubMed]; The presence of mild persistent hyperglycemia in any patient without autoantibodies should lead to genetic analysis of glucokinase, particularly if there is a positive family history., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q49AU7;Q8NBI1;Q8WZ90;Q96NF8;Q9H0A7", "ec_number_list": [ { "id": "2.7.1.147", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.147", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0043843 ADP-specific glucokinase activity;GO:0016301 kinase activity;GO:0016773 phosphotransferase activity, alcohol group as acceptor", "go_cellular_component": "GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006006 glucose metabolic process;GO:0061620 glycolytic process through glucose-6-phosphate;GO:0006096 glycolytic process", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "Q9BRR6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92547-1", "uniprot_id": [ { "id": "TOPB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92547", "type": "external" } ], "mass": 170679.0, "length": 1522, "protein_name": "DNA topoisomerase 2-binding protein 1", "gene_name": "TOPBP1", "organism": "Human", "refseq_name": "DNA topoisomerase 2-binding protein 1 isoform 1", "refseq_ac": [ { "id": "NP_008958", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008958", "type": "external" } ], "gene_names_uniprotkb": "TOPBP1; KIAA0259", "gene_names_refseq": "Dpb11; TOP2BP1; TOPBP1", "protein_names_uniprotkb": "DNA topoisomerase 2-binding protein 1; DNA topoisomerase II-beta-binding protein 1; DNA topoisomerase II-binding protein 1; TopBP1", "protein_names_refseq": "DNA topoisomerase 2-binding protein 1 isoform 1; DNA topoisomerase 2-binding protein 1; DNA topoisomerase II-beta-binding protein 1; topoisomerase (DNA) II binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:11073); (R-HSA-5685938); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-6804756); (R-HSA-69473); (R-HSA-9709570)", "pathway_count": 7, "publication_count": 252, "publication_id_list": "10.1101/2023.09.13.557529;10212258;10373512;10435622;10438626;10498869;10500146;10551859;10570149;10570174;10604467;10673500;10673501;10710310;10733923;10744977;10859164;10884347;10921897;11080452;11139606;11237011;11239457;11301010;11376695;11390642;11395493;11447225;11511362;11546806;11551930;11571269;11698410;11714696;11740489;11751635;11756551;11780126;11832208;12064478;12139939;12152085;12191481;12226092;12228710;12370410;12379650;12393879;12545175;12578958;12697828;12702766;12750383;12773567;12791985;12851404;12914926;14576433;14702041;14734547;15053879;15075294;15138768;15189136;15190204;15359272;15485900;15665856;15703751;15707391;15866171;16148040;16153896;16322561;16327781;16360315;16530042;16885023;16964243;17006541;17108107;17322306;17349958;17515903;17525332;17575048;17591690;17913746;17928296;17962301;17965729;18077418;18171670;18317453;18490454;18491316;18539610;18541667;18669648;18757400;18805091;18923075;18971343;19007248;19121998;19357644;19419957;19477925;19664995;19690332;19937654;19965871;20068231;20080954;20154705;20233725;20545769;20729832;20729858;20729859;20959462;20965415;21052091;21108795;21240188;21263215;21317932;21325134;21335604;21482717;21565612;21659603;21680713;21777809;21804533;22021381;22024395;22194698;22231403;22635276;22661229;22661230;22730300;22792074;22869377;22977173;23000554;23149936;23186163;23301498;23345434;23468639;23481700;23485397;23676219;23810717;23891287;23897887;24013206;24081328;24145406;24397554;24715725;24874608;25113031;25122754;25558984;25576301;25602520;25659039;25880248;25933514;26145171;26154972;26768311;26811146;26811421;26992070;27846572;27862975;28352266;28904123;29437277;29493099;29557506;30410026;30429286;30444036;30620550;30779550;30833945;30898438;31135337;31844290;31848261;31937595;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33556369;33592498;33592542;33633747;33717175;33912179;33936100;33968037;33978741;33981976;34087483;34171305;34211107;34440403;34561969;34932366;35051231;35121901;35124372;35132862;35318648;35494241;35561310;35580925;35597237;35842428;36172813;36241641;36284347;37165191;37316668;37674080;37712702;37938771;38169561;38578830;40307207;8702565;9461304;9705271;9837724;9925639", "class_list": "", "function": "Direct interaction with the BRD4 carboxyl-terminal motif (CTM) and TopBP1 is required for human papillomavirus 16 E2 association with mitotic chromatin and plasmid segregation function., [RefSeq, PubMed]; NRF2 promotes radiation resistance by cooperating with TOPBP1 to activate the ATR-CHK1 signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Scaffold protein that acts as a key protein-protein adapter in DNA replication and DNA repair (PubMed:10498869, PubMed:11395493, PubMed:11714696, PubMed:17575048, PubMed:20545769, PubMed:21777809, PubMed:26811421, PubMed:30898438, PubMed:31135337, PubMed:33592542, PubMed:35597237, PubMed:37674080). Composed of multiple BRCT domains, which specifically recognize and bind phosphorylated proteins, bringing proteins together into functional combinations (PubMed:17575048, PubMed:20545769, PubMed:21777809, PubMed:26811421, PubMed:30898438, PubMed:31135337, PubMed:35597237, PubMed:37674080). Required for DNA replication initiation but not for the formation of pre-replicative complexes or the elongation stages (By similarity). Necessary for the loading of replication factors onto chromatin, including GMNC, CDC45, DNA polymerases and components of the GINS complex (By similarity). Plays a central role in DNA repair by bridging proteins and promoting recruitment of proteins to DNA damage sites (PubMed:30898438, PubMed:35597237, PubMed:37674080). Involved in double-strand break (DSB) repair via homologous recombination in S-phase by promoting the exchange between the DNA replication factor A (RPA) complex and RAD51 (PubMed:26811421, PubMed:35597237). Mechanistically, TOPBP1 is recruited to DNA damage sites in S-phase via interaction with phosphorylated HTATSF1, and promotes the loading of RAD51, thereby facilitating RAD51 nucleofilaments formation and RPA displacement, followed by homologous recombination (PubMed:35597237). Involved in microhomology-mediated end-joining (MMEJ) DNA repair by promoting recruitment of polymerase theta (POLQ) to DNA damage sites during mitosis (PubMed:37674080). MMEJ is an alternative non-homologous end-joining (NHEJ) machinery that takes place during mitosis to repair DSBs in DNA that originate in S-phase (PubMed:37674080). Recognizes and binds POLQ phosphorylated by PLK1, enabling its recruitment to DSBs for subsequent repair (PubMed:37674080). Involved in G1 DNA damage checkpoint by acting as a molecular adapter that couples TP53BP1 and the 9-1-1 complex (PubMed:31135337). In response to DNA damage, triggers the recruitment of checkpoint signaling proteins on chromatin, which activate the CHEK1 signaling pathway and block S-phase progression (PubMed:16530042, PubMed:21777809). Acts as an activator of the kinase activity of ATR (PubMed:16530042, PubMed:21777809). Also required for chromosomal stability when DSBs occur during mitosis by forming filamentous assemblies that bridge MDC1 and tether broken chromosomes during mitosis (PubMed:30898438). Together with CIP2A, 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). Recruits the SWI/SNF chromatin remodeling complex to E2F1-responsive promoters, thereby down-regulating E2F1 activity and inhibiting E2F1-dependent apoptosis during G1/S transition and after DNA damage (PubMed:12697828, PubMed:15075294)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Spatial organization and functions of Chk1 activation by TopBP1 biomolecular condensates., [RefSeq, PubMed]; This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of DNA strands. [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": 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": 27, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 40, "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": "B7Z7W8;Q7LGC1;Q9UEB9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0042802 identical protein binding;GO:0043539 protein serine/threonine kinase activator activity;GO:0140031 phosphorylation-dependent protein binding;GO:0140463 chromatin-protein adaptor activity", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome", "go_biological_process": "GO:1990166 protein localization to site of double-strand break;GO:0000076 DNA replication checkpoint signaling;GO:0097680 double-strand break repair via classical nonhomologous end joining;GO:0097681 double-strand break repair via alternative nonhomologous end joining;GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 26.2, "record_id": "Q92547-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NA82-1", "uniprot_id": [ { "id": "MARHA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NA82", "type": "external" } ], "mass": 90511.0, "length": 808, "protein_name": "Probable E3 ubiquitin-protein ligase MARCHF10", "gene_name": "MARCHF10", "organism": "Human", "refseq_name": "probable E3 ubiquitin-protein ligase MARCHF10 isoform 1", "refseq_ac": [ { "id": "NP_001094345", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094345", "type": "external" } ], "gene_names_uniprotkb": "MARCHF10; MARCH10; RNF190", "gene_names_refseq": "MARCH-X; MARCH10; MARCHF10; RNF190", "protein_names_uniprotkb": "Probable E3 ubiquitin-protein ligase MARCHF10; 2.3.2.27; MARCH-X; Membrane-associated RING finger protein 10; Membrane-associated RING-CH protein X; RING finger protein 190; RING-type E3 ubiquitin transferase MARCHF10", "protein_names_refseq": "RING-type E3 ubiquitin transferase MARCH10; RING-type E3 ubiquitin transferase MARCHF10; membrane associated ring finger 10; membrane-associated RING finger protein 10; membrane-associated RING-CH protein X; membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase; probable E3 ubiquitin-protein ligase MARCH10; probable E3 ubiquitin-protein ligase MARCHF10 isoform 1; probable E3 ubiquitin-protein ligase MARCHF10; ring finger protein 190; testis secretory sperm-binding protein Li 228n", "tax_id": 9606, "disease": "", "pathway": " (hsa:162333)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;19724895;19851296;20198315;29485866;29557506;30379171;31844290;33968037;34087483;34561969;35051231", "class_list": "", "function": "E3 ubiquitin-protein ligase (Probable). E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates., [UniProtKB]; MARCH10 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "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": "D3DU09;Q8IYS7;Q8N7Z7", "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": 1.7, "record_id": "Q8NA82-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q03154-1", "uniprot_id": [ { "id": "ACY1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q03154", "type": "external" } ], "mass": 45885.0, "length": 408, "protein_name": "Aminoacylase-1", "gene_name": "ACY1", "organism": "Human", "refseq_name": "aminoacylase-1 isoform a", "refseq_ac": [ { "id": "NP_000657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000657", "type": "external" } ], "gene_names_uniprotkb": "ACY1", "gene_names_refseq": "ACY-1; ACY1D; ACY1; HEL-S-5", "protein_names_uniprotkb": "Aminoacylase-1; 3.5.1.14; ACY-1; N-acyl-L-amino-acid amidohydrolase", "protein_names_refseq": "N-acyl-L-amino-acid amidohydrolase; acylase; aminoacylase-1 isoform a; epididymis secretory protein Li 5", "tax_id": 9606, "disease": "aminoacylase 1 deficiency (MONDO:MONDO:0012368)", "pathway": " (hsa:95); (R-HSA-5423646); (R-HSA-5579007); (R-HSA-9753281)", "pathway_count": 4, "publication_count": 98, "publication_id_list": "10741631;11237011;11409944;11714888;11904223;12144777;12473676;12727802;12933810;1504254;16274666;16385575;1643250;16465618;16696573;16959974;16970545;17562838;17627974;17924658;18232020;18357469;18416522;19463;19842618;20190787;21414403;21666065;21712391;22349737;22406294;22905912;23682772;24715725;25645385;2573352;26049587;26067475;26375851;26758079;26992070;27862975;28411811;28832583;29437277;29493099;29508533;29557506;30410026;31844290;32157095;32265295;32325220;32350084;32387766;32472168;32488085;32897882;32938616;33298915;33392160;33537174;33619241;3372534;33912179;33936100;3395122;33968037;34002044;34171305;34185709;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;3931076;6950087;70646;7469630;7764673;7766804;8357837;8394326;8439558;8703034;8812420;8813074;8975785;9024171;9080;9278457;9576847", "class_list": "", "function": "Aminoacylase 1 (ACY-1) Mediates the Proliferation and Migration of Neuroblastoma Cells in Humans Through the ERK/Transforming Growth Factor beta (TGF-beta) Signaling Pathways. Publication Status: Online-Only, [RefSeq, PubMed]; Aminoacylase involved in the hydrolysis of N-acetylated and N-formylated amino acids. May act sequentially with APEH in the degradation of N-acylated peptides: APEH first cleaves N-acylaminoacids from N-acylated peptides, then ACY1 further hydrolyzes the N-acylaminoacid into free aminoacid and a carboxylate., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; First report of a patient with aminoacylase I deficiency, [RefSeq, PubMed]; Genetic deficiency of ACY1 leads to functional ACY1 deficiency and excretion of N-acetylated amino acids., [RefSeq, PubMed]; LncRNA MAGI2-AS3 inhibits tumor progression and angiogenesis by regulating ACY1 via interacting with transcription factor HEY1 in clear cell renal cell carcinoma., [RefSeq, PubMed]; This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18. [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": 0, "reported_mutagensis": 9, "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": "C9J6I6;C9J9D8;C9JWD4", "ec_number_list": [ { "id": "3.5.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.14", "type": "external" }, { "id": "3.5.1.114", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.114", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" } ], "go_molecular_function": "GO:0004046 aminoacylase activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0008463 formylmethionine deformylase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0005737 cytoplasm", "go_biological_process": "GO:0006520 amino acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q03154-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WV93-1", "uniprot_id": [ { "id": "AFG1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WV93", "type": "external" } ], "mass": 54845.0, "length": 481, "protein_name": "AFG1-like ATPase", "gene_name": "AFG1L", "organism": "Human", "refseq_name": "AFG1-like ATPase isoform b", "refseq_ac": [ { "id": "NP_001309934", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309934", "type": "external" } ], "gene_names_uniprotkb": "AFG1L; AFG1; LACE1", "gene_names_refseq": "AFG1L; AFG1; LACE1; c222389", "protein_names_uniprotkb": "AFG1-like ATPase; 3.6.-.-; Lactation elevated protein 1; Protein AFG1 homolog", "protein_names_refseq": "AFG1-like ATPase isoform b; ATPase family gene 1 homolog; CG8520 gene product; lactation elevated 1; lactation elevated protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:246269)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;12079282;20872768;25880248;26759378;27323408;28228285;29314611;29557506;31844290;32157095;32983136;33392160;35051231", "class_list": "", "function": "Association between bipolar disorder and two SNPs in the gene LACE1, [RefSeq, PubMed]; Increased expression of LACE1 partitions p53 to mitochondria, causes reduction in nuclear p53 content and induces apoptosis. Thus, LACE1 mediates mitochondrial translocation of p53 and its transcription-independent apoptosis., [RefSeq, PubMed]; Putative mitochondrial ATPase. Plays a role in mitochondrial morphology and mitochondrial protein metabolism. Promotes degradation of excess nuclear-encoded complex IV subunits (COX4I1, COX5A and COX6A1) and normal activity of complexes III and IV of the respiratory chain (PubMed:26759378, PubMed:27323408). Mediates mitochondrial translocation of TP53 and its transcription-independent apoptosis in response to genotoxic stress (PubMed:27323408)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]., [RefSeq]; This study establishes LACE1 as a novel factor with a crucial role in mitochondrial protein homeostasis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q8N6A3", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0007005 mitochondrion organization;GO:0035694 mitochondrial protein catabolic process;GO:0141164 mitochondrial protein quality control", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8WV93-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15033-1", "uniprot_id": [ { "id": "AREL1_HUMAN", "url": "https://www.uniprot.org/uniprot/O15033", "type": "external" } ], "mass": 94223.0, "length": 823, "protein_name": "Apoptosis-resistant E3 ubiquitin protein ligase 1", "gene_name": "AREL1", "organism": "Human", "refseq_name": "apoptosis-resistant E3 ubiquitin protein ligase 1 isoform 1", "refseq_ac": [ { "id": "NP_001034568", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034568", "type": "external" } ], "gene_names_uniprotkb": "AREL1; KIAA0317", "gene_names_refseq": "AREL1; FIEL1; KIAA0317", "protein_names_uniprotkb": "Apoptosis-resistant E3 ubiquitin protein ligase 1; 2.3.2.26; Apoptosis-resistant HECT-type E3 ubiquitin transferase 1", "protein_names_refseq": "apoptosis-resistant E3 ubiquitin protein ligase 1 isoform 1; apoptosis-resistant HECT-type E3 ubiquitin transferase 1; fibrosis-inducing E3 ligase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9870); (R-HSA-983168)", "pathway_count": 2, "publication_count": 57, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;2261476;23479728;23481700;24714562;25418920;25645385;25752577;25892735;26154972;27162139;28228285;28832583;28855257;28904123;29242379;29393594;29557506;29632046;30315122;31578312;31732561;31844290;32151281;32157095;32350084;32357974;32387766;32938616;33298915;33912179;33968037;34171305;34509645;35051231;35580925;37522329;9380723;9668046", "class_list": "", "function": "AREL1 resists the apoptosis induced by TGF-beta by inhibiting SMAC in vascular endothelial cells., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that catalyzes 'Lys-11'- or 'Lys-33'-linked polyubiquitin chains, with some preference for 'Lys-33' linkages (PubMed:25752577). E3 ubiquitin-protein ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:23479728, PubMed:31578312). Ubiquitinates SEPTIN4, DIABLO/SMAC and HTRA2 in vitro (PubMed:23479728). Modulates pulmonary inflammation by targeting SOCS2 for ubiquitination and subsequent degradation by the proteasome (PubMed:31578312)., [UniProtKB, PubMed, PubMed, PubMed]; Epigenetic modulation of AREL1 and increased HLA expression in brains of multiple system atrophy patients. Publication Status: Online-Only, [RefSeq, PubMed]; New protein isoform encoded by KIAA0317, termed fibrosis-inducing E3 ligase 1 (FIEL1), which potently stimulates the TGFbeta signaling pathway through the site-specific ubiquitination of PIAS4., [RefSeq, PubMed]; The AREL1 HECT domain assembled Lys(33)-, Lys(48)-, and Lys(63)-linked polyubiquitin chains. E701A substitution in the AREL1 HECT domain substantially increased its autopolyubiquitination and SMAC ubiquitination activity, whereas deletion of the last three amino acids at the C terminus completely abrogated AREL1 autoubiquitination and reduced SMAC 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": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B4E2C7;Q7LDY1;Q8IYY9", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0050727 regulation of inflammatory response;GO:0016567 protein ubiquitination;GO:0070979 protein K11-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "O15033-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05513-1", "uniprot_id": [ { "id": "KPCZ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05513", "type": "external" } ], "mass": 67660.0, "length": 592, "protein_name": "Protein kinase C zeta type", "gene_name": "PRKCZ", "organism": "Human", "refseq_name": "protein kinase C zeta type isoform 2", "refseq_ac": [ { "id": "NP_001028753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028753", "type": "external" } ], "gene_names_uniprotkb": "PRKCZ; PKC2", "gene_names_refseq": "PKC-ZETA; PKC2; PRKCZ", "protein_names_uniprotkb": "Protein kinase C zeta type; 2.7.11.13; nPKC-zeta", "protein_names_refseq": "nPKC-zeta; protein kinase C zeta type isoform 2; protein kinase C zeta type", "tax_id": 9606, "disease": "carcinoma (Disease Ontology:DOID:305); high grade glioma (Disease Ontology:DOID:3070); hyperglycemia (Disease Ontology:DOID:4195); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:5590); (R-HSA-114604); (R-HSA-2173791); (R-HSA-5218921); (R-HSA-5668599); (R-HSA-9634635)", "pathway_count": 6, "publication_count": 174, "publication_id_list": "10026222;10072071;10228164;10356400;10357815;10400704;10421574;10455184;10469124;10802064;10877843;11035106;11090627;11141077;11145705;11222751;11237011;11260256;11262396;11387210;11447115;11481033;11600407;11689445;11726503;11755531;11781095;12056906;12162751;12234671;12391145;12716910;12761192;12776187;12781924;12813055;12832405;12840507;12887331;12887891;12893243;12904306;12953056;14500673;14530365;14532121;14580237;14657501;15084291;15314172;15324659;15591124;15665819;15708849;15761148;15824103;15879121;16051884;16174766;16322752;16329988;16507994;1660188;16636067;16762923;16778989;16792529;16820280;16829026;16861033;16903823;16938345;16959974;17081983;17313651;17335005;17344846;17583407;17616532;18190796;18321849;18347018;18589439;18669648;18691976;1874735;18955485;19372727;19409513;19700402;19850008;19879889;20332120;20807769;20813901;20844151;20956805;21239714;21258369;22267732;22564745;22808130;23289851;23481700;23875749;23980663;24275569;24682284;25877926;26583432;26768311;27397612;27543614;27558335;28285879;2841328;28539435;28736554;28904123;29557506;29632711;29930882;31519760;31844290;32157095;32938616;33298915;33301813;33592498;33912179;33936100;33968037;33981976;34171305;34509645;34932366;35051231;35124330;35318648;35580925;36010968;36040231;36241641;36284347;37029374;37340593;37890607;37938771;39272077;7597083;7624799;8089108;8224878;8246984;8375396;8617742;8635462;8673706;8986718;8990121;9028946;9199319;9218480;9233797;9264403;9438848;9447975;9448290;9566925;9748166;9768361;9804763;9889098;9895304", "class_list": "", "function": "Calcium- and diacylglycerol-independent serine/threonine-protein kinase that functions in phosphatidylinositol 3-kinase (PI3K) pathway and mitogen-activated protein (MAP) kinase cascade, and is involved in NF-kappa-B activation, mitogenic signaling, cell proliferation, cell polarity, inflammatory response and maintenance of long-term potentiation (LTP). Upon lipopolysaccharide (LPS) treatment in macrophages, or following mitogenic stimuli, functions downstream of PI3K to activate MAP2K1/MEK1-MAPK1/ERK2 signaling cascade independently of RAF1 activation. Required for insulin-dependent activation of AKT3, but may function as an adapter rather than a direct activator. Upon insulin treatment may act as a downstream effector of PI3K and contribute to the activation of translocation of the glucose transporter SLC2A4/GLUT4 and subsequent glucose transport in adipocytes. In EGF-induced cells, binds and activates MAP2K5/MEK5-MAPK7/ERK5 independently of its kinase activity and can activate JUN promoter through MEF2C. Through binding with SQSTM1/p62, functions in interleukin-1 signaling and activation of NF-kappa-B with the specific adapters RIPK1 and TRAF6. Participates in TNF-dependent transactivation of NF-kappa-B by phosphorylating and activating IKBKB kinase, which in turn leads to the degradation of NF-kappa-B inhibitors. In migrating astrocytes, forms a cytoplasmic complex with PARD6A and is recruited by CDC42 to function in the establishment of cell polarity along with the microtubule motor and dynein. In association with FEZ1, stimulates neuronal differentiation in PC12 cells. In the inflammatory response, is required for the T-helper 2 (Th2) differentiation process, including interleukin production, efficient activation of JAK1 and the subsequent phosphorylation and nuclear translocation of STAT6. May be involved in development of allergic airway inflammation (asthma), a process dependent on Th2 immune response. In the NF-kappa-B-mediated inflammatory response, can relieve SETD6-dependent repression of NF-kappa-B target genes by phosphorylating the RELA subunit at 'Ser-311'. Phosphorylates VAMP2 in vitro (PubMed:17313651). Phosphorylates and activates LRRK1, which phosphorylates RAB proteins involved in intracellular trafficking (PubMed:36040231)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Genetic polymorphism in untranslated regions of PRKCZ influences mRNA structure, stability and binding sites. Publication Status: Online-Only, [RefSeq, PubMed]; Human placenta and trophoblasts simultaneously express three isoforms of atypical protein kinase-c., [RefSeq, PubMed]; Involved in late synaptic long term potention phase in CA1 hippocampal cells and long term memory maintenance., [UniProtKB, UniProtKB]; PKC-zeta mediated reduction of the extracellular vesicles-associated TGF-beta1 overcomes radiotherapy resistance in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; PKCzeta activation promotes maturation of cord blood T cells towards a Th1 IFN-gamma propensity., [RefSeq, PubMed]; PKCzeta phosphorylates VASP to mediate chemotaxis in breast cancer cells., [RefSeq, PubMed]; Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a kinase activity which is independent of calcium and diacylglycerol but not of phosphatidylserine. Furthermore, it is insensitive to typical PKC inhibitors and cannot be activated by phorbol ester. Unlike the classical PKC isoenzymes, it has only a single zinc finger module. These structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. Alternative splicing results in multiple 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8K4N0;A8MU64;B7Z2J7;E9PCW2;Q15207;Q5SYT5;Q969S4", "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": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "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": "2.7.11.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.30", "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": "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": "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": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.7.1.91", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.91", "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:0008270 zinc ion binding;GO:0004697 diacylglycerol-dependent serine/threonine kinase activity", "go_cellular_component": "GO:0035748 myelin sheath abaxonal region;GO:0045179 apical cortex;GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005768 endosome", "go_biological_process": "GO:0032736 positive regulation of interleukin-13 production;GO:0032754 positive regulation of interleukin-5 production;GO:0046627 negative regulation of insulin receptor signaling pathway;GO:0006468 protein phosphorylation;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 17.7, "record_id": "Q05513-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94910-1", "uniprot_id": [ { "id": "AGRL1_HUMAN", "url": "https://www.uniprot.org/uniprot/O94910", "type": "external" } ], "mass": 162717.0, "length": 1474, "protein_name": "Adhesion G protein-coupled receptor L1", "gene_name": "ADGRL1", "organism": "Human", "refseq_name": "adhesion G protein-coupled receptor L1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001008701", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008701", "type": "external" } ], "gene_names_uniprotkb": "ADGRL1; KIAA0821; LEC2; LPHN1", "gene_names_refseq": "ADGRL1; CIRL1; CL1; DEDBANP; LEC2; LPHN1", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor L1; CIRL-1; Calcium-independent alpha-latrotoxin receptor 1; Latrophilin-1; Lectomedin-2", "protein_names_refseq": "CIRL-1; adhesion G protein-coupled receptor L1 isoform 1 precursor; calcium-independent alpha-latrotoxin receptor 1; latrophilin-1; lectomedin-2", "tax_id": 9606, "disease": "attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); developmental delay, behavioral abnormalities, and neuropsychiatric disorders (MONDO:MONDO:0859292)", "pathway": " (hsa:22859)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15144186;20068231;23090970;24190977;27869121;28904123;29393594;29938681;30457553;30459171;30779550;31154438;31217245;31222486;31339586;31844290;32157095;32350084;32357974;32387766;32938616;33912179;33968037;34171305;34357683;34509645;35051231;35251023;35494241;35580925;35907405;36010968;36241641;38349410;38664368", "class_list": "", "function": "ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model., [RefSeq, PubMed]; Alterations in latrophilin expression occur in AML cells expressing P-gp, [RefSeq, PubMed]; Calcium-independent receptor of high affinity for alpha-latrotoxin, an excitatory neurotoxin present in black widow spider venom which triggers massive exocytosis from neurons and neuroendocrine cells (PubMed:35907405). Receptor for TENM2 that mediates heterophilic synaptic cell-cell contact and postsynaptic specialization. Receptor probably implicated in the regulation of exocytosis (By similarity)., [UniProtKB, UniProtKB, PubMed]; Dysfunction of the adhesion G protein-coupled receptor latrophilin 1 (ADGRL1/LPHN1) increases the risk of obesity. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that SSB splicing selectively affects the duality of LPHN1 signaling toward opposing cAMP pathways, [RefSeq, PubMed]; These findings reveal a novel mechanism of axonal pathfinding, whereby latrophilin-1 and Lasso mediate both short-range interaction that supports synaptogenesis, and long-range signaling that induces axonal attraction. Publication Status: Online-Only, [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. Latrophilin-1 has been shown to recruit the neurotoxin from black widow spider venom, alpha-latrotoxin, to the synapse plasma membrane. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Oct 2008]., [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": 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": 0, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 9409, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q96IE7;Q9BU07;Q9HAR3", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0050839 cell adhesion molecule binding;GO:0016524 latrotoxin receptor activity;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon;GO:0030426 growth cone;GO:0045202 synapse", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "O94910-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14520-1", "uniprot_id": [ { "id": "AQP7_HUMAN", "url": "https://www.uniprot.org/uniprot/O14520", "type": "external" } ], "mass": 37232.0, "length": 342, "protein_name": "Aquaporin-7", "gene_name": "AQP7", "organism": "Human", "refseq_name": "aquaporin-7 isoform 1", "refseq_ac": [ { "id": "NP_001161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161", "type": "external" } ], "gene_names_uniprotkb": "AQP7; AQP7L; AQP9", "gene_names_refseq": "AQP7L; AQP7; AQPap; GLYCQTL", "protein_names_uniprotkb": "Aquaporin-7; AQP-7; AQPap; Aquaglyceroporin-7; Aquaporin adipose; Aquaporin-7-like", "protein_names_refseq": "aquaglyceroporin-7; aquaporin adipose; aquaporin-7 isoform 1", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); morbid obesity (Disease Ontology:DOID:11981); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obsolete glycerol quantitative trait locus (MONDO:MONDO:0044280)", "pathway": " (hsa:364); (R-HSA-432030); (R-HSA-432047)", "pathway_count": 3, "publication_count": 71, "publication_id_list": "10510269;10564231;11001937;11027599;11034202;11076974;11231887;11237011;11532455;11573934;11952783;12084581;12801959;1373524;14514735;14592814;14701836;1510932;15703994;15948717;16325777;16407156;16596446;17178220;17374283;17566090;17920625;17961083;18202181;18501347;18511455;18555844;18678926;18762715;18768791;18948439;19144687;19170255;19383790;19574955;19590626;19857466;20147624;21251984;23359558;27832861;27862975;30420639;30423801;3049610;31154438;32695023;34509645;35051231;35366004;35580925;36737436;37566082;39456161;7510718;7530250;7535000;7678419;8140421;8621489;8812490;8855281;9369468;9405233;9806845;9829975", "class_list": "", "function": "Aquaglyceroporins form homotetrameric transmembrane channels, with each monomer independently mediating glycerol and water transport across the plasma membrane along their osmotic gradient (PubMed:11952783, PubMed:30420639, PubMed:30423801, PubMed:36737436, PubMed:9405233). Could also be permeable to urea (PubMed:9405233). Mediates the efflux of glycerol, formed upon triglyceride hydrolysis, to avoid its accumulation in adipocytes and to make it available to other tissues. In the kidney, mediates the reabsorption of glycerol, preventing its loss in urine, again participating to energy homeostasis. In pancreatic beta cells, it also mediates the efflux of glycerol, regulating its intracellular levels (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Aquaporin-7-Mediated Glycerol Permeability Is Linked to Human Sperm Motility in Asthenozoospermia and during Sperm Capacitation. Publication Status: Online-Only, [RefSeq, PubMed]; Cholecystokinin promotes functional expression of the aquaglycerol channel aquaporin 7 in adipocytes., [RefSeq, PubMed]; Cryo-EM structure supports a role of AQP7 as a junction protein. Publication Status: Online-Only, [RefSeq, PubMed]; Determination of genomic structure, promotor analysis and functional mutation, [RefSeq, PubMed]; The Important Role of Aquaglyceroporin 7 in Health and Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded protein is localized to the apical membrane and prevents excretion of glycerol into urine. The encoded protein is present in spermatids, as well as in the testicular and epididymal spermatozoa suggesting an important role in late spermatogenesis. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related aquaporin gene on chromosome 9. Multiple pseudogenes of this gene 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 10, "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": "Q08E94;Q5T5L9;Q8NHM3", "ec_number_list": [], "go_molecular_function": "GO:0015250 water channel activity;GO:0015254 glycerol channel activity;GO:0015204 urea transmembrane transporter activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005811 lipid droplet;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0006833 water transport;GO:0015793 glycerol transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "O14520-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00189-1", "uniprot_id": [ { "id": "AP4M1_HUMAN", "url": "https://www.uniprot.org/uniprot/O00189", "type": "external" } ], "mass": 49977.0, "length": 453, "protein_name": "AP-4 complex subunit mu-1", "gene_name": "AP4M1", "organism": "Human", "refseq_name": "AP-4 complex subunit mu-1 isoform 1", "refseq_ac": [ { "id": "NP_004713", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004713", "type": "external" } ], "gene_names_uniprotkb": "AP4M1; MUARP2", "gene_names_refseq": "AP4M1; CPSQ3; MU-4; MU-ARP2; SPG50", "protein_names_uniprotkb": "AP-4 complex subunit mu-1; AP-4 adaptor complex mu subunit; Adaptor-related protein complex 4 subunit mu-1; Mu subunit of AP-4; Mu-adaptin-related protein 2; Mu4-adaptin; mu-ARP2; mu4", "protein_names_refseq": "AP-4 adaptor complex mu subunit; AP-4 complex subunit mu-1 isoform 1; AP-4 complex subunit mu-1; adapter-related protein complex 4 mu-1 subunit; adapter-related protein complex 4 subunit mu-1; adaptor related protein complex 4 mu 1 subunit; adaptor-related protein complex AP-4 mu4 subunit; mu subunit of AP-4; mu-adaptin-related protein-2; mu4-adaptin", "tax_id": 9606, "disease": "hereditary spastic paraplegia 50 (Disease Ontology:DOID:0110802)", "pathway": " (hsa:9179); (R-HSA-432720)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "10066790;10394364;10436028;11139587;11237011;11333915;11604418;11694590;11802162;11994746;16155256;16867982;17116749;19559397;19651769;20230749;20708039;21620353;23481700;24715725;25418920;25576301;26544806;26992070;28063628;28514659;28649982;28832583;28834231;28904123;29180427;29242379;29393594;29557506;29632046;29789417;30315122;31844290;32073997;32157095;32265295;32350084;32357974;32387766;32502341;32897882;33298915;33592498;33884525;33981976;34171305;35051231;35318648;35580925;36371792;37758467;8374173;8524399;8670264;9013859;9733768", "class_list": "", "function": "A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50., [RefSeq, PubMed]; Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028, PubMed:11139587, PubMed:11802162, PubMed:20230749). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system (PubMed:11139587, PubMed:20230749). It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons (By similarity). Within AP-4, the mu-type subunit AP4M1 is directly involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos (PubMed:10436028, PubMed:11139587, PubMed:20230749, PubMed:26544806). The adaptor protein complex 4 (AP-4) may also recognize other types of sorting signal (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia., [RefSeq, PubMed]; Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families., [RefSeq, PubMed]; This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [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": 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": "D6W5U1;Q8WV65;Q9UHK9", "ec_number_list": [], "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0035615 clathrin adaptor activity;GO:0008320 protein transmembrane transporter activity", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0031904 endosome lumen;GO:0032588 trans-Golgi network membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0006886 intracellular protein transport;GO:0006605 protein targeting;GO:0016192 vesicle-mediated transport;GO:0008104 intracellular protein localization", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "O00189-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BV10-1", "uniprot_id": [ { "id": "ALG12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BV10", "type": "external" } ], "mass": 54655.0, "length": 488, "protein_name": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "gene_name": "ALG12", "organism": "Human", "refseq_name": "dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "refseq_ac": [ { "id": "NP_077010", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077010", "type": "external" } ], "gene_names_uniprotkb": "ALG12; PP14673", "gene_names_refseq": "ALG12; CDG1G; ECM39; PP14673; hALG12", "protein_names_uniprotkb": "Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase; 2.4.1.260; Asparagine-linked glycosylation protein 12 homolog; Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase; Mannosyltransferase ALG12 homolog; Membrane protein SB87; hALG12", "protein_names_refseq": "asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase); asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase); asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog; asparagine-linked glycosylation protein 12 homolog; dol-P-Man dependent alpha-1,6-mannosyltransferase; dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase; dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase; dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1, 6-mannosyltransferase; dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6- mannosyltransferase; mannosyltransferase ALG12 homolog; membrane protein SB87", "tax_id": 9606, "disease": "congenital disorder of glycosylation type I (Disease Ontology:DOID:0050570); congenital disorder of glycosylation Ig (Disease Ontology:DOID:0080559)", "pathway": " (hsa:79087); (R-HSA-446193); (R-HSA-4720489)", "pathway_count": 3, "publication_count": 79, "publication_id_list": "10.1101/2023.09.13.557529;10359825;10704531;11237011;11278778;11807558;11983712;12030331;12093361;12200473;12217961;12684507;12736397;12872255;14709599;14973778;14973782;15148656;15235028;15498874;15710750;15840742;15945070;16007612;16100110;16859551;16878994;17506107;18313027;18477386;18597486;19282279;22742743;24715725;25019053;25418920;25576301;25645385;26375851;26992070;27846572;28218747;28832583;28834231;28904123;29242379;29331515;29437277;29557506;29786170;30315122;30410026;30429286;31154438;31481313;31529350;31530632;31844290;31848261;32157095;32357974;32387766;32897882;32938616;33141586;33392160;33537174;33592498;34092405;34185709;34357683;34467644;34932366;35051231;35580925;36010968;37938771;9451016;9597543", "class_list": "glycogene;glycosyltransferase", "function": "A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum., [RefSeq, PubMed]; As a whole, ALG12-CDG behaves as a dual CDG (CDG-I and II defects) and it is associated with distinct, abnormal glycosylation of total serum and IgG N-glycans, [RefSeq, PubMed]; Deficiency results in congenital disorders of glycosylation type Ig, [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, adds the eighth mannose residue in an alpha-1,6 linkage onto Man(7)GlcNAc(2)-PP-dolichol to produce Man(8)GlcNAc(2)-PP-dolichol., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation., [RefSeq, PubMed]; This enzyme has a role in glycosylation and its deficiency causes congenital disorder of glycosylation type Ig, [RefSeq, PubMed]; This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [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": 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": 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": 645, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6PWM1;Q4KMH4;Q8NG10;Q96AA4", "ec_number_list": [ { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.260", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.260", "type": "external" } ], "go_molecular_function": "GO:0000030 mannosyltransferase activity;GO:0000009 alpha-1,6-mannosyltransferase activity;GO:0052917 dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;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:0006457 protein folding;GO:0006487 protein N-linked glycosylation", "synthesized_glycan_count": 1244, "hit_score": 8.2, "record_id": "Q9BV10-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000010000000.010.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95633-1", "uniprot_id": [ { "id": "FSTL3_HUMAN", "url": "https://www.uniprot.org/uniprot/O95633", "type": "external" } ], "mass": 27663.0, "length": 263, "protein_name": "Follistatin-related protein 3", "gene_name": "FSTL3", "organism": "Human", "refseq_name": "follistatin-related protein 3 precursor", "refseq_ac": [ { "id": "NP_005851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005851", "type": "external" } ], "gene_names_uniprotkb": "FSTL3; FLRG; PRO1308", "gene_names_refseq": "FLRG; FSRP; FSTL3", "protein_names_uniprotkb": "Follistatin-related protein 3; Follistatin-like protein 3; Follistatin-related gene protein", "protein_names_refseq": "follistatin-like 3 (secreted glycoprotein); follistatin-like protein 3; follistatin-related gene protein; follistatin-related protein 3 precursor; follistatin-related protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:10272); (R-HSA-2473224); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 4, "publication_count": 92, "publication_id_list": "10.1101/2023.09.13.557529;10026136;10077652;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11459787;11522292;11606061;11739083;11751371;11788658;11948405;11956142;12241545;12379487;12466191;12697670;12810533;12904166;12970321;12975309;1370451;1383255;15126567;15308688;15340161;15451575;15469690;15485880;15525596;15574124;15642270;1592877;16150905;16198295;16336961;17047378;17249697;17312271;17868029;17878677;17985932;18768470;20187088;22052913;23090970;24190977;2476804;2479552;26091039;32350084;34433824;36807490;37739334;37751246;37904173;38044354;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7678220;7683646;7689487;8033815;8781553;8817670;8894645;8964575;9497324;9671416;9709957;9733769;9786878;9922210", "class_list": "", "function": "FSTL3 partially mediates the association of increased nonalcoholic fatty liver disease fibrosis risk with acute myocardial infarction in patients with type 2 diabetes mellitus. Publication Status: Online-Only, [RefSeq, PubMed]; Follistatin and follistatin-like 3 in metabolic disorders. Review article, [RefSeq, PubMed]; Follistatin-like 3 is a secreted glycoprotein of the follistatin-module-protein family. It may have a role in leukemogenesis. [provided by RefSeq, Jul 2008]., [RefSeq]; Isoform 1 or the secreted form is a binding and antagonizing protein for members of the TGF-beta family, such as activin, BMP2 and MSTN. Inhibits activin A-, activin B-, BMP2- and MSDT-induced cellular signaling; more effective on activin A than on activin B. Involved in bone formation; inhibits osteoclast differentiation. Involved in hematopoiesis; involved in differentiation of hemopoietic progenitor cells, increases hematopoietic cell adhesion to fibronectin and seems to contribute to the adhesion of hematopoietic precursor cells to the bone marrow stroma. Isoform 2 or the nuclear form is probably involved in transcriptional regulation via interaction with MLLT10., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Prognostic Impact of FSTL3, ADAM12, and FAT4 in Patients of Colon Cancer: Clinicopathologic Study., [RefSeq, PubMed]; Stroma-associated FSTL3 is a factor of calcium channel-derived tumor fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; The cytoplasmic expression of FSTL3 correlates with colorectal cancer progression, metastasis status and prognosis., [RefSeq, PubMed]; Transcription activation of FLRG and follistatin by activin A, through Smad proteins, participates in a negative feedback loop to modulate activin A 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": 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": 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": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K7E3", "ec_number_list": [], "go_molecular_function": "GO:0048185 activin binding;GO:0001968 fibronectin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0022409 positive regulation of cell-cell adhesion;GO:0006351 DNA-templated transcription;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": 9.7, "record_id": "O95633-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08631-1", "uniprot_id": [ { "id": "HCK_HUMAN", "url": "https://www.uniprot.org/uniprot/P08631", "type": "external" } ], "mass": 59600.0, "length": 526, "protein_name": "Tyrosine-protein kinase HCK", "gene_name": "HCK", "organism": "Human", "refseq_name": "tyrosine-protein kinase HCK isoform b", "refseq_ac": [ { "id": "NP_001165600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165600", "type": "external" } ], "gene_names_uniprotkb": "HCK", "gene_names_refseq": "AIPCV; HCK; JTK9; p59Hck; p61Hck", "protein_names_uniprotkb": "Tyrosine-protein kinase HCK; 2.7.10.2; Hematopoietic cell kinase; Hemopoietic cell kinase; p59-HCK/p60-HCK; p59Hck; p61Hck", "protein_names_refseq": "hematopoietic cell kinase; hemopoietic cell kinase; p59-HCK/p60-HCK; tyrosine-protein kinase HCK isoform b; tyrosine-protein kinase HCK", "tax_id": 9606, "disease": "intestinal cancer (Disease Ontology:DOID:10155); Goldenhar syndrome (Disease Ontology:DOID:2907); colorectal cancer (Disease Ontology:DOID:9256); autoinflammation with pulmonary and cutaneous vasculitis (MONDO:MONDO:0957204)", "pathway": " (hsa:3055); (R-HSA-164944); (R-HSA-2029481); (R-HSA-912631); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-9674555); (R-HSA-9680350); (R-HSA-9705462); (R-HSA-9706374)", "pathway_count": 10, "publication_count": 229, "publication_id_list": "10092522;10219243;10360180;10537111;10544125;10579907;10607567;10618429;10643150;10644735;10724160;10779760;10861086;10934191;10967098;10973280;10995437;11070003;11160719;11237011;11278465;11518702;11741929;11854399;11896602;11904303;11976726;12117970;12133942;12411494;12417718;12881521;12882960;1314888;1334462;1372004;14512302;14737186;14985335;15010462;15107455;15161916;15452139;15601820;1572549;15879134;15952790;15998323;16188976;16216497;16282498;16492764;16497976;16546099;16684964;16720384;16849330;16921024;16979207;16997556;1701053;17016520;17141806;17202354;17308335;17310994;17344846;17363902;17535448;17668209;17879956;18070890;18083107;18374639;18467591;18538446;18644434;1875927;18818202;19114024;19369195;19453968;19664994;19718658;19741094;19807924;19903482;19955216;20452982;20489731;20810664;21037092;21049007;21338576;21477083;2147944;21625496;21654843;2196173;22153499;22483114;23481700;23675550;24220695;24275569;24366607;24525236;24715725;2474607;24890514;2529342;25469238;25505266;25892735;26029847;26154972;26235028;26375851;26848862;27452731;27726376;27920218;28218747;28228285;28832583;28904123;29062038;29242379;29351928;29393594;29508533;29557506;29632711;29769354;29786170;30315122;30410026;30429286;30573663;30644389;31154438;31530632;32157095;32162841;32350084;32502341;32938616;32983136;33043033;33141586;33298915;33392160;33912179;34211107;34357683;34509645;3453117;34536415;3496523;35051231;35154160;35251023;35280440;35580925;35639855;37342066;7512720;7512959;7516890;7517665;7521687;7521688;7522622;7530449;7535819;7537740;7597091;7681396;7692230;7718892;7737969;7791757;7805849;7859737;8064233;8132624;8197119;8226994;8327478;8340414;8355686;8541526;8599760;8611682;8626543;8649859;8657103;8809042;8862523;8977235;8981370;8986718;8995234;8995358;9000504;9024658;9024665;9042338;9050880;9109402;9162098;9200440;9218412;9225065;9226159;9259313;9314552;9351809;9406996;9407116;9525940;9571048;9590251;9778343;9857068;9864153;9883880;9885206;9885284", "class_list": "", "function": "Alternate use of a non-AUG (CUG), and an in-frame, downstream AUG translation initiation codon, results in the production of two isoforms with different subcellular localization., [RefSeq, PubMed, PubMed]; HCK Promotes High-Grade Serous Ovarian Cancer Tumorigenesis through CD44 and NOTCH3 Signaling., [RefSeq, PubMed]; HCK is a Potential Prognostic Biomarker that Correlates with Immune Cell Infiltration in Acute Myeloid Leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Kinase-deficient BTK mutants confer ibrutinib resistance through activation of the kinase HCK., [RefSeq, PubMed]; Non-receptor tyrosine-protein kinase found in hematopoietic cells that transmits signals from cell surface receptors and plays an important role in the regulation of innate immune responses, including neutrophil, monocyte, macrophage and mast cell functions, phagocytosis, cell survival and proliferation, cell adhesion and migration. Acts downstream of receptors that bind the Fc region of immunoglobulins, such as FCGR1A and FCGR2A, but also CSF3R, PLAUR, the receptors for IFNG, IL2, IL6 and IL8, and integrins, such as ITGB1 and ITGB2. During the phagocytic process, mediates mobilization of secretory lysosomes, degranulation, and activation of NADPH oxidase to bring about the respiratory burst. Plays a role in the release of inflammatory molecules. Promotes reorganization of the actin cytoskeleton and actin polymerization, formation of podosomes and cell protrusions. Inhibits TP73-mediated transcription activation and TP73-mediated apoptosis. Phosphorylates CBL in response to activation of immunoglobulin gamma Fc region receptors. Phosphorylates ADAM15, BCR, ELMO1, FCGR2A, GAB1, GAB2, RAPGEF1, STAT5B, TP73, VAV1 and WAS., [UniProtKB, 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 is a member of the Src family of tyrosine kinases. This protein is primarily hemopoietic, particularly in cells of the myeloid and B-lymphoid lineages. It may help couple the Fc receptor to the activation of the respiratory burst. In addition, it may play a role in neutrophil migration and in the degranulation of neutrophils. Multiple isoforms with different subcellular distributions are produced due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) codon. [provided by RefSeq, Feb 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": 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": 9, "reported_glycation": 0, "reported_snv": 20, "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": "A8K1I1;B4DQB6;E1P5M2;Q29RX1;Q2VPE2;Q504R5;Q5T7K1;Q5T7K2;Q96CC0;Q9H5Y5;Q9NUA4;Q9UMJ5", "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": "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": "2.7.11.13", "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" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "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:0005634 nucleus;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane", "go_biological_process": "GO:0002522 leukocyte migration involved in immune response;GO:0071801 regulation of podosome assembly;GO:0006468 protein phosphorylation;GO:0006954 inflammatory response;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 23.3, "record_id": "P08631-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H013-1", "uniprot_id": [ { "id": "ADA19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H013", "type": "external" } ], "mass": 104997.0, "length": 955, "protein_name": "Disintegrin and metalloproteinase domain-containing protein 19", "gene_name": "ADAM19", "organism": "Human", "refseq_name": "disintegrin and metalloproteinase domain-containing protein 19 preproprotein", "refseq_ac": [ { "id": "NP_150377", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_150377", "type": "external" } ], "gene_names_uniprotkb": "ADAM19; FKSG34; MLTNB", "gene_names_refseq": "ADAM19; FKSG34; MADDAM; MLTNB", "protein_names_uniprotkb": "Disintegrin and metalloproteinase domain-containing protein 19; 3.4.24.-; ADAM 19; MADDAM; Meltrin-beta; Metalloprotease and disintegrin dendritic antigen marker", "protein_names_refseq": "a disintegrin and metalloproteinase domain 19 (meltrin beta); disintegrin and metalloproteinase domain-containing protein 19 preproprotein; disintegrin and metalloproteinase domain-containing protein 19; metalloprotease and disintegrin dendritic antigen marker; metalloprotease-disintegrin meltrin beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:8728); (R-HSA-8941237); (R-HSA-9762292)", "pathway_count": 3, "publication_count": 52, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10320525;10887142;11162584;11237011;12006600;12615925;16959974;18772397;23584533;25466890;25576301;26154972;26992070;28228285;28467828;28514659;28740178;28832583;29110486;29242379;29314611;29317506;29493099;29508533;29632046;30429286;31217245;31844290;32157095;32350084;32502341;32938616;32983136;33091337;33298915;33592498;33633747;33936100;33968037;33981976;34357683;34433824;34561969;34927445;35051231;35154160;35251023;35388751;35580925;35902972", "class_list": "", "function": "ADAM19 and TUBB1 Correlate with Tumor Infiltrating Immune Cells and Predicts Prognosis in Osteosarcoma., [RefSeq, PubMed]; Activation by furin via one of two consecutive recognition sites, [RefSeq, PubMed]; Human umbilical cord mesenchymal stem cell-derived exosomal miR-335-5p attenuates the inflammation and tubular epithelial-myofibroblast transdifferentiation of renal tubular epithelial cells by reducing ADAM19 protein levels. Publication Status: Online-Only, [RefSeq, PubMed]; Participates in the proteolytic processing of beta-type neuregulin isoforms which are involved in neurogenesis and synaptogenesis, suggesting a regulatory role in glial cell. Also cleaves alpha-2 macroglobulin. May be involved in osteoblast differentiation and/or osteoblast activity in bone (By similarity)., [UniProtKB]; Synovial mesenchymal stem cell-derived exosomal miR-320c enhances chondrogenesis by targeting ADAM19., [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. This member is a type I transmembrane protein and serves as a marker for dendritic cell differentiation. It has been demonstrated to be an active metalloproteinase, which may be involved in normal physiological processes such as cell migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. It is proposed to play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and Alzheimer's disease. [provided by RefSeq, May 2013]., [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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q9BZL5;Q9UHP2", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0017124 SH3 domain binding;GO:0046872 metal ion binding;GO:1902945 metalloendopeptidase activity involved in amyloid precursor protein catabolic process", "go_cellular_component": "GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006509 membrane protein ectodomain proteolysis;GO:0010628 positive regulation of gene expression;GO:0016485 protein processing;GO:0001890 placenta development;GO:0042987 amyloid precursor protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9H013-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75688-1", "uniprot_id": [ { "id": "PPM1B_HUMAN", "url": "https://www.uniprot.org/uniprot/O75688", "type": "external" } ], "mass": 52643.0, "length": 479, "protein_name": "Protein phosphatase 1B", "gene_name": "PPM1B", "organism": "Human", "refseq_name": "protein phosphatase 1B isoform 5", "refseq_ac": [ { "id": "NP_001028729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028729", "type": "external" } ], "gene_names_uniprotkb": "PPM1B; PP2CB", "gene_names_refseq": "PP2C-beta-X; PP2C-beta; PP2CBETA; PP2CB; PPC2BETAX; PPM1B", "protein_names_uniprotkb": "Protein phosphatase 1B; 3.1.3.16; PP2C-beta; Protein phosphatase 2C isoform beta", "protein_names_refseq": "protein phosphatase 1B isoform 5; protein phosphatase 1B; protein phosphatase 2C-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:5495); (R-HSA-1169408); (R-HSA-9700645); (R-HSA-9725370)", "pathway_count": 4, "publication_count": 192, "publication_id_list": "10216106;10556217;10702393;10706082;10706887;10931946;10934142;10934208;11095724;11110708;11112487;11157743;11237011;11280786;11310834;11504915;11751994;11788588;11850821;11943732;11988758;12112524;12185581;12424201;12525615;12582176;12750159;12800156;12920229;12934099;14962911;15131269;15169778;15208656;15374880;15485925;15588951;15702989;15895073;15913950;16009940;16112642;16122702;16139798;16153455;16161041;16170336;16352599;16407192;16428300;16699525;16715065;16775314;16815975;16825495;16871283;16872604;16914094;16939498;17086210;17185414;17289916;17353907;17376915;17416736;17483340;17625570;18058037;18097461;18287095;18305167;18452557;18583345;18593892;18594010;18642328;18701132;18724359;18923523;18923524;18923525;18930133;19073728;19125153;19270716;19456272;19459784;20133869;20219937;20308324;20385878;20454865;21134980;21164297;21213368;21415216;21494621;21502504;21596819;21656749;21838707;21847362;21948233;22249260;22327622;22347464;22570254;22658521;22750291;22781750;23104988;23139213;23201355;23239810;23661334;23756813;23957430;24060861;24275569;24445538;24475247;24496003;24518094;24613930;24675041;24736082;25228534;25255805;25342631;25393796;25421750;25576301;25813404;25921060;26001147;26062823;26301689;26464158;26758079;26939704;26992070;27245569;27573755;27600516;27862975;27874193;28218747;28404650;28659337;28741662;28832583;28834231;28904123;29242379;29437277;29455642;29557506;29632711;29786170;29873274;30131584;30692217;31154438;31217245;31366041;31388026;31844290;31848261;31998317;32157095;32350084;32488085;32502341;32938616;33592498;33717175;33912179;34357683;35319516;35580925;36284347;36581221;36928924;37515673;37938771;38246397;7559393;7824924;8633037;9525617;9684878;9819383", "class_list": "", "function": "Circ_0090231 knockdown protects vascular smooth muscle cells from ox-LDL-induced proliferation, migration and invasion via miR-942-5p/PPM1B axis during atherosclerosis., [RefSeq, PubMed]; Enzyme with a broad specificity. Dephosphorylates CDK2 and CDK6 in vitro. Dephosphorylates PRKAA1 and PRKAA2. Inhibits TBK1-mediated antiviral signaling by dephosphorylating it at 'Ser-172'. Plays an important role in the termination of TNF-mediated NF-kappa-B activation through dephosphorylating and inactivating IKBKB/IKKB., [UniProtKB, PubMed, PubMed]; Pleckstrin-2-promoted PPM1B degradation plays an important role in transforming growth factor-beta-induced breast cancer cell invasion and metastasis., [RefSeq, PubMed]; Protein Phosphatase PPM1B Inhibits Gastric Cancer Progression and Serves as a Favorable Prognostic Biomarker., [RefSeq, PubMed]; RBM10 regulates the tumorigenic potential of human cancer cells by modulating PPM1B and YBX1 activities., [RefSeq, PubMed]; The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase has been shown to dephosphorylate cyclin-dependent kinases (CDKs), and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to cause cell-growth arrest or cell death. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional transcript variants have been described, but currently do not represent full-length 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q461Q2;Q4J6C1;Q4J6C2;Q658R4;Q96ER6;Q9HAY8", "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": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "6.1.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.16", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "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": "2.3.2.27", "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": "3.1.3.52", "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" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "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": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0030145 manganese ion binding;GO:0004722 protein serine/threonine phosphatase activity;GO:0004721 phosphoprotein phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0043124 negative regulation of canonical NF-kappaB signal transduction;GO:1901223 negative regulation of non-canonical NF-kappaB signal transduction;GO:0006470 protein dephosphorylation;GO:0090263 positive regulation of canonical Wnt signaling pathway;GO:0043122 regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "O75688-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14203-1", "uniprot_id": [ { "id": "DCTN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14203", "type": "external" } ], "mass": 141695.0, "length": 1278, "protein_name": "Dynactin subunit 1", "gene_name": "DCTN1", "organism": "Human", "refseq_name": "dynactin subunit 1 isoform 3", "refseq_ac": [ { "id": "NP_001128512", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128512", "type": "external" } ], "gene_names_uniprotkb": "DCTN1", "gene_names_refseq": "DAP-150; DCTN1; DP-150; HMND14; P135", "protein_names_uniprotkb": "Dynactin subunit 1; 150 kDa dynein-associated polypeptide; DAP-150; DP-150; p135; p150-glued", "protein_names_refseq": "150 kDa dynein-associated polypeptide; dynactin 1 (p150, glued homolog, Drosophila); dynactin subunit 1 isoform 3", "tax_id": 9606, "disease": "synucleinopathy (Disease Ontology:DOID:0050890); amyotrophic lateral sclerosis type 1 (Disease Ontology:DOID:0060193); Perry syndrome (Disease Ontology:DOID:0060486); autosomal dominant distal hereditary motor neuronopathy 14 (Disease Ontology:DOID:0111202); motor neuron disease (Disease Ontology:DOID:231); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); coronary artery disease (Disease Ontology:DOID:3393); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:1639); (R-HSA-2132295); (R-HSA-3371497); (R-HSA-381038); (R-HSA-6807878); (R-HSA-6811436); (R-HSA-9725370)", "pathway_count": 7, "publication_count": 506, "publication_id_list": "10036229;10052452;10064083;10072072;10216106;10318838;10359595;10445031;10480952;10540230;10556217;10559959;10559986;10562278;10593899;10601334;10631941;10631952;10639150;10679020;10702393;10706082;10706887;10747884;10748235;10761932;10809954;10827079;10903204;10921873;10934142;11035033;11080672;11110708;11172815;11237011;11280786;11285137;11306556;11310834;11461920;11483508;11504915;11529500;11589254;11684289;11689559;11701661;11703931;11726511;11748249;11751894;11751994;11790530;11813165;11850821;11853874;11943732;11988758;12047556;12063394;12070132;12078484;12112524;12185581;12198549;12204115;12388752;12401177;12424201;12432908;12447383;12627231;12634853;12742663;12748383;12750159;12781197;12800156;12920229;12925777;12934099;13486053;14514668;14654841;14654843;14731593;14742712;1493716;14962911;15037235;15159550;15169778;15208656;15326253;15374880;15381148;15466936;15483056;15588951;15591061;15616190;15632110;15728195;15749704;15813748;15878873;15895073;15911768;15914536;16030262;16109370;16153455;16161041;16170336;16181339;16207721;16240349;16242130;1631136;16314391;16403413;16461360;16505168;16539657;16618111;16633337;16723730;1680566;16824007;16825495;16871283;16912714;16926190;16939498;16940185;16949363;16964243;17086210;17142755;17253781;17274799;17283181;17322306;17353907;17360540;17416736;17429068;17451557;17483340;17488286;17532294;17591767;17625570;17697703;17760859;17804755;17824900;17827179;17828275;17828277;17927562;17956946;18046453;18086915;18097461;18182008;18215318;18243712;18254226;18283113;18292509;18452278;18452557;18524849;18593892;18594010;18635947;18641641;18664496;18664523;18669648;18701132;18724359;18809720;18923523;18923524;18923525;1898986;19015319;19109418;19136952;19164740;19279216;19296914;19359544;19456272;19459784;19506225;1956401;19564404;1957170;19631211;19635840;19690332;19691289;19753100;19758564;19935774;20006655;20038533;20068231;20072699;20112406;20357002;20420828;20427317;20454865;20637885;20679239;20682791;20719959;20978158;21116285;21134980;21158691;21164297;21173190;21183720;21213368;2121367;21219331;21282569;21376746;21415216;21441454;21494621;21596819;21656749;21689688;21700222;21796517;21838707;21844168;21847362;2190094;22011577;22013193;22094269;22130221;22159412;22249260;22261744;22266222;22304919;22318716;22327364;22327622;22347464;22424782;22433123;22544926;22562055;22570254;22658521;22777741;22791416;22797915;23104988;23139213;23201355;23239810;23333653;23386061;23481700;23509069;23661334;23783758;23839779;23874158;2391366;23957430;23985322;24012426;24060861;24119662;24366607;24445538;24475247;24496003;24518094;24613930;24627108;24676999;24694367;24714562;24715725;24736082;24806965;24867236;24881494;24891604;25185702;25189619;25233431;25342631;25393796;25418920;25421750;25436559;25453831;25492864;25576301;25645385;25774020;25810538;25813404;25921060;26001147;26062823;26073023;26154972;26203193;26301689;26313416;26375851;26728094;26811146;26968983;26972003;26992070;27245569;27462449;27573755;27600516;27663436;27846572;27862975;27874193;27920218;28063628;28083797;28228285;28301631;28394342;28404650;28510447;28514659;28657654;28659337;28741662;28755533;28832583;28834231;28904123;28919297;29242379;29393594;29455642;29493099;29557506;29632046;29632711;29786170;29789417;29873274;30131584;30197098;30315122;30524438;30692217;30833945;31110491;31141847;31154438;31217245;31366041;31530632;31731497;31826031;31844290;31848261;31937595;31998317;32016915;32119511;32157095;32161166;32320027;32350084;32357974;32387766;32448030;32488085;32502341;32544881;32897882;32938616;32982970;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34561969;34725712;35051231;35154160;35314674;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38665916;40596516;40914422;6645495;6891012;7481823;7590364;7592972;7650016;7667286;7691276;7824924;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8157723;8221884;8253837;8282004;8313912;8397411;8415765;8505331;8560673;8620540;8633037;8636227;8642258;8666242;8687433;8838327;8849454;8856662;8909537;8939989;8947036;8991093;9030515;9037597;9050864;9075930;9114004;9150144;9177194;9202021;9244307;9288971;9311912;9312039;9323141;9380700;9382863;9405360;9450183;9464360;9464361;9473480;9490716;9497313;9539769;9545226;9606180;9667968;9671725;9671731;9733780;9751720;9799602;9805007;9819383;9990005", "class_list": "", "function": "Genomic organization of the DCTN1-SLC4A5 locus encoding both NBC4 and p150(Glued)., [RefSeq, PubMed]; Neither APC nor p150glued binding domain is necessary for EB1 or EBF3 to induce microtubule bundling, [RefSeq, PubMed]; Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules (By similarity). Plays a key role in dynein-mediated retrograde transport of vesicles and organelles along microtubules by recruiting and tethering dynein to microtubules. Binds to both dynein and microtubules providing a link between specific cargos, microtubules and dynein. Essential for targeting dynein to microtubule plus ends, recruiting dynein to membranous cargos and enhancing dynein processivity (the ability to move along a microtubule for a long distance without falling off the track). Can also act as a brake to slow the dynein motor during motility along the microtubule (PubMed:25185702). Can regulate microtubule stability by promoting microtubule formation, nucleation and polymerization and by inhibiting microtubule catastrophe in neurons. Inhibits microtubule catastrophe by binding both to microtubules and to tubulin, leading to enhanced microtubule stability along the axon (PubMed:23874158). Plays a role in metaphase spindle orientation (PubMed:22327364). Plays a role in centriole cohesion and subdistal appendage organization and function. Its recruitment to the centriole in a KIF3A-dependent manner is essential for the maintenance of centriole cohesion and the formation of subdistal appendage. Also required for microtubule anchoring at the mother centriole (PubMed:23386061). Plays a role in primary cilia formation (PubMed:25774020)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin 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 interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 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": 9, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8MY36;B4DM45;E9PFS5;E9PGE1;G5E9H4;O95296;Q6IQ37;Q9BRM9;Q9UIU1;Q9UIU2", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0019901 protein kinase binding;GO:0048156 tau protein binding;GO:0015631 tubulin binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005819 spindle", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0007077 mitotic nuclear membrane disassembly;GO:0007399 nervous system development;GO:0007528 neuromuscular junction development;GO:0050905 neuromuscular process", "synthesized_glycan_count": 0, "hit_score": 50.9, "record_id": "Q14203-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86SQ4-1", "uniprot_id": [ { "id": "AGRG6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86SQ4", "type": "external" } ], "mass": 136695.0, "length": 1221, "protein_name": "Adhesion G protein-coupled receptor G6", "gene_name": "ADGRG6", "organism": "Human", "refseq_name": "adhesion G-protein coupled receptor G6 isoform alpha 2 precursor", "refseq_ac": [ { "id": "NP_001027566", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027566", "type": "external" } ], "gene_names_uniprotkb": "ADGRG6; DREG; GPR126; VIGR", "gene_names_refseq": "ADGRG6; APG1; DREG; GPR126; LCCS9; PR126; PS1TP2; STQTL1; VIGR", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor G6; ADGRG6 C-terminal fragment; ADGRG6 N-terminal fragment; ADGRG6-CTF; ADGRG6-NTF; Developmentally regulated G protein-coupled receptor; G protein-coupled receptor 126; Vascular inducible G protein-coupled receptor", "protein_names_refseq": "G-protein coupled receptor 126; HBV PreS1-transactivated protein 2; adhesion G-protein coupled receptor G6 isoform alpha 2 precursor; developmentally regulated G-protein-coupled receptor; vascular-inducible G protein-coupled receptor", "tax_id": 9606, "disease": "idiopathic scoliosis (Disease Ontology:DOID:0060250); lethal congenital contracture syndrome (Disease Ontology:DOID:0060558); lethal congenital contracture syndrome 9 (Disease Ontology:DOID:0061265)", "pathway": " (hsa:57211); (R-HSA-9619665)", "pathway_count": 2, "publication_count": 136, "publication_id_list": "10.1101/2023.09.13.557529;10203854;10220111;10400691;10727776;10757804;10856243;11115854;11133365;11157804;11237011;11356866;11394999;11430795;11430802;11734543;11782409;12056842;12145339;12198163;12565841;12782656;12799134;14512514;14522948;14664827;15084671;15150276;15189448;15225624;15356632;15610069;15695336;15836632;15907797;16136673;16311519;16319321;16335952;16373334;16923174;1704008;17325040;17699610;17959798;18391950;18634568;18669648;18803322;19143832;19156870;19321787;19745155;1975954;19922439;20149798;20213556;20625412;20832498;21044070;21326363;21411665;21423190;21423191;21613327;21653862;22053691;22180461;22333914;22492709;22764250;22814607;23090970;23695165;23747866;23874858;24190977;24191038;24227709;24646194;24675079;25533341;25974668;26004201;26423937;26441514;27220739;27288457;27509131;27859941;28121444;28852375;29391424;29557506;29741879;29748249;30779550;30833945;31154438;31217245;31924782;32157095;32161166;32350084;32488085;33592498;33968037;34171305;35051231;35154160;35394864;35580925;36010968;36215666;36241641;37074911;37154297;37270806;37566066;37734371;38786096;39884271;7925941;7935840;8138712;8349731;8619637;8627307;8647822;8662541;8842374;9418958;9482253;9705348;9748295;9858769", "class_list": "", "function": "Adhesion G Protein-Coupled Receptor Gpr126 (Adgrg6) Expression Profiling in Diseased Mouse, Rat, and Human Kidneys. Publication Status: Online-Only, [RefSeq, PubMed]; Adhesion G protein-coupled receptor (aGPCR) for steroid hormones, such as progesterone and 17alpha-hydroxyprogesterone (17OHP) (PubMed:35394864, PubMed:39884271). Involved in many biological processes, such as myelination, sprouting angiogenesis, placenta, ear and cartilage development (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 (PubMed:24227709, PubMed:35394864). ADGRG6 is coupled to G(i) G alpha proteins and mediates inhibition of adenylate cyclase (PubMed:24227709, PubMed:35394864). Also able to couple to G(q) G proteins (PubMed:24227709). Involved in myelination of the peripheral nervous system: required for differentiation of promyelinating Schwann cells and for normal myelination of axons (PubMed:24227709). Also acts as a regulator of body length and bone mass (PubMed:18391950). Acts as a regulator of blood-brain barrier formation in the central nervous system vie its association with LRP1 and ITGB1 (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Adhesion GPCR Gpr126 (Adgrg6) Expression Profiling in Zebrafish, Mouse, and Human Kidney. Publication Status: Online-Only, [RefSeq, PubMed]; Analysis of GPR126 polymorphisms and their relationship with scoliosis in Marfan syndrome and Marfan-like syndrome in Mexican patients. Publication Status: Online-Only, [RefSeq, PubMed]; Noncoding SNP at rs1663689 represses ADGRG6 via interchromosomal interaction and reduces lung cancer progression., [RefSeq, PubMed]; The COPD GWAS gene ADGRG6 instructs function and injury response in human iPSC-derived type II alveolar epithelial cells., [RefSeq, PubMed]; This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person's stature. Multiple transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Mar 2009]., [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": 13, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 12, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 14, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 14, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 25, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 8551, "biomarker_type": "", "glycan_count": 37, "disease_count": 3, "glyco_site_count": 26, "binding_glycan_count": 0, "secondary_ac_list": "Q5TGN7;Q6DHZ4;Q6F3F5;Q6F3F6;Q6F3F7;Q6F3F8;Q6MZU7;Q8IXA4;Q8NC14;Q96JW0", "ec_number_list": [], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004930 G protein-coupled receptor activity;GO:0046872 metal ion binding;GO:0005518 collagen binding;GO:0043236 laminin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0060856 establishment of blood-brain barrier;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:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 18.8, "record_id": "Q86SQ4-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75618-1", "uniprot_id": [ { "id": "DEDD_HUMAN", "url": "https://www.uniprot.org/uniprot/O75618", "type": "external" } ], "mass": 36794.0, "length": 318, "protein_name": "Death effector domain-containing protein", "gene_name": "DEDD", "organism": "Human", "refseq_name": "death effector domain-containing protein isoform b", "refseq_ac": [ { "id": "NP_001034800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034800", "type": "external" } ], "gene_names_uniprotkb": "DEDD; DEDPRO1; DEFT; KE05", "gene_names_refseq": "CASP8IP1; DEDD1; DEDD; DEDPro1; DEFT; FLDED-1; FLDED1; KE05", "protein_names_uniprotkb": "Death effector domain-containing protein; DEDPro1; Death effector domain-containing testicular molecule; FLDED-1", "protein_names_refseq": "death effector domain-containing protein isoform b; death effector domain-containing protein; death effector domain-containing testicular molecule", "tax_id": 9606, "disease": "pterygium (Disease Ontology:DOID:0002116); Stevens-Johnson syndrome (Disease Ontology:DOID:0050426); inflammatory bowel disease (Disease Ontology:DOID:0050589); diffuse large B-cell lymphoma (Disease Ontology:DOID:0050745); colorectal adenoma (Disease Ontology:DOID:0050860); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); medulloblastoma (Disease Ontology:DOID:0050902); myelodysplastic syndrome (Disease Ontology:DOID:0050908); stroke (Disease Ontology:DOID:0051061); autism spectrum disorder (Disease Ontology:DOID:0060041); pre-malignant neoplasm (Disease Ontology:DOID:0060071); drug allergy (Disease Ontology:DOID:0060500); alcohol-associated liver disease (Disease Ontology:DOID:0070658); hepatic veno-occlusive disease (Disease Ontology:DOID:0080177); colorectal carcinoma (Disease Ontology:DOID:0080199); erythema nodosum (Disease Ontology:DOID:0080750); graft-versus-host disease (Disease Ontology:DOID:0081267); osteonecrosis (Disease Ontology:DOID:10159); thalassemia (Disease Ontology:DOID:10241); prostate cancer (Disease Ontology:DOID:10283); asbestosis (Disease Ontology:DOID:10320); lymphoid leukemia (Disease Ontology:DOID:1037); esophageal atresia (Disease Ontology:DOID:10485); Hirschsprung's disease (Disease Ontology:DOID:10487); stomach cancer (Disease Ontology:DOID:10534); 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); urinary bladder cancer (Disease Ontology:DOID:11054); asphyxia neonatorum (Disease Ontology:DOID:11088); Human papillomavirus infectious disease (Disease Ontology:DOID:11166); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); head and neck cancer (Disease Ontology:DOID:11934); allergic disease (Disease Ontology:DOID:1205); optic neuritis (Disease Ontology:DOID:1210); aplastic anemia (Disease Ontology:DOID:12449); autistic disorder (Disease Ontology:DOID:12849); lung cancer (Disease Ontology:DOID:1324); angle-closure glaucoma (Disease Ontology:DOID:13550); cholestasis (Disease Ontology:DOID:13580); 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); urticaria (Disease Ontology:DOID:1555); acute chest syndrome (Disease Ontology:DOID:1584); keratosis (Disease Ontology:DOID:161); breast cancer (Disease Ontology:DOID:1612); congenital heart disease (Disease Ontology:DOID:1682); malignant mesothelioma (Disease Ontology:DOID:1790); ovary epithelial cancer (Disease Ontology:DOID:2152); multiple sclerosis (Disease Ontology:DOID:2377); larynx cancer (Disease Ontology:DOID:2596); transitional cell carcinoma (Disease Ontology:DOID:2671); asthma (Disease Ontology:DOID:2841); cervix carcinoma (Disease Ontology:DOID:2893); pulmonary tuberculosis (Disease Ontology:DOID:2957); adenocarcinoma (Disease Ontology:DOID:299); malignant astrocytoma (Disease Ontology:DOID:3069); high grade glioma (Disease Ontology:DOID:3070); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); gallbladder cancer (Disease Ontology:DOID:3121); porphyria cutanea tarda (Disease Ontology:DOID:3132); atopic dermatitis (Disease Ontology:DOID:3310); coronary artery disease (Disease Ontology:DOID:3393); toxic encephalopathy (Disease Ontology:DOID:3602); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); Lynch syndrome (Disease Ontology:DOID:3883); gastritis (Disease Ontology:DOID:4029); systemic scleroderma (Disease Ontology:DOID:418); cervical cancer (Disease Ontology:DOID:4362); macular degeneration (Disease Ontology:DOID:4448); renal cell carcinoma (Disease Ontology:DOID:4450); movement disease (Disease Ontology:DOID:480); small intestine adenocarcinoma (Disease Ontology:DOID:4906); esophagus adenocarcinoma (Disease Ontology:DOID:4914); cholangiocarcinoma (Disease Ontology:DOID:4947); esophageal cancer (Disease Ontology:DOID:5041); liver cirrhosis (Disease Ontology:DOID:5082); schizophrenia (Disease Ontology:DOID:5419); oral submucous fibrosis (Disease Ontology:DOID:5773); leukopenia (Disease Ontology:DOID:615); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); end stage renal disease (Disease Ontology:DOID:783); periodontitis (Disease Ontology:DOID:824); 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); polycythemia vera (Disease Ontology:DOID:8997); systemic lupus erythematosus (Disease Ontology:DOID:9074); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261); 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); pulmonary emphysema (Disease Ontology:DOID:9675); type 1 diabetes mellitus (Disease Ontology:DOID:9744); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:9191)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "11237011;11965497;12235123;12527898;20070122;22719072;24366607;24397554;25576301;25880248;26154972;26375851;26811146;26992070;27600516;27846572;27862975;27920218;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29953965;30315122;30429286;30777879;30779550;30833945;31154438;31222486;31530632;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33298915;33592498;33968037;33981976;34932366;35051231;35561310;35580925;36241641;36284347;9774341;9832420", "class_list": "", "function": "A scaffold protein that directs CASP3 to certain substrates and facilitates their ordered degradation during apoptosis. May also play a role in mediating CASP3 cleavage of KRT18. Regulates degradation of intermediate filaments during apoptosis. May play a role in the general transcription machinery in the nucleus and might be an important regulator of the activity of GTF3C3. Inhibits DNA transcription in vitro (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; DEDD forms nuclear complexes with the TFIIIC102 subunit of human transcription factor IIIC, [RefSeq, PubMed]; FAS-associated death domain (FADD)-DED-induced reactive oxygen species (ROS) generation is triggered by membrane localization of FADD-DED, which shifts the cells into a state that stimulates and fuels ROS and ultimately results in cell death., [RefSeq, PubMed]; Identify MCL1 and DEDD as genes that contribute to aggressive urothelial carcinomas., [RefSeq, PubMed]; MicroRNA-17 inhibition overcomes chemoresistance and suppresses epithelial-mesenchymal transition through a DEDD-dependent mechanism in gastric cancer, [RefSeq, PubMed]; This gene encodes a protein that contains a death effector domain (DED). DED is a protein-protein interaction domain shared by adaptors, regulators and executors of the programmed cell death pathway. Overexpression of this gene was shown to induce weak apoptosis. Upon stimulation, this protein was found to translocate from cytoplasm to nucleus and colocalize with UBTF, a basal factor required for RNA polymerase I transcription, in the nucleolus. At least three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Via direct interaction with the class III PI-3-kinase (PI3KC3)/Beclin1, DEDD activated autophagy and induced the degradation of Snail and Twist, two master regulators of EMT, [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": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 113, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DVF5;O60737", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007283 spermatogenesis;GO:0042981 regulation of apoptotic process;GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors;GO:0003006 developmental process involved in reproduction", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "O75618-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26358-1", "uniprot_id": [ { "id": "DNMT1_HUMAN", "url": "https://www.uniprot.org/uniprot/P26358", "type": "external" } ], "mass": 183165.0, "length": 1616, "protein_name": "DNA (cytosine-5)-methyltransferase 1", "gene_name": "DNMT1", "organism": "Human", "refseq_name": "DNA (cytosine-5)-methyltransferase 1 isoform a", "refseq_ac": [ { "id": "NP_001124295", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124295", "type": "external" } ], "gene_names_uniprotkb": "DNMT1; AIM; CXXC9; DNMT", "gene_names_refseq": "ADCADN; AIM; CXXC9; DNMT1; DNMT; HSN1E; MCMT; m.HsaI", "protein_names_uniprotkb": "DNA (cytosine-5)-methyltransferase 1; 2.1.1.37; CXXC-type zinc finger protein 9; DNA MTase HsaI; DNA methyltransferase HsaI; Dnmt1; M.HsaI; MCMT", "protein_names_refseq": "CXXC-type zinc finger protein 9; DNA (cytosine-5)-methyltransferase 1 isoform a; DNA (cytosine-5-)-methyltransferase 1; DNA MTase HsaI; DNA methyltransferase HsaI", "tax_id": 9606, "disease": "hereditary sensory and autonomic neuropathy (Disease Ontology:DOID:0050548); fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); autosomal dominant cerebellar ataxia, deafness and narcolepsy (Disease Ontology:DOID:0050968); hereditary sensory neuropathy type 1E (Disease Ontology:DOID:0070158); prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); Graves' disease (Disease Ontology:DOID:12361); lung cancer (Disease Ontology:DOID:1324); congenital heart disease (Disease Ontology:DOID:1682); hepatitis C (Disease Ontology:DOID:1883); endometriosis of uterus (Disease Ontology:DOID:288); endometriosis (Disease Ontology:DOID:289); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); lung carcinoma (Disease Ontology:DOID:3905); lung non-small cell carcinoma (Disease Ontology:DOID:3908); mucoepidermoid carcinoma (Disease Ontology:DOID:4531); bronchiolo-alveolar adenocarcinoma (Disease Ontology:DOID:4926); liver cirrhosis (Disease Ontology:DOID:5082); schizophrenia (Disease Ontology:DOID:5419); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); choline deficiency disease (Disease Ontology:DOID:8456); chronic myeloid leukemia (Disease Ontology:DOID:8552); systemic lupus erythematosus (Disease Ontology:DOID:9074); acute myeloid leukemia (Disease Ontology:DOID:9119); type 2 diabetes mellitus (Disease Ontology:DOID:9352); alopecia areata (Disease Ontology:DOID:986)", "pathway": " (hsa:1786); (R-HSA-212300); (R-HSA-427413); (R-HSA-4655427); (R-HSA-5334118); (R-HSA-9701898); (R-HSA-9710421); (R-HSA-9725371)", "pathway_count": 8, "publication_count": 263, "publication_id_list": "10.1101/2023.09.13.557529;10325416;10449766;10471499;10551868;10753866;10888872;10888886;10947852;11169414;11237011;11735126;11751994;11782012;12145218;12351676;12435631;12481029;12748172;14610093;15099518;15105426;15302935;15382068;15653507;15861382;1594447;16009132;16357870;16431907;16829525;17081983;17110082;17111047;17200670;17287340;17355984;17416736;17673620;17687327;17690253;17922009;18024471;18083107;18097461;18220336;18223688;18302924;18346456;18413740;18438403;18452278;18669648;18754681;18762900;18767875;18772889;18945682;18974356;19026781;19088198;19173286;19413330;19415658;19450230;19571010;19608861;19651622;19664994;19664995;19690332;19748539;19834512;19838300;20015877;20068231;20075857;20123894;20230923;20493732;20613874;20630873;20838592;20841325;20937877;20974918;21102525;21151116;21163962;21170310;21378119;21389349;21406692;21489993;21532572;21565170;21706000;21715655;21745816;21777816;21808299;21808300;21947282;21979949;22064703;22299025;22323599;22328086;22348533;22424782;22466170;22544926;22898188;22955283;23022729;23161542;23186163;23301498;23326524;23431328;23481700;23679895;23752590;24004669;24060861;24074865;24366607;24368767;24492612;24623306;24714562;24715725;25115512;25193384;25576301;25772364;25802875;25810538;25818168;25880248;25892735;25916849;26070743;26154972;26553800;26728094;26811146;26815200;26992070;27553022;27600516;27846572;27862975;27879258;27920218;28063628;28218747;28228285;28404884;28510447;28514659;28832583;28834231;28869544;28904123;29053958;29097600;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29588546;29632046;29632711;29691401;29769354;29786170;29789417;30192525;30315122;30410026;30429286;30484775;30524438;30692217;30779550;30833945;30923826;30993897;31086175;31092671;31217245;31222486;31366041;31390744;31434245;31530632;31844290;31848261;31937595;31998317;32051553;32157095;32161166;32188940;32265295;32350084;32357974;32387766;32488085;32502341;32522876;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34211107;34405274;34509645;34561969;34725712;34932366;35051231;35138101;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37217939;37470704;37938771;38665916;39159808;39226277;7597036;8940105;9302295;9930702", "class_list": "", "function": "DNA methyltransferase that methylates CpG residues (PubMed:17200670, PubMed:18754681, PubMed:21745816, PubMed:26070743). Preferentially methylates hemimethylated DNA (PubMed:21745816, PubMed:26070743). Associates with DNA replication sites in S phase maintaining the methylation pattern in the newly synthesized strand, that is essential for epigenetic inheritance (PubMed:17200670, PubMed:21745816). Associates with chromatin during G2 and M phases to maintain DNA methylation independently of replication (PubMed:21745816). It is responsible for maintaining methylation patterns established in development (PubMed:21745816). DNA methylation is coordinated with methylation of histones (PubMed:16357870). Mediates transcriptional repression by direct binding to HDAC2 (PubMed:10888872). In association with DNMT3B and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9 (PubMed:18413740). Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells (PubMed:24623306). Also required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) (PubMed:24623306). Associates at promoter regions of tumor suppressor genes (TSGs) leading to their gene silencing (PubMed:24623306)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; LncRNA FAM83H-AS1 inhibits ferroptosis of endometrial cancer by promoting DNMT1-mediated CDO1 promoter hypermethylation., [RefSeq, PubMed]; Structural insight into the DNMT1 reaction cycle by cryo-electron microscopy. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 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": 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": 26, "reported_mutagensis": 18, "reported_glycation": 0, "reported_snv": 63, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 29, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0AV63;B7ZLW6;Q9UHG5;Q9ULA2;Q9UMZ6", "ec_number_list": [ { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.37", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "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": "2.1.1.356", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.356", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.26.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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0003886 DNA (cytosine-5-)-methyltransferase activity;GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0008327 methyl-CpG binding;GO:0009008 DNA-methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005657 replication fork;GO:0000792 heterochromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression;GO:1904707 positive regulation of vascular associated smooth muscle cell proliferation", "synthesized_glycan_count": 0, "hit_score": 26.8, "record_id": "P26358-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04150-1", "uniprot_id": [ { "id": "GCR_HUMAN", "url": "https://www.uniprot.org/uniprot/P04150", "type": "external" } ], "mass": 85659.0, "length": 777, "protein_name": "Glucocorticoid receptor", "gene_name": "NR3C1", "organism": "Human", "refseq_name": "glucocorticoid receptor isoform alpha", "refseq_ac": [ { "id": "NP_000167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000167", "type": "external" } ], "gene_names_uniprotkb": "NR3C1; GRL", "gene_names_refseq": "GCCR; GCRST; GCR; GRL; GR; NR3C1", "protein_names_uniprotkb": "Glucocorticoid receptor; GR; Nuclear receptor subfamily 3 group C member 1", "protein_names_refseq": "glucocorticoid receptor isoform alpha; nuclear receptor subfamily 3 group C member 1 variant hGR-B(54); nuclear receptor subfamily 3 group C member 1 variant hGR-B(77); nuclear receptor subfamily 3 group C member 1 variant hGR-B(93); nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)", "tax_id": 9606, "disease": "sinusitis (Disease Ontology:DOID:0050127); alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); obstructive sleep apnea (Disease Ontology:DOID:0050848); stroke (Disease Ontology:DOID:0051061); withdrawal disorder (Disease Ontology:DOID:0060001); lupus nephritis (Disease Ontology:DOID:0080162); nephrotic syndrome type 2 (Disease Ontology:DOID:0080379); graft-versus-host disease (Disease Ontology:DOID:0081267); traumatic brain injury (Disease Ontology:DOID:0081292); hypertension (Disease Ontology:DOID:10763); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); lipoid nephrosis (Disease Ontology:DOID:10966); opioid abuse (Disease Ontology:DOID:11206); polycystic ovary syndrome (Disease Ontology:DOID:11612); nephrotic syndrome (Disease Ontology:DOID:1184); primary biliary cholangitis (Disease Ontology:DOID:12236); uveitis (Disease Ontology:DOID:13141); pulmonary sarcoidosis (Disease Ontology:DOID:13406); alcoholic neuropathy (Disease Ontology:DOID:14183); generalized anxiety disorder (Disease Ontology:DOID:14320); major depressive disorder (Disease Ontology:DOID:1470); cognitive disorder (Disease Ontology:DOID:1561); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); status epilepticus (Disease Ontology:DOID:1824); post-traumatic stress disorder (Disease Ontology:DOID:2055); brain ischemia (Disease Ontology:DOID:2316); morphine dependence (Disease Ontology:DOID:2560); asthma (Disease Ontology:DOID:2841); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); mood disorder (Disease Ontology:DOID:3324); coronary artery disease (Disease Ontology:DOID:3393); lung non-small cell carcinoma (Disease Ontology:DOID:3908); renal cell carcinoma (Disease Ontology:DOID:4450); primary hyperaldosteronism (Disease Ontology:DOID:446); congestive heart failure (Disease Ontology:DOID:6000); rheumatoid arthritis (Disease Ontology:DOID:7148); muscular atrophy (Disease Ontology:DOID:767); end stage renal disease (Disease Ontology:DOID:783); cocaine abuse (Disease Ontology:DOID:809); cataract (Disease Ontology:DOID:83); lung disease (Disease Ontology:DOID:850); anorexia nervosa (Disease Ontology:DOID:8689); diabetic retinopathy (Disease Ontology:DOID:8947); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976); glucocorticoid resistance (MONDO:MONDO:0014421)", "pathway": " (hsa:2908); (R-HSA-3371497); (R-HSA-4090294); (R-HSA-8849473); (R-HSA-8939902); (R-HSA-9615017); (R-HSA-9679191); (R-HSA-9768777)", "pathway_count": 8, "publication_count": 391, "publication_id_list": "10078534;10087012;10102273;10215629;10217147;10358014;10391209;10477749;10480625;10566686;10572046;10639135;10747884;10866662;10898924;10902803;10911365;10913147;11121022;11237011;11238589;11344238;11358809;11381138;11435610;11555652;11589254;11589680;11701661;11701741;11751894;11779849;11932321;12000743;12000792;12050230;12077349;12144530;12151000;12177000;12239572;12351458;12351702;12415108;12686538;12738770;12781197;12923053;13486053;14500761;1493716;15159550;15192080;15192092;15211577;15265776;15276593;15292341;15381148;15591061;15591535;15703179;15769988;15817653;15866175;15923626;15941832;15961505;16030164;16115318;16115867;16403413;16421188;16478993;16522641;16728642;16783365;16840535;16912044;16914116;16964243;17020914;1704018;1707881;17105732;17185395;17218271;17314004;17391526;17404046;17440046;17591767;17635946;17662961;17682054;17717077;17786208;17804755;18215318;18243712;18254226;18304804;18337589;18483179;18541707;18635947;18669648;18682536;18691976;18838540;19041634;19101597;19141540;19211567;19248771;19359101;19359544;19413330;1958537;19586900;19651622;19691289;19692572;19729027;19841061;19850744;19864602;19955185;20006655;20038533;20068231;20072699;20078863;20086048;20156337;20159957;2019585;20223979;2026589;20335448;20484466;20561560;20660302;20719936;20843780;21158691;21183720;21267416;21362280;21376746;21467194;21474440;21483429;21536589;21664385;21700222;21701417;21730050;21796517;21829454;21930780;21931630;21980503;22011577;22170608;22205926;22266222;22285804;22318716;22401777;22422618;22433123;22552008;22745689;22791416;22814904;22911818;22930759;23123359;23152905;23186163;23239753;23303127;23355259;23403054;23426617;23508108;23546875;23593222;23641311;23650397;23704983;23783831;23820903;23928995;23943595;24012426;24028821;24030073;24040102;24166279;24272870;24275569;24291004;24291638;24366607;24483153;24535466;24584101;24694367;24795534;25114211;25260729;25355489;25418920;25511704;25576301;25678784;25775514;25801024;25847991;25880248;25892735;26002965;26031419;26052031;26073023;26091038;26154972;26203193;26313416;26541474;26711253;26778333;26811146;26825173;26992070;26993765;27120390;27220430;27353360;27462449;27547294;27579615;27600516;27663436;27717743;27846572;27862975;27920218;28083797;28139699;28179212;28228285;28301631;28425720;28514659;28582465;28657654;2867473;28751734;28755533;28808239;28827617;28832583;28904123;28919297;29127155;29133811;29163463;29237092;29242379;29351928;29393594;29493099;29508533;29557506;29632711;29786170;29876006;29945920;30059200;30197098;30201761;30315122;30379171;30414425;30429286;30484775;30524438;30573663;30620550;30698747;30833945;31020640;31048504;31110491;31141847;31154438;31217245;31354714;31373491;31492838;31731497;31826031;31844290;31848261;32016915;32157095;32265295;32320027;32357907;32357974;32387766;32394161;32448030;32488085;32502341;32544881;32574038;32871225;32897882;32938616;32938750;32982970;32983136;33091337;33141586;33214551;33235235;33298915;33592498;33717175;33744286;33912179;33968037;34019948;34087483;34171305;34357683;34405274;34509645;34846842;34932366;35051231;35132862;35254053;35289036;35318648;35513511;35580925;35705054;36010968;36241641;36284347;37340703;37478846;37938771;3841189;38551091;38665916;38676353;38838015;38924829;39302247;39531497;40307207;40596516;41052879;6645495;6891012;7683692;7769088;7873448;8157723;8282004;8316249;8358712;8358735;8445027;8560673;8621628;9038175;9150737;9154805;9199329;9353307;9464360;9464361;9590696;9667968", "class_list": "", "function": "Acts as a dominant negative inhibitor of isoform Alpha (PubMed:20484466, PubMed:7769088, PubMed:8621628). Has intrinsic transcriptional activity independent of isoform Alpha when both isoforms are coexpressed (PubMed:19248771, PubMed:26711253). Loses this transcription modulator function on its own (PubMed:20484466). Has no hormone-binding activity (PubMed:8621628). May play a role in controlling glucose metabolism by maintaining insulin sensitivity (By similarity). Reduces hepatic gluconeogenesis through down-regulation of PEPCK in an isoform Alpha-dependent manner (PubMed:26711253). Directly regulates STAT1 expression in isoform Alpha-independent manner (PubMed:26711253)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Differential impact of prenatal PTSD symptoms and preconception trauma exposure on placental NR3C1 and FKBP5 methylation., [RefSeq, PubMed]; Has highest transcriptional activation activity of all isoforms created by alternative initiation (PubMed:15866175, PubMed:23820903). Has transcriptional repression activity (PubMed:23303127). Mediates glucocorticoid-induced apoptosis (PubMed:23303127, PubMed:23820903)., [UniProtKB, PubMed, PubMed, PubMed]; Has lower transcriptional activation activity than isoform Alpha. Exerts a dominant negative effect on isoform Alpha trans-repression mechanism (PubMed:20484466)., [UniProtKB]; Has lowest transcriptional activation activity of all isoforms created by alternative initiation (PubMed:15866175, PubMed:23820903). Has transcriptional repression activity (PubMed:23303127)., [UniProtKB, PubMed, PubMed, PubMed]; Has transcriptional activation activity., [UniProtKB, PubMed, PubMed]; Has transcriptional activation and repression activity (PubMed:11435610, PubMed:15769988, PubMed:15866175, PubMed:17635946, PubMed:19141540, PubMed:19248771, PubMed:20484466, PubMed:21664385, PubMed:23820903). Mediates glucocorticoid-induced apoptosis (PubMed:23303127). Promotes accurate chromosome segregation during mitosis (PubMed:25847991). May act as a tumor suppressor (PubMed:25847991). May play a negative role in adipogenesis through the regulation of lipolytic and antilipogenic gene expression (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Increases activity of isoform Alpha., [UniProtKB, PubMed]; Maternal perceived stress and green spaces during pregnancy are associated with adult offspring gene (NR3C1 and IGF2/H19) methylation patterns in adulthood: A pilot study., [RefSeq, PubMed]; More effective than isoform Alpha in transcriptional activation, but not repression activity., [UniProtKB, PubMed, PubMed]; Receptor for glucocorticoids (GC) (PubMed:27120390, PubMed:37478846). Has a dual mode of action: as a transcription factor that binds to glucocorticoid response elements (GRE), both for nuclear and mitochondrial DNA, and as a modulator of other transcription factors (PubMed:28139699). Affects inflammatory responses, cellular proliferation and differentiation in target tissues. Involved in chromatin remodeling (PubMed:9590696). Plays a role in rapid mRNA degradation by binding to the 5' UTR of target mRNAs and interacting with PNRC2 in a ligand-dependent manner which recruits the RNA helicase UPF1 and the mRNA-decapping enzyme DCP1A, leading to RNA decay (PubMed:25775514). Could act as a coactivator for STAT5-dependent transcription upon growth hormone (GH) stimulation and could reveal an essential role of hepatic GR in the control of body growth (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Results suggest that cell-type specific glucocorticoid receptor isoforms generate specificity in glucocorticoid control of transcription in different tissues., [RefSeq, PubMed]; Results suggest that translational glucocorticoid receptor isoforms can elicit distinct glucocorticoid responses., [RefSeq, PubMed]; The Glucocorticoid Receptor: Isoforms, Functions, and Contribution to Glucocorticoid Sensitivity. Review article, [RefSeq, PubMed]; This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [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": 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": 31, "reported_mutagensis": 37, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 51, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A0ZXF9;B0LPG8;D3DQF4;F5ATB7;P04151;Q53EP5;Q6N0A4", "ec_number_list": [], "go_molecular_function": "GO:0004883 nuclear glucocorticoid receptor activity;GO:0034056 estrogen response element binding;GO:0003700 DNA-binding transcription factor activity;GO:0003723 RNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0048708 astrocyte differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007059 chromosome segregation", "synthesized_glycan_count": 0, "hit_score": 40.3, "record_id": "P04150-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00505-1", "uniprot_id": [ { "id": "IMA4_HUMAN", "url": "https://www.uniprot.org/uniprot/O00505", "type": "external" } ], "mass": 57811.0, "length": 521, "protein_name": "Importin subunit alpha-4", "gene_name": "KPNA3", "organism": "Human", "refseq_name": "importin subunit alpha-4", "refseq_ac": [ { "id": "NP_002258", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002258", "type": "external" } ], "gene_names_uniprotkb": "KPNA3; QIP2", "gene_names_refseq": "IPOA4; KPNA3; SPG88; SRP1gamma; SRP1; SRP4; hSRP1", "protein_names_uniprotkb": "Importin subunit alpha-4; Importin alpha Q2; Karyopherin subunit alpha-3; Qip2; SRP1-gamma", "protein_names_refseq": "SRP1-gamma; importin alpha 4; importin alpha Q2; importin alpha-3; importin subunit alpha-3; importin subunit alpha-4; karyopherin alpha 3 (importin alpha 4); qip2", "tax_id": 9606, "disease": "hereditary spastic paraplegia 88 (Disease Ontology:DOID:0070457)", "pathway": " (hsa:3839); (R-HSA-1169408); (R-HSA-168276); (R-HSA-9918432)", "pathway_count": 4, "publication_count": 158, "publication_id_list": "10205180;10228156;10846107;11095724;11112487;11157743;11237011;11466336;11788588;12525615;12582176;12740372;15131269;15485925;15702989;16009940;16112642;16122702;16139798;16352599;16407192;16428300;16699525;16715065;16775314;16815975;16872604;16914094;17081983;17289916;17322306;17376915;18212344;18287095;18305167;18318008;18452278;18491316;18583345;18669648;19073728;19125153;19270716;19413330;19415658;19651622;19664994;19664995;19690332;20058876;20068231;20133869;20219937;20308324;20385878;20554775;21406692;22121020;23186163;23301498;23481700;24275569;24366607;24715725;25418920;25576301;25645385;25880248;26208004;26375851;26382858;26929215;26992070;27383988;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28228593;28467828;28832583;28834231;28860189;28904123;29242379;29393594;29485866;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30355688;30484775;30524438;30573663;31154438;31222486;31530632;31844290;31848261;31998317;32157095;32265295;32357974;32387766;32488085;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34509645;34564892;34725712;34825409;34932366;34981581;35051231;35154160;35215835;35561310;35580925;36215666;36241641;36284347;36593106;37356722;37575080;38665916;38793607;40914422;7559393;8313914;9154134;9395085;9435235;9525617;9651582", "class_list": "", "function": "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. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS. Recognizes NLSs of influenza A virus nucleoprotein probably through ARM repeats 7-9., [UniProtKB]; KPNA3 promotes epithelial-mesenchymal transition by regulating TGF-beta and AKT signaling pathways in MDA-MB-231, a triple-negative breast cancer cell line., [RefSeq, PubMed]; SIRT1 promotes the progression and chemoresistance of colorectal cancer through the p53/miR-101/KPNA3 axis., [RefSeq, PubMed]; The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. [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": 5, "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": "O00191;O43195;Q5JVM9;Q8IYQ9;Q96AA7", "ec_number_list": [], "go_molecular_function": "GO:0008139 nuclear localization sequence binding;GO:0061608 nuclear import signal receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0043657 host cell", "go_biological_process": "GO:0075732 viral penetration into host nucleus;GO:0046718 symbiont entry into host cell;GO:0006607 NLS-bearing protein import into nucleus;GO:0065003 protein-containing complex assembly;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 16.1, "record_id": "O00505-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14643-1", "uniprot_id": [ { "id": "ITPR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14643", "type": "external" } ], "mass": 313929.0, "length": 2758, "protein_name": "Inositol 1,4,5-trisphosphate-gated calcium channel ITPR1", "gene_name": "ITPR1", "organism": "Human", "refseq_name": "inositol 1,4,5-trisphosphate-gated calcium channel ITPR1 isoform 1", "refseq_ac": [ { "id": "NP_001093422", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093422", "type": "external" } ], "gene_names_uniprotkb": "ITPR1; INSP3R1", "gene_names_refseq": "ACV; CLA4; INSP3R1; IP3R1; IP3R; ITPR1; PPP1R94; SCA15; SCA16; SCA29", "protein_names_uniprotkb": "Inositol 1,4,5-trisphosphate-gated calcium channel ITPR1; IP3 receptor isoform 1; IP3R 1; Inositol 1,4,5 trisphosphate receptor; Inositol 1,4,5-trisphosphate receptor type 1; InsP3R1; Type 1 InsP3 receptor; Type 1 inositol 1,4,5-trisphosphate receptor", "protein_names_refseq": "IP3 receptor; IP3R 1; inositol 1,4,5 trisphosphate receptor; inositol 1,4,5-triphosphate receptor, type 1; inositol 1,4,5-trisphosphate-gated calcium channel ITPR1 isoform 1; inositol 1,4,5-trisphosphate-gated calcium channel ITPR1; protein phosphatase 1, regulatory subunit 94; type 1 InsP3 receptor; type 1 inositol 1,4,5-trisphosphate receptor", "tax_id": 9606, "disease": "spinocerebellar ataxia 15 (Disease Ontology:DOID:0050965); spinocerebellar ataxia 29 (Disease Ontology:DOID:0050978); cardiac arrest (Disease Ontology:DOID:0060319); Gillespie syndrome (Disease Ontology:DOID:0111578); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); gestational diabetes (Disease Ontology:DOID:11714); Huntington's disease (Disease Ontology:DOID:12858); dilated cardiomyopathy (Disease Ontology:DOID:12930); autosomal dominant cerebellar ataxia (Disease Ontology:DOID:1441); congenital heart disease (Disease Ontology:DOID:1682); transient cerebral ischemia (Disease Ontology:DOID:224); asthma (Disease Ontology:DOID:2841); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:3708); (R-HSA-111996); (R-HSA-112043); (R-HSA-114508); (R-HSA-139853); (R-HSA-1489509); (R-HSA-2029485); (R-HSA-2871809); (R-HSA-381676); (R-HSA-4086398); (R-HSA-418457); (R-HSA-422356); (R-HSA-5218921); (R-HSA-5578775); (R-HSA-5607763); (R-HSA-9664323); (R-HSA-983695)", "pathway_count": 17, "publication_count": 477, "publication_id_list": 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"class_list": "", "function": "IP3R1 dysregulation via mir-200c-3p/SSFA2 axis contributes to taxol resistance in head and neck cancer., [RefSeq, PubMed]; Identification of ITPR1 gene as a novel target for hsa-miR-34b-5p in non-obstructive azoospermia: a Ca[2+]/apoptosis pathway cross-talk. Erratum:[Sci Rep. 2024 Feb 14;14(1):3722. doi: 10.1038/s41598-024-53786-7. PMID: 38355618] Publication Status: Online-Only, [RefSeq, PubMed]; Inositol 1,4,5-trisphosphate-gated calcium channel that upon inositol 1,4,5-trisphosphate binding transports calcium from the endoplasmic reticulum lumen to cytoplasm. Exists in two states; a long-lived closed state where the channel is essentially 'parked' with only very rare visits to an open state and that ligands facilitate the transition from the 'parked' state into a 'drive' mode represented by periods of bursting activity., [UniProtKB, UniProtKB, UniProtKB]; Inositol 1,4,5-trisphosphate-gated calcium channel that, upon inositol 1,4,5-trisphosphate binding, mediates calcium release from the endoplasmic reticulum (ER) (PubMed:10620513, PubMed:27108797). Undergoes conformational changes upon ligand binding, suggesting structural flexibility that allows the channel to switch from a closed state, capable of interacting with its ligands such as 1,4,5-trisphosphate and calcium, to an open state, capable of transferring calcium ions across the ER membrane (By similarity). Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CAMK2 complex (By similarity). Involved in the regulation of epithelial secretion of electrolytes and fluid through the interaction with AHCYL1 (By similarity). Part of a complex composed of HSPA9, ITPR1 and VDAC1 that regulates mitochondrial calcium-dependent apoptosis by facilitating calcium transport from the ER lumen to the mitochondria intermembrane space thus providing calcium for the downstream calcium channel MCU that directly releases it into mitochondria matrix (By similarity). Regulates fertilization and egg activation by tuning the frequency and amplitude of calcium oscillations (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; KRAP regulates mitochondrial Ca2+ uptake by licensing IP3 receptor activity and stabilizing ER-mitochondrial junctions., [RefSeq, PubMed]; NF2 regulates IP3R-mediated Ca[2+] signal and apoptosis in meningiomas., [RefSeq, PubMed]; Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 69, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 14, "disease_count": 14, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "E7EPX7;E9PDE9;Q14660;Q99897", "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:0070679 inositol 1,4,5 trisphosphate binding;GO:0005220 inositol 1,4,5-trisphosphate-gated calcium channel activity;GO:0005524 ATP binding;GO:0019904 protein domain specific binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0031094 platelet dense tubular network;GO:0005730 nucleolus;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0014069 postsynaptic density", "go_biological_process": "GO:0050849 negative regulation of calcium-mediated signaling;GO:0042045 epithelial fluid transport;GO:0007165 signal transduction;GO:0007207 phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway;GO:0010506 regulation of autophagy", "synthesized_glycan_count": 0, "hit_score": 50.0, "record_id": "Q14643-1", "record_type": "protein", "filter_code": "0000000.1100111.001000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYQ0-1", "uniprot_id": [ { "id": "KRA98_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYQ0", "type": "external" } ], "mass": 16723.0, "length": 159, "protein_name": "Keratin-associated protein 9-8", "gene_name": "KRTAP9-8", "organism": "Human", "refseq_name": "keratin-associated protein 9-8", "refseq_ac": [ { "id": "NP_114169", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114169", "type": "external" } ], "gene_names_uniprotkb": "KRTAP9-8; KAP9.8; KRTAP9.8", "gene_names_refseq": "KAP9.8; KRTAP9-8; KRTAP9.8", "protein_names_uniprotkb": "Keratin-associated protein 9-8; Keratin-associated protein 9.8; Ultrahigh sulfur keratin-associated protein 9.8", "protein_names_refseq": "keratin-associated protein 9-8; ultrahigh sulfur keratin-associated protein 9.8", "tax_id": 9606, "disease": "", "pathway": " (hsa:83901); (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 ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 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": 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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005882 intermediate filament;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9BYQ0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRM7-1", "uniprot_id": [ { "id": "LATS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRM7", "type": "external" } ], "mass": 120136.0, "length": 1088, "protein_name": "Serine/threonine-protein kinase LATS2", "gene_name": "LATS2", "organism": "Human", "refseq_name": "serine/threonine-protein kinase LATS2", "refseq_ac": [ { "id": "NP_055387", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055387", "type": "external" } ], "gene_names_uniprotkb": "LATS2; KPM", "gene_names_refseq": "KPM; LATS2", "protein_names_uniprotkb": "Serine/threonine-protein kinase LATS2; 2.7.11.1; Kinase phosphorylated during mitosis protein; Large tumor suppressor homolog 2; Serine/threonine-protein kinase kpm; Warts-like kinase", "protein_names_refseq": "LATS (large tumor suppressor, Drosophila) homolog 2; LATS, large tumor suppressor, homolog 2; kinase phosphorylated during mitosis protein; large tumor suppressor homolog 2; serine/threonine kinase KPM; serine/threonine-protein kinase LATS2; serine/threonine-protein kinase kpm; warts-like kinase", "tax_id": 9606, "disease": "benign neoplasm (Disease Ontology:DOID:0060072); neurodegenerative disease (Disease Ontology:DOID:1289); cancer (Disease Ontology:DOID:162); kidney cancer (Disease Ontology:DOID:263); carcinoma (Disease Ontology:DOID:305); peripheral nerve sheath neoplasm (Disease Ontology:DOID:3193); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:26524); (R-HSA-2028269)", "pathway_count": 2, "publication_count": 90, "publication_id_list": "10673337;10871863;11118213;11278283;12853976;15109305;15131260;15147269;15688006;16413547;16930133;17085597;17344846;17974916;18158288;18227151;18328708;18669648;19739119;20303269;20412773;20850437;20868367;21118956;21187284;21205866;21224387;21233212;21555462;21808241;21822051;21832154;21952048;22904328;23186163;23431053;23886938;24682284;25505266;25576301;25645385;26437443;26598551;26732741;26898830;26992070;27600516;27846572;27869121;28834231;29242379;29351928;29393594;29557506;29632046;29786170;30154411;30315122;30379171;30429286;30833945;31154438;31217245;31669263;31844290;31848261;32157095;32161166;32357974;32488085;32513743;32845958;32938616;32983136;33592498;33968037;33981976;34171305;34404733;35051231;35580925;36010968;36284347;36990459;37207933;38568805;38652219;39173637;8702870;9545236", "class_list": "", "function": "A LATS2 and ALKBH5 positive feedback loop supports their oncogenic roles., [RefSeq, PubMed]; LATS2 may play a role in androgen receptor-mediated transcription and contribute to the development of prostate cancer, [RefSeq, PubMed]; MELK aggravates lung adenocarcinoma by regulating EZH2 ubiquitination and H3K27me3 histone methylation of LATS2., [RefSeq, PubMed]; Mir-629 Repressed LATS2 Expression and Promoted the Proliferation of Prostate Cancer Cells., [RefSeq, PubMed]; Negative regulator of YAP1 in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis (PubMed:18158288, PubMed:26437443, PubMed:26598551, PubMed:34404733). The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ (PubMed:26437443, PubMed:26598551, PubMed:34404733). Phosphorylation of YAP1 by LATS2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration (PubMed:26598551, PubMed:34404733). Also phosphorylates YAP1 in response to cell contact inhibition-driven WWP1 ubiquitination of AMOTL2, which results in LATS2 activation (PubMed:34404733). Acts as a tumor suppressor which plays a critical role in centrosome duplication, maintenance of mitotic fidelity and genomic stability (PubMed:10871863). Negatively regulates G1/S transition by down-regulating cyclin E/CDK2 kinase activity (PubMed:12853976). Negative regulator of the androgen receptor (PubMed:15131260). Phosphorylates SNAI1 in the nucleus leading to its nuclear retention and stabilization, which enhances its epithelial-mesenchymal transition and tumor cell invasion/migration activities (PubMed:21952048). This tumor-promoting activity is independent of its effects upon YAP1 or WWTR1/TAZ (PubMed:21952048). Acts as an activator of the NLRP3 inflammasome by mediating phosphorylation of 'Ser-265' of NLRP3 following NLRP3 palmitoylation, promoting NLRP3 activation by NEK7 (PubMed:39173637)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Of mammalian Lats2 and Lats1 control cell proliferation by negatively regulating different cell cycle check points., [RefSeq, PubMed]; RNF106 aggravates esophageal squamous cell carcinoma progression through LATS2/YAP axis., [RefSeq, PubMed]; This gene encodes a serine/threonine protein kinase belonging to the LATS tumor suppressor family. The protein localizes to centrosomes during interphase, and early and late metaphase. It interacts with the centrosomal proteins aurora-A and ajuba and is required for accumulation of gamma-tubulin and spindle formation at the onset of mitosis. It also interacts with a negative regulator of p53 and may function in a positive feedback loop with p53 that responds to cytoskeleton damage. Additionally, it can function as a co-repressor of androgen-responsive gene expression. [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": 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": 26, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 67, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B1AM47;Q9P2X1", "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:0046872 metal ion binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0017015 regulation of transforming growth factor beta receptor signaling pathway;GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0043065 positive regulation of apoptotic process;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q9NRM7-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10276-1", "uniprot_id": [ { "id": "RARA_HUMAN", "url": "https://www.uniprot.org/uniprot/P10276", "type": "external" } ], "mass": 50771.0, "length": 462, "protein_name": "Retinoic acid receptor alpha", "gene_name": "RARA", "organism": "Human", "refseq_name": "retinoic acid receptor alpha isoform 1", "refseq_ac": [ { "id": "NP_000955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000955", "type": "external" } ], "gene_names_uniprotkb": "RARA; NR1B1", "gene_names_refseq": "NR1B1; RARA; RARalpha; RAR", "protein_names_uniprotkb": "Retinoic acid receptor alpha; Nuclear receptor subfamily 1 group B member 1; RAR-alpha", "protein_names_refseq": "PML-DDX5-RARA fusion protein; PML-DDX5-RARA fusion; RAR-alpha; TTMV/RARA fusion protein; TTMV/RARA fusion; nuclear receptor subfamily 1 group B member 1; nucleophosmin-retinoic acid receptor alpha fusion protein NPM-RAR long form; retinoic acid receptor alpha isoform 1; retinoic acid receptor, alpha polypeptide", "tax_id": 9606, "disease": "acute promyelocytic leukemia (Disease Ontology:DOID:0060318); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); mood disorder (Disease Ontology:DOID:3324)", "pathway": " (hsa:5914); (R-HSA-383280); (R-HSA-4090294); (R-HSA-5362517); (R-HSA-5617472); (R-HSA-9616222); (R-HSA-9839394)", "pathway_count": 7, "publication_count": 188, "publication_id_list": "10233885;10235266;10330422;10337631;10493790;10542397;10567404;10608897;10698945;10777502;10882070;11121022;11237011;11242107;11340171;11369759;11564866;11684017;11812818;11865025;11867521;11909957;11955452;11971969;12039952;12054865;12077349;12144530;12177000;12242300;12691149;12702500;12869508;14500761;14517214;15175151;15192080;15192092;15509776;15657432;15670742;15809060;15866176;15867264;15896744;15923626;15961505;16079151;16179254;16275922;16417524;16549775;16606617;16751179;16751774;16769902;16912044;17020914;17063141;17105732;17185360;17218271;17314004;17428788;17431504;17455211;17562868;1756725;17660710;17713478;17717077;17761849;17851529;18299279;18542081;18776924;18781158;19041634;19078967;19115252;19144697;19211567;19232136;19377461;19398580;19692572;19747919;1975088;19782034;19850744;19854132;19864602;19955185;20042001;20078863;20085832;20159957;20215566;20543827;20661648;20719936;21152046;21467194;21471526;21504868;2175878;21993314;21998312;22135230;22351778;22371011;22474248;22569366;22705304;22871568;22879880;22930759;23001182;23219899;23534758;23546875;23630040;23991366;24174538;24312487;24379003;24584857;24586203;25101834;25114211;25135475;2524830;25418920;25576301;2570724;25784653;25913784;26294332;26463675;26811146;2721961;27846572;27920218;28063628;28167758;2825025;2825036;28832583;28904123;29242379;29393594;29431622;29632046;29632711;30467960;30468856;31217245;31409900;31844290;32157095;32357974;33902658;35051231;35580925;36241641;37222488;37478846;38648485;7488013;7501971;7704533;7831296;7862113;7906964;7908827;8302850;8562957;8674428;8695841;8759021;8846917;9177240;9218805;9230306;9267036;9272954;9482740;9653119", "class_list": "", "function": "PML::RARA and GATA2 proteins interact via DNA templates to induce aberrant self-renewal in mouse and human hematopoietic cells., [RefSeq, PubMed]; Receptor for retinoic acid (PubMed:16417524, PubMed:19850744, PubMed:20215566, PubMed:21152046, PubMed:37478846). Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes (PubMed:21152046, PubMed:28167758, PubMed:37478846). The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5 (PubMed:19398580, PubMed:28167758). In the absence of ligand, the RXR-RAR heterodimers associate with a multiprotein complex containing transcription corepressors that induce histone deacetylation, chromatin condensation and transcriptional suppression (PubMed:16417524). On ligand binding, the corepressors dissociate from the receptors and associate with the coactivators leading to transcriptional activation (PubMed:19850744, PubMed:20215566, PubMed:37478846, PubMed:9267036). Formation of a complex with histone deacetylases might lead to inhibition of RARE DNA element binding and to transcriptional repression (PubMed:28167758). Transcriptional activation and RARE DNA element binding might be supported by the transcription factor KLF2 (PubMed:28167758). RARA plays an essential role in the regulation of retinoic acid-induced germ cell development during spermatogenesis (By similarity). Has a role in the survival of early spermatocytes at the beginning prophase of meiosis (By similarity). In Sertoli cells, may promote the survival and development of early meiotic prophase spermatocytes (By similarity). In concert with RARG, required for skeletal growth, matrix homeostasis and growth plate function (By similarity). Together with RXRA, positively regulates microRNA-10a expression, thereby inhibiting the GATA6/VCAM1 signaling response to pulsatile shear stress in vascular endothelial cells (PubMed:28167758). In association with HDAC3, HDAC5 and HDAC7 corepressors, plays a role in the repression of microRNA-10a and thereby promotes the inflammatory response (PubMed:28167758)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 15, "reported_mutagensis": 20, "reported_glycation": 0, "reported_snv": 35, "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": "B8Y636;P78456;Q13440;Q13441;Q96S41;Q9NQS0", "ec_number_list": [], "go_molecular_function": "GO:0000900 mRNA regulatory element binding translation repressor activity;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0005102 signaling receptor binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0032736 positive regulation of interleukin-13 production;GO:0032754 positive regulation of interleukin-5 production;GO:0060010 Sertoli cell fate commitment;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001889 liver development", "synthesized_glycan_count": 0, "hit_score": 18.9, "record_id": "P10276-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62136-1", "uniprot_id": [ { "id": "PP1A_HUMAN", "url": "https://www.uniprot.org/uniprot/P62136", "type": "external" } ], "mass": 37512.0, "length": 330, "protein_name": "Serine/threonine-protein phosphatase PP1-alpha catalytic subunit", "gene_name": "PPP1CA", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase PP1-alpha catalytic subunit isoform 3", "refseq_ac": [ { "id": "NP_001008709", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008709", "type": "external" } ], "gene_names_uniprotkb": "PPP1CA; PPP1A", "gene_names_refseq": "PP-1A; PP1A; PP1alpha; PPP1A; PPP1CA", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase PP1-alpha catalytic subunit; 3.1.3.16; PP-1A", "protein_names_refseq": "protein phosphatase 1, catalytic subunit, alpha isozyme; serine/threonine protein phosphatase PP1-alpha 1 catalytic subunit; serine/threonine-protein phosphatase PP1-alpha catalytic subunit isoform 3; serine/threonine-protein phosphatase PP1-alpha catalytic subunit; testicular tissue protein Li 155", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:5499); (R-HSA-163560); (R-HSA-180024); (R-HSA-2173788); (R-HSA-9770562); (R-HSA-9828806); (R-HSA-9931530)", "pathway_count": 7, "publication_count": 243, "publication_id_list": "10506210;10519551;10604473;10669729;10671541;10757800;10790862;11060040;11158580;11163210;11165242;11232563;11237011;11278251;11564868;11739654;11839776;12065642;12151385;12202491;12226088;12393858;12519765;12832420;14633703;14701756;14718519;14749727;14750904;15004565;15037765;15116427;15364929;15456755;15496141;15565158;15705855;15781469;15800623;16027725;16061177;16171404;16263087;16732323;16741517;17128255;17202132;17283141;17535922;17603008;17626005;17890166;17965019;18088087;18288197;18446792;18669648;18991276;18992256;19181555;19217410;19377461;19389623;19581931;19758997;19805222;19826001;20061380;20068231;20129061;20305656;20424263;20516061;20695905;20937913;21295486;21331744;21504868;2161401;21712997;21996745;22045334;22220831;22344298;22367880;22424782;22544926;22813749;22898188;23186163;23213405;23301498;23396208;23499489;23783831;23846654;23874216;24076191;24149845;24397554;24591642;24714562;24715725;25301780;25301781;25418920;25502872;25556058;25556658;25645385;25802875;25810538;26083323;26095357;26154972;26768311;26811146;26891914;26929215;26981768;26992070;27397612;27543614;27600516;27920218;28063628;28096519;28216226;28218747;28228285;28467828;28514659;28832583;28860189;28904123;28911096;29186539;29242379;29274231;29331515;29371260;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769351;29784789;29786170;29789417;30100357;30139799;30158517;30257008;30315122;30410026;30418433;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31677974;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32816001;32897882;32938616;32983136;33043033;33091337;33123756;33141586;33214551;33264625;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34405274;34509645;34932366;35051231;35177536;35251023;35318648;35561310;35580925;35768504;35830882;35831509;36010968;36175670;36215666;36241641;37938771;38057879;38665916;39256359;39446389;39603239;39603240;39894887;40914422;6087160;6296685;6330098;6501302;8384581;8392016;8663227;9023344;9099992;9122166;9197238;9215638;9335507;9371714;9659921;9856985", "class_list": "", "function": "(Microbial infection) Necessary for alphaviruses replication., [UniProtKB, PubMed]; CircGPRC5A enhances colorectal cancer progress by stabilizing PPP1CA and inducing YAP dephosphorylation. Publication Status: Online-Only, [RefSeq, PubMed]; Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets (PubMed:28216226, PubMed:30158517, PubMed:35768504, PubMed:35830882, PubMed:35831509, PubMed:36175670, PubMed:39603239, PubMed:39603240). Protein phosphatase 1 (PP1) is essential for cell division, transcription elongation, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis (PubMed:35768504, PubMed:35830882, PubMed:35831509, PubMed:36175670, PubMed:39603239, PubMed:39603240). Involved in regulation of ionic conductances and long-term synaptic plasticity. May play an important role in dephosphorylating substrates such as the postsynaptic density-associated Ca(2+)/calmodulin dependent protein kinase II. Catalytic component of the PNUTS-PP1 protein phosphatase complex, a protein phosphatase 1 (PP1) complex that promotes RNA polymerase II transcription pause-release, allowing transcription elongation: the PNUTS-PP1 complex mediates the release of RNA polymerase II from promoter-proximal region of genes by catalyzing dephosphorylation of proteins involved in transcription, such as AFF4, CDK9, MEPCE, INTS12, NCBP1, POLR2M/GDOWN1 and SUPT6H (PubMed:39603239, PubMed:39603240). The PNUTS-PP1 complex also regulates transcription termination by mediating dephosphorylation of SUPT5H in termination zones downstream of poly(A) sites, thereby promoting deceleration of RNA polymerase II transcription (PubMed:31677974). PNUTS-PP1 complex is also involved in the response to replication stress by mediating dephosphorylation of POLR2A at 'Ser-5' of the CTD, promoting RNA polymerase II degradation (PubMed:33264625). PNUTS-PP1 also plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase (PubMed:20516061). Regulates NEK2 function in terms of kinase activity and centrosome number and splitting, both in the presence and absence of radiation-induced DNA damage (PubMed:17283141). Regulator of neural tube and optic fissure closure, and enteric neural crest cell (ENCCs) migration during development (By similarity). In balance with CSNK1D and CSNK1E, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation (PubMed:21712997). May dephosphorylate CSNK1D and CSNK1E (PubMed:21712997). 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). Dephosphorylates CENPA (PubMed:25556658). Dephosphorylates the 'Ser-139' residue of ATG16L1 causing dissociation of ATG12-ATG5-ATG16L1 complex, thereby inhibiting autophagy (PubMed:26083323). Together with PPP1CC (PP1-gamma subunit), dephosphorylates IFIH1/MDA5 and RIG-I leading to their activation and a functional innate immune response (PubMed:23499489). Core component of the SHOC2-MRAS-PP1c (SMP) holophosphatase complex that regulates the MAPK pathway activation (PubMed:35768504, PubMed:35830882, 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:35830882, PubMed:35831509, PubMed:36175670). The SMP complex enhances the dephosphorylation activity and substrate specificity of PP1c (PubMed:35768504, PubMed:36175670)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). This broadly expressed gene encodes the alpha subunit of the PP1 complex that associates with over 200 regulatory proteins to form holoenzymes which dephosphorylate their biological targets with high specificity. 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. Increased PP1 activity has been observed in the end stage of heart failure. Studies suggest that PP1 is an important regulator of cardiac function and that PP1 deregulation is implicated in diabetes and multiple types of cancer. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "reported_glycation": 0, "reported_snv": 7, "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": "A6NNR3;B2R908;P08129;P20653;P22802;Q07161", "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": "3.6.4.13", "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": "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": "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": "2.3.2.27", "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:0005506 iron ion binding;GO:0043021 ribonucleoprotein complex binding;GO:0046914 transition metal ion binding;GO:0004722 protein serine/threonine phosphatase activity;GO:0008157 protein phosphatase 1 binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000164 protein phosphatase type 1 complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0046579 positive regulation of Ras protein signal transduction;GO:0005981 regulation of glycogen catabolic process;GO:0043247 telomere maintenance in response to DNA damage;GO:0010288 response to lead ion;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 24.6, "record_id": "P62136-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15198-1", "uniprot_id": [ { "id": "SMAD9_HUMAN", "url": "https://www.uniprot.org/uniprot/O15198", "type": "external" } ], "mass": 52493.0, "length": 467, "protein_name": "SMAD family member 9", "gene_name": "SMAD9", "organism": "Human", "refseq_name": "SMAD family member 9 isoform a", "refseq_ac": [ { "id": "NP_001120689", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120689", "type": "external" } ], "gene_names_uniprotkb": "SMAD9; MADH6; MADH9; SMAD8", "gene_names_refseq": "MADH6; MADH9; PPH2; SMAD8/9; SMAD8A; SMAD8B; SMAD8; SMAD9", "protein_names_uniprotkb": "SMAD family member 9; MAD homolog 9; Madh6; Mothers against DPP homolog 9; Mothers against decapentaplegic homolog 9; SMAD 9", "protein_names_refseq": "MAD homolog 9; Mothers against decapentaplegic, drosophila, homolog of, 9; SMAD family member 9 isoform a; SMAD, mothers against DPP homolog 9", "tax_id": 9606, "disease": "juvenile polyposis syndrome (Disease Ontology:DOID:0050787); arteriovenous malformations of the brain (Disease Ontology:DOID:0060688); prostate cancer (Disease Ontology:DOID:10283); primary pulmonary hypertension (Disease Ontology:DOID:14557); pulmonary hypertension (Disease Ontology:DOID:6432)", "pathway": " (hsa:4093); (R-HSA-201451)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10458166;10587654;10647776;10708948;10708949;10712517;11016919;11121043;11158580;11237011;11278251;11509558;11571290;11714695;11779505;12151385;12519765;12592392;12821673;12857866;16672363;17029022;17068149;17311849;17356069;21898662;24715725;25755279;26992070;28834231;28904123;29242379;29493099;30429286;31844290;32387766;32488085;33981976;35051231;36010968;36241641;36284347;36883270;38703029;7644468;7791754;8119126;8653785;8893010;9136927;9205116;9436979;9759503", "class_list": "", "function": "Long noncoding RNA BMPR1B-AS1 stability regulated by IGF2BP2 affects the decidualization in endometriosis patients through the SMAD1/5/9 pathway., [RefSeq, PubMed]; Secreted phosphoprotein 24 kD (Spp24) inhibits the growth of human osteosarcoma through the BMP-2/Smad signaling pathway., [RefSeq, PubMed]; The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]., [RefSeq]; Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD)., [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": 8, "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": "A2A2Y6;O14989;Q5TBA1", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0046872 metal ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0070411 I-SMAD 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:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006879 intracellular iron ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "O15198-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75044-1", "uniprot_id": [ { "id": "SRGP2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75044", "type": "external" } ], "mass": 120871.0, "length": 1071, "protein_name": "SLIT-ROBO Rho GTPase-activating protein 2", "gene_name": "SRGAP2", "organism": "Human", "refseq_name": "SLIT-ROBO Rho GTPase-activating protein 2 isoform c", "refseq_ac": [ { "id": "NP_001164108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164108", "type": "external" } ], "gene_names_uniprotkb": "SRGAP2; ARHGAP34; FNBP2; KIAA0456; SRGAP2A", "gene_names_refseq": "ARHGAP34; FNBP2; SRGAP2A; SRGAP2", "protein_names_uniprotkb": "SLIT-ROBO Rho GTPase-activating protein 2; Formin-binding protein 2; Rho GTPase-activating protein 34; srGAP2", "protein_names_refseq": "SLIT-ROBO GAP2; SLIT-ROBO Rho GTPase-activating protein 2 isoform c; formin-binding protein 2; rho GTPase-activating protein 34", "tax_id": 9606, "disease": "", "pathway": " (hsa:23380); (R-HSA-428543); (R-HSA-5663220); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013406); (R-HSA-9013420); (R-HSA-9013423); (R-HSA-9035034)", "pathway_count": 9, "publication_count": 398, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10600384;10618392;10678165;10699171;10699464;10724160;10873802;10958683;10967094;11007481;11058585;11085924;11149925;11185749;11237011;11306516;11373293;11396949;11431473;11432776;11459829;11584276;11606631;11672528;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11956649;11961559;12071859;12093360;12096337;12172552;12195014;12221096;12242347;12351724;12429848;12432077;12456725;12464619;12531887;12546821;12547822;12577064;12650940;12665586;12732141;12736724;12773384;12805219;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15006353;15023524;15033976;15064355;15085137;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15350535;15485661;15507211;15507212;15546864;15556869;15579468;15601624;15611138;15728722;15850391;15858067;15864301;15866170;15897194;15944396;16002401;16112081;16116428;16184169;16217026;16243036;16292343;16439214;16473593;16492808;16507994;16519628;16622419;16622420;16630611;16636067;16702231;16714282;16762923;16777452;16777849;16862148;16896804;16914516;16943183;16968698;17030981;17064668;17077126;17081983;17129783;17145773;17196961;17198702;17214551;17244649;1737036;17504809;17583407;17599059;17702745;17765681;17804252;17932950;17976533;18001770;18006505;18045877;18056264;18097444;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18669648;18697831;18786931;18835169;18838382;18923426;18929667;19064640;19258391;19269969;19350017;19413330;19494238;19534724;19605563;19651622;19673492;19713215;19807924;19815554;19934221;20030946;20068231;20101212;20233848;20400958;20460433;20547754;20591975;20679435;20810653;21119010;21148482;21397845;21454492;21508312;21542010;21565175;21576392;21613211;21685891;21730051;21865595;21868368;21989057;22004470;22094460;22096251;22106086;22275430;22298643;22407364;22461490;22467852;22475431;22559944;22571869;22608513;22734669;22790947;22970203;23096567;23186163;23200924;23209303;23222643;23255595;23288169;23301498;23406282;23434736;23481700;23572525;23707487;23718289;23801653;23940355;24086303;24259668;24275569;24297911;24335996;24352656;24355937;24419634;24584464;24859002;24914801;24933155;24960694;24996924;25024229;25211221;25418920;25428919;25576301;25645385;25668492;25678704;25704760;25721503;25795300;25862245;25892735;25963737;26129894;26299518;26365803;26529257;26598554;26598620;26628301;26887924;26929215;27096001;27117132;27145964;27216196;27278019;27373832;27481945;27555588;27566826;27713499;27798618;27806292;27917825;28028151;28114311;28196833;28333212;28356423;28825699;28860633;29089502;29358323;29382922;29557506;30061681;30379171;30429286;30779550;30853411;31154438;31217245;31844290;31848261;31871319;32157095;32203420;32357974;32387766;32488085;32502341;32737221;32897882;32938616;32938750;32983136;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34509645;35051231;35254053;35289036;35318648;35580925;36010968;36059022;36215666;36241641;36277474;36284347;36581221;36593959;38665916;39302247;39531497;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;9252344;9268338;9305890;9405671;9438849;9490638;9497316;9582072;9649308;9659915;9670022;9792683;9822598;9829970;9843499;9846874;9857026;9988689", "class_list": "", "function": "FNBP2 gene was linked to IKBKE and NORE1 genes on human chromosome 1q32.1. FNBP2 mRNA was expressed in melanoma, germ cell tumors, chondrosarcoma and retinoblastoma., [RefSeq, PubMed]; GTPase-activating protein for RhoA and Cdc42 small GTPases. Together with CDC42 seems to be involved in the pathway mediating the repulsive signaling of Robo and Slit proteins in neuronal migration. SLIT2, probably through interaction with ROBO1, increases the interaction of SRGAP1 with ROBO1 and inactivates CDC42., [UniProtKB, UniProtKB]; Postsynaptic RAC1 GTPase activating protein (GAP) that plays a key role in neuronal morphogenesis and migration mainly during development of the cerebral cortex (PubMed:20810653, PubMed:27373832, PubMed:28333212). Regulates excitatory and inhibitory synapse maturation and density in cortical pyramidal neurons (PubMed:22559944, PubMed:27373832). SRGAP2/SRGAP2A limits excitatory and inhibitory synapse density through its RAC1-specific GTPase activating activity, while it promotes maturation of both excitatory and inhibitory synapses through its ability to bind to the postsynaptic scaffolding protein HOMER1 at excitatory synapses, and the postsynaptic protein GPHN at inhibitory synapses (By similarity). Mechanistically, acts by binding and deforming membranes, thereby regulating actin dynamics to regulate cell migration and differentiation (PubMed:27373832). Promotes cell repulsion and contact inhibition of locomotion: localizes to protrusions with curved edges and controls the duration of RAC1 activity in contact protrusions (By similarity). In non-neuronal cells, may also play a role in cell migration by regulating the formation of lamellipodia and filopodia (PubMed:20810653, PubMed:21148482)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; SRGAP2 controls colorectal cancer chemosensitivity via regulation of mitochondrial complex I activity., [RefSeq, PubMed]; Stiff matrix induced srGAP2 tension gradients control migration direction in triple-negative breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogs on human chromosome 1 resulting from segmental duplication. While this locus itself is conserved among various species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Jul 2014]., [RefSeq]; Tumor-Derived Exosomal miR-29b Reduces Angiogenesis in Pancreatic Cancer by Silencing ROBO1 and SRGAP2. 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": 29, "reported_mutagensis": 12, "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": "A2RUF3", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0014069 postsynaptic density", "go_biological_process": "GO:0003363 lamellipodium assembly involved in ameboidal cell migration;GO:1904861 excitatory synapse assembly;GO:0021816 extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration;GO:0007165 signal transduction;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 40.5, "record_id": "O75044-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A2RRH5-1", "uniprot_id": [ { "id": "WDR27_HUMAN", "url": "https://www.uniprot.org/uniprot/A2RRH5", "type": "external" } ], "mass": 90038.0, "length": 827, "protein_name": "WD repeat-containing protein 27", "gene_name": "WDR27", "organism": "Human", "refseq_name": "WD repeat-containing protein 27 isoform 2", "refseq_ac": [ { "id": "NP_001189479", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189479", "type": "external" } ], "gene_names_uniprotkb": "WDR27", "gene_names_refseq": "WDR27", "protein_names_uniprotkb": "WD repeat-containing protein 27", "protein_names_refseq": "WD repeat-containing protein 27 isoform 2; WD repeat-containing protein 27", "tax_id": 9606, "disease": "", "pathway": " (hsa:253769)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;25645385;25880248;26375851;27600516;27846572;27862975;28228285;28832583;29242379;29493099;29508533;29557506;30315122;30524438;30779550;31154438;31222486;31530632;31844290;32157095;32357974;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33936100;33968037;33981976;34087483;34171305;34932366;35051231;35254053;35580925;36010968;36215666;36241641;39894887", "class_list": "", "function": "This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A5PLM8;C9JGV0;Q5T066", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "A2RRH5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NP73-1", "uniprot_id": [ { "id": "ALG13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NP73", "type": "external" } ], "mass": 126056.0, "length": 1137, "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG13", "gene_name": "ALG13", "organism": "Human", "refseq_name": "UDP-N-acetylglucosamine transferase subunit ALG13 isoform 3", "refseq_ac": [ { "id": "NP_001034299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034299", "type": "external" } ], "gene_names_uniprotkb": "ALG13; CXorf45; GLT28D1; MDS031", "gene_names_refseq": "ALG13; CDG1S; CXorf45; DEE36; EIEE36; GLT28D1; MDS031; TDRD13; YGL047W", "protein_names_uniprotkb": "UDP-N-acetylglucosamine transferase subunit ALG13; 2.4.1.141; Asparagine-linked glycosylation 13 homolog; Glycosyltransferase 28 domain-containing protein 1", "protein_names_refseq": "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase; UDP-N-acetylglucosamine transferase subunit ALG13 homolog; UDP-N-acetylglucosamine transferase subunit ALG13 isoform 3; asparagine-linked glycosylation 13 homolog; glycosyltransferase 28 domain-containing protein 1; hematopoietic stem/progenitor cells protein MDS031; putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13; tudor domain containing 13", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 36 (Disease Ontology:DOID:0080470)", "pathway": " (hsa:79868); (R-HSA-446193); (R-HSA-5633231)", "pathway_count": 3, "publication_count": 66, "publication_id_list": "10359825;10704531;11237011;11278778;11807558;11983712;12030331;12200473;12684507;12872255;14709599;14973778;14973782;15148656;15235028;15710750;15840742;15945070;16007612;16100110;16859551;16878994;18313027;18597486;19282279;22492991;22742743;23033978;23404334;23827681;23934111;25505266;25645385;25880248;26138355;26374642;27476654;28777499;31154438;31217245;31844290;32157095;32357974;32387766;32502341;32681751;32816001;32938616;32983136;33141586;33298915;33410528;33583022;33734437;33912179;33936100;33968037;34087483;34357683;34509645;34561969;35051231;36010968;36200043;9451016;9597543", "class_list": "glycogene;glycosyltransferase", "function": "ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes., [RefSeq, PubMed]; ALG13 and ALG14 form a functional endoplasmic reticulum UDP-N-acetylglucosamine transferase, [RefSeq, PubMed]; Catalytic subunit of the UDP-N-acetylglucosamine transferase complex 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. On the cytoplasmic face of the endoplasmic reticulum, the dimeric ALG13/ALG14 complex catalyzes the second step of dolichol pyrophosphate biosynthesis, transferring a beta1,4-linked N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to GlcNAc-pyrophosphatedolichol (Gn-PDol) to produce N,N'-diacetylchitobiosyl diphosphodolichol. N,N'-diacetylchitobiosyl diphosphodolichol is a substrate for ALG1, the following enzyme in the biosynthetic pathway., [UniProtKB, PubMed, PubMed, PubMed]; Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG., [RefSeq, PubMed]; No glycosyltransferase or deubiquitinase activity is detected for this potential multifunctional enzyme., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy., [RefSeq, PubMed]; The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 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": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1197, "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": "B1AKD6;B1AKM1;B2R5L5;B7Z6J0;B7Z804;B7Z847;B7Z9A8;B7ZAJ1;B7ZB57;Q17RC3;Q5JXY9;Q9H5U8", "ec_number_list": [ { "id": "2.4.1.141", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.141", "type": "external" } ], "go_molecular_function": "GO:0004577 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity;GO:0008234 cysteine-type peptidase activity", "go_cellular_component": "GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0005789 endoplasmic reticulum membrane;GO:0043541 UDP-N-acetylglucosamine transferase complex;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0006508 proteolysis;GO:0006488 dolichol-linked oligosaccharide biosynthetic process;GO:0006487 protein N-linked glycosylation", "synthesized_glycan_count": 15150, "hit_score": 6.9, "record_id": "Q9NP73-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001000.001.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NM10-1", "uniprot_id": [ { "id": "AQ12B_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NM10", "type": "external" } ], "mass": 31475.0, "length": 295, "protein_name": "Putative aquaporin-12B", "gene_name": "AQP12B", "organism": "Human", "refseq_name": "putative aquaporin-12B", "refseq_ac": [ { "id": "NP_001095937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095937", "type": "external" } ], "gene_names_uniprotkb": "AQP12B; INSSA3", "gene_names_refseq": "AQP12B; INSSA3", "protein_names_uniprotkb": "Putative aquaporin-12B; AQP-12B", "protein_names_refseq": "AQP-12B; insulin synthesis associated 3; putative aquaporin-12B", "tax_id": 9606, "disease": "", "pathway": " (hsa:653437)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;28218747;35494241;36167651", "class_list": "", "function": "Genetic analysis of the aquaporin water channels AQP12A and AQP12B in patients with chronic pancreatitis., [RefSeq, PubMed]; Putative aquaporin. Could form homotetrameric transmembrane channels, with each monomer independently mediating water transport across the plasma membrane along its osmotic gradient., [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": 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": "A4QPB9", "ec_number_list": [], "go_molecular_function": "GO:0015267 channel activity;GO:0015250 water channel activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A6NM10-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07157-1", "uniprot_id": [ { "id": "ZO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07157", "type": "external" } ], "mass": 195459.0, "length": 1748, "protein_name": "Tight junction protein 1", "gene_name": "TJP1", "organism": "Human", "refseq_name": "tight junction protein 1 isoform a", "refseq_ac": [ { "id": "NP_003248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003248", "type": "external" } ], "gene_names_uniprotkb": "TJP1; ZO1", "gene_names_refseq": "TJP1; ZO-1", "protein_names_uniprotkb": "Tight junction protein 1; Tight junction protein ZO-1; Zona occludens protein 1; Zonula occludens protein 1", "protein_names_refseq": "tight junction protein 1 isoform a; tight junction protein ZO-1; zona occludens 1; zonula occludens 1 protein", "tax_id": 9606, "disease": "metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); uveitis (Disease Ontology:DOID:13141); cholestasis (Disease Ontology:DOID:13580); peptic esophagitis (Disease Ontology:DOID:13976); brain ischemia (Disease Ontology:DOID:2316); bile duct cancer (Disease Ontology:DOID:4606); gallbladder carcinoma (Disease Ontology:DOID:4948); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); brain disease (Disease Ontology:DOID:936)", "pathway": " (hsa:7082); (R-HSA-191650); (R-HSA-2028269); (R-HSA-351906); (R-HSA-8935964); (R-HSA-9705677); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 160, "publication_id_list": "10.1101/2023.09.13.557529;10748026;11076937;11118213;11124251;11237011;11278283;11500511;11734628;11747608;12023291;12154091;12354695;12506110;12907686;14519844;14762106;15054114;15084397;15109305;15183511;15688006;16286477;16497976;16737969;16930133;17015620;17081983;17085597;17287340;17322306;17559062;17897942;17928286;17974916;18077418;18158288;18212344;18220336;18227151;18328708;18452278;18636092;18669648;18707149;18767875;18823282;19332538;19413330;19415658;19531498;19567915;19651622;19664994;19664995;20068231;20093627;20166139;20200156;20412773;20850437;20861307;20868367;20930113;21187284;21205866;21224387;21233212;21240187;21387411;21406692;21555462;21832154;21911577;22016770;22030391;23186163;23967087;24275569;25452107;25576301;25645385;25753039;26092250;27108190;27600516;27846572;27862975;28169360;28657654;28832583;29237092;29242379;29331515;29351928;29393594;29557506;29786170;29789417;29902443;30379171;30484775;30599162;30779550;31154438;31222486;31473225;31492838;31530632;31637018;31844290;31848261;32157095;32161166;32387766;32488085;32822073;32891874;32938616;33177556;33537174;33592498;33864728;33968037;33981976;34019948;34087483;34106957;34117354;34171305;34185709;34509645;35051231;35215846;35251023;35254053;35318648;35494241;35580925;36010968;36241641;36284347;37340703;37938771;38253038;38630149;38665916;38795825;39244903;39302247;39531497;39534244;40596516;41350704;7542259;7798316;8395056;8702870;9545236;9792688", "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]; IL-8 promotes lens capsular residual cells migration by down-regulates expression of E-cadherin and ZO-1 via the CXCR1/2-NF-kappaB-RhoA signal pathway., [RefSeq, PubMed]; TJP1 suppresses trophoblast cell invasion by expressing E2F8 in the human placenta., [RefSeq, PubMed]; TJP1, TJP2, and TJP3 are closely related scaffolding proteins that link tight junction (TJ) transmembrane proteins such as claudins, junctional adhesion molecules, and occludin to the actin cytoskeleton (PubMed:7798316, PubMed:9792688). Forms a multistranded TJP1/ZO1 condensate which elongates to form a tight junction belt, the belt is anchored at the apical cell membrane via interaction with PATJ (By similarity). The tight junction acts to limit movement of substances through the paracellular space and as a boundary between the compositionally distinct apical and basolateral plasma membrane domains of epithelial and endothelial cells. Necessary for lumenogenesis, and particularly efficient epithelial polarization and barrier formation (By similarity). Plays a role in the regulation of cell migration by targeting CDC42BPB to the leading edge of migrating cells (PubMed:21240187). Plays an important role in podosome formation and associated function, thus regulating cell adhesion and matrix remodeling (PubMed:20930113). With TJP2 and TJP3, participates in the junctional retention and stability of the transcription factor DBPA, but is not involved in its shuttling to the nucleus (By similarity). May play a role in mediating cell morphology changes during ameloblast differentiation via its role in tight junctions (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed]; The Src homology 3 domain is required for junctional adhesion molecule binding to the third PDZ domain of the scaffolding protein ZO-1., [RefSeq, PubMed]; This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family of proteins, and acts as a tight junction adaptor protein that also regulates adherens junctions. Tight junctions regulate the movement of ions and macromolecules between endothelial and epithelial cells. The multidomain structure of this scaffold protein, including a postsynaptic density 95/disc-large/zona occludens (PDZ) domain, a Src homology (SH3) domain, a guanylate kinase (GuK) domain and unique (U) motifs all help to co-ordinate binding of transmembrane proteins, cytosolic proteins, and F-actin, which are required for tight junction function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]., [RefSeq]; ZO-1 is a central regulator of VE-cadherin-dependent endothelial junctions that orchestrates the spatial actomyosin organization., [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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 82, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 68, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 9, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "B4E3K1;Q2NKP3;Q4ZGJ6", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0045296 cadherin binding;GO:0050839 cell adhesion molecule binding;GO:0005042 netrin receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0005923 bicellular tight junction", "go_biological_process": "GO:1903672 positive regulation of sprouting angiogenesis;GO:0150105 protein localization to cell-cell junction;GO:0008284 positive regulation of cell population proliferation;GO:0030335 positive regulation of cell migration;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 18.5, "record_id": "Q07157-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UX46-1", "uniprot_id": [ { "id": "ALKL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UX46", "type": "external" } ], "mass": 16915.0, "length": 152, "protein_name": "ALK and LTK ligand 2", "gene_name": "ALKAL2", "organism": "Human", "refseq_name": "ALK and LTK ligand 2 precursor", "refseq_ac": [ { "id": "NP_001002919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002919", "type": "external" } ], "gene_names_uniprotkb": "ALKAL2; FAM150B; PRO1097", "gene_names_refseq": "ALKAL2; AUGA; FAM150B; PRO1097; RGPG542", "protein_names_uniprotkb": "ALK and LTK ligand 2; AUG-alpha; Augmentor alpha", "protein_names_refseq": "ALK and LTK ligand 2 precursor; AUG-alpha; augmentor alpha; augmentor-beta; family with sequence similarity 150 member B; protein FAM150B", "tax_id": 9606, "disease": "", "pathway": " (hsa:285016); (R-HSA-201556); (R-HSA-9842663)", "pathway_count": 3, "publication_count": 88, "publication_id_list": "10445845;10587647;11110708;11121404;11237011;11278720;11280786;11607835;11751994;11850821;12122009;12424201;12934099;12975309;14563642;14695357;14962911;15226403;15308621;15317731;15374880;15588951;15592455;15895073;15938644;16153455;16170336;16317043;16825495;16871283;16878150;16939498;17038317;17086210;17185414;17274988;17353907;17681947;18070884;18097461;18724359;18849880;18923524;18990089;19459784;19815557;20548102;20632993;20719933;21154129;21345110;22162641;22286764;22347506;22439933;23201355;23239810;23889739;24060861;24356251;24670165;24736079;24947326;25331893;25342631;25421750;26418745;26464158;26630010;26708155;27780853;29317532;29380702;29455642;29873274;29964125;30061385;30692217;31585938;32502341;33411331;34646012;34819673;35351152;36010968;8633037;9223670;9819383", "class_list": "", "function": "ALK ligand ALKAL2 potentiates MYCN-driven neuroblastoma in the absence of ALK mutation., [RefSeq, PubMed]; Activation of ALK/LTK family receptors by small ALKAL proteins (FAM150, AUG) conserved in vertebrates, [RefSeq, PubMed]; Cytokine that acts as a physiological ligand for receptor tyrosine kinases LTK and ALK, leading to their activation (PubMed:26418745, PubMed:26630010, PubMed:30061385, PubMed:33411331, PubMed:34646012, PubMed:34819673). Cytokine-binding is sufficient to activate LTK (PubMed:34646012). In contrast, ALKAL2-driven activation of ALK is coupled with heparin-binding to ALK (PubMed:34646012). Stimulation of ALK signaling is involved in neural development and regulation of energy expenditure (PubMed:34646012, PubMed:34819673)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Data show FAM150B, which was named as augmentor-alpha (AUG-alpha), binds and activtes both anaplastic lymphoma kinase (ALK) and tyrosine kinase (LTK)., [RefSeq, PubMed]; In conclusion, these data show that ALK is robustly activated by the FAM150A/B ligands. Publication Status: Online-Only, [RefSeq, PubMed]; Only two related secreted factors, FAM150A and FAM150B (family with sequence similarity 150 member A and member B), stimulated LTK phosphorylation., [RefSeq, PubMed]; The autocrine loop of ALK receptor and ALKAL2 ligand is an actionable target in consensus molecular subtype 1 colon 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B5MC76", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0030971 receptor tyrosine kinase binding;GO:0030298 receptor signaling protein tyrosine kinase activator activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0010976 positive regulation of neuron projection development;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0070378 positive regulation of ERK5 cascade", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q6UX46-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXC1-1", "uniprot_id": [ { "id": "AEGP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXC1", "type": "external" } ], "mass": 131499.0, "length": 1216, "protein_name": "Apical endosomal glycoprotein", "gene_name": "MAMDC4", "organism": "Human", "refseq_name": "apical endosomal glycoprotein precursor", "refseq_ac": [ { "id": "NP_996803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_996803", "type": "external" } ], "gene_names_uniprotkb": "MAMDC4; AEGP; PRO9742", "gene_names_refseq": "AEGP; EDTB; MAMDC4", "protein_names_uniprotkb": "Apical endosomal glycoprotein; MAM domain-containing protein 4", "protein_names_refseq": "MAM domain-containing protein 4; apical early endosomal glycoprotein; apical endosomal glycoprotein precursor; apical endosomal glycoprotein; endotubin", "tax_id": 9606, "disease": "", "pathway": " (hsa:158056)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;12975309;16959974;25956157;27821716;31530632;33912179;35051231;38787854;7829488", "class_list": "", "function": "Expression is localized to the apical surface of the neonatal enterocyte and decreases over time in association with bacterial colonization of the intestine, [RefSeq, PubMed]; PMID:7829488 describes studies in rat, however, the human MAMDC4 gene product appears to be a homolog of rat apical early endosomal glycoprotein., [RefSeq, PubMed]; Probably involved in the sorting and selective transport of receptors and ligands across polarized epithelia., [UniProtKB, UniProtKB]; Regulation of YAP and Wnt signaling by the endosomal protein MAMDC4. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that it is the presence of rare syntenic SEC16A and MAMDC4 deletions that increases susceptibility to axial spondyloarthritis in family members who carry the HLA-B*27 allele., [RefSeq, PubMed]", "predicted_glycosites": 9, "predicted_n_glycosites": 6, "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 43, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A2A3D4;B0QZ81;Q5T5S2;Q8NCX7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0007399 nervous system development;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q6UXC1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14965-1", "uniprot_id": [ { "id": "AURKA_HUMAN", "url": "https://www.uniprot.org/uniprot/O14965", "type": "external" } ], "mass": 45823.0, "length": 403, "protein_name": "Aurora kinase A", "gene_name": "AURKA", "organism": "Human", "refseq_name": "aurora kinase A isoform 1", "refseq_ac": [ { "id": "NP_001310232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310232", "type": "external" } ], "gene_names_uniprotkb": "AURKA; AIK; AIRK1; ARK1; AURA; AYK1; BTAK; IAK1; STK15; STK6", "gene_names_refseq": "AIK; ARK1; AURA; AURKA; BTAK; PPP1R47; STK15; STK6; STK7", "protein_names_uniprotkb": "Aurora kinase A; 2.7.11.1; ARK-1; Aurora 2; Aurora-related kinase 1; Aurora/IPL1-related kinase 1; Breast tumor-amplified kinase; Ipl1- and aurora-related kinase 1; Serine/threonine-protein kinase 15; Serine/threonine-protein kinase 6; Serine/threonine-protein kinase Ayk1; Serine/threonine-protein kinase aurora-A", "protein_names_refseq": "aurora 2; aurora kinase A isoform 1; aurora/IPL1-like kinase; aurora/IPL1-related kinase 1; breast tumor-amplified kinase; protein phosphatase 1, regulatory subunit 47; serine/threonine protein kinase 15; serine/threonine-protein kinase 6; serine/threonine-protein kinase aurora-A", "tax_id": 9606, "disease": "urinary bladder cancer (Disease Ontology:DOID:11054); brain cancer (Disease Ontology:DOID:1319); ovary epithelial cancer (Disease Ontology:DOID:2152); ovarian cancer (Disease Ontology:DOID:2394); endometrial carcinoma (Disease Ontology:DOID:2871); invasive ductal carcinoma (Disease Ontology:DOID:3008); uterine cancer (Disease Ontology:DOID:363); renal cell carcinoma (Disease Ontology:DOID:4450); prostate carcinoma in situ (Disease Ontology:DOID:8634); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:6790); (R-HSA-174178); (R-HSA-2565942); (R-HSA-4615885); (R-HSA-6804114); (R-HSA-6804756); (R-HSA-8854050); (R-HSA-8854518); (R-HSA-8854521)", "pathway_count": 9, "publication_count": 284, "publication_id_list": "10435622;10500146;10524633;10570149;10604467;10673500;10673501;10710310;10733526;10759568;10851084;10862613;10884347;11039908;11237011;11239457;11447225;11511362;11546806;11551930;11551964;11574543;11709553;11740489;11780126;11790771;12064478;12149243;12207013;12237287;12364337;12390251;12393879;12446569;12467573;12576638;12702766;12832072;12851404;12914926;13678582;14523000;14580337;14603251;14625535;14702041;14990569;15014503;15053879;15128871;15147269;15173575;15186775;15271853;15271856;15466974;15469821;15498487;15574328;15678131;15688402;15705883;15866171;15867347;15931174;15966895;15987997;15989970;16011022;16083426;16246726;16322561;16337122;16411056;16413484;16737620;16762494;16772293;16849685;16890155;17102620;17108107;17125279;17143471;17172876;17183683;17187060;17229885;17344846;17349958;17360485;17488622;17525332;17591690;17599395;17604723;17627006;17719541;17726514;17850717;17895985;18026198;18056443;18378770;18381449;18394993;18477460;18487071;18490454;18521620;18566290;18614302;18615013;18662907;18663361;18691976;18946085;19007248;19121998;19140666;19351716;19357306;19402633;19596686;19668197;19774610;19801554;19812038;19954064;19965871;20068231;20460379;20596670;20603326;20643351;20663916;20799978;20825672;20842194;20959462;21167178;21187329;21225229;21242313;21300005;21317932;21347367;21554500;21600017;21807936;21829699;22011530;22014574;22094468;22240781;22306998;22365832;22451695;22457066;22464730;22529102;22621899;22641346;22753416;23000554;23037716;23043539;23213400;23485397;23485469;23516487;23676219;23678290;23755206;23803310;23864709;23924325;23934191;24096481;24145406;24154794;24195668;24499673;24574519;24782567;24867643;24874608;24901229;24930769;24980814;25002679;25082261;25114211;25154511;25218447;25501815;25532896;25576301;25645017;25654763;25657325;25760707;25872528;25986610;26134678;26246606;26369427;26380219;26729093;26732741;26782714;26842935;26929215;26992070;27138904;27192185;27242098;27271876;27335426;27600516;27624869;27721411;27837025;27863392;27920218;28063628;28218735;28228285;28389630;28458622;28592839;28832583;28834231;28861148;28869606;28972102;29163689;29222185;29242379;29262328;29331515;29393594;29508533;29531224;29556353;29568394;29632046;29656197;30070631;30082913;30315122;30379171;30524438;30538148;30573663;30779550;31254157;31291378;31530632;31546169;31881080;31920463;32161166;32804172;32932728;33091845;33402344;33669244;33674749;33771996;36215666;38781935;38879085;38892390;39015057;39198859;7784094;7973727;9153231;9514916;9606188;9659898;9771714;9925639", "class_list": "", "function": "Aurora Kinase A Is Overexpressed in Human Retinoblastoma and Correlates with Histopathologic High-Risk Factors: Implications for Targeted Therapy., [RefSeq, PubMed]; Elevated expression of Aurora-A/AURKA in breast cancer associates with younger age and aggressive features. Publication Status: Online-Only, [RefSeq, PubMed]; Hsa_circRNA_007630 knockdown delays colon cancer progression by modulation of ferroptosis via miR-506-3p/AURKA axis., [RefSeq, PubMed]; Involvement of Endolysosomes and Aurora Kinase A in the Regulation of Amyloid beta Protein Levels in Neurons. Publication Status: Online-Only, [RefSeq, PubMed]; Mitotic serine/threonine kinase that contributes to the regulation of cell cycle progression (PubMed:11039908, PubMed:12390251, PubMed:17125279, PubMed:17360485, PubMed:18615013, PubMed:26246606). Associates with the centrosome and the spindle microtubules during mitosis and plays a critical role in various mitotic events including the establishment of mitotic spindle, centrosome duplication, centrosome separation as well as maturation, chromosomal alignment, spindle assembly checkpoint, and cytokinesis (PubMed:14523000, PubMed:26246606). Required for normal spindle positioning during mitosis and for the localization of NUMA1 and DCTN1 to the cell cortex during metaphase (PubMed:27335426). Required for initial activation of CDK1 at centrosomes (PubMed:13678582, PubMed:15128871). Phosphorylates numerous target proteins, including ARHGEF2, BORA, BRCA1, CDC25B, DLGP5, HDAC6, KIF2A, LATS2, NDEL1, PARD3, PPP1R2, PLK1, RASSF1, TACC3, p53/TP53 and TPX2 (PubMed:11551964, PubMed:14702041, PubMed:15128871, PubMed:15147269, PubMed:15987997, PubMed:17604723, PubMed:18056443, PubMed:18615013). Phosphorylates MCRS1 which is required for MCRS1-mediated kinetochore fiber assembly and mitotic progression (PubMed:27192185). Regulates KIF2A tubulin depolymerase activity (PubMed:19351716). Important for microtubule formation and/or stabilization (PubMed:18056443). Required for normal axon formation (PubMed:19812038). Plays a role in microtubule remodeling during neurite extension (PubMed:19668197). Also acts as a key regulatory component of the p53/TP53 pathway, and particularly the checkpoint-response pathways critical for oncogenic transformation of cells, by phosphorylating and destabilizing p53/TP53 (PubMed:14702041). Phosphorylates its own inhibitors, the protein phosphatase type 1 (PP1) isoforms, to inhibit their activity (PubMed:11551964). Inhibits cilia outgrowth (By similarity). Required for cilia disassembly via phosphorylation of HDAC6 and subsequent deacetylation of alpha-tubulin (PubMed:17604723, PubMed:20643351). Regulates protein levels of the anti-apoptosis protein BIRC5 by suppressing the expression of the SCF(FBXL7) E3 ubiquitin-protein ligase substrate adapter FBXL7 through the phosphorylation of the transcription factor FOXP1 (PubMed:28218735)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription Factor ETV4 Activates AURKA to Promote PD-L1 Expression and Mediate Immune Escape in Lung Adenocarcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 14, "reported_glycation": 0, "reported_snv": 10, "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": "E1P5F9;O60445;O75873;Q9BQD6;Q9UPG5", "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": "2.3.2.24", "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": "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": "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": "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": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "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": "2.7.11.12", "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:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0006468 protein phosphorylation;GO:0010629 negative regulation of gene expression;GO:0045931 positive regulation of mitotic cell cycle;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 28.7, "record_id": "O14965-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15143-1", "uniprot_id": [ { "id": "ARC1B_HUMAN", "url": "https://www.uniprot.org/uniprot/O15143", "type": "external" } ], "mass": 40950.0, "length": 372, "protein_name": "Actin-related protein 2/3 complex subunit 1B", "gene_name": "ARPC1B", "organism": "Human", "refseq_name": "actin-related protein 2/3 complex subunit 1B isoform 1", "refseq_ac": [ { "id": "NP_005711", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005711", "type": "external" } ], "gene_names_uniprotkb": "ARPC1B; ARC41", "gene_names_refseq": "ARC41; ARPC1B; IMD71; PLTEID; p40-ARC; p41-ARC", "protein_names_uniprotkb": "Actin-related protein 2/3 complex subunit 1B; Arp2/3 complex 41 kDa subunit; p41-ARC", "protein_names_refseq": "ARP2/3 protein complex subunit p41; actin related protein 2/3 complex, subunit 1B, 41kDa; actin-related protein 2/3 complex subunit 1B isoform 1; arp2/3 complex 41 kDa subunit", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); myelodysplastic syndrome (Disease Ontology:DOID:0050908); immunodeficiency 71 (Disease Ontology:DOID:0112004); stomach cancer (Disease Ontology:DOID:10534); gastritis (Disease Ontology:DOID:4029); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:10095); (R-HSA-2029482); (R-HSA-3928662); (R-HSA-5663213); (R-HSA-9664422)", "pathway_count": 5, "publication_count": 154, "publication_id_list": "10219243;10496324;10559936;10724160;10781580;10878810;10995436;10995437;11058585;11134074;11157975;11231582;11237011;11276226;11278486;11329366;11340081;11553796;11580899;11741539;11747816;11804587;11829459;11854399;12055636;12105426;12189515;12213210;12235133;12546821;12665801;12702722;12743368;1314888;14676198;14749719;14988728;15040784;15378065;15452139;15548136;15657136;15721239;16262445;16298995;16546099;16641196;16702231;16880808;17081983;17188549;17202194;17287340;17308335;17440041;17548511;18070890;18391171;18707149;19553453;19608861;19651622;19741094;19955216;20068231;20603326;21037092;21419341;2201922;23555621;23675550;24366607;2474607;25418920;25802875;26758079;26811146;27600516;27846572;27920218;28063628;28218747;28368018;28514659;28832583;28904123;29242379;29317506;29393594;29437277;29557506;29632046;29925947;30315122;30410026;30429286;30573663;30779550;30833945;31092671;31154438;31530632;31844290;31848261;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33043033;33214551;33298915;33537174;33592498;33633747;33691108;33936100;33968037;34019948;34171305;34357683;34405274;34509645;34725712;34932366;35051231;35154160;35251023;35580925;35967303;36010968;36215666;36380368;38224139;38485907;38665916;39990658;40930100;7478585;7848918;8809042;8986718;9230079;9600938;9705280;9799231;9843499;9883880;9885284", "class_list": "", "function": "ARPC1B promotes mesenchymal phenotype maintenance and radiotherapy resistance by blocking TRIM21-mediated degradation of IFI16 and HuR in glioma stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:11741539, PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:11741539, PubMed:9230079). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:29925947). The Arp2/3 complex 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, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants. Publication Status: Online-Only, [RefSeq, PubMed]; Neutrophil motility is regulated by both cell intrinsic and endothelial cell ARPC1B., [RefSeq, PubMed]; Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait? Publication Status: Online-Only, [RefSeq, 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 ARPC1A. 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. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "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": "Q9BU00", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005200 structural constituent of cytoskeleton;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton;GO:0070062 extracellular exosome", "go_biological_process": "GO:0032355 response to estradiol;GO:0043627 response to estrogen;GO:0034314 Arp2/3 complex-mediated actin nucleation", "synthesized_glycan_count": 0, "hit_score": 15.7, "record_id": "O15143-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5K5-1", "uniprot_id": [ { "id": "UCHL5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5K5", "type": "external" } ], "mass": 37607.0, "length": 329, "protein_name": "Ubiquitin carboxyl-terminal hydrolase isozyme L5", "gene_name": "UCHL5", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase isozyme L5 isoform 2", "refseq_ac": [ { "id": "NP_001186190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186190", "type": "external" } ], "gene_names_uniprotkb": "UCHL5; AD-019; CGI-70; UCH37", "gene_names_refseq": "CGI-70; INO80R; UCH-L5; UCH37; UCHL5", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase isozyme L5; 3.4.19.12; UCH-L5; Ubiquitin C-terminal hydrolase UCH37; Ubiquitin thioesterase L5", "protein_names_refseq": "INO80 complex subunit R; ubiquitin C-terminal hydrolase UCH37; ubiquitin carboxyl-terminal esterase L5; ubiquitin carboxyl-terminal hydrolase L5; ubiquitin carboxyl-terminal hydrolase isozyme L5 isoform 2; ubiquitin carboxyl-terminal hydrolase isozyme L5; ubiquitin thioesterase L5", "tax_id": 9606, "disease": "alcohol-associated liver disease (Disease Ontology:DOID:0070658)", "pathway": " (hsa:51377); (R-HSA-2173788); (R-HSA-5689603)", "pathway_count": 3, "publication_count": 115, "publication_id_list": "10519551;10757800;10931946;11158580;11163210;11237011;11278251;12151385;12519765;14701756;14718519;15496141;15781469;16027725;16061177;16402389;16906146;16990800;17139257;17323924;18497827;18922472;19188440;19608861;19758997;19815555;19836345;20061380;20129061;20436459;20805357;20937913;21303910;22045334;22344298;24366607;24714562;24715725;2530630;25418920;25576301;25645385;26154972;26811146;26992070;27600516;27846572;27920218;28063628;28228285;28832583;28834231;28855257;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34171305;34357683;34509645;34932366;35051231;35251023;35318648;35580925;36010968;36215666;36241641;36284347;36328194;36654385;37762005;37938771;38773433;40914422;9215638;9335507;9528852;9790970;9856985", "class_list": "", "function": "Deubiquitinase UCHL5 stabilizes ELK3 to potentiate cancer stemness and tumor progression in pancreatic adenocarcinoma (PAAD)., [RefSeq, PubMed]; MAFG-AS1/MAFG positive feedback loop contributes to cisplatin resistance in bladder urothelial carcinoma through antagonistic ferroptosis., [RefSeq, PubMed]; Protease that specifically cleaves 'Lys-48'-linked polyubiquitin chains. Deubiquitinating enzyme associated with the 19S regulatory subunit of the 26S proteasome. Putative regulatory component of the INO80 complex; however is inactive in the INO80 complex and is activated by a transient interaction of the INO80 complex with the proteasome via ADRM1., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; The TGF-beta/UCHL5/Smad2 Axis Contributes to the Pathogenesis of Placenta Accreta. Publication Status: Online-Only, [RefSeq, PubMed]; UCH37 interacts with Smads and regulates TGF-beta signalling., [RefSeq, PubMed]; UCHL5 promotes hepatocellular carcinoma progression by promoting glycolysis through activating Wnt/beta-catenin pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Upregulation of UCH37 is associated with Uterine Cervical Neoplasms, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q5LJA6;Q5LJA7;Q8TBS4;Q96BJ9;Q9H1W5;Q9P0I3;Q9UQN2", "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": "2.7.11.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.30", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "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:0003723 RNA binding;GO:0004866 endopeptidase inhibitor activity;GO:0070628 proteasome binding;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0060382 regulation of DNA strand elongation;GO:0033044 regulation of chromosome organization;GO:0045880 positive regulation of smoothened signaling pathway;GO:0006281 DNA repair;GO:0006310 DNA recombination", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "Q9Y5K5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60271-1", "uniprot_id": [ { "id": "JIP4_HUMAN", "url": "https://www.uniprot.org/uniprot/O60271", "type": "external" } ], "mass": 146205.0, "length": 1321, "protein_name": "C-Jun-amino-terminal kinase-interacting protein 4", "gene_name": "SPAG9", "organism": "Human", "refseq_name": "C-Jun-amino-terminal kinase-interacting protein 4 isoform 2", "refseq_ac": [ { "id": "NP_001123999", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123999", "type": "external" } ], "gene_names_uniprotkb": "SPAG9; HLC6; HSS; KIAA0516; MAPK8IP4; SYD1", "gene_names_refseq": "CT89; HLC-6; HLC4; HLC6; JIP-4; JIP4; JLP; PHET; PIG6; SPAG9", "protein_names_uniprotkb": "C-Jun-amino-terminal kinase-interacting protein 4; CT89; Cancer/testis antigen 89; HLC-6; Human lung cancer oncogene 6 protein; JIP-4; JLP; JNK-associated leucine-zipper protein; JNK-interacting protein 4; Mitogen-activated protein kinase 8-interacting protein 4; PHET; Proliferation-inducing protein 6; Protein highly expressed in testis; Sperm surface protein; Sperm-associated antigen 9; Sperm-specific protein; Sunday driver 1", "protein_names_refseq": "C-Jun N-terminal kinase protein-associated leucine-zipper protein; C-Jun-amino-terminal kinase-interacting protein 4 isoform 2; C-Jun-amino-terminal kinase-interacting protein 4; JNK interacting protein; JNK/SAPK-associated protein; Max-binding protein; c-Jun NH2-terminal kinase-associated leucine zipper protein; cancer/testis antigen 89; human lung cancer oncogene 6 protein; lung cancer oncogene 4; mitogen-activated protein kinase 8-interacting protein 4; proliferation-inducing gene 6; protein highly expressed in testis; sperm surface protein; sunday driver 1", "tax_id": 9606, "disease": "endometrial cancer (Disease Ontology:DOID:1380); liver cirrhosis (Disease Ontology:DOID:5082); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:9043); (R-HSA-525793)", "pathway_count": 2, "publication_count": 104, "publication_id_list": "10.1101/2023.09.13.557529;10330143;10601328;10805738;11237011;11782431;12391307;12634428;14662895;14743216;15144186;15693750;16112646;17081983;17525332;18220336;18669648;19564926;19644450;19690332;20068231;20160094;21406692;23186163;24275569;24715725;25033008;25576301;25645385;26154972;26992070;27600516;27846572;27862975;27920218;28228285;28832583;28834231;28904123;29146937;29242379;29393594;29493099;29557506;29632046;29632711;29786170;30315122;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33912179;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34319782;34357683;34380828;34405274;34509645;34561969;34932366;35051231;35251023;35494241;35580925;36010968;36241641;36284347;36780531;37217939;37938771;38253038;9069290;9418854;9480848;9786951;9858528;9988769", "class_list": "", "function": "An HLA-G/SPAG9/STAT3 axis promotes brain metastases., [RefSeq, PubMed]; Phosphorylation of JIP4 at S730 Presents Antiviral Properties against Influenza A Virus Infection., [RefSeq, PubMed]; Significance of cancer testis-associated antigens (SPAG9 and FBXO39) in colon cancer., [RefSeq, PubMed]; Testicular antigen PHET is an auutoantigen recognized by sera from systemic sclerosis (SSc) patients with extensive fibrotic changes; the autoantibody response to PHET is induced by ectopic overexpression of PHET in dermal fibroblasts of SSc patients., [RefSeq, PubMed]; The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module (PubMed:14743216). Regulates lysosomal positioning by acting as an adapter protein which links PIP4P1-positive lysosomes to the dynein-dynactin complex (PubMed:29146937). Assists PIKFYVE selective functionality in microtubule-based endosome-to-TGN trafficking (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; This gene encodes a member of the cancer testis antigen gene family. The encoded protein functions as a scaffold protein that structurally organizes mitogen-activated protein kinases and mediates c-Jun-terminal kinase signaling. This protein also binds to kinesin-1 and may be involved in microtubule-based membrane transport. This protein may play a role in tumor growth and development. Alternate splicing results in multiple transcript variants. [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": 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": 30, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6H8U5;A8MSX0;B4DHH2;O60905;Q3KQU8;Q3MKM7;Q86WC7;Q86WC8;Q8IZX7;Q96II0;Q9H811", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0019894 kinesin binding;GO:0005078 MAP-kinase scaffold activity;GO:0030159 signaling receptor complex adaptor activity;GO:0008432 JUN kinase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0030335 positive regulation of cell migration;GO:0016192 vesicle-mediated transport;GO:0042147 retrograde transport, endosome to Golgi;GO:0032418 lysosome localization", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "O60271-1", "record_type": "protein", "filter_code": "1000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16539-1", "uniprot_id": [ { "id": "MK14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16539", "type": "external" } ], "mass": 41293.0, "length": 360, "protein_name": "Mitogen-activated protein kinase 14", "gene_name": "MAPK14", "organism": "Human", "refseq_name": "mitogen-activated protein kinase 14 isoform 1", "refseq_ac": [ { "id": "NP_001306", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306", "type": "external" } ], "gene_names_uniprotkb": "MAPK14; CSBP1; CSBP2; CSBP; CSPB1; MXI2; SAPK2A", "gene_names_refseq": "CSBP1; CSBP2; CSBP; CSPB1; EXIP; MAPK14; Mxi2; PRKM14; PRKM15; RK; SAPK2A; p38ALPHA; p38", "protein_names_uniprotkb": "Mitogen-activated protein kinase 14; 2.7.11.24; CSAID-binding protein; CSBP; Cytokine suppressive anti-inflammatory drug-binding protein; MAP kinase 14; MAP kinase MXI2; MAP kinase p38 alpha; MAPK 14; MAX-interacting protein 2; Mitogen-activated protein kinase p38 alpha; SAPK2a; Stress-activated protein kinase 2a", "protein_names_refseq": "CSAID-binding protein; MAP kinase 14; MAP kinase Mxi2; MAP kinase p38 alpha; MAX-interacting protein 2; cytokine suppressive anti-inflammatory drug binding protein; mitogen-activated protein kinase 14 isoform 1; mitogen-activated protein kinase p38 alpha; p38 MAP kinase; p38 mitogen activated protein kinase; p38alpha Exip; stress-activated protein kinase 2A", "tax_id": 9606, "disease": "colorectal carcinoma (Disease Ontology:DOID:0080199); Alzheimer's disease (Disease Ontology:DOID:10652); osteoporosis (Disease Ontology:DOID:11476); interstitial cystitis (Disease Ontology:DOID:13949); Parkinson's disease (Disease Ontology:DOID:14330); rectum cancer (Disease Ontology:DOID:1993); colon cancer (Disease Ontology:DOID:219); gastric adenocarcinoma (Disease Ontology:DOID:3717); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); nasopharynx carcinoma (Disease Ontology:DOID:9261); diabetic neuropathy (Disease Ontology:DOID:9743)", "pathway": " (hsa:1432); (R-HSA-168638); (R-HSA-171007); (R-HSA-198753); (R-HSA-2151209); (R-HSA-2559580); (R-HSA-418592); (R-HSA-432142); (R-HSA-4420097); (R-HSA-450302); (R-HSA-450341); (R-HSA-450604); (R-HSA-525793); (R-HSA-5668599); (R-HSA-6798695); (R-HSA-6804756); (R-HSA-69601); (R-HSA-9662834); (R-HSA-9824585)", "pathway_count": 19, "publication_count": 515, "publication_id_list": 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"class_list": "", "function": "(Microbial infection) Activated by phosphorylation by M.tuberculosis EsxA in T-cells leading to inhibition of IFN-gamma production; phosphorylation is apparent within 15 minutes and is inhibited by kinase-specific inhibitors SB203580 and siRNA (PubMed:21586573)., [UniProtKB, PubMed]; Anadenanthera colubrina regulated LPS-induced inflammation by suppressing NF-kappaB and p38-MAPK signaling pathways. Publication Status: Online-Only, [RefSeq, PubMed]; Involvement of RAMP1/p38MAPK signaling pathway in osteoblast differentiation in response to mechanical stimulation: a preliminary study. Erratum:[J Orthop Surg Res. 2024 Jul 9;19(1):399. doi: 10.1186/s13018-024-04872-z. PMID: 38982512] Publication Status: Online-Only, [RefSeq, PubMed]; P38alpha Mitogen-Activated Protein Kinase-An Emerging Drug Target for the Treatment of Alzheimer's Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Potential diagnostic biomarkers and Mapk14 protein expression: Autophagy-related genes linking immune infiltration in acute respiratory distress syndrome., [RefSeq, PubMed]; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK14 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as pro-inflammatory cytokines or physical stress leading to direct activation of transcription factors. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. Some of the targets are downstream kinases which are activated through phosphorylation and further phosphorylate additional targets. RPS6KA5/MSK1 and RPS6KA4/MSK2 can directly phosphorylate and activate transcription factors such as CREB1, ATF1, the NF-kappa-B isoform RELA/NFKB3, STAT1 and STAT3, but can also phosphorylate histone H3 and the nucleosomal protein HMGN1 (PubMed:9687510, PubMed:9792677). RPS6KA5/MSK1 and RPS6KA4/MSK2 play important roles in the rapid induction of immediate-early genes in response to stress or mitogenic stimuli, either by inducing chromatin remodeling or by recruiting the transcription machinery (PubMed:9687510, PubMed:9792677). On the other hand, two other kinase targets, MAPKAPK2/MK2 and MAPKAPK3/MK3, participate in the control of gene expression mostly at the post-transcriptional level, by phosphorylating ZFP36 (tristetraprolin) and ELAVL1, and by regulating EEF2K, which is important for the elongation of mRNA during translation. MKNK1/MNK1 and MKNK2/MNK2, two other kinases activated by p38 MAPKs, regulate protein synthesis by phosphorylating the initiation factor EIF4E2 (PubMed:11154262). MAPK14 also interacts with casein kinase II, leading to its activation through autophosphorylation and further phosphorylation of TP53/p53 (PubMed:10747897). In the cytoplasm, the p38 MAPK pathway is an important regulator of protein turnover. For example, CFLAR is an inhibitor of TNF-induced apoptosis whose proteasome-mediated degradation is regulated by p38 MAPK phosphorylation. In a similar way, MAPK14 phosphorylates the ubiquitin ligase SIAH2, regulating its activity towards EGLN3 (PubMed:17003045). MAPK14 may also inhibit the lysosomal degradation pathway of autophagy by interfering with the intracellular trafficking of the transmembrane protein ATG9 (PubMed:19893488). Another function of MAPK14 is to regulate the endocytosis of membrane receptors by different mechanisms that impinge on the small GTPase RAB5A. In addition, clathrin-mediated EGFR internalization induced by inflammatory cytokines and UV irradiation depends on MAPK14-mediated phosphorylation of EGFR itself as well as of RAB5A effectors (PubMed:16932740). Ectodomain shedding of transmembrane proteins is regulated by p38 MAPKs as well. In response to inflammatory stimuli, p38 MAPKs phosphorylate the membrane-associated metalloprotease ADAM17 (PubMed:20188673). Such phosphorylation is required for ADAM17-mediated ectodomain shedding of TGF-alpha family ligands, which results in the activation of EGFR signaling and cell proliferation. Another p38 MAPK substrate is FGFR1. FGFR1 can be translocated from the extracellular space into the cytosol and nucleus of target cells, and regulates processes such as rRNA synthesis and cell growth. FGFR1 translocation requires p38 MAPK activation. In the nucleus, many transcription factors are phosphorylated and activated by p38 MAPKs in response to different stimuli. Classical examples include ATF1, ATF2, ATF6, ELK1, PTPRH, DDIT3, TP53/p53 and MEF2C and MEF2A (PubMed:10330143, PubMed:9430721, PubMed:9858528). The p38 MAPKs are emerging as important modulators of gene expression by regulating chromatin modifiers and remodelers. The promoters of several genes involved in the inflammatory response, such as IL6, IL8 and IL12B, display a p38 MAPK-dependent enrichment of histone H3 phosphorylation on 'Ser-10' (H3S10ph) in LPS-stimulated myeloid cells. This phosphorylation enhances the accessibility of the cryptic NF-kappa-B-binding sites marking promoters for increased NF-kappa-B recruitment. Phosphorylates CDC25B and CDC25C which is required for binding to 14-3-3 proteins and leads to initiation of a G2 delay after ultraviolet radiation (PubMed:11333986). Phosphorylates TIAR following DNA damage, releasing TIAR from GADD45A mRNA and preventing mRNA degradation (PubMed:20932473). The p38 MAPKs may also have kinase-independent roles, which are thought to be due to the binding to targets in the absence of phosphorylation. Protein O-Glc-N-acylation catalyzed by the OGT is regulated by MAPK14, and, although OGT does not seem to be phosphorylated by MAPK14, their interaction increases upon MAPK14 activation induced by glucose deprivation. This interaction may regulate OGT activity by recruiting it to specific targets such as neurofilament H, stimulating its O-Glc-N-acylation. Required in mid-fetal development for the growth of embryo-derived blood vessels in the labyrinth layer of the placenta. Also plays an essential role in developmental and stress-induced erythropoiesis, through regulation of EPO gene expression (PubMed:10943842). Isoform MXI2 activation is stimulated by mitogens and oxidative stress and only poorly phosphorylates ELK1 and ATF2. Isoform EXIP may play a role in the early onset of apoptosis. Phosphorylates S100A9 at 'Thr-113' (PubMed:15905572). Phosphorylates NLRP1 downstream of MAP3K20/ZAK in response to UV-B irradiation and ribosome collisions, promoting activation of the NLRP1 inflammasome and pyroptosis (PubMed:35857590)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 14, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 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"https://www.uniprot.org/uniprot/O15173", "type": "external" } ], "mass": 23818.0, "length": 223, "protein_name": "Membrane-associated progesterone receptor component 2", "gene_name": "PGRMC2", "organism": "Human", "refseq_name": "membrane-associated progesterone receptor component 2", "refseq_ac": [ { "id": "NP_006311", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006311", "type": "external" } ], "gene_names_uniprotkb": "PGRMC2; DG6; PMBP", "gene_names_refseq": "DG6; PGRMC2; PMBP", "protein_names_uniprotkb": "Membrane-associated progesterone receptor component 2; Progesterone membrane-binding protein; Steroid receptor protein DG6", "protein_names_refseq": "membrane-associated progesterone receptor component 2; progesterone membrane binding protein; steroid receptor protein DG6", "tax_id": 9606, "disease": "", "pathway": " (hsa:10424); (R-HSA-8980692); (R-HSA-9013404); (R-HSA-9013405); (R-HSA-9013408); (R-HSA-9013423); (R-HSA-9707616)", "pathway_count": 7, "publication_count": 301, 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"class_list": "", "function": "Deciphering the role of PGRMC2 in the human endometrium during the menstrual cycle and in vitro decidualization using an in vitro approach., [RefSeq, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) Publication Status: Online-Only, [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]; PGRMC2 and HLA-G regulate immune homeostasis in a microphysiological model of human maternal-fetal membrane interface. Publication Status: Online-Only, [RefSeq, PubMed]; Progesterone receptor membrane component 2 is critical for human placental extravillous trophoblast invasion., [RefSeq, PubMed]; Required for the maintenance of uterine histoarchitecture and normal female reproductive lifespan (By similarity). May serve as a universal non-classical progesterone receptor in the uterus (Probable). Intracellular heme chaperone required for delivery of labile, or signaling heme, to the nucleus (By similarity). Plays a role in adipocyte function and systemic glucose homeostasis (PubMed:28111073). In brown fat, which has a high demand for heme, delivery of labile heme in the nucleus regulates the activity of heme-responsive transcriptional repressors such as NR1D1 and BACH1 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; The expression of a novel progesterone-binding protein (hmPR1/PGMRC1) was investigated. Transcripts of this protein have been detected in human sperm., [RefSeq, PubMed]; The role of progesterone receptor membrane component (PGRMC) in the endometrium. 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": 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": 5, "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": "Q569H1", "ec_number_list": [], "go_molecular_function": "GO:0015232 heme transmembrane transporter activity;GO:0003707 nuclear steroid receptor activity;GO:0005496 steroid binding;GO:0020037 heme binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0060612 adipose tissue development", "synthesized_glycan_count": 0, "hit_score": 30.5, "record_id": "O15173-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54727-1", "uniprot_id": [ { "id": "RD23B_HUMAN", "url": "https://www.uniprot.org/uniprot/P54727", "type": "external" } ], "mass": 43171.0, "length": 409, "protein_name": "Lysine-specific demethylase RAD23B", "gene_name": "RAD23B", "organism": "Human", "refseq_name": "lysine-specific demethylase RAD23B isoform 3", "refseq_ac": [ { "id": "NP_001231653", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231653", "type": "external" } ], "gene_names_uniprotkb": "RAD23B", "gene_names_refseq": "HHR23B; HR23B; P58; RAD23B", "protein_names_uniprotkb": "Lysine-specific demethylase RAD23B; 1.14.11.-; HR23B; UV excision repair protein RAD23 homolog B; XP-C repair-complementing complex 58 kDa protein; hHR23B; p58", "protein_names_refseq": "RAD23 homolog B, nucleotide excision repair protein; RAD23, yeast homolog of, B; UV excision repair protein RAD23 homolog B; XP-C repair complementing complex 58 kDa; XP-C repair complementing protein; XP-C repair-complementing complex 58 kDa protein; lysine-specific demethylase RAD23B isoform 3; lysine-specific demethylase RAD23B", "tax_id": 9606, "disease": "", "pathway": " (hsa:5887); (R-HSA-532668); (R-HSA-5689877); (R-HSA-5696394); (R-HSA-5696395)", "pathway_count": 5, "publication_count": 187, "publication_id_list": "10391953;10488153;10526214;10734143;10788335;10873465;10915768;10929008;11007478;11141066;11237011;11278856;11279143;11511374;12080057;12114544;12145188;12509233;12509299;12547395;12732143;12815074;12832454;12944386;14517266;14585839;14742321;15064313;15215856;15220921;15358861;15362974;15590680;15811629;15882621;15885096;15964821;16030353;16055502;16168377;16223728;16253613;16473935;16491090;16678110;16712842;17000769;17081983;17287340;17323924;17466625;17466626;17696782;17882165;17924679;17948053;18452278;18524852;18599482;18614043;18669648;18691976;19056823;19109893;19413330;19415658;19435460;19609301;19651622;19661379;19664994;19664995;19690332;19713942;19940136;19941824;20028083;20068231;20368362;20798892;20855601;20876134;20940148;21135142;21388382;21406692;22081108;22118460;22661428;22967762;23038248;23045548;23186163;23301498;23319653;23352696;23751493;23776089;24275569;24715725;25154395;25502872;25538220;25576301;26042670;26151477;26154972;26611529;26992070;28121444;28218747;28904123;29317506;29351928;29437277;29557506;30315122;30410026;30429286;30455355;31020640;31217245;31373491;31844290;32119511;32157095;32209475;32265295;32350084;32357974;32387766;32488085;32502341;32870666;32897882;32938616;32938750;32983136;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34357683;34433824;34509645;34725712;34931806;35051231;35132862;35138101;35154160;35251023;35318648;35580925;36010968;36215666;36241641;36284347;37938771;38665916;38747592;39302247;39531497;39534244;40596516;40914422;7559382;7700386;8168482;8692841;9130708;9372924;9699634;9716411;9734359;9771713", "class_list": "", "function": "HDAC6 Inhibition Releases HR23B to Activate Proteasomes, Expand the Tumor Immunopeptidome and Amplify T-cell Antimyeloma Activity., [RefSeq, PubMed]; Multifunctional protein that participates in histone H4K20 demethylation, DNA repair, ubiquitin-dependent protein degradation and transcriptional regulation (PubMed:10488153, 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). Multiubiquitin chain receptor involved in modulation of proteasomal degradation. Binds to 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:10488153, PubMed:19435460). May play a role in endoplasmic reticulum-associated degradation (ERAD) of misfolded glycoproteins by association with PNGase and delivering deglycosylated proteins to the proteasome (PubMed:15358861). Involved in global genome nucleotide excision repair (GG-NER) by acting as component of the XPC complex, a nucleotide-excision repair complex that is involved in damage sensing during global genome nucleotide excision repair. In vitro, the XPC:RAD23B dimer is sufficient to initiate NER; it preferentially binds to cisplatin and UV-damaged double-stranded DNA. Recognizes a wide spectrum of damaged DNA characterized by distortions of the DNA helix including single-stranded loops, mismatched bubbles or single-stranded overhangs. Cooperatively with CETN2 appears to stabilize XPC (PubMed:10873465, PubMed:12815074, PubMed:9372924)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in the nucleotide excision repair (NER). This protein was found to be a component of the protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-c) cell extracts in vitro. This protein was also shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, and thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 30, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 30, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 30, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 30, "binding_glycan_count": 0, "secondary_ac_list": "B3KWK8;G5E9P0;Q7Z5K8;Q8WUB0", "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": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "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": "3.5.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.52", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "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:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000502 proteasome complex;GO:0071942 XPC complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0032434 regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:0048568 embryonic organ development;GO:0006289 nucleotide-excision repair", "synthesized_glycan_count": 0, "hit_score": 22.0, "record_id": "P54727-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12800-1", "uniprot_id": [ { "id": "TFCP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12800", "type": "external" } ], "mass": 57256.0, "length": 502, "protein_name": "Alpha-globin transcription factor CP2", "gene_name": "TFCP2", "organism": "Human", "refseq_name": "alpha-globin transcription factor CP2 isoform 2", "refseq_ac": [ { "id": "NP_001166923", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166923", "type": "external" } ], "gene_names_uniprotkb": "TFCP2; LSF; SEF", "gene_names_refseq": "LBP1C; LSF1D; LSF; SEF; TFCP2C; TFCP2", "protein_names_uniprotkb": "Alpha-globin transcription factor CP2; SAA3 enhancer factor; Transcription factor LSF", "protein_names_refseq": "SAA3 enhancer factor; alpha-globin transcription factor CP2 isoform 2; alpha-globin transcription factor CP2", "tax_id": 9606, "disease": "", "pathway": " (hsa:7024)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "10455131;11003662;11237011;1732747;19237534;20068231;20682773;23301498;23481700;24275569;24366607;25645385;25892735;26992070;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29314611;29508533;29632046;29632711;29769354;29786170;30315122;30573663;30779550;31844290;32157095;32357974;32387766;32488085;32938616;33141586;33298915;33537174;33592498;33691108;33717175;33936100;33968037;33981976;34171305;34405274;35051231;35580925;36010968;36215666;36241641;36284347;36889372;37061003;37724958;38168093;38607019;7828600;8035790;8114710;8157699", "class_list": "", "function": "Analysis of the Expression of LSF Transcription Factor in the Regulation of Transcription and TSG101 during the Neoplastic Transformation of Endometrial Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Binds a variety of cellular and viral promoters including fibrinogen, alpha-globin, SV40 and HIV-1 promoters. Activation of the alpha-globin promoter in erythroid cells is via synergistic interaction with UBP1 (By similarity). Functions as part of the SSP (stage selector protein) complex. Facilitates the interaction of the gamma-globin genes with enhancer elements contained in the locus control region in fetal erythroid cells. Interacts by binding to the stage selector element (SSE) in the proximal gamma-globin promoter., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Human umbilical cord mesenchymal stem cell-derived extracellular vesicles loaded with TFCP2 activate Wnt/beta-catenin signaling to alleviate preeclampsia., [RefSeq, PubMed]; In the nucleus, acts as a transcription coregulator, enhances promoter binding by TP53, a transcription factor it activates, but reduces the promoter binding by E2F1, a transcription factor it represses. Interacts with STAT3 to affect IL17 secretion in T-helper Th17 cells., [UniProtKB, UniProtKB]; In the plasma membrane, cooperates with CD86 to mediate CD86-signaling in B lymphocytes that regulates the level of IgG1 produced through the activation of distal signaling intermediates. Upon CD40 engagement, required to activate NF-kappa-B signaling pathway via phospholipase C and protein kinase C activation., [UniProtKB, UniProtKB]; Multi-omic and functional analysis for classification and treatment of sarcomas with FUS-TFCP2 or EWSR1-TFCP2 fusions. Publication Status: Online-Only, [RefSeq, PubMed]; Protein with pleiotropic attributes mediated in a cell-compartment- and tissue-specific manner, which include the plasma membrane-associated cell signaling functions, mitochondrial chaperone, and transcriptional co-regulator of transcription factors in the nucleus. Plays a role in adipose tissue and glucose homeostasis in a sex-specific manner. Contributes to pulmonary vascular remodeling by accelerating proliferation of pulmonary arterial smooth muscle cells., [UniProtKB, UniProtKB]; TFCP2 is a transcriptional regulator of heparan sulfate assembly and melanoma cell growth., [RefSeq, PubMed]; This gene encodes a transcription factor that binds the alpha-globin promoter and activates transcription of the alpha-globin gene. The encoded protein regulates erythroid gene expression, plays a role in the transcriptional switch of globin gene promoters, and it activates many other cellular and viral gene promoters. The gene product interacts with certain inflammatory response factors, and polymorphisms of this gene may be involved in the pathogenesis of Alzheimer's disease. [provided by RefSeq, Mar 2010]., [RefSeq]; Transcription factor cellular promoter 2 is required for upstream binding protein 1 -mediated angiogenesis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "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": "A8K5E9;Q12801;Q9UD75;Q9UD77", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008134 transcription factor 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:0000785 chromatin;GO:0032991 protein-containing complex;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0042789 mRNA transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0071897 DNA biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q12800-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94972-1", "uniprot_id": [ { "id": "TRI37_HUMAN", "url": "https://www.uniprot.org/uniprot/O94972", "type": "external" } ], "mass": 107906.0, "length": 964, "protein_name": "E3 ubiquitin-protein ligase TRIM37", "gene_name": "TRIM37", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM37 isoform a", "refseq_ac": [ { "id": "NP_001005207", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005207", "type": "external" } ], "gene_names_uniprotkb": "TRIM37; KIAA0898; MUL; POB1", "gene_names_refseq": "MUL; POB1; TEF3; TRIM37", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM37; 2.3.2.27; Mulibrey nanism protein; RING-type E3 ubiquitin transferase TRIM37; Tripartite motif-containing protein 37", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM37 isoform a; E3 ubiquitin-protein ligase TRIM37; RING-B-box-coiled-coil protein; RING-type E3 ubiquitin transferase TRIM37; mulibrey nanism protein", "tax_id": 9606, "disease": "mulibrey nanism (Disease Ontology:DOID:0050436)", "pathway": " (hsa:4591); (R-HSA-983168)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "10888877;11062501;11237011;11350924;11938494;12646216;12754710;14734113;15108285;15224091;15224092;15571818;15885686;16310976;16595681;16849449;16954532;17081983;17100991;17551331;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;20552988;21865362;22424782;22544926;2261476;23186163;23385855;23481700;23769972;24317724;24715725;25470042;25576301;25645385;26154972;26375851;26697951;27600516;28218747;28228285;28724525;28832583;28855257;29242379;29331515;29351928;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30410026;30429286;30524438;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;35051231;35220664;35318648;35561310;35864973;35921902;36010968;36215666;36241641;37938771;38884661;9380723;9668046", "class_list": "", "function": "E3 ubiquitin-protein ligase required to prevent centriole reduplication (PubMed:15885686, PubMed:23769972). Probably acts by ubiquitinating positive regulators of centriole reduplication (PubMed:23769972). Mediates monoubiquitination of 'Lys-119' of histone H2A (H2AK119Ub), a specific tag for epigenetic transcriptional repression: associates with some Polycomb group (PcG) multiprotein PRC2-like complex and mediates repression of target genes (PubMed:25470042). Also acts as a positive regulator of peroxisome import by mediating monoubiquitination of PEX5 at 'Lys-472': monoubiquitination promotes PEX5 stabilitation by preventing its polyubiquitination and degradation by the proteasome (PubMed:28724525). Has anti-HIV activity (PubMed:24317724)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Liver pathology and biochemistry in patients with mutations in TRIM37 gene (Mulibrey nanism)., [RefSeq, PubMed]; TRIM37 Augments AP-2gamma Transcriptional Activity and Cellular Localization via K63-linked Ubiquitination to Drive Breast Cancer Progression. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM37 interacts with EZH2 to epigenetically suppress PTCH1 and regulate stemness in glioma stem cells through sonic hedgehog pathway., [RefSeq, PubMed]; TRIM37 promotes the aggressiveness of ovarian cancer cells and increases c-Myc expression by binding to HUWE1., [RefSeq, PubMed]; This gene encodes a member of the tripartite motif (TRIM) family, whose members are involved in diverse cellular functions such as developmental patterning and oncogenesis. The TRIM motif includes zinc-binding domains, a RING finger region, a B-box motif and a coiled-coil domain. The RING finger and B-box domains chelate zinc and might be involved in protein-protein and/or protein-nucleic acid interactions. Mutations in this gene are associated with mulibrey (muscle-liver-brain-eye) nanism, an autosomal recessive disorder that involves several tissues of mesodermal origin. TRIM37 localizes in peroxisomal membranes, and has been implicated in human peroxisomal biogenesis disorders. [provided by RefSeq, Jul 2020]., [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": 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": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 34, "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": "A8K0V9;A8K8U4;A8MZ79;B4DGZ3;F8WEE6;Q7Z3E6;Q8IYF7;Q8WYF7", "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:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0050821 protein stabilization;GO:0051865 protein autoubiquitination;GO:0045814 negative regulation of gene expression, epigenetic", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "O94972-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100100001001.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60641-1", "uniprot_id": [ { "id": "AP180_HUMAN", "url": "https://www.uniprot.org/uniprot/O60641", "type": "external" } ], "mass": 92502.0, "length": 907, "protein_name": "Clathrin coat assembly protein AP180", "gene_name": "SNAP91", "organism": "Human", "refseq_name": "clathrin coat assembly protein AP180 isoform a", "refseq_ac": [ { "id": "NP_001229721", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229721", "type": "external" } ], "gene_names_uniprotkb": "SNAP91; KIAA0656", "gene_names_refseq": "AP180; CALM; SNAP91", "protein_names_uniprotkb": "Clathrin coat assembly protein AP180; 91 kDa synaptosomal-associated protein; Clathrin coat-associated protein AP180; Phosphoprotein F1-20", "protein_names_refseq": "91 kDa synaptosomal-associated protein; assembly protein, 180kDa; clathrin coat assembly protein AP180 isoform a; clathrin coat assembly protein AP180; clathrin coat-associated protein AP180; phosphoprotein F1-20; synaptosomal-associated protein, 91kDa homolog; synaptosome associated protein 91kDa", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); middle cerebral artery infarction (Disease Ontology:DOID:3525)", "pathway": " (hsa:9892); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 3, "publication_count": 221, "publication_id_list": "10097102;10436022;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10983987;11071885;11076969;11082044;11231140;11237011;11239472;11247302;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12086608;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12717448;12847086;12944396;12952949;12958364;1317852;14555962;14581451;14617351;14622578;14622579;14662753;14726597;15134832;15252009;15260957;15318165;15339664;15345747;1535555;15473838;15502812;15502813;15649145;15671180;15703209;15728179;15802264;15895077;15916959;16103228;16159959;16215232;16326391;16410077;16459302;16460808;16516836;16707488;16723738;16798879;16880396;16903783;17018281;17035995;17158794;17267500;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17681954;17713526;17762867;17765681;17978091;18032517;18093523;18166656;18199683;18388313;1847920;18775314;18790740;18819912;18981233;19092055;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;23536704;23823722;23861397;23891661;24130457;24186068;24384571;24581490;24680432;24715725;24746795;24789820;24966051;25107275;25303366;25341920;25892735;26042225;26204806;26403691;26412491;26829388;27397612;27574975;28657654;28834231;2890644;29485866;29557506;30429286;31154438;31844290;31848261;34019948;3417785;34357683;35051231;38838015;6146630;7569928;7822302;7877694;8524399;8552632;8553074;8837779;9092476;9100026;9169477;9303539;9427626;9428629;9502801;9635431;9723620;9736607;9756352;9812899", "class_list": "", "function": "Adaptins are components of the adapter complexes which link clathrin to receptors in coated vesicles. Clathrin-associated protein complexes are believed to interact with the cytoplasmic tails of membrane proteins, leading to their selection and concentration. Binding of AP180 to clathrin triskelia induces their assembly into 60-70 nm coats (By similarity)., [UniProtKB]; Intrinsically disordered domains are highly potent drivers of membrane curvature Publication Status: Online-Only, [RefSeq, PubMed]; Study concludes that the novel clathrin interaction sites identified here in CALM and AP180 have a major role in how these proteins interface with clathrin. This work advances the case that AP180 and CALM are required to use a combination of standard clathrin N-terminal domain binding motifs and the sequence identified here for optimal binding and assembling clathrin. Publication Status: Online-Only, [RefSeq, PubMed]; To sustain efficient neurotransmission and synaptic vesicle formation, AP180 and VAMP2 are required., [RefSeq, PubMed]", "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": 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": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "A8K0L7;E5RI02;Q5JX13;Q68DL9;Q6P9D3;Q9NTY7", "ec_number_list": [], "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0019901 protein kinase binding;GO:0005545 1-phosphatidylinositol binding;GO:0000149 SNARE binding;GO:0032050 clathrin heavy chain binding", "go_cellular_component": "GO:0005905 clathrin-coated pit;GO:0030136 clathrin-coated vesicle;GO:0008021 synaptic vesicle;GO:0098894 extrinsic component of presynaptic endocytic zone membrane;GO:0005886 plasma membrane", "go_biological_process": "GO:0015031 protein transport;GO:2000369 regulation of clathrin-dependent endocytosis;GO:0006900 vesicle budding from membrane;GO:0048268 clathrin coat assembly;GO:0072583 clathrin-dependent endocytosis", "synthesized_glycan_count": 0, "hit_score": 23.1, "record_id": "O60641-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49419-1", "uniprot_id": [ { "id": "AL7A1_HUMAN", "url": "https://www.uniprot.org/uniprot/P49419", "type": "external" } ], "mass": 58487.0, "length": 539, "protein_name": "Alpha-aminoadipic semialdehyde dehydrogenase", "gene_name": "ALDH7A1", "organism": "Human", "refseq_name": "alpha-aminoadipic semialdehyde dehydrogenase isoform 1 precursor", "refseq_ac": [ { "id": "NP_001173", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001173", "type": "external" } ], "gene_names_uniprotkb": "ALDH7A1; ATQ1", "gene_names_refseq": "ALDH7A1; ATQ1; EPD; EPEO4; PDE", "protein_names_uniprotkb": "Alpha-aminoadipic semialdehyde dehydrogenase; 1.2.1.31; 1.2.1.3; 1.2.1.8; Aldehyde dehydrogenase family 7 member A1; Alpha-AASA dehydrogenase; Antiquitin-1; Betaine aldehyde dehydrogenase; Delta1-piperideine-6-carboxylate dehydrogenase; P6c dehydrogenase", "protein_names_refseq": "26g turgor protein homolog; P6c dehydrogenase; alpha-AASA dehydrogenase; alpha-aminoadipic semialdehyde dehydrogenase isoform 1 precursor; alpha-aminoadipic semialdehyde dehydrogenase; antiquitin-1; betaine aldehyde dehydrogenase; delta1-piperideine-6-carboxylate dehydrogenase; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "early-onset vitamin B6-dependent epilepsy 4 (Disease Ontology:DOID:0070519); pyridoxine-dependent epilepsy (Disease Ontology:DOID:0080768); epilepsy (Disease Ontology:DOID:1826); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:501); (R-HSA-6798163); (R-HSA-71064)", "pathway_count": 3, "publication_count": 84, "publication_id_list": "10444331;10642506;10767172;10775527;10966938;11083877;11231903;11237011;12126930;12951056;14429690;15274622;16491085;16729965;17068770;17242435;18056995;18056996;18775954;19128417;19236841;19357133;19885858;20068231;20207735;20554659;21338592;22223895;22241472;22825317;24043460;25554827;25931162;26232297;26260980;26811146;26992070;27397612;27486859;27600516;27846572;27862975;28832583;28834231;29242379;29393594;29557506;29786170;30484775;30524438;31154438;31217245;31222486;31302938;31492851;31652343;31844290;31848261;32157095;32488085;32897882;32938616;33124720;33465208;33592498;33968037;34078123;34509645;34725712;34932366;35051231;35580925;35613852;36215666;36241641;36284347;38604394;38665916;40233740;40596516;6163778;6434529;8088832;9417906", "class_list": "", "function": "ALDH7A1 is a novel aldehyde dehydrogenase expressed in multiple subcellular compartments that protects against hyperosmotic stress by generating osmolytes and metabolizing toxic aldehydes, [RefSeq, PubMed]; Acts as a key inhibitor of ferroptosis both by generating membrane NADH and decreasing the level of reactive aldehydes (PubMed:40233740). Recruited to plasma membrane in response to ferroptotic stress and phosphorylation by AMPK, generating membrane NADH to support AIFM2/FSP1 activity, an essential ferroptosis suppressor protein (PubMed:40233740). Also directly inhibits ferroptosis by decreasing lipid peroxidation via consumption of reactive aldehydes, such as 4-hydroxynonenal (4-HNE) and malonaldehyde (PubMed:40233740). Also acts as a regulator of cellular energy homeostasis in response to cellular energy stress, such as starvation and hypoxia, by inhibiting COPI-mediated intracellular transport, thereby reducing cellular energy consumption (PubMed:31492851)., [UniProtKB, PubMed, PubMed]; Aldehyde dehydrogenase enzyme that mediates important protective effects (PubMed:16491085, PubMed:20207735, PubMed:20554659, PubMed:21338592, PubMed:25554827, PubMed:31302938, PubMed:31652343, PubMed:38604394, PubMed:40233740). Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes (PubMed:16491085, PubMed:20207735, PubMed:21338592, PubMed:40233740). Involved in cellular defense against hyperosmotic stress by metabolizing betaine aldehyde to betaine, an important cellular osmolyte and methyl donor (PubMed:20207735)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Antiquitin was present not only in the cytosol but also in the mitochondria., [RefSeq, PubMed]; Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1., [RefSeq, PubMed]; Involved in lysine catabolism in the brain by mediating the conversion of L-aminoadipate-semialdehyde ((S)-2-amino-6-oxohexanoate) to L-2-aminoadipate., [UniProtKB, PubMed, PubMed]; The impact of ALDH7A1 variants in oral cancer development and prognosis., [RefSeq, PubMed]; The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [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": 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": 16, "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": "B2R669;B4DIC7;B4DMA0;E7EPT3;O14619;Q6IPU8;Q9BUL4", "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:0042802 identical protein binding;GO:0004029 aldehyde dehydrogenase (NAD+) activity;GO:0004043 L-aminoadipate-semialdehyde dehydrogenase [NAD(P)+] activity;GO:0008802 betaine-aldehyde dehydrogenase (NAD+) activity;GO:0016655 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0006554 lysine catabolic process;GO:0097009 energy homeostasis;GO:0006081 aldehyde metabolic process;GO:0008333 endosome to lysosome transport;GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "P49419-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95831-1", "uniprot_id": [ { "id": "AIFM1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95831", "type": "external" } ], "mass": 66901.0, "length": 613, "protein_name": "Apoptosis-inducing factor 1, mitochondrial", "gene_name": "AIFM1", "organism": "Human", "refseq_name": "apoptosis-inducing factor 1, mitochondrial isoform AIFsh", "refseq_ac": [ { "id": "NP_001124318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124318", "type": "external" } ], "gene_names_uniprotkb": "AIFM1; AIF; PDCD8", "gene_names_refseq": "AIFM1; AIF; AUNX1; CMT2D; CMTX4; COWCK; COXPD6; DFNX5; NADMR; NAMSD; PDCD8; SEMDHL", "protein_names_uniprotkb": "Apoptosis-inducing factor 1, mitochondrial; 1.6.99.-; Programmed cell death protein 8", "protein_names_refseq": "apoptosis-inducing factor 1, mitochondrial isoform AIFsh; apoptosis-inducing factor 1, mitochondrial; apoptosis-inducing factor, mitochondrion-associated, 1; auditory neuropathy, X-linked recessive 1; programmed cell death 8 (apoptosis-inducing factor); striatal apoptosis-inducing factor; testicular secretory protein Li 4", "tax_id": 9606, "disease": "mitochondrial complex I deficiency (Disease Ontology:DOID:0060536); Charcot-Marie-Tooth disease X-linked recessive 4 (Disease Ontology:DOID:0110212); dilated cardiomyopathy 1H (Disease Ontology:DOID:0110429); combined oxidative phosphorylation deficiency 6 (Disease Ontology:DOID:0111502); X-linked deafness 5 (Disease Ontology:DOID:0111741); retinitis pigmentosa (Disease Ontology:DOID:10584); Alzheimer's disease (Disease Ontology:DOID:10652); transient cerebral ischemia (Disease Ontology:DOID:224); middle cerebral artery infarction (Disease Ontology:DOID:3525); retinal detachment (Disease Ontology:DOID:5327); spondyloepimetaphyseal dysplasia, Bieganski type (MONDO:MONDO:0010275)", "pathway": " (hsa:9131)", "pathway_count": 1, "publication_count": 102, "publication_id_list": "10913597;11237011;12198487;15775970;16365034;16644725;17094969;17967870;18669648;18691976;19418225;20068231;20111043;20362274;21364629;22019070;22103349;22869377;23186163;23217327;24275569;24914854;25418920;25505266;25576301;25583628;25645385;25934856;25986071;26004228;26154972;26173962;26375851;26929215;26992070;27178839;27600516;27818101;28218747;28228285;28649982;28832583;28842795;28904123;29242379;29331515;29351928;29437277;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30444036;30833945;31154438;31222486;31530632;31611695;31844290;31848261;31998317;32119511;32157095;32350084;32488085;32502341;32897882;32938616;32983136;33168626;33592498;33633747;33867848;33912179;33968037;33981976;34087483;34171305;34357683;34725712;34932366;35051231;35251023;35580925;36215666;36241641;36284347;36581221;37365177;37938771;38043402;38449065;38665916;40596516;40914422;9989411", "class_list": "", "function": "AIF short (AIFsh), a new pro-apoptotic isoform of AIF, reveals that the first N-terminal 352 amino acids of AIF are not required for its apoptotic activity., [RefSeq, PubMed]; AIF translocation into nucleus caused by Aifm1 R450Q mutation: generation and characterization of a mouse model for AUNX1., [RefSeq, PubMed]; AIFM1 mutation is associated with severe X-linked mitochondrial encephalomyopathy., [RefSeq, PubMed]; Functions both as NADH oxidoreductase and as regulator of apoptosis (PubMed:17094969, PubMed:20362274, PubMed:23217327, PubMed:33168626). In response to apoptotic stimuli, it is released from the mitochondrion intermembrane space into the cytosol and to the nucleus, where it functions as a proapoptotic factor in a caspase-independent pathway (PubMed:20362274). Release into the cytoplasm is mediated upon binding to poly-ADP-ribose chains (By similarity). The soluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e. caspase-independent fragmentation of chromosomal DNA (PubMed:20362274). Binds to DNA in a sequence-independent manner (PubMed:27178839). Interacts with EIF3G, and thereby inhibits the EIF3 machinery and protein synthesis, and activates caspase-7 to amplify apoptosis (PubMed:17094969). Plays a critical role in caspase-independent, pyknotic cell death in hydrogen peroxide-exposed cells (PubMed:19418225). In contrast, participates in normal mitochondrial metabolism. Plays an important role in the regulation of respiratory chain biogenesis by interacting with CHCHD4 and controlling CHCHD4 mitochondrial import (PubMed:26004228)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Functions both as NADH oxidoreductase and as regulator of apoptosis. In response to apoptotic stimuli, it is released from the mitochondrion intermembrane space into the cytosol and to the nucleus, where it functions as a proapoptotic factor in a caspase-independent pathway. Release into the cytoplasm is mediated upon binding to poly-ADP-ribose chains. The soluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e. caspase-independent fragmentation of chromosomal DNA. Binds to DNA in a sequence-independent manner. Interacts with EIF3G, and thereby inhibits the EIF3 machinery and protein synthesis, and activates caspase-7 to amplify apoptosis. Plays a critical role in caspase-independent, pyknotic cell death in hydrogen peroxide-exposed cells. In contrast, participates in normal mitochondrial metabolism. Plays an important role in the regulation of respiratory chain biogenesis by interacting with CHCHD4 and controlling CHCHD4 mitochondrial import., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Has NADH oxidoreductase activity. Does not induce nuclear apoptosis., [UniProtKB, PubMed]; Impaired AIF-CHCHD4 interaction and mitochondrial calcium overload contribute to auditory neuropathy spectrum disorder in patient-iPSC-derived neurons with AIFM1 variant. Publication Status: Online-Only, [RefSeq, PubMed]; NADH improves AIF dimerization and inhibits apoptosis in iPSCs-derived neurons from patients with auditory neuropathy spectrum disorder., [RefSeq, PubMed]; Pro-apoptotic isoform., [UniProtKB, PubMed]; The cloning and the biochemical characterization of a new isoform named AIF short 2 (AIFsh2), [RefSeq, PubMed]; This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [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": 11, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 8, "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": "A4QPB4;B1ALN1;B2RB08;D3DTE9;E9PRR0;Q1L6K4;Q1L6K6;Q2QKE4;Q5JUZ7;Q6I9X6;Q9Y3I3;Q9Y3I4", "ec_number_list": [ { "id": "1.6.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.99.-", "type": "external" }, { "id": "1.6.99.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.99.1", "type": "external" } ], "go_molecular_function": "GO:0003954 NADH dehydrogenase activity;GO:0072572 poly-ADP-D-ribose binding;GO:0003677 DNA binding;GO:0046983 protein dimerization activity;GO:0071949 FAD binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0005829 cytosol", "go_biological_process": "GO:0045041 protein import into mitochondrial intermembrane space;GO:0033108 mitochondrial respiratory chain complex assembly;GO:0002931 response to ischemia;GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "O95831-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43184-1", "uniprot_id": [ { "id": "ADA12_HUMAN", "url": "https://www.uniprot.org/uniprot/O43184", "type": "external" } ], "mass": 99542.0, "length": 909, "protein_name": "Disintegrin and metalloproteinase domain-containing protein 12", "gene_name": "ADAM12", "organism": "Human", "refseq_name": "disintegrin and metalloproteinase domain-containing protein 12 isoform 4 preproprotein", "refseq_ac": [ { "id": "NP_001275903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275903", "type": "external" } ], "gene_names_uniprotkb": "ADAM12; MLTN; PRO545", "gene_names_refseq": "ADAM12-OT1; ADAM12; CAR10; MCMPMltna; MCMP; MLTNA; MLTN", "protein_names_uniprotkb": "Disintegrin and metalloproteinase domain-containing protein 12; 3.4.24.-; ADAM 12; Meltrin-alpha", "protein_names_refseq": "disintegrin and metalloproteinase domain-containing protein 12 isoform 4 preproprotein; disintegrin and metalloproteinase domain-containing protein 12; meltrin-alpha; metalloprotease-disintegrin 12 transmembrane", "tax_id": 9606, "disease": "osteoarthritis (Disease Ontology:DOID:8398)", "pathway": " (hsa:8038); (R-HSA-177929); (R-HSA-8941237)", "pathway_count": 3, "publication_count": 30, "publication_id_list": "10831617;11237011;12615925;12975309;15574124;1688559;16959974;18621736;2022652;21618342;23090970;23680494;23912460;24190977;2543678;28832583;31075398;32157095;32938616;33592498;36010968;36241641;37217939;37751246;37864886;38892056;8639530;8845374;9417060;9642263", "class_list": "", "function": "ADAM12-Generated Basigin Ectodomain Binds beta1 Integrin and Enhances the Expression of Cancer-Related Extracellular Matrix Proteins. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in skeletal muscle regeneration, specifically at the onset of cell fusion. Also involved in macrophage-derived giant cells (MGC) and osteoclast formation from mononuclear precursors (By similarity)., [UniProtKB]; MiR-135b-5p targets ADAM12 to suppress invasion and accelerate trophoblast apoptosis in preeclampsia., [RefSeq, PubMed]; Prognostic Impact of FSTL3, ADAM12, and FAT4 in Patients of Colon Cancer: Clinicopathologic Study., [RefSeq, PubMed]; This gene encodes a member of a family of proteins that are 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. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]., [RefSeq]; Understanding of ADAM12 both as a biomarker and a potential drug target could help make significant inroads into both early diagnosis and treatment of disease Review article, [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": 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": 0, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O60470;Q5JRP0;Q5JRP1;Q6P9E3;Q6UWB0", "ec_number_list": [ { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.24.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.86", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008237 metallopeptidase activity;GO:0017124 SH3 domain binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0007155 cell adhesion;GO:0045766 positive regulation of angiogenesis;GO:0007520 myoblast fusion;GO:0007229 integrin-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "O43184-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28332-1", "uniprot_id": [ { "id": "ADH6_HUMAN", "url": "https://www.uniprot.org/uniprot/P28332", "type": "external" } ], "mass": 39073.0, "length": 368, "protein_name": "Alcohol dehydrogenase 6", "gene_name": "ADH6", "organism": "Human", "refseq_name": "alcohol dehydrogenase 6 isoform 2", "refseq_ac": [ { "id": "NP_000663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000663", "type": "external" } ], "gene_names_uniprotkb": "ADH6", "gene_names_refseq": "ADH-5; ADH6", "protein_names_uniprotkb": "Alcohol dehydrogenase 6; 1.1.1.1", "protein_names_refseq": "alcohol dehydrogenase 6 isoform 2; aldehyde reductase", "tax_id": 9606, "disease": "", "pathway": " (hsa:130); (R-HSA-71384)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10441588;10631996;10697413;10843999;11237011;16788062;1755855;18196;18491316;1881901;1985938;20616185;224930;22690706;23468174;24275569;270680;27455956;28411811;29557506;31154438;3278908;3365377;35580925;4065146;427099;4504607;4748759;6395883;8074657;9982", "class_list": "", "function": "Alcohol dehydrogenase (PubMed:1755855). Catalyzes the NAD-dependent oxidation of primary alcohols to the corresponding aldehydes (PubMed:1755855). Oxidizes secondary alcohols to the corresponding ketones (By similarity)., [UniProtKB, PubMed, UniProtKB]; Common ADH variants conferred risk for both schizophrenia in African-Americans and autism in European-Americans., [RefSeq, PubMed]; Local structural differences between human class V ADH and other human ADHs includes a for class V ADH unique and conserved Lys51, a position directly involved in the catalytic mechanism in other ADHs, and nine other class V ADH-specific residues. Publication Status: Online-Only, [RefSeq, PubMed]; Results show that polymorphism of ADH6 gene leads to heavy drinking in women., [RefSeq, PubMed]; This gene encodes class V alcohol dehydrogenase, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This gene is expressed in the stomach as well as in the liver, and it contains a glucocorticoid response element upstream of its 5' UTR, which is a steroid hormone receptor binding site. Alternatively spliced 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A0A0A0MS56;B3KS45;Q58F53", "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:0016491 oxidoreductase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0042572 retinol metabolic process;GO:0042573 retinoic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "P28332-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BUZ4-1", "uniprot_id": [ { "id": "TRAF4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BUZ4", "type": "external" } ], "mass": 53543.0, "length": 470, "protein_name": "TNF receptor-associated factor 4", "gene_name": "TRAF4", "organism": "Human", "refseq_name": "TNF receptor-associated factor 4", "refseq_ac": [ { "id": "NP_004286", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004286", "type": "external" } ], "gene_names_uniprotkb": "TRAF4; CART1; MLN62; RNF83", "gene_names_refseq": "CART1; MLN62; RNF83; TRAF4", "protein_names_uniprotkb": "TNF receptor-associated factor 4; 2.3.2.27; Cysteine-rich domain associated with RING and Traf domains protein 1; MLN 62; Metastatic lymph node gene 62 protein; RING finger protein 83", "protein_names_refseq": "MLN 62; RING finger protein 83; TNF receptor-associated factor 4; cysteine-rich domain associated with RING and Traf domains protein 1; cysteine-rich domain associated with ring and TRAF domain; malignant 62; metastatic lymph node gene 62 protein; tumor necrosis receptor-associated factor 4A", "tax_id": 9606, "disease": "lung adenocarcinoma (Disease Ontology:DOID:3910)", "pathway": " (hsa:9618)", "pathway_count": 1, "publication_count": 66, "publication_id_list": "10514511;11237011;12023963;12801526;16052631;16157600;16330715;18087216;18669648;18953416;19664994;19664995;19937093;20068231;20946164;22547678;23186163;23481700;24714562;24715725;26728094;26992070;27600516;27846572;28228285;28514659;28832583;29073066;29242379;29437277;29557506;30315122;30352854;30429286;31076633;31217245;31844290;32157095;32268273;32350084;32357935;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33912179;33968037;33981976;33991522;34357683;34509645;35051231;35580925;36284347;36795185;37006049;38164179;39414598;7490069;7592751;9626059", "class_list": "", "function": "Adapter protein with E3 ligase activity that is involved in many diverse biological processes including cell proliferation, migration, differentiation, DNA repair, platelet activation or apoptosis (PubMed:30352854, PubMed:31076633, PubMed:32268273, PubMed:33991522). Promotes EGFR-mediated signaling by facilitating the dimerization of EGFR and downstream AKT activation thereby promoting cell proliferation (PubMed:30352854). Ubiquitinates SMURF2 through 'Lys-48'-linked ubiquitin chain leading to SMURF2 degradation through the proteasome and subsequently osteogenic differentiation (PubMed:31076633). Promotes 'Lys-63'-mediated ubiquitination of CHK1 which in turn activates cell cycle arrest and activation of DNA repair (PubMed:32357935). In addition, promotes an atypical 'Lys-29'-linked ubiquitination at the C-terminal end of IRS1 which is crucial for insulin-like growth factor (IGF) signal transduction (PubMed:33991522). Regulates activation of NF-kappa-B in response to signaling through Toll-like receptors. Required for normal skeleton development, and for normal development of the respiratory tract (By similarity). Required for activation of RPS6KB1 in response to TNF signaling. Modulates TRAF6 functions. Inhibits adipogenic differentiation by activating pyruvate kinase PKM activity and subsequently the beta-catenin signaling pathway (PubMed:32268273)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TRAF4 Silencing Induces Cell Apoptosis and Improves Retinoic Acid Sensitivity in Human Neuroblastoma., [RefSeq, PubMed]; TRAF4 regulates ubiquitination-modulated survivin turnover and confers radioresistance. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the TNF receptor associated factor (TRAF) family. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. The encoded protein has been shown to interact with neurotrophin receptor, p75 (NTR/NTSR1), and negatively regulate NTR induced cell death and NF-kappa B activation. This protein has been found to bind to p47phox, a cytosolic regulatory factor included in a multi-protein complex known as NAD(P)H oxidase. This protein thus, is thought to be involved in the oxidative activation of MAPK8/JNK. Alternatively spliced transcript variants have been observed but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; USP7 mediates TRAF4 deubiquitination to facilitate the malignant phenotype of ovarian cancer via the RSK4/PI3K/AKT axis., [RefSeq, PubMed]; [TRAF4 promotes lung cancer development by activating tyrosine kinase of EGFR]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O75615;Q14848;Q2KJU4;Q2PJN8", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding;GO:0031996 thioesterase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0045087 innate immune response;GO:0046330 positive regulation of JNK cascade;GO:0006915 apoptotic process;GO:0045860 positive regulation of protein kinase activity", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9BUZ4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60336-1", "uniprot_id": [ { "id": "MABP1_HUMAN", "url": "https://www.uniprot.org/uniprot/O60336", "type": "external" } ], "mass": 163818.0, "length": 1514, "protein_name": "Mitogen-activated protein kinase-binding protein 1", "gene_name": "MAPKBP1", "organism": "Human", "refseq_name": "mitogen-activated protein kinase-binding protein 1 isoform b", "refseq_ac": [ { "id": "NP_001122080", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122080", "type": "external" } ], "gene_names_uniprotkb": "MAPKBP1; JNKBP1; KIAA0596", "gene_names_refseq": "JNKBP-1; JNKBP1; MAPKBP1; NPHP20", "protein_names_uniprotkb": "Mitogen-activated protein kinase-binding protein 1; JNK-binding protein 1; JNKBP-1", "protein_names_refseq": "JNK-binding protein 1; mitogen-activated protein kinase-binding protein 1 isoform b", "tax_id": 9606, "disease": "primary autosomal recessive microcephaly 2 with or without cortical malformations (Disease Ontology:DOID:0070293); nephronophthisis 20 (Disease Ontology:DOID:0111127); microcephaly (Disease Ontology:DOID:10907); high grade glioma (Disease Ontology:DOID:3070)", "pathway": " (hsa:23005)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "11237011;15491607;22700971;23186163;23341463;23481700;24366607;25418920;25576301;25645385;26154972;26811146;26929215;26992070;27600516;27862975;27920218;28089251;28228285;28411811;28832583;28834231;28904123;29242379;29508533;29557506;29632046;30315122;30429286;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32505465;32897882;32938616;32983136;33298915;33392160;33537174;33633747;33717175;33912179;33968037;34185709;34357683;34405274;34561969;34932366;35051231;35154160;35318648;35580925;36010968", "class_list": "", "function": "JNKBP1 and NOD2 are co-expressed in the human intestinal epithelium and in immune cells recruited in the lamina propria, which suggests that JNKBP1 contributes to maintain NOD2-mediated intestinal immune homeostasis., [RefSeq, PubMed]; Negative regulator of NOD2 function. It down-regulates NOD2-induced processes such as activation of NF-kappa-B signaling, IL8 secretion and antibacterial response (PubMed:22700971). Involved in JNK signaling pathway (By similarity)., [UniProtKB, UniProtKB, PubMed]; Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment., [RefSeq, PubMed]; This gene encodes a scaffold protein that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing protein 2) signaling pathways. The encoded protein interacts with another related JNK pathway scaffold protein, WDR62, via a conserved dimerization domain, and enhances JNK signaling. This protein may play a role in bacterial immunity by binding to the NOD2 receptor and negatively regulating downstream antibacterial and pro-inflammatory signaling. Mutations in this gene that impair cellular localization of the encoded protein cause a form of nephronophthisis, an autosomal-recessive kidney disorder, in human patients. [provided by RefSeq, May 2017]., [RefSeq]; We identified mutations in MAPKBP1 as a genetic cause of juvenile or late-onset and cilia-independent nephronophthisis. Erratum:[Am J Hum Genet. 2017 Feb 2;100(2):372. doi: 10.1016/j.ajhg.2017.01.025. PMID: 28157543], [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": 13, "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": "A6NM93;A8K8P9;Q14CB5;Q14CD8;Q49AJ8;Q5W9G9", "ec_number_list": [], "go_molecular_function": "GO:0003743 translation initiation factor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0097431 mitotic spindle pole", "go_biological_process": "GO:0046330 positive regulation of JNK cascade;GO:0043124 negative regulation of canonical NF-kappaB signal transduction;GO:0032717 negative regulation of interleukin-8 production;GO:1900425 negative regulation of defense response to bacterium", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "O60336-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16157-1", "uniprot_id": [ { "id": "ANK1_HUMAN", "url": "https://www.uniprot.org/uniprot/P16157", "type": "external" } ], "mass": 206265.0, "length": 1881, "protein_name": "Ankyrin-1", "gene_name": "ANK1", "organism": "Human", "refseq_name": "ankyrin-1 isoform 3", "refseq_ac": [ { "id": "NP_000028", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000028", "type": "external" } ], "gene_names_uniprotkb": "ANK1; ANK", "gene_names_refseq": "ANK1; ANK; SPH1; SPH2; ankyrin-1", "protein_names_uniprotkb": "Ankyrin-1; ANK-1; Ankyrin-R; Erythrocyte ankyrin", "protein_names_refseq": "ANK-1; ankyrin 1, erythrocytic; ankyrin-1 isoform 3; ankyrin-R; erythrocyte ankyrin", "tax_id": 9606, "disease": "hereditary spherocytosis type 1 (Disease Ontology:DOID:0110916); malaria (Disease Ontology:DOID:12365); hereditary spherocytosis (Disease Ontology:DOID:12971); transient cerebral ischemia (Disease Ontology:DOID:224); anemia (Disease Ontology:DOID:2355)", "pathway": " (hsa:286); (R-HSA-445095); (R-HSA-447038); (R-HSA-447041); (R-HSA-447043); (R-HSA-6807878)", "pathway_count": 6, "publication_count": 163, "publication_id_list": "10052452;10318838;10445031;10559959;10679020;10761932;10903204;10921873;11035033;11102985;11152476;11172815;11222639;11237011;11285137;11306556;11461920;11689559;11703931;11726511;11748249;12047556;12070132;12388752;12444090;12456646;12527750;12634853;14654841;14742712;15037235;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16497976;16597699;16633337;16723730;1680566;1689849;16904324;16912714;16926190;16940185;16959974;17223356;17253781;17274799;17360540;17429068;17451557;17760859;17927562;17956946;18086915;18088087;18182008;18283113;18524849;18669648;18809720;18984734;1898986;19015319;19109418;19164740;19296914;19562805;1957170;19631211;19651622;19664994;19758564;20058876;20166139;20357002;20427317;20637885;21177872;21219331;2137557;2141335;21689688;21844168;22013193;22094269;22304919;22310050;23186163;23481700;23839779;24119662;24275569;24806965;25436559;25492864;25576301;25645385;26154972;28228285;28832583;29242379;29331515;29459732;29557506;30315122;30379171;30429286;31092671;31154438;31844290;31848261;32157095;32938616;33968037;34932366;35051231;35154160;35251023;35580925;35835865;36010968;36284347;36336297;36598564;36647015;37341850;37938771;38862513;7665627;7691276;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8640229;8922386;8991093;9114004;9150144;9177194;9235914;9244307;9288971;9323141;9371782;9380700;9382863;9405360;9430667;9490716;9671725;9751720;9804856;9990005", "class_list": "", "function": "A novel splicing mutation of ANK1 is associated with phenotypic heterogeneity of hereditary spherocytosis in a Chinese family., [RefSeq, PubMed]; Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]., [RefSeq]; Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane (PubMed:35835865). Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children by affecting pre-mRNA splicing. Publication Status: Online-Only, [RefSeq, PubMed]; Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans., [RefSeq, PubMed]; Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum., [RefSeq, PubMed]; Together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic reticulum and myofibrils., [UniProtKB, PubMed]; Whole-genome sequencing identifies variants in ANK1, LRRN1, HAS1, and other genes and regulatory regions for stroke in type 1 diabetes. 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": 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": 28, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 53, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A0PJN8;A6NJ23;E5RFL7;O43400;Q13768;Q53ER1;Q59FP2;Q8N604;Q99407", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0019899 enzyme binding;GO:0051117 ATPase binding;GO:0044325 transmembrane transporter binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0072659 protein localization to plasma membrane;GO:0007010 cytoskeleton organization;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006887 exocytosis", "synthesized_glycan_count": 0, "hit_score": 16.9, "record_id": "P16157-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQI0-1", "uniprot_id": [ { "id": "AIF1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQI0", "type": "external" } ], "mass": 17068.0, "length": 150, "protein_name": "Allograft inflammatory factor 1-like", "gene_name": "AIF1L", "organism": "Human", "refseq_name": "allograft inflammatory factor 1-like isoform 3", "refseq_ac": [ { "id": "NP_001172024", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001172024", "type": "external" } ], "gene_names_uniprotkb": "AIF1L; C9orf58; IBA2; PRO1306", "gene_names_refseq": "AIF1L; C9orf58; IBA2", "protein_names_uniprotkb": "Allograft inflammatory factor 1-like; Ionized calcium-binding adapter molecule 2", "protein_names_refseq": "allograft inflammatory factor 1-like isoform 3; ionized calcium binding adapter molecule 2", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612)", "pathway": " (hsa:83543)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11230166;11237011;12975309;18669648;18699778;19664995;20237496;21406692;23186163;29393594;29557506;29726059;29786170;30001384;30429286;30779550;31844290;31848261;32157095;33537174;33968037;33981976;34087483;35051231;35580925;36241641;36284347", "class_list": "", "function": "Actin-binding protein that promotes actin bundling. May neither bind calcium nor depend on calcium for function., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Structure of human Iba2 and its homodimerization properties, F-actin cross-linking activity, cellular localization and recruitment upon bacterial invasion in comparison with Iba1., [RefSeq, PubMed]; These findings indicate an involvement of AIF1L in the stabilization of podocyte morphology by titrating actomyosin contractility and membrane dynamics. Publication Status: Online-Only, [RefSeq, PubMed]; We did not find the AIF1L-ETV6 and ABL1-AIF1L fusions in other ETV6-ABL1-positive ALL. Nevertheless, functional studies would be needed to establish the biological role of AIF1L-ETV6 and ABL1-AIF1L and to determine whether they contribute to leukemogenesis and/or to the final leukemia 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2RBC4;Q6ZR40;Q8NAX7;Q8WU47;Q9H9G0", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton;GO:0070062 extracellular exosome;GO:0032587 ruffle membrane", "go_biological_process": "GO:0051017 actin filament bundle assembly;GO:0097178 ruffle assembly", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9BQI0-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXJ9-1", "uniprot_id": [ { "id": "ASXL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXJ9", "type": "external" } ], "mass": 165432.0, "length": 1541, "protein_name": "Polycomb group protein ASXL1", "gene_name": "ASXL1", "organism": "Human", "refseq_name": "polycomb group protein ASXL1 isoform 1", "refseq_ac": [ { "id": "NP_056153", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056153", "type": "external" } ], "gene_names_uniprotkb": "ASXL1; KIAA0978", "gene_names_refseq": "ASXL1; BOPS; MDS", "protein_names_uniprotkb": "Polycomb group protein ASXL1; Additional sex combs-like protein 1", "protein_names_refseq": "additional sex combs like 1, transcriptional regulator; additional sex combs like transcriptional regulator 1; polycomb group protein ASXL1 isoform 1; putative Polycomb group protein ASXL1", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); chronic myelomonocytic leukemia (Disease Ontology:DOID:0080188); myeloproliferative neoplasm (Disease Ontology:DOID:2226); SM-AHNMD (Disease Ontology:DOID:4797); myelofibrosis (Disease Ontology:DOID:4971); acute myeloid leukemia (Disease Ontology:DOID:9119); Bohring-Opitz syndrome (MONDO:MONDO:0011510)", "pathway": " (hsa:171023); (R-HSA-5689603)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "11237011;12657473;16606617;16906146;17139257;18497827;18669648;19188440;19388938;19815555;19880879;20182461;20436459;20805357;21706002;21740066;23186163;23481700;24634419;2530630;25418920;25576301;25645385;26728094;29493099;29556021;29557506;30397120;30410026;30664650;30982744;31217245;31844290;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33392160;33592498;33691108;33717175;33968037;33981976;34170818;34932366;35051231;35494241;35513511;35580925;36010968;36180891;36284347;36991118;37556531;37921062;38231881;38340948;38359087;38926973;9528852;9790970", "class_list": "", "function": "Altered erythropoiesis via JAK2 and ASXL1 mutations in myeloproliferative neoplasms., [RefSeq, PubMed]; Clonal haematopoiesis of indeterminate potential and atrial fibrillation: an east Asian cohort study., [RefSeq, PubMed]; Comprehensive genomic profiling reveals molecular subsets of ASXL1-mutated myeloid neoplasms. Review article, [RefSeq, PubMed]; Human ASXL1-Mutant Hematopoiesis Is Driven by a Truncated Protein Associated with Aberrant Deubiquitination of H2AK119., [RefSeq, PubMed]; Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG) (PubMed:16606617). Acts as a coactivator of RARA and RXRA through association with NCOA1 (PubMed:16606617). Acts as a corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1) (PubMed:20436459, PubMed:30664650, PubMed:36180891). Acts as a sensor of N(6)-methyladenine methylation on DNA (6mA): recognizes and binds 6mA DNA, leading to its ubiquitination and degradation by TRIP12, thereby inactivating the PR-DUB complex and regulating Polycomb silencing (PubMed:30982744). The PR-DUB complex is an epigenetic regulator of gene expression and acts as a transcriptional coactivator, affecting genes involved in development, cell communication, signaling, cell proliferation and cell viability (PubMed:30664650, PubMed:36180891). ASXL1, ASXL2 and ASXL3 function redundantly in the PR-DUB complex (By similarity) (PubMed:30664650). The ASXL proteins are essential for chromatin recruitment and transcriptional activation of associated genes (By similarity). ASXL1 and ASXL2 are important for BAP1 protein stability (PubMed:30664650). Together with BAP1, negatively regulates epithelial-mesenchymal transition (EMT) of trophoblast stem cells during placental development by regulating genes involved in epithelial cell integrity, cell adhesion and cytoskeletal organization (PubMed:34170818)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]., [RefSeq]; [Relationship between DTA Mutations and Thromboembolism in Patients with Myeloproliferative Neoplasms]., [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": 1, "reported_phosphosites": 3, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 136, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2RP59;Q5JWS9;Q8IYY7;Q9H466;Q9NQF8;Q9UFJ0;Q9UFP8;Q9Y2I4", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0042974 nuclear retinoic acid receptor binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0035517 PR-DUB complex;GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0032526 response to retinoic acid;GO:0009887 animal organ morphogenesis;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q8IXJ9-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46940-1", "uniprot_id": [ { "id": "IQGA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P46940", "type": "external" } ], "mass": 189252.0, "length": 1657, "protein_name": "Ras GTPase-activating-like protein IQGAP1", "gene_name": "IQGAP1", "organism": "Human", "refseq_name": "ras GTPase-activating-like protein IQGAP1", "refseq_ac": [ { "id": "NP_003861", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003861", "type": "external" } ], "gene_names_uniprotkb": "IQGAP1; KIAA0051", "gene_names_refseq": "HUMORFA01; IQGAP1; SAR1; p195", "protein_names_uniprotkb": "Ras GTPase-activating-like protein IQGAP1; p195", "protein_names_refseq": "RasGAP-like with IQ motifs; ras GTPase-activating-like protein IQGAP1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8826); (R-HSA-373753); (R-HSA-381676); (R-HSA-5626467); (R-HSA-5674135); (R-HSA-6798695); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-8980692); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013406); (R-HSA-9013420); (R-HSA-9013424); (R-HSA-9649948); (R-HSA-9656223)", "pathway_count": 20, "publication_count": 665, "publication_id_list": 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"class_list": "", "function": "Coordination of actin plus-end dynamics by IQGAP1, formin, and capping protein., [RefSeq, PubMed]; Deciphering the SOX4/MAPK1 regulatory axis: a phosphoproteomic insight into IQGAP1 phosphorylation and pancreatic Cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; IQGAP1 and NWASP promote human cancer cell dissemination and metastasis by regulating beta1-integrin via FAK and MRTF/SRF., [RefSeq, PubMed]; In silico predicted compound targeting the IQGAP1-GRD domain selectively inhibits growth of human acute myeloid leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a crucial role in regulating the dynamics and assembly of the actin cytoskeleton. Recruited to the cell cortex by interaction with ILK which allows it to cooperate with its effector DIAPH1 to locally stabilize microtubules and allow stable insertion of caveolae into the plasma membrane (By similarity). Binds to activated CDC42 but does not stimulate its GTPase activity. Associates with calmodulin. May promote neurite outgrowth (PubMed:15695813). May play a possible role in cell cycle regulation by contributing to cell cycle progression after DNA replication arrest (PubMed:20883816)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes a member of the IQGAP family. The protein contains four IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. Expression of the protein is upregulated by gene amplification in two gastric cancer cell lines. [provided by RefSeq, Jul 2008]., [RefSeq]; Tight junction protein cingulin variant is associated with cancer susceptibility by overexpressed IQGAP1 and Rac1-dependent epithelial-mesenchymal transition. 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": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 23, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 42, "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": "A7MBM3", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0005096 GTPase activator activity;GO:0005516 calmodulin binding;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule;GO:0005884 actin filament", "go_biological_process": "GO:0007165 signal transduction;GO:0016477 cell migration;GO:0032956 regulation of actin cytoskeleton organization;GO:0043410 positive regulation of MAPK cascade;GO:0071277 cellular response to calcium ion", "synthesized_glycan_count": 0, "hit_score": 67.4, "record_id": "P46940-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00231-1", "uniprot_id": [ { "id": "PSD11_HUMAN", "url": "https://www.uniprot.org/uniprot/O00231", "type": "external" } ], "mass": 47464.0, "length": 422, "protein_name": "26S proteasome non-ATPase regulatory subunit 11", "gene_name": "PSMD11", "organism": "Human", "refseq_name": "26S proteasome non-ATPase regulatory subunit 11", "refseq_ac": [ { "id": "NP_001257411", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257411", "type": "external" } ], "gene_names_uniprotkb": "PSMD11", "gene_names_refseq": "PSMD11; Rpn6; S9; p44.5", "protein_names_uniprotkb": "26S proteasome non-ATPase regulatory subunit 11; 26S proteasome regulatory subunit RPN6; 26S proteasome regulatory subunit S9; 26S proteasome regulatory subunit p44.5", "protein_names_refseq": "26S proteasome non-ATPase regulatory subunit 11; 26S proteasome regulatory subunit 9; 26S proteasome regulatory subunit RPN6; 26S proteasome regulatory subunit S9; 26S proteasome regulatory subunit p44.5; proteasome (prosome, macropain) 26S subunit, non-ATPase, 11", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888)", "pathway": " (hsa:5717); (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": 1062, "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. In the complex, PSMD11 is required for proteasome assembly. Plays a key role in increased proteasome activity in embryonic stem cells (ESCs): its high expression in ESCs promotes enhanced assembly of the 26S proteasome, followed by higher proteasome activity., [UniProtKB, PubMed, PubMed]; PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response., [RefSeq, PubMed]; PSMD11 modulates circadian clock function through PER and CRY nuclear translocation. Publication Status: Online-Only, [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. This gene encodes a member of the proteasome subunit S9 family that functions as a non-ATPase subunit of the 19S regulator and is phosphorylated by AMP-activated protein kinase. Alternatively spliced transcript variants 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": 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": 3, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K3I7;E1P663;O00495;Q53FT5", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0022624 proteasome accessory complex;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0071357 cellular response to type I interferon;GO:0006979 response to oxidative stress;GO:0048863 stem cell differentiation;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0010498 proteasomal protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 106.7, "record_id": "O00231-1", "record_type": "protein", "filter_code": "0001000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13043-1", "uniprot_id": [ { "id": "STK4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13043", "type": "external" } ], "mass": 55630.0, "length": 487, "protein_name": "Serine/threonine-protein kinase 4", "gene_name": "STK4", "organism": "Human", "refseq_name": "serine/threonine-protein kinase 4 isoform 1", "refseq_ac": [ { "id": "NP_006273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006273", "type": "external" } ], "gene_names_uniprotkb": "STK4; KRS2; MST1", "gene_names_refseq": "KRS2; MST1; STK4; YSK3", "protein_names_uniprotkb": "Serine/threonine-protein kinase 4; 2.7.11.1; MST-1; Mammalian STE20-like protein kinase 1; STE20-like kinase MST1; Serine/threonine-protein kinase Krs-2", "protein_names_refseq": "STE20-like kinase MST1; hippo homolog; kinase responsive to stress 2; mammalian STE20-like protein kinase 1; mammalian sterile 20-like 1; serine/threonine-protein kinase 4 isoform 1; serine/threonine-protein kinase 4; serine/threonine-protein kinase Krs-2", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289); cancer (Disease Ontology:DOID:162); carcinoma (Disease Ontology:DOID:305); primary immunodeficiency disease (Disease Ontology:DOID:612); obesity (Disease Ontology:DOID:9970); combined immunodeficiency due to STK4 deficiency (MONDO:MONDO:0013934)", "pathway": " (hsa:6789); (R-HSA-2028269)", "pathway_count": 2, "publication_count": 124, "publication_id_list": "10.1101/2023.09.13.557529;11118213;11237011;11278283;11517310;11805089;12223493;12757711;15109305;15345747;15688006;16510573;16751106;16930133;17085597;17344846;17726016;17932490;17974916;18158288;18212344;18227151;18328708;18452278;18669648;18691976;18707149;18986304;19369195;19415658;19484742;19525978;19690332;19940129;20028971;20068231;20166139;20412773;20850437;20868367;21187284;21199877;21205866;21212262;21224387;21233212;21245099;21406692;21512132;21555462;21832154;22223895;22294732;23186163;23431053;23481700;24275569;24714562;25502872;25576301;25880248;26154972;26375851;26728094;26754738;26992070;27600516;27846572;27920218;28087714;28169360;28218747;28228285;28832583;28834231;29242379;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30429286;30524438;30573663;30833945;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33968037;34171305;34357683;34561969;34932366;35580925;36010968;36284347;37890777;38253038;38295774;38443598;38842136;40914422;7665586;8702870;8816758;9545236", "class_list": "", "function": "Association Study between SNPs in MST1 and MST2 and H. pylori Infection as well as Noncardia Gastric Carcinogenesis., [RefSeq, PubMed]; MST1 knockdown inhibits osteoarthritis progression through Parkin-mediated mitophagy and Nrf2/NF-kappaB signalling pathway., [RefSeq, PubMed]; Smurf1 polyubiquitinates on K285/K282 of the kinases Mst1/2 to attenuate their tumor-suppressor functions., [RefSeq, PubMed]; Stress-activated, pro-apoptotic kinase which, following caspase-cleavage, enters the nucleus and induces chromatin condensation followed by internucleosomal DNA fragmentation. Key component of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. STK3/MST2 and STK4/MST1 are required to repress proliferation of mature hepatocytes, to prevent activation of facultative adult liver stem cells (oval cells), and to inhibit tumor formation (By similarity). Phosphorylates 'Ser-14' of histone H2B (H2BS14ph) during apoptosis. Phosphorylates FOXO3 upon oxidative stress, which results in its nuclear translocation and cell death initiation. Phosphorylates MOBKL1A, MOBKL1B and RASSF2. Phosphorylates TNNI3 (cardiac Tn-I) and alters its binding affinity to TNNC1 (cardiac Tn-C) and TNNT2 (cardiac Tn-T). Phosphorylates FOXO1 on 'Ser-212' and regulates its activation and stimulates transcription of PMAIP1 in a FOXO1-dependent manner. Phosphorylates SIRT1 and inhibits SIRT1-mediated p53/TP53 deacetylation, thereby promoting p53/TP53 dependent transcription and apoptosis upon DNA damage. Acts as an inhibitor of PKB/AKT1. Phosphorylates AR on 'Ser-650' and suppresses its activity by intersecting with PKB/AKT1 signaling and antagonizing formation of AR-chromatin complexes., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The Mst1/2-BNIP3 axis is required for mitophagy induction and neuronal viability under mitochondrial stress., [RefSeq, PubMed]; The protein encoded by this gene is a cytoplasmic kinase that is structurally similar to the yeast Ste20p kinase, which acts upstream of the stress-induced mitogen-activated protein kinase cascade. The encoded protein can phosphorylate myelin basic protein and undergoes autophosphorylation. A caspase-cleaved fragment of the encoded protein has been shown to be capable of phosphorylating histone H2B. The particular phosphorylation catalyzed by this protein has been correlated with apoptosis, and it's possible that this protein induces the chromatin condensation observed in this 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": 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": 26, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 11, "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": "B2RCR8;Q15802;Q4G156;Q5H982;Q6PD60;Q9BR32;Q9NTZ4", "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": "3.4.22.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.56", "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:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016604 nuclear body", "go_biological_process": "GO:1904237 positive regulation of substrate-dependent cell migration, cell attachment to substrate;GO:0001934 positive regulation of protein phosphorylation;GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0033138 positive regulation of peptidyl-serine phosphorylation", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q13043-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16186-1", "uniprot_id": [ { "id": "ADRM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16186", "type": "external" } ], "mass": 42153.0, "length": 407, "protein_name": "Proteasomal ubiquitin receptor ADRM1", "gene_name": "ADRM1", "organism": "Human", "refseq_name": "proteasomal ubiquitin receptor ADRM1 isoform 2", "refseq_ac": [ { "id": "NP_001268366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268366", "type": "external" } ], "gene_names_uniprotkb": "ADRM1; GP110", "gene_names_refseq": "ADRM1; ARM-1; ARM1; GP110; PSMD16", "protein_names_uniprotkb": "Proteasomal ubiquitin receptor ADRM1; 110 kDa cell membrane glycoprotein; ARM-1; Adhesion-regulating molecule 1; Gp110; Proteasome regulatory particle non-ATPase 13; Rpn13 homolog; hRpn13", "protein_names_refseq": "110 kDa cell membrane glycoprotein; M(r) 110,000 surface antigen; adhesion regulating molecule 1; proteasomal ubiquitin receptor ADRM1 isoform 2; proteasomal ubiquitin receptor ADRM1; proteasome regulatory particle non-ATPase 13; proteasome ubiquitin receptor; rpn13 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:11047); (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-9929356); (R-HSA-9929491); (R-HSA-9931269); (R-HSA-9932298); (R-HSA-9954709); (R-HSA-9958825)", "pathway_count": 68, "publication_count": 1052, "publication_id_list": 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"class_list": "", "function": "ARM-1 is a cytosolic protein associated with the plasma membrane. However, no cell surface expression of the protein was observed. These results suggest an indirect role of ARM-1 in adhesion rather than a direct role as an adhesion molecule itself.[ARM-1], [RefSeq, PubMed]; Adrm1 has a specialised role in proteasome function. Identified Adrm1 as a novel component of the regulatory ATPase complex of the 26 S proteasome, [RefSeq, PubMed]; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins (PubMed:16815440, PubMed:16906146, PubMed:16990800, PubMed:17139257, PubMed:18497817, PubMed:24752541, PubMed:25702870, PubMed:25702872). 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 (PubMed:16815440, PubMed:16906146, PubMed:16990800, PubMed:17139257, PubMed:18497817, PubMed:24752541, PubMed:25702870, PubMed:25702872). Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair (PubMed:16815440, PubMed:16906146, PubMed:16990800, PubMed:17139257, PubMed:18497817, PubMed:24752541, PubMed:25702870, PubMed:25702872). Within the complex, functions as a proteasomal ubiquitin receptor (PubMed:18497817). Engages and activates 19S-associated deubiquitinases UCHL5 and PSMD14 during protein degradation (PubMed:16906146, PubMed:16990800, PubMed:17139257, PubMed:24752541). UCHL5 reversibly associate with the 19S regulatory particle whereas PSMD14 is an intrinsic subunit of the proteasome lid subcomplex (PubMed:16906146, PubMed:16990800, PubMed:17139257, PubMed:24752541)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; HRpn13 shapes the proteome and transcriptome through epigenetic factors HDAC8, PADI4, and transcription factor NF-kappaB p50., [RefSeq, PubMed]; LIM Homeobox 2 Increases Adhesion-Regulating Molecule 1 Transcription to Facilitate the Pathological Progression of Oxidized Low-Density Lipoprotein-Stimulated Atherosclerotic Cell Models., [RefSeq, PubMed]; Potential of adhesion-regulating molecule 1 (ADRM1) as a biomarker for patients with renal clear-cell carcinoma or papillary-cell carcinoma., [RefSeq, PubMed]; The high expression of ADRM1 in hepatocellular carcinoma is closely related to tumor immune infiltration and is regulated by miR-891a-5p. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the adhesion regulating molecule 1 protein family. The encoded protein is a component of the proteasome where it acts as a ubiquitin receptor and recruits the deubiquitinating enzyme, ubiquitin carboxyl-terminal hydrolase L5. Increased levels of the encoded protein are associated with increased cell adhesion, which is likely an indirect effect of this intracellular protein. Dysregulation of this gene has been implicated in carcinogenesis. Alternative splicing results in multiple transcript variants. [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": 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": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "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": "A0PKB1;Q96FJ7;Q9H1P2", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0061133 endopeptidase activator activity;GO:0070628 proteasome binding;GO:0140678 molecular function inhibitor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0008021 synaptic vesicle;GO:0000502 proteasome complex;GO:0008541 proteasome regulatory particle, lid subcomplex", "go_biological_process": "GO:0071357 cellular response to type I interferon;GO:0006979 response to oxidative stress;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0010498 proteasomal protein catabolic process;GO:0006368 transcription elongation by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 106.6, "record_id": "Q16186-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A9YTQ3-1", "uniprot_id": [ { "id": "AHRR_HUMAN", "url": "https://www.uniprot.org/uniprot/A9YTQ3", "type": "external" } ], "mass": 75780.0, "length": 697, "protein_name": "Aryl hydrocarbon receptor repressor", "gene_name": "AHRR", "organism": "Human", "refseq_name": "aryl hydrocarbon receptor repressor", "refseq_ac": [ { "id": "NP_001364165", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001364165", "type": "external" } ], "gene_names_uniprotkb": "AHRR; BHLHE77; KIAA1234", "gene_names_refseq": "AHHR; AHH; AHRR; bHLHe77", "protein_names_uniprotkb": "Aryl hydrocarbon receptor repressor; AhR repressor; AhRR; Class E basic helix-loop-helix protein 77; bHLHe77", "protein_names_refseq": "ahR repressor; aryl hydrocarbon hydroxylase regulator; aryl hydrocarbon receptor repressor; class E basic helix-loop-helix protein 77; dioxin receptor repressor", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:57491); (R-HSA-1989781); (R-HSA-211945); (R-HSA-211976); (R-HSA-211981); (R-HSA-8937144)", "pathway_count": 6, "publication_count": 128, "publication_id_list": "10383923;10409767;10445380;10588945;10777541;10945627;11154734;11237011;11259606;11267664;11274138;11422004;11555828;11835227;12118000;12177166;12464245;12505311;12573486;12582161;12629583;12725862;12732646;1351198;14672759;15042513;15067378;15130092;15196988;15350128;15365656;15454734;15474075;15492766;15523003;15535985;15635043;15665333;16084889;16359177;16380219;16614850;16765324;16972786;1708392;17400359;1741400;17559847;17890447;17980155;18000031;18172554;18254726;18256025;18285471;18540824;18719978;18848529;19053771;19088433;19380484;19588076;19661213;19710929;19764817;19934321;20007405;20110263;20149798;20177059;2025243;20422440;20542992;21636783;2256920;22700792;22759865;22772592;22813719;23616950;23953689;24196956;24423752;24677340;24900196;25144769;25218447;25425164;25446851;25923589;2592361;28904176;2897122;3024157;3038528;32152082;32171872;32187464;32205870;32210741;3487786;37150141;37511212;37691855;38051301;39425209;6220203;7217086;7685352;7892212;7903454;7961644;7980644;8619637;8647822;8647857;8975785;8985016;9012850;9169443;9367528;9447995;9536209;9578606;9644715;9653080;9748239;9842986", "class_list": "", "function": "AhRR and PPP1R3C: Potential Prognostic Biomarkers for Serous Ovarian Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Blood Leukocyte AHRR Methylation and Risk of Non-smoking-associated Cancer: A Case-cohort Study of Non-Hodgkin Lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; DNA methylation at AHRR as a master predictor of smoke exposure and a biomarker for sleep and exercise. Publication Status: Online-Only, [RefSeq, PubMed]; Development and validation of a simple general population lung cancer risk model including AHRR-methylation., [RefSeq, PubMed]; Does not repress AHR transcription activity., [UniProtKB, PubMed]; Mediates dioxin toxicity and is involved in regulation of cell growth and differentiation. Represses the transcription activity of AHR by competing with AHR for heterodimer formation with ARNT and subsequently binding to the xenobiotic response element (XRE) sequence present in the promoter regulatory region of a variety of genes. Represses CYP1A1 by binding the XRE sequence and recruiting ANKRA2, HDAC4 and/or HDAC5. Autoregulates its expression by associating with its own XRE site., [UniProtKB, PubMed, PubMed]; Represses AHR transcription activity (PubMed:19380484). Also represses transcription mediated by HIF1A and EPAS1/HIF2A but does not repress NR1I2/PXR or ESR1 transcriptional activities (PubMed:19380484)., [UniProtKB, PubMed]; Results identify aryl hydrocarbon receptor (AHR) repressor (AHRR) Delta8 as the active form of human AHRR and reveal novel aspects of its function and specificity as a repressor of AHR., [RefSeq, PubMed]; The Influence of Smoking and Occupational Risk Factors on DNA Methylation in the AHRR and F2RL3 Genes., [RefSeq, PubMed]; The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A7I2PK40;A7MBN5;D6RAZ1;Q9HAZ3;Q9ULI6", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000976 transcription cis-regulatory region binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0004879 nuclear receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0034751 aryl hydrocarbon receptor complex;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006805 xenobiotic metabolic process;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "A9YTQ3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "C9JRZ8-1", "uniprot_id": [ { "id": "AK1BF_HUMAN", "url": "https://www.uniprot.org/uniprot/C9JRZ8", "type": "external" } ], "mass": 36537.0, "length": 316, "protein_name": "Aldo-keto reductase family 1 member B15", "gene_name": "AKR1B15", "organism": "Human", "refseq_name": "aldo-keto reductase family 1 member B15 isoform a", "refseq_ac": [ { "id": "NP_001074007", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074007", "type": "external" } ], "gene_names_uniprotkb": "AKR1B15", "gene_names_refseq": "AK1R1B7; AKR1B10L; AKR1B15; AKR1R1B7", "protein_names_uniprotkb": "Aldo-keto reductase family 1 member B15; 1.1.1.-; 1.1.1.216; 1.1.1.300; 1.1.1.54; 1.1.1.64; Estradiol 17-beta-dehydrogenase AKR1B15; Farnesol dehydrogenase; Testosterone 17beta-dehydrogenase", "protein_names_refseq": "aldo-keto reductase family 1 member B15 isoform a; estradiol 17-beta-dehydrogenase AKR1B15; farnesol dehydrogenase; putative aldo-keto reductase family 1 member B15; testosterone 17beta-dehydrogenase", "tax_id": 9606, "disease": "", "pathway": " (hsa:441282); (R-HSA-193144)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "11895893;12404296;12697717;16332571;17067289;1825337;19027824;20877624;21276782;2149502;2171939;22277967;22792371;22970857;25577493;26222439;26230928;29557506;31844290;33091337;33912179;33968037;34171305;35051231;35561310;35580925;7336466;8076586;8099587;9783542", "class_list": "", "function": "AKR1B15 and Akr1b16 genes are expressed as functional proteins in human and murine tissues, [RefSeq, PubMed]; AKR1B15.2 localizes to the cytosol and displays no enzymatic activity with the substrates tested., [RefSeq, PubMed]; Amino acid substitutions clustered in loops A and C result in a smaller more hydrophobic and more rigid active site in AKR1B15 compared with the AKR1B10 pocket, consistent with distinct substrate specificity and narrower inhibitor selectivity for AKR1B15. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the NADPH-dependent reduction of a variety of carbonyl substrates, like aromatic aldehydes, alkenals, ketones and alpha-dicarbonyl compounds (PubMed:21276782, PubMed:26222439). In addition, catalyzes the reduction of androgens and estrogens with high positional selectivity (shows 17-beta-hydroxysteroid dehydrogenase activity) as well as 3-keto-acyl-CoAs (PubMed:25577493). Displays strong enzymatic activity toward all-trans-retinal and 9-cis-retinal (PubMed:26222439). May play a physiological role in retinoid metabolism (PubMed:26222439)., [UniProtKB, PubMed, PubMed, PubMed]; Human sperm possess an aldo-keto reductase on their membrane surface and are thus enzymatically protected against reactive aldehyde species both in the male and female reproductive tract, [RefSeq, PubMed]; No oxidoreductase activity observed with the tested substrates., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile 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": 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": "C9J3V2", "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": "1.1.1.62", "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": "1.1.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.51", "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": "1.1.1.225", "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": "1.1.1.210", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.210", "type": "external" }, { "id": "1.1.1.188", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.188", "type": "external" }, { "id": "1.1.1.112", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.112", "type": "external" }, { "id": "1.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.20", "type": "external" }, { "id": "1.1.1.270", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.270", "type": "external" }, { "id": "1.1.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.149", "type": "external" }, { "id": "1.3.1.74", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.74", "type": "external" }, { "id": "1.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.48", "type": "external" }, { "id": "1.1.1.330", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.330", "type": "external" }, { "id": "1.1.1.10", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.10", "type": "external" } ], "go_molecular_function": "GO:0004032 aldose reductase (NADPH) activity;GO:0004303 estradiol 17-beta-dehydrogenase [NAD(P)+] activity;GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;GO:0047045 testosterone dehydrogenase (NADP+) activity;GO:0052650 all-trans-retinol dehydrogenase (NADP+) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006703 estrogen biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "C9JRZ8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54922-1", "uniprot_id": [ { "id": "ADPRH_HUMAN", "url": "https://www.uniprot.org/uniprot/P54922", "type": "external" } ], "mass": 39507.0, "length": 357, "protein_name": "ADP-ribosylhydrolase ARH1", "gene_name": "ADPRH", "organism": "Human", "refseq_name": "ADP-ribosylarginine hydrolase isoform 1", "refseq_ac": [ { "id": "NP_001116", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116", "type": "external" } ], "gene_names_uniprotkb": "ADPRH; ARH1", "gene_names_refseq": "ADPRH; ARH1; hARH1", "protein_names_uniprotkb": "ADP-ribosylhydrolase ARH1; 3.2.2.19; ADP-ribose-L-arginine cleaving enzyme; ADP-ribosylarginine hydrolase; [Protein ADP-ribosylarginine] hydrolase; hARH1", "protein_names_refseq": "ADP-ribose-L-arginine cleaving enzyme; ADP-ribosylarginine hydrolase isoform 1; ADP-ribosylhydrolase ARH1; [Protein ADP-ribosylarginine] hydrolase", "tax_id": 9606, "disease": "", "pathway": " (hsa:141)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;15546898;19407395;25880248;27920218;28228285;28832583;28904123;28963484;29242379;29393594;29786170;30315122;30410026;30429286;30472116;31154438;31599159;31844290;31848261;32157095;32350084;32357974;32938616;33141586;33633747;33912179;34357683;34932366;35051231;35580925;8349667", "class_list": "", "function": "Prerequisite for obtaining well diffracting crystals was the performance of X-ray fluorescence analysis on poorly diffracting apo hARH1 crystals, which revealed the presence of trace amounts of K(+) in the crystal, [RefSeq, PubMed]; Silencing of the putative maternally imprinted tumor suppressor gene ARHI serves as a key early event in follicular thyroid carcinogenesis., [RefSeq, PubMed]; Specifically acts as an arginine mono-ADP-ribosylhydrolase by mediating the removal of mono-ADP-ribose attached to arginine residues on proteins., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes that require DTT for maximal activity, the human enzyme is DTT-independent. Alternatively spliced transcript variants that encode different protein isoforms have been described. [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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2R8H1;D3DN83", "ec_number_list": [ { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.-", "type": "external" }, { "id": "3.2.2.19", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.19", "type": "external" }, { "id": "3.1.1.106", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.106", "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:0000287 magnesium ion binding;GO:0003875 ADP-ribosylarginine hydrolase activity;GO:0030955 potassium ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0036211 protein modification process;GO:0051725 protein de-ADP-ribosylation", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "P54922-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFD2-1", "uniprot_id": [ { "id": "ANKK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFD2", "type": "external" } ], "mass": 84632.0, "length": 765, "protein_name": "Ankyrin repeat and protein kinase domain-containing protein 1", "gene_name": "ANKK1", "organism": "Human", "refseq_name": "ankyrin repeat and protein kinase domain-containing protein 1", "refseq_ac": [ { "id": "NP_848605", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848605", "type": "external" } ], "gene_names_uniprotkb": "ANKK1; PKK2; SGK288", "gene_names_refseq": "ANKK1; PKK2; sgK288", "protein_names_uniprotkb": "Ankyrin repeat and protein kinase domain-containing protein 1; 2.7.11.1; Protein kinase PKK2; SgK288; Sugen kinase 288; X-kinase", "protein_names_refseq": "X-kinase; ankyrin repeat and protein kinase domain-containing protein 1; protein kinase PKK2; sugen kinase 288", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); alexithymia (Disease Ontology:DOID:0060131); mild cognitive impairment (Disease Ontology:DOID:0080832); opioid abuse (Disease Ontology:DOID:11206); alcohol use disorder (Disease Ontology:DOID:1574); alcohol-induced mental disorder (Disease Ontology:DOID:251); opiate dependence (Disease Ontology:DOID:2559); drug dependence (Disease Ontology:DOID:9974); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:255239)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;12151753;12471243;12555236;12605103;14741327;15004565;15146457;17344846;32387766;34171305;34470923;34509645;34932366;35051231;35580925;36043564;36437548;36805080;39409035;39894887", "class_list": "", "function": "ANKK1 Is a Wnt/PCP Scaffold Protein for Neural F-ACTIN Assembly. Publication Status: Online-Only, [RefSeq, PubMed]; Among the aged with cognitive impairments, the homozygous status for the A2 allele of the DRD2 Taq I polymorphism is associated with diminished cognitive performance and increased atrophy in the striatum., [RefSeq, PubMed]; Changes in ANKK1 activity may provide an alternative explanation for previously described associations between the DRD2 Taq1A RFLP and neuropsychiatric disorders such as addiction, [RefSeq, PubMed]; Investigating the association between common DRD2/ANKK1 genetic polymorphisms and schizophrenia: a meta-analysis., [RefSeq, PubMed]; Study suggests that only the TaqI A polymorphism is associated with neuroleptic malignant syndrome, but the -141 C Ins/Del and Ser(9)Gly polymorphisms are not, [RefSeq, PubMed]; Temporomandibular disorder in construction workers associated with ANKK1 and DRD2 genes., [RefSeq, PubMed]; The ANKK1/DRD2 gene TaqIA polymorphism (rs1800497) is associated with the severity of extrapyramidal side effects of haloperidol treatment in CYP2D6 extensive metabolizers with schizophrenia spectrum disorders. Publication Status: Online-Only, [RefSeq, PubMed]; The Addiction-Susceptibility TaqIA/Ankk1 Controls Reward and Metabolism Through D2 Receptor-Expressing Neurons., [RefSeq, PubMed]; The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]., [RefSeq]; There is a lack of association in Japanese patients between neuroleptic malignant syndrome and the TaqI A polymorphism of this gene., [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": 19, "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": "", "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:0004672 protein kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0042995 cell projection", "go_biological_process": "GO:0071300 cellular response to retinoic acid;GO:0010564 regulation of cell cycle process", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q8NFD2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4W6-1", "uniprot_id": [ { "id": "AFG32_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4W6", "type": "external" } ], "mass": 88584.0, "length": 797, "protein_name": "Mitochondrial inner membrane m-AAA protease component AFG3L2", "gene_name": "AFG3L2", "organism": "Human", "refseq_name": "mitochondrial inner membrane m-AAA protease component AFG3L2", "refseq_ac": [ { "id": "NP_006787", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006787", "type": "external" } ], "gene_names_uniprotkb": "AFG3L2", "gene_names_refseq": "AFG3L2; OPA12; SCA28; SPAX5", "protein_names_uniprotkb": "Mitochondrial inner membrane m-AAA protease component AFG3L2; 3.4.24.-; 3.6.-.-; AFG3-like protein 2; Paraplegin-like protein", "protein_names_refseq": "AFG3 ATPase family gene 3-like 2; AFG3 ATPase family member 3-like 2; AFG3 like AAA ATPase 2; AFG3-like protein 2; ATPase family gene 3, yeast; mitochondrial inner membrane m-AAA protease component AFG3L2; paraplegin-like protein", "tax_id": 9606, "disease": "spastic ataxia 5 (Disease Ontology:DOID:0050944); spastic ataxia (Disease Ontology:DOID:0050952); spinocerebellar ataxia 28 (Disease Ontology:DOID:0050977); optic atrophy 12 (Disease Ontology:DOID:0080840); neurodegenerative disease (Disease Ontology:DOID:1289); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:10939); (R-HSA-8949664); (R-HSA-9837999)", "pathway_count": 3, "publication_count": 144, "publication_id_list": "10395799;11237011;11923310;12198491;14623864;15522782;15870080;16115876;17101804;17297443;17579211;17615298;19748354;19841671;20208537;20354562;20725928;22022284;22262461;22354088;22544926;22710082;23201127;23481700;23931759;24055473;24272953;24293060;24315374;24520911;24715725;24814845;25418920;25576301;25892735;26154972;26387735;26454370;26504172;26539208;26677414;26811146;26868664;26923599;26929215;26992070;27397612;27452731;27496948;27499296;27600516;27642048;27737933;27846572;27862975;27920218;28063628;28218747;28228285;28377575;28396416;28449981;28510447;28514659;28660440;28832583;28904123;29053796;29181157;29242379;29301859;29393594;29437277;29545505;29557506;29632046;29769354;29786170;29932645;30120231;30252181;30315122;30379171;30410026;30429286;30484775;30683687;30779550;30833945;31111429;31154438;31217245;31327635;31530632;31695197;31844290;31848261;31937595;31998317;32157095;32219868;32265295;32357974;32387766;32488085;32502341;32548275;32600459;32897882;32938616;32983136;33141586;33257573;33298915;33392160;33717175;33912179;33968037;34087483;34171305;34211107;34357683;34509645;34561969;34704252;34718584;34943861;35051231;35318648;35580925;35870450;35912435;36010968;36215666;36241641;36284347;36629048;37917749;37938771;38157846;38278202;40914422;41075794;7623837", "class_list": "", "function": "AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients., [RefSeq, PubMed]; Autoregulatory control of mitochondrial glutathione homeostasis., [RefSeq, PubMed]; Catalytic component of the m-AAA protease, a protease that plays a key role in proteostasis of inner mitochondrial membrane proteins, and which is essential for axonal and neuron development (PubMed:19748354, PubMed:28396416, PubMed:29932645, PubMed:30683687, PubMed:31327635, PubMed:37917749, PubMed:38157846, PubMed:41075794). AFG3L2 possesses both ATPase and protease activities: the ATPase activity is required to unfold substrates, threading them into the internal proteolytic cavity for hydrolysis into small peptide fragments (PubMed:19748354, PubMed:31327635). The m-AAA protease carries out quality control in the inner membrane of the mitochondria by mediating degradation of mistranslated or misfolded polypeptides (PubMed:26504172, PubMed:30683687, PubMed:34718584). The m-AAA protease complex also promotes the processing and maturation of mitochondrial proteins, such as MRPL32/bL32m, PINK1 and SP7 (PubMed:22354088, PubMed:29932645, PubMed:30252181). Mediates protein maturation of the mitochondrial ribosomal subunit MRPL32/bL32m by catalyzing the cleavage of the presequence of MRPL32/bL32m prior to assembly into the mitochondrial ribosome (PubMed:29932645). Required for SPG7 maturation into its active mature form after SPG7 cleavage by mitochondrial-processing peptidase (MPP) (PubMed:30252181). Required for the maturation of PINK1 into its 52kDa mature form after its cleavage by mitochondrial-processing peptidase (MPP) (PubMed:22354088). Acts as a regulator of calcium in neurons by mediating degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU (PubMed:27642048, PubMed:28396416). Promotes the proteolytic degradation of GHITM upon hyperpolarization of mitochondria: progressive GHITM degradation leads to respiratory complex I degradation and broad reshaping of the mitochondrial proteome by AFG3L2 (PubMed:35912435). Also acts as a regulator of mitochondrial glutathione homeostasis by mediating cleavage and degradation of SLC25A39 (PubMed:37917749, PubMed:38157846). SLC25A39 cleavage is prevented when SLC25A39 binds iron-sulfur (PubMed:37917749, PubMed:38157846). Also acts as a regulator of carnitine biosynthesis by mediating cleavage and degradation of SLC25A45 (PubMed:41075794). Involved in the regulation of OMA1-dependent processing of OPA1 (PubMed:17615298, PubMed:29545505, PubMed:30252181, PubMed:30683687, PubMed:32600459). May act by mediating processing of OMA1 precursor, participating in OMA1 maturation (PubMed:29545505)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Dual regulation of SLC25A39 by AFG3L2 and iron controls mitochondrial glutathione homeostasis., [RefSeq, PubMed]; This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders. [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": 9, "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": "Q6P1L0", "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": "3.4.24.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.64", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "7.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.9", "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": "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": "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:0004222 metalloendopeptidase activity;GO:0005524 ATP binding;GO:0008237 metallopeptidase activity;GO:0008270 zinc ion binding;GO:0051082 unfolded protein binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005745 m-AAA complex;GO:0016020 membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0007409 axonogenesis;GO:0016485 protein processing;GO:0016540 protein autoprocessing;GO:0030163 protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q9Y4W6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BT30-1", "uniprot_id": [ { "id": "ALKB7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BT30", "type": "external" } ], "mass": 24516.0, "length": 221, "protein_name": "RNA demethylase ALKBH7, mitochondrial", "gene_name": "ALKBH7", "organism": "Human", "refseq_name": "RNA demethylase ALKBH7, mitochondrial precursor", "refseq_ac": [ { "id": "NP_115682", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115682", "type": "external" } ], "gene_names_uniprotkb": "ALKBH7; ABH7; PRO34564; SPATA11", "gene_names_refseq": "ABH7; ALKBH7; SPATA11; UNQ6002", "protein_names_uniprotkb": "RNA demethylase ALKBH7, mitochondrial; 1.14.11.-; Alkylated DNA repair protein alkB homolog 7; Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial; Spermatogenesis cell proliferation-related protein; Spermatogenesis-associated protein 11; pre-tRNA N1-methyl adenine demethylase ALKBH7; pre-tRNA N2-dimethyl guanosine demethylase ALKBH7", "protein_names_refseq": "RNA demethylase ALKBH7, mitochondrial precursor; RNA demethylase ALKBH7, mitochondrial; alkB, alkylation repair homolog 7; alkylated DNA repair protein alkB homolog 7; alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial; pre-tRNA N1-methyl adenine demethylase ALKBH7; pre-tRNA N2-dimethyl guanosine demethylase ALKBH7; probable alpha-ketoglutarate-dependent dioxygenase ABH7; spermatogenesis associated 11; spermatogenesis cell proliferation related protein; spermatogenesis-associated protein 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:84266)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;12975309;17979886;20112406;22223895;23666923;24715725;25122757;25418920;25576301;25880248;26811146;27846572;28228285;28231280;28832583;28904123;29242379;29393594;29485866;29632046;30315122;30379171;31217245;31844290;32157095;32357974;32387766;32938616;33298915;33912179;33936100;33968037;34253897;34561969;36215666;36241641;38332576;39400540", "class_list": "", "function": "ALKBH7 possesses the conserved double-stranded beta-helix fold that coordinates a catalytically active iron by a conserved HX(D/E) em leader Xn em leader H motif., [RefSeq, PubMed]; ALKBH7-mediated demethylation regulates mitochondrial polycistronic RNA processing., [RefSeq, PubMed]; Integrative pan-cancer analysis reveals the prognostic and immunotherapeutic value of ALKBH7 in HNSC., [RefSeq, PubMed]; Novel role for a AlkB homolog, human ALKBH7, in programmed necrosis, presenting a new target for therapeutic intervention in cancer cells that are resistant to apoptotic cell death, [RefSeq, PubMed]; Our results uncovered a SNP of ALKBH7, rs7540, which is associated with prostate cancer disease in a statistically significantly manner in two separate cohorts, and maintained in African American men. Publication Status: Online-Only, [RefSeq, PubMed]; RNA demethylase that demethylates N(2)-dimethylguanosine and N(1)-methyladenosine within mitochondrial pre-tRNA regions. This demethylation activity plays a crucial role in regulating the processing of nascent polycistronic mitochondrial RNA, thereby influencing mitochondrial gene expression and overall mitochondrial activity (PubMed:34253897). In response to extensive DNA damage is required for programmed necrosis induced by alkylation and oxidation. Acts by triggering the collapse of mitochondrial membrane potential and loss of mitochondrial function that leads to energy depletion and cell death (PubMed:23666923). Involved in fatty acid metabolism (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Transformed astrocytes confer temozolomide resistance on glioblastoma via delivering ALKBH7 to enhance APNG expression after educating by glioblastoma stem cells-derived exosomes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2R4U9;Q53FF3", "ec_number_list": [ { "id": "1.14.11.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.51", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "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": "1.14.11.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.53", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0016740 transferase activity;GO:1990984 tRNA demethylase activity;GO:0035515 oxidative RNA demethylase activity;GO:0051213 dioxygenase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0006974 DNA damage response;GO:0010883 regulation of lipid storage;GO:1902445 regulation of mitochondrial membrane permeability involved in programmed necrotic cell death;GO:0035513 oxidative RNA demethylation", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9BT30-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00468-1", "uniprot_id": [ { "id": "AGRIN_HUMAN", "url": "https://www.uniprot.org/uniprot/O00468", "type": "external" } ], "mass": 217320.0, "length": 2068, "protein_name": "Agrin", "gene_name": "AGRN", "organism": "Human", "refseq_name": "agrin isoform 2 precursor", "refseq_ac": [ { "id": "NP_940978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940978", "type": "external" } ], "gene_names_uniprotkb": "AGRN; AGRIN", "gene_names_refseq": "AGRIN; AGRN; CMS8; CMSPPD", "protein_names_uniprotkb": "Agrin", "protein_names_refseq": "agrin isoform 2 precursor; agrin proteoglycan", "tax_id": 9606, "disease": "congenital myasthenic syndrome 8 (Disease Ontology:DOID:0110657)", "pathway": " (hsa:375790); (R-HSA-1971475); (R-HSA-2022928); (R-HSA-2024096); (R-HSA-216083); (R-HSA-3000171); (R-HSA-3000178); (R-HSA-3560783); (R-HSA-3560801); (R-HSA-3656237); (R-HSA-3656253); (R-HSA-419037); (R-HSA-4420332); (R-HSA-9694614); (R-HSA-975634); (R-HSA-9769735); (R-HSA-9769739); (R-HSA-9820960); (R-HSA-9833110); (R-HSA-9913351); (R-HSA-9918481); (R-HSA-9918485)", "pathway_count": 22, "publication_count": 513, "publication_id_list": 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"class_list": "glycogene", "function": "AGRN promotes lung adenocarcinoma progression by activating Notch signaling pathway and acts as a therapeutic target., [RefSeq, PubMed]; Association between the 110-kDa C-terminal agrin fragment and skeletal muscle decline among community-dwelling older women., [RefSeq, PubMed]; Bioinformatics-based analysis of the roles of basement membrane-related gene AGRN in systemic lupus erythematosus and pan-cancer development. Publication Status: Online-Only, [RefSeq, PubMed]; Depending on alternative splicing and post-translational modifications, it has a role in different processes, including neuromuscular junction formation and maintenance, and regulation of neurite outgrowth (By similarity). Also involved in positive regulation of cartilage formation through alpha-dystroglycan binding and up-regulation of SOX9 (PubMed:26290588)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Genes encoding agrin (AGRN) and neurotrypsin (PRSS12) are associated with muscle mass, strength and plasma C-terminal agrin fragment concentration., [RefSeq, PubMed]; Heparan sulfate basal lamina glycoprotein that plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ) and directs key events in postsynaptic differentiation. Component of the AGRN-LRP4 receptor complex that induces the phosphorylation and activation of MUSK (PubMed:21969364). The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the transcription of specific genes and the clustering of AChR in the postsynaptic membrane. Calcium ions are required for maximal AChR clustering. AGRN function in neurons is highly regulated by alternative splicing, glycan binding and proteolytic processing. Modulates calcium ion homeostasis in neurons, specifically by inducing an increase in cytoplasmic calcium ions. Functions differentially in the central nervous system (CNS) by inhibiting the alpha(3)-subtype of Na+/K+-ATPase and evoking depolarization at CNS synapses. This secreted isoform forms a bridge, after release from motor neurons, to basal lamina through binding laminin via the NtA domain., [UniProtKB, UniProtKB, PubMed]; Involved in the positive regulation of cartilage formation, acting through alpha-dystroglycan binding and up-regulation of SOX9, a transcription factor that plays a key role in chondrocytes differentiation., [UniProtKB, PubMed]; Is involved in regulation of neurite outgrowth probably due to the presence of the glycosaminoglcan (GAG) side chains of heparan and chondroitin sulfate attached to the Ser/Thr- and Gly/Ser-rich regions. Also involved in modulation of growth factor signaling (By similarity)., [UniProtKB, PubMed, PubMed]; Isoform 1, isoform 4 and isoform 5: neuron-specific (z+) isoforms that contain C-terminal insertions of 8-19 AA are potent activators of AChR clustering. Isoform 5, agrin (z+8), containing the 8-AA insert, forms a receptor complex in myotubules containing the neuronal AGRN, the muscle-specific kinase MUSK and LRP4, a member of the LDL receptor family. The splicing factors, NOVA1 and NOVA2, regulate AGRN splicing and production of the 'z' isoforms., [UniProtKB]; Muscle-specific isoform, probably involved in endothelial cell differentiation., [UniProtKB]; 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 one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]., [RefSeq]; This released fragment is important for agrin signaling and to exert a maximal dendritic filopodia-inducing effect. All 'z' splice variants (z+) of this fragment also show an increase in the number of filopodia., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Transmembrane form that is the predominate form in neurons of the brain, induces dendritic filopodia and synapse formation in mature hippocampal neurons in large part due to the attached glycosaminoglycan chains and the action of Rho-family GTPases., [UniProtKB]", "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": 4, "reported_o_glycosites": 4, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 53, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 53, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 53, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 837, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 122, "disease_count": 1, "glyco_site_count": 60, "binding_glycan_count": 0, "secondary_ac_list": "Q5SVA1;Q5SVA2;Q60FE1;Q7KYS8;Q8N4J5;Q96IC1;Q9BTD4", "ec_number_list": [], "go_molecular_function": "GO:0030548 acetylcholine receptor regulator activity;GO:0005200 structural constituent of cytoskeleton;GO:0043395 heparan sulfate proteoglycan binding;GO:0005509 calcium ion binding;GO:0043236 laminin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005796 Golgi lumen;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0045202 synapse", "go_biological_process": "GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0007213 G protein-coupled acetylcholine receptor signaling pathway;GO:0007399 nervous system development;GO:0007528 neuromuscular junction development", "synthesized_glycan_count": 0, "hit_score": 69.3, "record_id": "O00468-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43707-1", "uniprot_id": [ { "id": "ACTN4_HUMAN", "url": "https://www.uniprot.org/uniprot/O43707", "type": "external" } ], "mass": 104854.0, "length": 911, "protein_name": "Alpha-actinin-4", "gene_name": "ACTN4", "organism": "Human", "refseq_name": "alpha-actinin-4 isoform 1", "refseq_ac": [ { "id": "NP_004915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004915", "type": "external" } ], "gene_names_uniprotkb": "ACTN4", "gene_names_refseq": "ACTININ-4; ACTN4; FSGS1; FSGS", "protein_names_uniprotkb": "Alpha-actinin-4; Non-muscle alpha-actinin 4", "protein_names_refseq": "alpha-actinin-4 isoform 1; focal segmental glomerulosclerosis 1; non-muscle alpha-actinin 4", "tax_id": 9606, "disease": "focal segmental glomerulosclerosis 1 (Disease Ontology:DOID:0111128); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312)", "pathway": " (hsa:81); (R-HSA-114608); (R-HSA-373753)", "pathway_count": 3, "publication_count": 192, "publication_id_list": "10.1101/2023.09.13.557529;10393930;10541305;10611248;10656685;10700177;11237011;11340081;11562357;11733557;12042308;12660326;12668668;12846735;12865409;1435334;14570703;14630798;14633607;15297306;15331416;15545998;15579503;15634346;15772161;15843475;15988023;15994232;16344560;16408927;16525419;16543952;16630808;17289661;17893108;17923684;18033240;18083107;18164029;18436095;19117535;19443634;19608861;19920151;20068231;20112406;20233749;21285374;22351778;22424782;22567897;22689882;22732337;22883232;22967762;23014460;23271734;23301498;23454549;23640497;23783831;23890478;24275569;24714562;24715725;25418920;25502872;25576301;25645385;25810538;25880248;25892735;26012634;26154972;26375851;26768311;26853435;26992070;27397612;27543614;27600516;27726376;27846572;27862975;27920218;28218747;28228285;28411811;28467828;28514659;28832583;28834231;28904123;29242379;29274473;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30001391;30315122;30397120;30410026;30429286;30484775;30524438;30573663;30779550;30833945;31154438;31217245;31222486;31530632;31664084;31844290;31848261;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32870666;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33465208;33532643;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34357683;34405274;34433824;34509645;34561969;34725712;34932366;35008409;35051231;35083852;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37014572;37217939;37626047;37730132;37938771;38299456;38665916;38949978;39534244;39990658;40596516;40914422;6457647;8467233;9508771", "class_list": "", "function": "Actinin-4 controls survival signaling in B cells by limiting the lateral mobility of B-cell antigen receptors., [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, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008]., [RefSeq]; Analysis of the association of NPHS2 and ACTN4 genes polymorphism with nephrotic syndrome in Egyptian children., [RefSeq, PubMed]; Association of ACTN4 Gene Mutation with Primary Nephrotic Syndrome in Children in Guangxi Autonomous Region, China., [RefSeq, PubMed]; F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). Probably 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 (PubMed:15772161). Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions (By similarity). May also function as a transcriptional coactivator, stimulating transcription mediated by the nuclear hormone receptors PPARG and RARA (PubMed:22351778). Association with IGSF8 regulates the immune synapse formation and is required for efficient T-cell activation (PubMed:22689882)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; PHF23 promotes NSCLC proliferation, metastasis, and chemoresistance via stabilization of ACTN4 and activation of the ERK pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Protein tyrosine phosphatase 1B is a regulator of alpha-actinin4 in the glomerular podocyte., [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": 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": 14, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A4K467;D6PXK4;O76048", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0003779 actin binding;GO:0005178 integrin binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0098871 postsynaptic actin cytoskeleton;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0015031 protein transport;GO:0030335 positive regulation of cell migration;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:1901224 positive regulation of non-canonical NF-kappaB signal transduction;GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 19.9, "record_id": "O43707-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43918-1", "uniprot_id": [ { "id": "AIRE_HUMAN", "url": "https://www.uniprot.org/uniprot/O43918", "type": "external" } ], "mass": 57727.0, "length": 545, "protein_name": "Autoimmune regulator", "gene_name": "AIRE", "organism": "Human", "refseq_name": "autoimmune regulator", "refseq_ac": [ { "id": "NP_000374", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000374", "type": "external" } ], "gene_names_uniprotkb": "AIRE; APECED", "gene_names_refseq": "AIRE1; AIRE; APECED; APS1; APSI; PGA1", "protein_names_uniprotkb": "Autoimmune regulator; APECED protein; Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein", "protein_names_refseq": "autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein; autoimmune regulator", "tax_id": 9606, "disease": "autoimmune polyendocrine syndrome type 1 (Disease Ontology:DOID:0050167); Guillain-Barre syndrome (Disease Ontology:DOID:12842); Sjogren's syndrome (Disease Ontology:DOID:12894); autoimmune polyendocrine syndrome (Disease Ontology:DOID:14040); autoimmune disease (Disease Ontology:DOID:417)", "pathway": " (hsa:326)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "10677297;11274163;11275943;11524731;11524733;11533054;11600535;11836330;12050215;12173302;12625412;14974083;15649886;15712268;16114041;17997173;18292755;19293276;19302042;19446523;21102544;23481700;23993652;24715725;26084028;26972725;27426947;32161166;35051231;36010968;38060995;38418155;38473903;39292801;9398839;9398840;9717837;9888391;9931333", "class_list": "", "function": "A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion., [RefSeq, PubMed]; AIRE is expressed in breast cancer TANs and TAMs to regulate the extrinsic apoptotic pathway and inflammation., [RefSeq, PubMed]; Analysis of the AIRE Gene Promoter in Patients Affected by Autoimmune Polyendocrine Syndromes. Publication Status: Online-Only, [RefSeq, PubMed]; Association Between AIRE Polymorphisms rs870881(C>T), rs1003854(T>C) and Rheumatoid Arthritis Risk: A Hungarian Case-control Study., [RefSeq, PubMed]; Mutations of AIRE lead to the failure to eliminate autoreactive T cells, which can lead to clinical autoimmune syndromes. Review article, [RefSeq, PubMed]; This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]., [RefSeq]; Transcription factor playing an essential role to promote self-tolerance in the thymus by regulating the expression of a wide array of self-antigens that have the commonality of being tissue-restricted in their expression pattern in the periphery, called tissue restricted antigens (TRA) (PubMed:26084028). Binds to G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'-ATTGGTTA-3' combined with a 5'-TTATTA-3' box. Binds to nucleosomes (By similarity). Binds to chromatin and interacts selectively with histone H3 that is not methylated at 'Lys-4', not phosphorylated at 'Thr-3' and not methylated at 'Arg-2'. Functions as a sensor of histone H3 modifications that are important for the epigenetic regulation of gene expression. Mainly expressed by medullary thymic epithelial cells (mTECs), induces the expression of thousands of tissue-restricted proteins, which are presented on major histocompatibility complex class I (MHC-I) and MHC-II molecules to developing T-cells percolating through the thymic medulla (PubMed:26084028). Also induces self-tolerance through other mechanisms such as the regulation of the mTEC differentiation program. Controls the medullary accumulation of thymic dendritic cells and the development of regulatory T-cell through the regulation of XCL1 expression. Regulates the production of CCR4 and CCR7 ligands in medullary thymic epithelial cells and alters the coordinated maturation and migration of thymocytes. In thimic B-cells, allows the presentation of licensing-dependent endogenous self-anitgen for negative selection. In secondary lymphoid organs, induces functional inactivation of CD4(+) T-cells. Expressed by a distinct bone marrow-derived population, induces self-tolerance through a mechanism that does not require regulatory T-cells and is resitant to innate inflammatory stimuli (By similarity)., [UniProtKB, 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": 2, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 6, "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": "B2RP50;O43922;O43932;O75745", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016604 nuclear body", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006955 immune response;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0032722 positive regulation of chemokine production", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "O43918-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12235-1", "uniprot_id": [ { "id": "ADT1_HUMAN", "url": "https://www.uniprot.org/uniprot/P12235", "type": "external" } ], "mass": 33064.0, "length": 298, "protein_name": "ADP/ATP translocase 1", "gene_name": "SLC25A4", "organism": "Human", "refseq_name": "ADP/ATP translocase 1", "refseq_ac": [ { "id": "NP_001142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001142", "type": "external" } ], "gene_names_uniprotkb": "SLC25A4; AAC1; ANT1", "gene_names_refseq": "AAC1; ANT 1; ANT1; ANT; MTDPS12A; MTDPS12; PEO2; PEO3; PEOA2; SLC25A4; T1", "protein_names_uniprotkb": "ADP/ATP translocase 1; ADP,ATP carrier protein 1; ADP,ATP carrier protein, heart/skeletal muscle isoform T1; ANT 1; Adenine nucleotide translocator 1; Solute carrier family 25 member 4", "protein_names_refseq": "ADP,ATP carrier protein 1; ADP,ATP carrier protein, heart/skeletal muscle; ADP/ATP carrier 1; ADP/ATP translocase 1; adenine nucleotide translocator 1 (skeletal muscle); adenine nucleotide translocator), member 4; heart/skeletal muscle ATP/ADP translocator; progressive external ophthalmoplegia 2; progressive external ophthalmoplegia 3; solute carrier family 25 (mitochondrial carrier", "tax_id": 9606, "disease": "mitochondrial DNA depletion syndrome 12a (Disease Ontology:DOID:0080130); mitochondrial DNA depletion syndrome 12b (Disease Ontology:DOID:0080335); dilated cardiomyopathy 1H (Disease Ontology:DOID:0110429); autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 (Disease Ontology:DOID:0111517); Alzheimer's disease (Disease Ontology:DOID:10652); facioscapulohumeral muscular dystrophy (Disease Ontology:DOID:11727); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); chronic progressive external ophthalmoplegia (Disease Ontology:DOID:12558); alcoholic cardiomyopathy (Disease Ontology:DOID:12935); epilepsy (Disease Ontology:DOID:1826); mitochondrial myopathy (Disease Ontology:DOID:699); mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:291); (R-HSA-1268020); (R-HSA-166187); (R-HSA-180897); (R-HSA-83936)", "pathway_count": 5, "publication_count": 120, "publication_id_list": "10455109;10620603;10926541;11032837;11237011;11756613;11809823;12056860;12112115;12707443;14726512;15254020;15448143;15644312;15683237;15701636;15792871;16120388;16155110;16185709;16849325;16873718;17510655;18174896;18575922;18678864;18940313;18981177;19368893;19409522;19453276;19608861;19767391;19962426;20593814;20843780;21586654;21750375;22187496;23041349;23173940;23597483;23811401;24196960;24911211;25315652;2541251;2547778;25732997;26154972;2648994;26697887;26811146;27452731;27600516;27641616;27693233;27893789;28218747;2823266;2829183;28510447;28514659;28781081;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632711;30046662;30315122;30429286;30779550;31154438;31341297;31844290;31848261;31883789;31937595;31998317;32157095;32161166;32357974;32502341;32938616;32983136;33141586;33298915;33537174;33691108;33912179;33968037;34171305;34357683;34509645;34561969;34932366;35051231;35154160;35251023;35580925;36010968;36030628;36215666;36241641;36581221;37278158;37336486;37449547;37487137;5840415;5857365;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 (PubMed:21586654, PubMed:27693233, PubMed:23173940, PubMed:30046662). 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). Substrate exchange across the membrane occurs consecutively with one substrate being transported first, then dissociating from the substrate binding site before the second substrate binds for transport in the opposite direction (PubMed:37278158). In addition to its ADP:ATP antiporter activity, also involved in mitochondrial uncoupling and mitochondrial permeability transition pore (mPTP) activity (PubMed:31883789). 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 SLC25A4/ANT1 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:31883789). It is however unclear if SLC25A4/ANT1 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)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; ANT1 overexpression models: Some similarities with facioscapulohumeral muscular dystrophy., [RefSeq, PubMed]; Adenine nucleotide carrier protein dysfunction in human disease. Review article, [RefSeq, PubMed]; Catalyzes the exchange of ADP and ATP across the membrane., [UniProtKB, UniProtKB]; Human mitochondrial ADP/ATP carrier SLC25A4 operates with a ping-pong kinetic mechanism., [RefSeq, PubMed]; Loss of ANT1 Increases Fibrosis and Epithelial Cell Senescence in Idiopathic Pulmonary Fibrosis., [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. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 12, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DP59", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0005471 ATP:ADP antiporter activity;GO:0015207 adenine transmembrane transporter activity;GO:0015078 proton transmembrane transporter activity;GO:0017077 oxidative phosphorylation uncoupler activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:1901526 positive regulation of mitophagy;GO:0006091 generation of precursor metabolites and energy;GO:0046902 regulation of mitochondrial membrane permeability;GO:0015866 ADP transport;GO:0060546 negative regulation of necroptotic process", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "P12235-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17516-1", "uniprot_id": [ { "id": "AK1C4_HUMAN", "url": "https://www.uniprot.org/uniprot/P17516", "type": "external" } ], "mass": 37067.0, "length": 323, "protein_name": "Aldo-keto reductase family 1 member C4", "gene_name": "AKR1C4", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "AKR1C4; CHDR", "gene_names_refseq": "", "protein_names_uniprotkb": "Aldo-keto reductase family 1 member C4; 1.1.1.-; 1.1.1.209; 1.1.1.210; 1.1.1.225; 1.1.1.357; 1.1.1.51; 1.1.1.53; 1.1.1.62; 3-alpha-HSD1; 3-alpha-hydroxysteroid 3-dehydrogenase type I; CDR; Chlordecone reductase; DD-4; DD4; Dihydrodiol dehydrogenase 4; HAKRA", "protein_names_refseq": "", "tax_id": 9606, "disease": "46,XY sex reversal 8 (Disease Ontology:DOID:0111773)", "pathway": " (hsa:1109); (R-HSA-193368); (R-HSA-193775); (R-HSA-193807); (R-HSA-975634)", "pathway_count": 5, "publication_count": 91, "publication_id_list": "10051404;10052934;10092594;10377398;10479480;10588945;10634139;10655068;10672042;10748047;10749848;10769148;10998348;11060341;11060344;11067870;11158055;11181758;11274389;11673457;11980911;12604236;12679481;1279089;1400444;14640697;14672942;1530633;15358783;1542003;15583000;16200213;16939223;1708392;17525477;17644776;18087047;18295589;18460466;18507396;1856611;19014918;19139408;19218247;2019602;21106934;21802064;21851338;2187532;2384150;24106281;24189185;2427522;2793848;29557506;31154438;31844290;31926269;32387766;33592498;33912179;34171305;35051231;35318648;35580925;36284347;3714052;3942763;4345202;5057882;5675424;6420172;6961410;7508385;7626489;7649182;7650035;7683668;8017323;8034703;8172617;8274401;8384721;8387517;8728311;8902629;8943006;9660774;9888420;9920938;9925661", "class_list": "", "function": "Cytosolic aldo-keto reductase that catalyzes NADPH-dependent reduction of ketosteroids to hydroxysteroids. Displays broad substrate specificity with distinct positional and stereochemistry, primarily generating 3alpha/beta-, 17beta- and 20alpha-hydroxysteroids (PubMed:10634139, PubMed:10998348, PubMed:11158055, PubMed:14672942, PubMed:1530633, PubMed:12604236, PubMed:19218247, PubMed:21802064, PubMed:7650035). Required for male sex determination as a component of the 'backdoor' androgen biosynthesis pathway that generates 5alpha-dihydrotestosterone (5alpha-DHT) via pregnanes. Acts together with AKR1C2 to convert 5alpha-dihydroprogesterone (5alpha-DHP) to 3alpha-hydroxy-5alpha-pregnan-20-one (3alpha,5alpha-THP/allopregnanolone), leading to 5alpha-DHT secretion necessary for embryonic gonad differentiation into testis (PubMed:21802064). May regulate the concentrations of circulating neurosteroids. Reduces 5alpha-dihydroprogesterone (5-alpha-DHP) and 5alpha-dihydrodeoxycorticosterone (5-alpha-DHDOC) precursors to 3alpha-hydroxy-5alpha-pregnan-20-one (3alpha,5alpha-THP/allopregnanolone) and 3alpha,21-dihydroxy-5alpha-pregnane-20-one (3alpha,5alpha-THDOC) neuroactive steroids known to alter neural excitability via allosteric activation of gamma-aminobutyric acid type A receptors (GABAAR) (PubMed:12604236). Regulates ligand availability for steroid hormone receptors. Catalyzes the inactivation of 5alpha-DHT and progesterone converting them into 3alpha/beta-androstanediols and (20S)-hydroxypregn-4-en-3-one, respectively (PubMed:10998348, PubMed:11158055, PubMed:14672942). May contribute to the metabolism of adrenal-derived androgens via reduction of 11-keto-5alpha-androstane-3,17-dione (11K-Adione) into 11-ketoandrosterone (11KAST) and of 11-ketodihydrotestosterone (11KDHT) into 11-keto-5alpha-androstane-3alpha/beta,17beta-diol (11K-A3diol) (PubMed:31926269). Catalyzes the reduction of estrone into 17beta-estradiol but with low efficiency (PubMed:14672942). In androgen catabolism, may predominantly act as a phase I enzyme by introducing a hydroxyl group prior to conjugation. It can nevertheless participate in the alternative phase II pathway by directly reducing sulfate- or glucuronide-conjugated androgens (PubMed:19218247). Catalyzes the biotransformation of the pesticide chlordecone (kepone) to its corresponding alcohol, leading to increased biliary excretion of the pesticide and concomitant reduction of its neurotoxicity since bile is the major excretory route (PubMed:2427522). In vitro can efficiently catalyze bidirectional conversion between ketosteroids and hydroxysteroids using NADPH/NADP(+) or NADH/NAD(+) as cofactors. In vivo however, the reductase activity prevails since the major reducing cofactor NADPH inhibits NAD(+)-dependent oxidase activity (PubMed:14672942)., [UniProtKB, 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": 0, "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": "Q5T6A3;Q8WW84;Q9NS54", "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": "1.1.1.62", "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": "1.1.1.315", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.315", "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": "1.1.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.51", "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": "1.1.1.188", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.188", "type": "external" }, { "id": "1.1.1.112", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.112", "type": "external" }, { "id": "1.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.20", "type": "external" }, { "id": "1.1.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.149", "type": "external" }, { "id": "1.1.1.330", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.330", "type": "external" }, { "id": "1.1.1.n12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.n12", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "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:0009055 electron transfer activity;GO:0004032 aldose reductase (NADPH) activity;GO:0001758 retinal dehydrogenase (NAD+) activity;GO:0008106 alcohol dehydrogenase (NADP+) activity;GO:0004303 estradiol 17-beta-dehydrogenase [NAD(P)+] activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0006699 bile acid biosynthetic process;GO:0015721 bile acid and bile salt transport;GO:0006693 prostaglandin metabolic process;GO:0008209 androgen metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "P17516-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35348-1", "uniprot_id": [ { "id": "ADA1A_HUMAN", "url": "https://www.uniprot.org/uniprot/P35348", "type": "external" } ], "mass": 51487.0, "length": 466, "protein_name": "Alpha-1A adrenergic receptor", "gene_name": "ADRA1A", "organism": "Human", "refseq_name": "alpha-1A adrenergic receptor isoform 1", "refseq_ac": [ { "id": "NP_000671", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000671", "type": "external" } ], "gene_names_uniprotkb": "ADRA1A; ADRA1C", "gene_names_refseq": "ADRA1A; ADRA1C; ADRA1L1; ALPHA1AAR", "protein_names_uniprotkb": "Alpha-1A adrenergic receptor; Alpha-1A adrenoceptor; Alpha-1A adrenoreceptor; Alpha-1C adrenergic receptor; Alpha-adrenergic receptor 1c", "protein_names_refseq": "G protein coupled receptor; alpha-1A adrenergic receptor isoform 1; alpha-1A adrenoceptor; alpha-1A adrenoreceptor; alpha-1C adrenergic receptor", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); polycystic ovary syndrome (Disease Ontology:DOID:11612); bladder neck obstruction (Disease Ontology:DOID:13948); alcohol use disorder (Disease Ontology:DOID:1574); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:148); (R-HSA-390696); (R-HSA-416476); (R-HSA-416482)", "pathway_count": 4, "publication_count": 94, "publication_id_list": "10191087;10215710;10321720;10493934;10531390;10567430;10727532;10861009;11015615;11237011;11283606;11294240;11313914;11742120;11753430;12101119;12106601;12120503;12123608;12428542;12433842;12515866;1328250;15179408;15655528;15699075;15749160;15951850;16182515;16212495;16268778;16339447;16480771;16754659;16923326;16959974;17052695;18374420;18434541;18491316;18515384;18577758;18802028;18936096;1905813;19212140;1980236;20871122;21118696;2172775;22120526;22661716;23148172;24567387;24890609;25414122;2570461;27072905;27965369;2823383;2825170;28400472;2841328;29557506;30007591;3025863;3086311;35051231;35964682;36012699;36831252;37563160;37820700;38253038;7737411;7746284;7815325;7937899;8024574;8183249;8196478;8396931;8564208;8564227;8617235;8664309;8816443;8832064;9305846;9308960;9490024;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:37563160). ADRA1A binds the catecholamine ligands norepinephrine and epinephrine (PubMed:18802028, PubMed:37563160, PubMed:7815325, PubMed:8024574, PubMed:8183249, PubMed:8832064). Can also couple to G(14) protein (By similarity). Nuclear ADRA1A forms heterooligomers with ADRA1B to regulate phenylephrine(PE)-stimulated ERK signaling in cardiac myocytes (PubMed:18802028, PubMed:22120526). At the plasma membrane, ADRA1A interacts with CAVIN4/MURC to regulates ERK activation in cardiomyocytes, contributing to the regulation of cardiac hypertrophy (PubMed:24567387). Additionally, functions as a vasopressor in resistance arteries and plays a role in maintaining normal arterial blood pressure (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB]; 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-1A-adrenergic receptor. Alternative splicing of this gene generates four transcript variants, which encode four different isoforms with distinct C-termini but having similar ligand binding properties. [provided by RefSeq, Jul 2008]., [RefSeq]; Alpha1A- and Beta3-Adrenoceptors Interplay in Adipose Multipotent Mesenchymal Stromal Cells: A Novel Mechanism of Obesity-Driven Hypertension. Publication Status: Online-Only, [RefSeq, PubMed]; Hsa_circ_0080608 Attenuates Lung Cancer Progression by Functioning as a Competitive Endogenous RNA to Regulate the miR-661/ADRA1A Pathway., [RefSeq, PubMed]; Hypermethylation in the promoter region of the ADRA1A gene is associated with opioid use disorder in Han Chinese., [RefSeq, PubMed]; Vascular Reactions of the Diving Reflex in Men and Women Carrying Different ADRA1A Genotypes. Publication Status: Online-Only, [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K0I3;B0ZBD1;B0ZBD2;B0ZBD4;B0ZBD5;B0ZBD6;B0ZBD8;B0ZBD9;O60451;Q13675;Q13729;Q4VBM7;Q6RUJ4;Q6RUJ5;Q6RUJ7;Q6RUJ8;Q6RUJ9;Q96RE8;Q9UD63;Q9UD67", "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:0005829 cytosol;GO:0005886 plasma membrane;GO:0031965 nuclear membrane", "go_biological_process": "GO:0006939 smooth muscle contraction;GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "P35348-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35869-1", "uniprot_id": [ { "id": "AHR_HUMAN", "url": "https://www.uniprot.org/uniprot/P35869", "type": "external" } ], "mass": 96147.0, "length": 848, "protein_name": "Aryl hydrocarbon receptor", "gene_name": "AHR", "organism": "Human", "refseq_name": "aryl hydrocarbon receptor", "refseq_ac": [ { "id": "NP_001612", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001612", "type": "external" } ], "gene_names_uniprotkb": "AHR; BHLHE76", "gene_names_refseq": "AHR; FVH3; RP85; bHLHe76", "protein_names_uniprotkb": "Aryl hydrocarbon receptor; Ah receptor; AhR; Class E basic helix-loop-helix protein 76; bHLHe76", "protein_names_refseq": "AH-receptor; ah receptor; aromatic hydrocarbon receptor; aryl hydrocarbon receptor; class E basic helix-loop-helix protein 76", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); traumatic brain injury (Disease Ontology:DOID:0081292); retinitis pigmentosa 85 (Disease Ontology:DOID:0112142); hypertension (Disease Ontology:DOID:10763); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); alcoholic hepatitis (Disease Ontology:DOID:12351); pancreatic cancer (Disease Ontology:DOID:1793); transient cerebral ischemia (Disease Ontology:DOID:224); pulmonary hypertension (Disease Ontology:DOID:6432); congenital nystagmus (Disease Ontology:DOID:9649); foveal hypoplasia 3 (MONDO:MONDO:0975805)", "pathway": " (hsa:196); (R-HSA-1989781); (R-HSA-211945); (R-HSA-211976); (R-HSA-211981); (R-HSA-8937144)", "pathway_count": 6, "publication_count": 211, "publication_id_list": "10383923;10395741;10409767;10445380;10588945;10739168;10777541;10945627;11032419;11154734;11237011;11259606;11259615;11267664;11274138;11422004;11555828;11689007;11698344;12118000;12177166;12213388;12213390;12215427;12464245;12505311;12573486;12582161;12629583;12725862;12732646;1351198;15042513;15067378;15130092;15196988;15350128;15365656;15454734;15492766;15523003;15535985;15635043;15665333;16103451;16359177;16380219;16582008;16614850;16696038;16765324;16972786;1708392;17400359;1741400;17980155;18000031;18076143;18254726;18256025;18285471;18540824;18719978;18848529;19053771;19088433;19588076;19661213;19710929;19764817;19934321;20007405;20110263;20149798;20177059;2025243;20422440;20542992;21636783;2256920;22700792;22759865;22772592;22813719;23275542;23616950;23953689;24196956;24423752;24677340;24714562;24900196;25144769;25425164;25446851;25576301;25645385;25880248;25892735;25923589;2592361;26154972;26375851;26728094;26992070;27397612;27600516;27846572;27920218;28228285;28446606;28602820;28832583;2897122;29242379;29331515;29393594;29493099;29508533;29557506;29726989;29769354;29786170;3024157;30315122;30373764;3038528;30779550;30833945;31009037;31154438;31217245;31530632;31844290;31848261;32152082;32157095;32161166;32171872;32187464;32205870;32210741;32488085;32502341;32818467;32866000;32897882;32938616;32983136;33109704;33141586;33193710;33298915;33392160;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34521881;3487786;34932366;35051231;35188035;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37217939;37938771;39192795;39264466;39337431;39365866;39405377;6220203;7217086;7515333;7550366;7685352;7883760;7892212;7903454;7961644;7980644;8246913;8393992;8619637;8647822;8647857;8975785;8985016;9012850;9169443;9367528;9447995;9536209;9578606;9644715;9653080;9748239;9842986", "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]; Involvement of Aryl Hydrocarbon Receptor in Longevity and Healthspan: Insights from Humans, Mice, and C. elegans. Publication Status: Online-Only, [RefSeq, PubMed]; Ligand-activated transcription factor that enables cells to adapt to changing conditions by sensing compounds from the environment, diet, microbiome and cellular metabolism, and which plays important roles in development, immunity and cancer (PubMed:23275542, PubMed:30373764, PubMed:32818467, PubMed:7961644). Upon ligand binding, translocates into the nucleus, where it heterodimerizes with ARNT and induces transcription by binding to xenobiotic response elements (XRE) (PubMed:23275542, PubMed:30373764, PubMed:7961644). Regulates a variety of biological processes, including angiogenesis, hematopoiesis, drug and lipid metabolism, cell motility and immune modulation (PubMed:12213388). Xenobiotics can act as ligands: upon xenobiotic-binding, activates the expression of multiple phase I and II xenobiotic chemical metabolizing enzyme genes (such as the CYP1A1 gene) (PubMed:7961644, PubMed:33193710). Mediates biochemical and toxic effects of halogenated aromatic hydrocarbons (PubMed:34521881, PubMed:7961644). Next to xenobiotics, natural ligands derived from plants, microbiota, and endogenous metabolism are potent AHR agonists (PubMed:18076143). Tryptophan (Trp) derivatives constitute an important class of endogenous AHR ligands (PubMed:32818467, PubMed:32866000). Acts as a negative regulator of anti-tumor immunity: indoles and kynurenic acid generated by Trp catabolism act as ligand and activate AHR, thereby promoting AHR-driven cancer cell motility and suppressing adaptive immunity (PubMed:32818467). Regulates the circadian clock by inhibiting the basal and circadian expression of the core circadian component PER1 (PubMed:28602820). Inhibits PER1 by repressing the CLOCK-BMAL1 heterodimer mediated transcriptional activation of PER1 (PubMed:28602820). The heterodimer ARNT:AHR binds to the dioxin response element (DRE) of target gene promoters and activates their transcription (PubMed:28602820)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; MerTK[+] macrophages promote melanoma progression and immunotherapy resistance through AhR-ALKAL1 activation., [RefSeq, PubMed]; The aryl hydrocarbon receptor shapes monocyte transcriptional responses to interleukin-4 by prolonging STAT6 binding to promoters., [RefSeq, PubMed]; The protein encoded by this gene is a ligand-activated helix-loop-helix transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Before ligand binding, the encoded protein is sequestered in the cytoplasm; upon ligand binding, this protein moves to the nucleus and stimulates transcription of target genes. [provided by RefSeq, Sep 2015]., [RefSeq]; [The involvement and underlying mechanism of the aryl hydrocarbon receptor (AhR) in the impairment of male mammalian fertility induced by environmental pollutants]. 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 16, "reported_glycation": 0, "reported_snv": 25, "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": "A4D130;Q13728;Q13803;Q13804", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0034751 aryl hydrocarbon receptor complex", "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:0071320 cellular response to cAMP;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "P35869-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42025-1", "uniprot_id": [ { "id": "ACTY_HUMAN", "url": "https://www.uniprot.org/uniprot/P42025", "type": "external" } ], "mass": 42293.0, "length": 376, "protein_name": "Beta-centractin", "gene_name": "ACTR1B", "organism": "Human", "refseq_name": "beta-centractin", "refseq_ac": [ { "id": "NP_005726", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005726", "type": "external" } ], "gene_names_uniprotkb": "ACTR1B; CTRN2", "gene_names_refseq": "ACTR1B; ARP1B; CTRN2; PC3", "protein_names_uniprotkb": "Beta-centractin; ARP1B; Actin-related protein 1B", "protein_names_refseq": "ARP1 actin related protein 1 homolog B; ARP1 actin-related protein 1 homolog B, centractin beta; beta-centractin; centractin beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:10120); (R-HSA-2132295); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 117, "publication_id_list": "10036229;10064083;10072072;10480952;10540230;10593899;10631941;10631952;10639150;10748235;10809954;11529500;11684289;11790530;11813165;11853874;12078484;12198549;12742663;12748383;14731593;15749704;15911768;16181339;16242130;16618111;16824007;17142755;17283181;17619203;18046453;18292509;18491316;1956401;19564404;21116285;2121367;21441454;2190094;22223895;23481700;23650620;2391366;24714562;25576301;26154972;26728094;27726376;27862975;27920218;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29437277;29557506;29786170;30315122;30429286;31154438;31217245;31530632;31844290;31848261;32161166;32350084;32357974;32502341;32897882;32938616;32983136;33141586;33592498;33717175;33968037;34171305;34185709;35051231;35154160;35580925;36010968;36215666;36240223;36284347;40596516;40914422;7481823;7592972;7650016;7667286;7696711;8046351;8134367;8145819;8148318;8313912;8397411;8415765;8642258;8687433;8692836;8849454;8909537;8939989;8947036;9075930;9202021;9311912;9312039;9497313;9539769;9545226;9606180", "class_list": "", "function": "Component of a multi-subunit complex involved in microtubule based vesicle motility. It is associated with the centrosome., [UniProtKB]; Down-regulation of beta-centractin is associated with hepatocellular carcinoma immune escape, [RefSeq, PubMed]; This gene encodes a 42.3 kD subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein and 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, like ACTR1A, is an actin-related protein. These two proteins, which are of equal length and share 90% amino acid identity, are present in a constant ratio of approximately 1:15 in the dynactin complex. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "D3DVH2;Q53SK5;Q9BRB7", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005524 ATP binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "P42025-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78536-1", "uniprot_id": [ { "id": "ADA17_HUMAN", "url": "https://www.uniprot.org/uniprot/P78536", "type": "external" } ], "mass": 93021.0, "length": 824, "protein_name": "Disintegrin and metalloproteinase domain-containing protein 17", "gene_name": "ADAM17", "organism": "Human", "refseq_name": "disintegrin and metalloproteinase domain-containing protein 17 isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_003174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003174", "type": "external" } ], "gene_names_uniprotkb": "ADAM17; CSVP; TACE", "gene_names_refseq": "ADAM17; ADAM18; CD156B; CSVP; HYPT16; NISBD1; NISBD; TACE", "protein_names_uniprotkb": "Disintegrin and metalloproteinase domain-containing protein 17; 3.4.24.86; ADAM 17; Snake venom-like protease; TNF-alpha convertase; TNF-alpha-converting enzyme", "protein_names_refseq": "ADAM metallopeptidase domain 18; TNF-alpha convertase enzyme; TNF-alpha convertase; TNF-alpha converting enzyme; a disintegrin and metalloproteinase 17; cartilage snake venom-like protease; disintegrin and metalloproteinase domain-containing protein 17 isoform 1 preproprotein; disintegrin and metalloproteinase domain-containing protein 17; snake venom-like protease; tumor necrosis factor, alpha, converting enzyme", "tax_id": 9606, "disease": "renal fibrosis (Disease Ontology:DOID:0050855); neonatal inflammatory skin and bowel disease 1 (Disease Ontology:DOID:0061192); Alzheimer's disease (Disease Ontology:DOID:10652); thoracic aortic aneurysm (Disease Ontology:DOID:14004); atopic dermatitis (Disease Ontology:DOID:3310); congestive heart failure (Disease Ontology:DOID:6000); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:6868); (R-HSA-1251985); (R-HSA-1442490); (R-HSA-177929); (R-HSA-193692); (R-HSA-2122948); (R-HSA-2644606); (R-HSA-2660826); (R-HSA-2691232); (R-HSA-2894862); (R-HSA-5362798); (R-HSA-75893); (R-HSA-9662834); (R-HSA-982772)", "pathway_count": 14, "publication_count": 292, "publication_id_list": "10.1101/2023.09.13.557529;10049780;10066432;10206645;10497257;10551873;10601018;10619433;10648003;10713164;10809722;10879540;10882063;10964718;10975989;11006133;11013208;11044625;11119712;11226752;11237011;11577169;11679632;11688984;11740940;11927537;12015973;12050117;12058067;12209127;12354787;12372301;12391150;12441351;12530964;12579531;12621058;12755693;12807903;12843241;12907755;12913006;14567914;14623079;14980219;15005656;15023535;15107403;15110707;15257288;15479433;1549776;15534001;15546612;15556967;15574878;15647319;15652348;15701642;15760269;15824097;15829515;15923650;15950618;15963974;15965470;16061658;16093323;16284625;16530044;16738328;16825197;1688559;16912174;17003037;17018285;17028573;1704217;17081983;17088321;17114293;17210683;17401372;17609110;17636564;17646408;17646409;17967162;18043734;18077452;18237417;18296446;1831692;18374649;18477453;18488018;18622425;18628966;18653779;18669648;18700817;18824583;18824585;19000840;19047365;19151708;19176481;1948064;19524514;19567869;19596786;19651622;19726682;19927328;2005102;20068231;20188673;2022652;20412775;20592283;20807704;20972443;21091114;21175594;21257310;21339334;21406692;21570469;21593211;21664575;2169335;21935455;22010916;22162134;22241472;22246777;22246778;22382088;22384041;22467855;22479555;2253219;22609552;22677548;22862954;22902404;23090970;23118222;23186163;23230144;23481700;23719536;23867465;23912460;24190977;24226769;24227843;24275569;24275664;24308844;24337742;24338472;24397554;24715725;24829397;2537292;25418920;2543678;2548603;25502872;2551898;25576301;25795784;25892735;26154972;26758079;26876177;26992070;27920218;28060820;28228285;2825030;2834383;2845110;28467828;2848815;28904123;28923481;29045841;29242379;29393594;29437277;29493099;29557506;29741879;29786170;30297396;30315122;3038863;30410026;30429286;30524438;30779550;30833304;30833945;31075398;31092671;31154438;31530632;31611695;31844290;32157095;32161166;3223920;32265295;32319605;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33260349;33298915;33392160;3349036;33592498;33691108;33912179;33936100;33968037;33981976;34211107;34357683;34405274;34509645;34932366;35051231;35154160;35251023;35254053;35289036;35580925;36010968;36078095;36215666;36241641;36284347;37074911;38781971;38863060;38897568;39085289;6258630;6270089;6694361;7566092;7588063;7691587;7758105;7890717;8188682;8313469;8343952;8463259;8576151;8639530;8679576;8845374;8920930;8921966;8999957;9030599;9034190;9034191;9058373;9092507;9244301;9315665;9462510;9520379;9523318;9574564;9590294;9604939;9620803;9651395;9651681;9694793;9819428", "class_list": "", "function": "Cryo-EM reveals that iRhom2 restrains ADAM17 protease activity to control the release of growth factor and inflammatory signals., [RefSeq, PubMed]; Downregulation of the metalloproteinases ADAM10 or ADAM17 promotes osteoclast differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; Ectodomain shedding of PLA2R1 is mediated by the metalloproteases ADAM10 and ADAM17., [RefSeq, PubMed]; Mesenchymal stem cell-derived extracellular vesicles ameliorate renal interstitial fibrosis via the miR-13474/ADAM17 axis. Publication Status: Online-Only, [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 biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. The encoded protease functions in the ectodomain shedding of tumor necrosis factor-alpha, in which soluble tumor necrosis factor-alpha is released from the membrane-bound precursor. This protease also functions in the processing of numerous other substrates, including cell adhesion proteins, cytokine and growth factor receptors and epidermal growth factor (EGF) receptor ligands, and plays a prominent role in the activation of the Notch signaling pathway. Elevated expression of this gene has been observed in specific cell types derived from psoriasis, rheumatoid arthritis, multiple sclerosis and Crohn's disease patients, suggesting that the encoded protein may play a role in autoimmune disease. Additionally, this protease may play a role in viral infection through its cleavage of ACE2, the cellular receptor for SARS-CoV and SARS-CoV-2. [provided by RefSeq, Aug 2020]., [RefSeq]; Transmembrane metalloprotease which mediates the ectodomain shedding of a myriad of transmembrane proteins including adhesion proteins, growth factor precursors and cytokines important for inflammation and immunity (PubMed:24226769, PubMed:24227843, PubMed:28060820, PubMed:28923481). Cleaves the membrane-bound precursor of TNF to its mature soluble form (PubMed:36078095, PubMed:9034191). Responsible for the proteolytical release of soluble JAM3 from endothelial cells surface (PubMed:20592283). Responsible for the proteolytic release of several other cell-surface proteins, including p75 TNF-receptor, interleukin 1 receptor type II, p55 TNF-receptor, transforming growth factor-alpha, L-selectin, growth hormone receptor, MUC1 and the amyloid precursor protein (PubMed:12441351). Acts as an activator of Notch pathway by mediating cleavage of Notch, generating the membrane-associated intermediate fragment called Notch extracellular truncation (NEXT) (PubMed:24226769). Plays a role in the proteolytic processing of ACE2 (PubMed:24227843). Plays a role in hemostasis through shedding of GP1BA, the platelet glycoprotein Ib alpha chain (By similarity). Mediates the proteolytic cleavage of LAG3, leading to release the secreted form of LAG3 (By similarity). Mediates the proteolytic cleavage of IL6R, leading to the release of secreted form of IL6R (PubMed:26876177, PubMed:28060820). Mediates the proteolytic cleavage and shedding of FCGR3A upon NK cell stimulation, a mechanism that allows for increased NK cell motility and detachment from opsonized target cells. Cleaves TREM2, resulting in shedding of the TREM2 ectodomain (PubMed:28923481)., [UniProtKB, PubMed, PubMed, PubMed, 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": 10, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 9, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 10, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 58, "disease_count": 7, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "O60226", "ec_number_list": [ { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.4.21.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.75", "type": "external" }, { "id": "3.4.24.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.86", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004222 metalloendopeptidase activity;GO:0005178 integrin binding;GO:0008237 metallopeptidase activity;GO:0017124 SH3 domain binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:1905564 positive regulation of vascular endothelial cell proliferation;GO:0006508 proteolysis;GO:0006509 membrane protein ectodomain proteolysis;GO:0007155 cell adhesion;GO:0007219 Notch signaling pathway", "synthesized_glycan_count": 0, "hit_score": 36.4, "record_id": "P78536-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13444-1", "uniprot_id": [ { "id": "ADA15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13444", "type": "external" } ], "mass": 92959.0, "length": 863, "protein_name": "Disintegrin and metalloproteinase domain-containing protein 15", "gene_name": "ADAM15", "organism": "Human", "refseq_name": "disintegrin and metalloproteinase domain-containing protein 15 isoform 7 preproprotein", "refseq_ac": [ { "id": "NP_001248393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248393", "type": "external" } ], "gene_names_uniprotkb": "ADAM15; MDC15", "gene_names_refseq": "ADAM15; MDC15", "protein_names_uniprotkb": "Disintegrin and metalloproteinase domain-containing protein 15; 3.4.24.-; ADAM 15; MDC-15; Metalloprotease RGD disintegrin protein; Metalloproteinase-like, disintegrin-like, and cysteine-rich protein 15; Metargidin", "protein_names_refseq": "MDC-15; a disintegrin and metalloproteinase domain 15 (metargidin); disintegrin and metalloproteinase domain-containing protein 15 isoform 7 preproprotein; disintegrin and metalloproteinase domain-containing protein 15; metalloprotease RGD disintegrin protein; metalloproteinase-like, disintegrin-like, and cysteine-rich protein 15", "tax_id": 9606, "disease": "pancreatic cancer (Disease Ontology:DOID:1793)", "pathway": " (hsa:8751); (R-HSA-1474228); (R-HSA-8941237)", "pathway_count": 3, "publication_count": 122, "publication_id_list": "10.1101/2023.09.13.557529;10229672;10386589;10531379;10706100;10809722;10986281;11375993;11741929;11872628;12091380;12243749;12615925;12727852;12843408;14973287;15234972;15358598;15591058;15818704;15958533;16133547;16303743;1649600;16631740;16825321;1698775;1707285;17332331;17354228;17416588;17575078;17608959;17937806;18296648;18387333;18434311;18658137;19010778;19207106;19571574;19657146;19714641;19718658;20142769;21030783;21297635;21441952;21670566;21784848;21864727;22159414;23035980;23090970;23481700;23845380;24190977;24715725;25576301;26992070;27862975;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29557506;29741879;29786170;30315122;30429286;30484775;31092671;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32387766;32897882;32983136;33123756;33141586;33208450;33298915;33592498;33968037;34171305;34185709;34357683;34426560;34509645;34685689;35051231;35251023;35318648;35580925;36010968;36215666;36241641;36330793;37074911;37602921;7075587;7547873;8226919;8617717;8626565;9016778;9039960;9065415;9115292;9148753;9461298;9516430;9852107;9914169", "class_list": "", "function": "A Novel Pro-Inflammatory Mechanosensing Pathway Orchestrated by the Disintegrin Metalloproteinase ADAM15 in Synovial Fibroblasts. Publication Status: Online-Only, [RefSeq, PubMed]; ADAM15 Participates in Tick-Borne Encephalitis Virus Replication. Publication Status: Online-Only, [RefSeq, PubMed]; ADAM15 correlates with prognosis, immune infiltration and apoptosis in hepatocellular carcinoma., [RefSeq, PubMed]; Active metalloproteinase with gelatinolytic and collagenolytic activity. Plays a role in the wound healing process. Mediates both heterotypic intraepithelial cell/T-cell interactions and homotypic T-cell aggregation. Inhibits beta-1 integrin-mediated cell adhesion and migration of airway smooth muscle cells. Suppresses cell motility on or towards fibronectin possibly by driving alpha-v/beta-1 integrin (ITAGV-ITGB1) cell surface expression via ERK1/2 inactivation. Cleaves E-cadherin in response to growth factor deprivation. Plays a role in glomerular cell migration. Plays a role in pathological neovascularization. May play a role in cartilage remodeling. May be proteolytically processed, during sperm epididymal maturation and the acrosome reaction. May play a role in sperm-egg binding through its disintegrin domain., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Loss of ADAM15 Exacerbates Transition to Decompensated Myocardial Hypertrophy and Dilation Through Activation of the Calcineurin Pathway., [RefSeq, PubMed]; Loss of cancer cell-derived ADAM15 alters the tumor microenvironment in colorectal tumors., [RefSeq, PubMed]; The protein encoded by this gene is a member of the ADAM (a disintegrin and metalloproteinase) protein family. ADAM family members are type I transmembrane glycoproteins known to be involved in cell adhesion and proteolytic ectodomain processing of cytokines and adhesion molecules. This protein contains multiple functional domains including a zinc-binding metalloprotease domain, a disintegrin-like domain, as well as a EGF-like domain. Through its disintegrin-like domain, this protein specifically interacts with the integrin beta chain, beta 3. It also interacts with Src family protein-tyrosine kinases in a phosphorylation-dependent manner, suggesting that this protein may function in cell-cell adhesion as well as in cellular signaling. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 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": 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": 6, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 24, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B3KQU5;B4DLB5;B4DMH8;E9PN65;Q13493;Q53XQ0;Q5SR68;Q5SR69;Q6R267;Q71S61;Q71S62;Q71S63;Q71S64;Q71S65;Q71S66;Q71S67;Q71S68;Q71S69;Q96C78;U3KQL5", "ec_number_list": [ { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" } ], "go_molecular_function": "GO:0034987 immunoglobulin receptor binding;GO:0004222 metalloendopeptidase activity;GO:0005178 integrin binding;GO:0008237 metallopeptidase activity;GO:0017124 SH3 domain binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0009986 cell surface;GO:0031514 motile cilium", "go_biological_process": "GO:1990910 response to hypobaric hypoxia;GO:0002418 immune response to tumor cell;GO:0001525 angiogenesis;GO:0006508 proteolysis;GO:0007229 integrin-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "Q13444-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53H80-1", "uniprot_id": [ { "id": "AKIR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53H80", "type": "external" } ], "mass": 22496.0, "length": 203, "protein_name": "Akirin-2", "gene_name": "AKIRIN2", "organism": "Human", "refseq_name": "akirin-2", "refseq_ac": [ { "id": "NP_060534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060534", "type": "external" } ], "gene_names_uniprotkb": "AKIRIN2; C6orf166", "gene_names_refseq": "AKIRIN2; C6orf166; FBI1; dJ486L4.2", "protein_names_uniprotkb": "Akirin-2", "protein_names_refseq": "akirin-2; fourteen-three-three beta interactant 1", "tax_id": 9606, "disease": "opportunistic bacterial infectious disease (Disease Ontology:DOID:0050340)", "pathway": " (hsa:55122)", "pathway_count": 1, "publication_count": 87, "publication_id_list": "17081983;18066067;18669648;18691976;19651622;19664994;19664995;19690332;20068231;23186163;23481700;24714562;24715725;25418920;25469497;25576301;25880248;25892735;26036627;26154972;26375851;26728094;26992070;27846572;27862975;27920218;28063628;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29485866;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30429286;31154438;31217245;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34509645;34561969;34711951;34932366;35051231;35561310;35580925;36010968;36241641;36284347;36581221;37409633;37938771", "class_list": "", "function": "AKIRIN2 controls the nuclear import of proteasomes in vertebrates., [RefSeq, PubMed]; Akirin-2 downregulation increases chemosensitivity in human glioblastomas more efficiently than Twist-1, [RefSeq, PubMed]; Molecular adapter that acts as a bridge between a variety of multiprotein complexes, and which is involved in embryonic development, immunity, myogenesis and brain development (PubMed:34711951). Plays a key role in nuclear protein degradation by promoting import of proteasomes into the nucleus: directly binds to fully assembled 20S proteasomes at one end and to nuclear import receptor IPO9 at the other end, bridging them together and mediating the import of pre-assembled proteasome complexes through the nuclear pore (PubMed:34711951). Involved in innate immunity by regulating the production of interleukin-6 (IL6) downstream of Toll-like receptor (TLR): acts by bridging the NF-kappa-B inhibitor NFKBIZ and the SWI/SNF complex, leading to promote induction of IL6 (By similarity). Also involved in adaptive immunity by promoting B-cell activation (By similarity). Involved in brain development: required for the survival and proliferation of cerebral cortical progenitor cells (By similarity). Involved in myogenesis: required for skeletal muscle formation and skeletal development, possibly by regulating expression of muscle differentiation factors (By similarity). Also plays a role in facilitating interdigital tissue regression during limb development (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": 3, "reported_mutagensis": 1, "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": "Q9BQB1", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0017053 transcription repressor complex", "go_biological_process": "GO:0009792 embryo development ending in birth or egg hatching;GO:0006351 DNA-templated transcription;GO:0045087 innate immune response;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0021987 cerebral cortex development", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q53H80-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P2P2-1", "uniprot_id": [ { "id": "ANM9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P2P2", "type": "external" } ], "mass": 94501.0, "length": 845, "protein_name": "Protein arginine N-methyltransferase 9", "gene_name": "PRMT9", "organism": "Human", "refseq_name": "protein arginine N-methyltransferase 9 isoform 2", "refseq_ac": [ { "id": "NP_001291387", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291387", "type": "external" } ], "gene_names_uniprotkb": "PRMT9; PRMT10", "gene_names_refseq": "PRMT10; PRMT9", "protein_names_uniprotkb": "Protein arginine N-methyltransferase 9; 2.1.1.320; Protein arginine N-methyltransferase 10", "protein_names_refseq": "protein arginine N-methyltransferase 9 isoform 2; protein arginine methyltransferase 10 (putative); putative protein arginine N-methyltransferase 10; putative protein arginine N-methyltransferase 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:90826)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;17005254;19300908;19413330;25418920;25576301;25737013;25799006;25880248;25979344;26154972;27387499;27600516;28218747;28446606;28832583;28904123;29242379;29557506;29603830;30315122;30410026;30429286;31217245;31844290;31848261;32157095;32161166;32938616;33592498;33717175;33912179;33981976;34357683;35051231;36028484;36241641;36284347;36581221;37217939;37715221;38561334", "class_list": "", "function": "Although amino acid substitutions of residues surrounding Arg-508 had no great effect on PRMT9 recognition of SF3B2, moving the arginine residue within this sequence abolished methylation., [RefSeq, PubMed]; Arginine methylation of HSPA8 by PRMT9 inhibits ferroptosis to accelerate hepatitis B virus-associated hepatocellular carcinoma progression. Publication Status: Online-Only, [RefSeq, PubMed]; Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA). Specifically mediates the symmetrical dimethylation of SF3B2. Involved in the regulation of alternative splicing of pre-mRNA (PubMed:25737013, PubMed:25979344)., [UniProtKB, PubMed, PubMed]; Loss-of-function mutation in PRMT9 causes abnormal synapse development by dysregulation of RNA alternative splicing. Publication Status: Online-Only, [RefSeq, PubMed]; PRMT9 is a type II methyltransferase that methylates the splicing factor SAP145. Publication Status: Online-Only, [RefSeq, PubMed]; Study demonstrated that PRMT9 is an oncogene that plays an important role in hepatocellular carcinoma cells invasion and metastasis through EMT by regulating Snail expression via activation of the PI3K/Akt/GSK-3beta/Snail signaling pathway. Erratum:[Cancer Sci. 2025 Apr;116(4):1155. doi: 10.1111/cas.70004. PMID: 39935394], [RefSeq, PubMed]; The decrease in PRMT10 was canceled by knockdown of AR or an AR antagonist. These results indicate that PRMT10 plays an important role in androgen-dependent proliferation of prostate cancer cells, [RefSeq, PubMed]; The protein arginine methyltransferase PRMT9 attenuates MAVS activation through arginine methylation. Erratum:[Nat Commun. 2024 Jan 4;15(1):282. doi: 10.1038/s41467-023-44545-9. PMID: 38177165] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a type II methyltransferase. 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 the guanidino nitrogen atoms of arginine. The protein encoded by this gene methylates spliceosome associated protein 145 to regulate alternative splicing and acts as a modulator of small nuclear ribonucleoprotein maturation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [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": 1, "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": "A8KA39;B3KU92;Q6ZR58;Q8N383;Q9BT55;Q9NT98", "ec_number_list": [ { "id": "2.1.1.320", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.320", "type": "external" } ], "go_molecular_function": "GO:0016274 protein-arginine N-methyltransferase activity;GO:0042054 histone methyltransferase activity;GO:0035243 protein-arginine omega-N symmetric methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006397 mRNA processing;GO:0006355 regulation of DNA-templated transcription;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q6P2P2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P6C2-2", "uniprot_id": [ { "id": "ALKB5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P6C2", "type": "external" } ], "mass": 44256.0, "length": 394, "protein_name": "RNA demethylase ALKBH5", "gene_name": "ALKBH5", "organism": "Human", "refseq_name": "RNA demethylase ALKBH5", "refseq_ac": [ { "id": "NP_060228", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060228", "type": "external" } ], "gene_names_uniprotkb": "ALKBH5; ABH5; OFOXD1", "gene_names_refseq": "ABH5; ALKBH5; OFOXD1; OFOXD", "protein_names_uniprotkb": "RNA demethylase ALKBH5; 1.14.11.53; Alkylated DNA repair protein alkB homolog 5; Alpha-ketoglutarate-dependent dioxygenase alkB homolog 5", "protein_names_refseq": "AlkB family member 5, RNA demethylase; RNA demethylase ALKBH5; alkB, alkylation repair homolog 5; alkylated DNA repair protein alkB homolog 5; alpha-ketoglutarate-dependent dioxygenase alkB homolog 5; oxoglutarate and iron-dependent oxygenase domain containing; probable alpha-ketoglutarate-dependent dioxygenase ABH5", "tax_id": 9606, "disease": "", "pathway": " (hsa:54890); (R-HSA-73943)", "pathway_count": 2, "publication_count": 92, "publication_id_list": "17081983;17434869;17496892;17924679;17979886;18212344;18452278;18669648;19413330;19608861;19651622;19664994;19664995;19690332;20068231;20112406;20376003;21264265;22002720;22761421;23177736;23186163;23481700;24129315;24275569;24489119;24616105;24627050;24715725;24778178;25576301;25645385;25892735;26154972;26788058;26992070;27600516;27846572;27862975;27920218;28063628;28228285;28832583;29242379;29393594;29557506;29632046;29632711;29769354;29786170;30315122;30410026;31154438;31844290;31848261;31985880;31998317;32157095;32350084;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33936100;34048572;34171305;34211107;34433824;34683137;35051231;35318648;35333330;36241641;36284347;36581221;36944332;37217939;37257451;37369679;37454738;37474102;38665916;38993559;39166492;39311450;39434797;39441582;40793791", "class_list": "", "function": "ALKBH5 Regulates Corneal Neovascularization by Mediating FOXM1 M6A Demethylation., [RefSeq, PubMed]; ALKBH5 Regulates Osteogenic Differentiation via the lncRNA/mRNA Complex., [RefSeq, PubMed]; ALKBH5 governs human endoderm fate by regulating the DKK1/4-mediated Wnt/beta-catenin activation., [RefSeq, PubMed]; ALKBH5 may have a role in the regulation of cellular responses to hypoxia as a class of HIF-transcriptional target gene Publication Status: Online-Only, [RefSeq, PubMed]; ALKBH5 modulation of ferroptosis in recurrent miscarriage: implications in cytotrophoblast dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; Branch Chain Amino Acid Metabolism Promotes Brain Metastasis of NSCLC through EMT Occurrence by Regulating ALKBH5 activity. Publication Status: Online-Only, [RefSeq, PubMed]; Dioxygenase that specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes (PubMed:23177736, PubMed:24489119, PubMed:24616105, PubMed:24778178, PubMed:34048572, PubMed:36944332, PubMed:37257451, PubMed:37369679, PubMed:40793791). Demethylates RNA by oxidative demethylation, which requires molecular oxygen, alpha-ketoglutarate and iron (PubMed:21264265, PubMed:23177736, PubMed:24489119, PubMed:24616105, PubMed:24778178). Demethylation of m6A mRNA affects mRNA processing, translation and export (PubMed:23177736, PubMed:34048572, PubMed:36944332, PubMed:37257451). Can also demethylate N(6)-methyladenosine in single-stranded DNA (in vitro) (PubMed:24616105). Required for the late meiotic and haploid phases of spermatogenesis by mediating m6A demethylation in spermatocytes and round spermatids: m6A demethylation of target transcripts is required for correct splicing and the production of longer 3'-UTR mRNAs in male germ cells (By similarity). Involved in paraspeckle assembly, a nuclear membraneless organelle, by undergoing liquid-liquid phase separation (PubMed:37369679, PubMed:37474102). Paraspeckle assembly is coupled with m6A demethylation of RNAs, such as NEAT1 non-coding RNA (PubMed:37474102). Also acts as a negative regulator of T-cell development: inhibits gamma-delta T-cell proliferation via demethylation of JAG1 and NOTCH2 transcripts (By similarity). Inhibits regulatory T-cell (Treg) recruitment by mediating demethylation and destabilization of CCL28 mRNAs (By similarity)., [UniProtKB, PubMed, 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": 14, "reported_mutagensis": 33, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DVJ4;D3DXC6;Q9NXD6", "ec_number_list": [ { "id": "1.14.11.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.53", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0046872 metal ion binding;GO:0016706 2-oxoglutarate-dependent dioxygenase activity;GO:0035515 oxidative RNA demethylase activity;GO:1990931 mRNA N6-methyladenosine dioxygenase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0042382 paraspeckles", "go_biological_process": "GO:0006397 mRNA processing;GO:0006417 regulation of translation;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0001666 response to hypoxia", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q6P6C2-2", "record_type": "protein", "filter_code": "0001000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVF6-1", "uniprot_id": [ { "id": "AN18A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVF6", "type": "external" } ], "mass": 115597.0, "length": 992, "protein_name": "Ankyrin repeat domain-containing protein 18A", "gene_name": "ANKRD18A", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 18A isoform 2", "refseq_ac": [ { "id": "NP_671728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_671728", "type": "external" } ], "gene_names_uniprotkb": "ANKRD18A; KIAA2015", "gene_names_refseq": "ANKRD18A", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 18A", "protein_names_refseq": "ankyrin repeat domain-containing protein 18A isoform 2; ankyrin repeat domain-containing protein 18A", "tax_id": 9606, "disease": "", "pathway": " (hsa:253650)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;23131552;24715725;25892735;26154972;26992070;28228285;28834231;28904123;29242379;29393594;29557506;29769354;30315122;30379171;30410026;31217245;31844290;32265295;32357974;32897882;33298915;33912179;33981976;34357683;34561969;35051231", "class_list": "", "function": "These results suggest that ANKRD18A hypermethylation and consequent mRNA alterations might be a vital molecular mechanism in 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": 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": 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": "A7MD11;A8MVU5;Q5SY86;Q7Z468;Q8NA88", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q8IVF6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZF5-1", "uniprot_id": [ { "id": "AGRF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZF5", "type": "external" } ], "mass": 116341.0, "length": 1079, "protein_name": "Adhesion G protein-coupled receptor F3", "gene_name": "ADGRF3", "organism": "Human", "refseq_name": "adhesion G-protein coupled receptor F3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001138640", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138640", "type": "external" } ], "gene_names_uniprotkb": "ADGRF3; GPR113; PGR23; PRO34000", "gene_names_refseq": "ADGRF3; GPR113; PGR23", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor F3; G protein-coupled receptor 113; G protein-coupled receptor PGR23", "protein_names_refseq": "G protein-coupled receptor 113; G protein-coupled receptor PGR23; adhesion G-protein coupled receptor F3 isoform 1 precursor; probable G-protein coupled receptor 113; seven transmembrane helix receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:165082)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;12044878;12435584;12679517;12975309;24114056;25505266;25645385;25713288;31844290;33298915;33592498;33968037;35051231;37217939", "class_list": "", "function": "Orphan receptor., [UniProtKB]; Overexpression of GPR113 is associated with Small bowel primary and metastatic neuroendocrine tumors., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 35, "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": "B4DF15;E9PEV1;Q53TA5;Q6UXT7;Q6UXX3;Q86SL7;Q8IXD8;Q8TDT3", "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": 1.8, "record_id": "Q8IZF5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZF7-1", "uniprot_id": [ { "id": "AGRF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZF7", "type": "external" } ], "mass": 78569.0, "length": 708, "protein_name": "Putative adhesion G protein-coupled receptor F2P", "gene_name": "ADGRF2P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ADGRF2P; ADGRF2; GPR111; PGR20", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative adhesion G protein-coupled receptor F2P; Adhesion G protein-coupled receptor F2; G protein-coupled receptor 111; G protein-coupled receptor PGR20", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 12, "publication_id_list": "12044878;12565841;12679517;20149256;25713288;28228285;29557506;29632046;32387766;34509645;35051231;39894887", "class_list": "", "function": "Orphan receptor., [UniProtKB]", "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q2PNZ1;Q86SL6;Q8NGU5;Q8TDT5", "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": 1.5, "record_id": "Q8IZF7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZP9-1", "uniprot_id": [ { "id": "AGRG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZP9", "type": "external" } ], "mass": 111593.0, "length": 1017, "protein_name": "Adhesion G protein-coupled receptor G2", "gene_name": "ADGRG2", "organism": "Human", "refseq_name": "adhesion G-protein coupled receptor G2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001073327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073327", "type": "external" } ], "gene_names_uniprotkb": "ADGRG2; GPR64; HE6; TM7LN2", "gene_names_refseq": "ADGRG2; CBAVDX; EDDM6; GPR64; HE6; TM7LN2", "protein_names_uniprotkb": "Adhesion G protein-coupled receptor G2; G protein-coupled receptor 64; He6; Human epididymis-specific protein 6", "protein_names_refseq": "G protein-coupled receptor 64; G protein-coupled receptor, epididymis-specific (seven transmembrane family); adhesion G-protein coupled receptor G2 isoform 1 precursor; epididymal protein 6; human epididymis-specific protein 6", "tax_id": 9606, "disease": "X-linked congenital bilateral absence of vas deferens (Disease Ontology:DOID:0111863)", "pathway": " (hsa:10149)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;12420295;17081983;18469038;18669648;20068231;23092983;23186163;23338946;23584533;25713288;27476656;28397838;29093164;29242379;29393594;29393851;29557506;30389958;30484775;30833945;31844290;31845523;32157095;32314195;32387766;32938616;33303626;33592498;33968037;33981976;34171305;34234254;34932366;35051231;35494241;35982227;36241641;37074911;37273165;38069309;39884271;9150425", "class_list": "", "function": "A novel ADGRG2 truncating variant associated with X-linked obstructive azoospermia in a large Chinese pedigree., [RefSeq, PubMed]; Adhesion G Protein-Coupled Receptor G2 Promotes Hepatocellular Carcinoma Progression and Serves as a Neutrophil-Related Prognostic Biomarker. Publication Status: Online-Only, [RefSeq, PubMed]; Adhesion G protein-coupled receptor (aGPCR) for steroid hormones, such as dehydroepiandrosterone (DHEA; also named 3beta-hydroxyandrost-5-en-17-one) and androstenedione (PubMed:29393851, PubMed:35982227, PubMed:39884271). Involved in a signal transduction pathway controlling epididymal function and male fertility (PubMed:29393851). 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:33303626, PubMed:34234254). ADGRG2 is coupled to G(s) G proteins and mediates activation of adenylate cyclase activity (PubMed:29393851, PubMed:34234254). Also able to couple with G(q) G proteins in vitro (PubMed:29393851). Together with CFTR, required to promote fluid reabsorption within efferent ductule (PubMed:29393851)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Conserved residues in the extracellular loop 2 regulate Stachel-mediated activation of ADGRG2. Publication Status: Online-Only, [RefSeq, PubMed]; Structures of the ADGRG2-Gs complex in apo and ligand-bound forms., [RefSeq, PubMed]; This gene encodes a member of the G protein-coupled receptor family described as an epididymis-specific transmembrane protein. The encoded protein may be proteolytically processed as it contains a motif shown to be a protein scission motif in some members of this family (PMID: 11973329). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 15, "predicted_n_glycosites": 15, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 6, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 1, "glyco_site_count": 28, "binding_glycan_count": 0, "secondary_ac_list": "B1AWB3;B1AWB4;B1AWB6;B1AWB7;O00406;Q14CE0;Q8IWT2;Q8IZE4;Q8IZE5;Q8IZE6;Q8IZE7;Q8IZP3;Q8IZP4", "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:0070062 extracellular exosome;GO:0016324 apical plasma 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:0007283 spermatogenesis;GO:0007286 spermatid development", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q8IZP9-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N302-1", "uniprot_id": [ { "id": "AGGF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N302", "type": "external" } ], "mass": 80977.0, "length": 714, "protein_name": "Angiogenic factor with G patch and FHA domains 1", "gene_name": "AGGF1", "organism": "Human", "refseq_name": "angiogenic factor with G patch and FHA domains 1", "refseq_ac": [ { "id": "NP_060516", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060516", "type": "external" } ], "gene_names_uniprotkb": "AGGF1; GPATC7; GPATCH7; VG5Q", "gene_names_refseq": "AGGF1; GPATC7; GPATCH7; HSU84971; HUS84971; VG5Q", "protein_names_uniprotkb": "Angiogenic factor with G patch and FHA domains 1; Angiogenic factor VG5Q; G patch domain-containing protein 7; Vasculogenesis gene on 5q protein; hVG5Q", "protein_names_refseq": "G patch domain-containing protein 7; angiogenic factor VG5Q; angiogenic factor with G patch and FHA domains 1; vasculogenesis gene on 5q protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55109); (R-HSA-6802952)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "11237011;14961121;15630448;16443853;16911369;17081983;17103452;18452278;18974108;19413330;19608861;19651622;20068231;20526349;21424530;22745804;23186163;23481700;23583981;24135138;24345920;25204415;25576301;25892735;25907612;26154972;26992070;27920218;28228285;28832583;28834231;28904123;29242379;29493099;29557506;29769354;30315122;30833945;31154438;31530632;31844290;32157095;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33968037;34171305;34509645;34551592;34932366;36010968;36241641;36581221;36753931", "class_list": "", "function": "Decreased AGGF1 facilitates the progression of placenta accreta spectrum via mediating the P53 signaling pathway under the regulation of miR-1296-5p., [RefSeq, PubMed]; Observational study of genotype prevalence and gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells and promote cell proliferation, suggesting that it may act in an autocrine fashion., [UniProtKB, PubMed]; Receptor and Molecular Mechanism of AGGF1 Signaling in Endothelial Cell Functions and Angiogenesis., [RefSeq, PubMed]; Results define VG5Q as an angiogenic factor, establish VG5Q as a susceptibility gene for Klippel-Trenaunay syndrome, and show that increased angiogenesis is a molecular pathogenic mechanism of KTS, [RefSeq, PubMed]; This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010]., [RefSeq]; This review describes the somatic mutation for angiogenic factor VG5Q, which may be the cause of the multisystem disorder Klippel-Trenaunay syndrome. Review article, [RefSeq, PubMed]; VG5Q, E133K is a mutation that causes Klippel-Trenaunay and other overgrowth syndromes., [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": 7, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "O00581;Q53YS3;Q9BU84;Q9NW66", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0001525 angiogenesis;GO:0001570 vasculogenesis;GO:0007155 cell adhesion;GO:0045766 positive regulation of angiogenesis;GO:0001938 positive regulation of endothelial cell proliferation", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q8N302-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N556-1", "uniprot_id": [ { "id": "AFAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N556", "type": "external" } ], "mass": 80725.0, "length": 730, "protein_name": "Actin filament-associated protein 1", "gene_name": "AFAP1", "organism": "Human", "refseq_name": "actin filament-associated protein 1 isoform A", "refseq_ac": [ { "id": "NP_001128119", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128119", "type": "external" } ], "gene_names_uniprotkb": "AFAP1; AFAP", "gene_names_refseq": "AFAP-110; AFAP110; AFAP1; AFAP", "protein_names_uniprotkb": "Actin filament-associated protein 1; 110 kDa actin filament-associated protein; AFAP-110", "protein_names_refseq": "110 kDa actin filament-associated protein; actin filament-associated protein 1 isoform A; actin filament-associated protein, 110 kDa", "tax_id": 9606, "disease": "open-angle glaucoma (Disease Ontology:DOID:1067)", "pathway": " (hsa:60312)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "11237011;15345747;15485829;16565220;17081983;17520695;17885682;18212344;18452278;18669648;18767875;19413330;19415658;19664994;19664995;19691289;20068231;21406692;23186163;24275569;25576301;27600516;27862975;29242379;29393594;29493099;29557506;29654169;29786170;30326930;30429286;30779550;31844290;31875436;32016968;32157095;32357974;32387766;32488085;32938616;32983136;33298915;33441229;33592498;33968037;33981976;35051231;35318648;35580925;36215666;36241641;36284347;38665916;9655255", "class_list": "", "function": "Authors determined that AFAP1-AS1 functions as a competing endogenous RNA in NPC to regulate the Rho/Rac pathway through miR-423-5p. Publication Status: Online-Only, [RefSeq, PubMed]; Can cross-link actin filaments into both network and bundle structures (By similarity). May modulate changes in actin filament integrity and induce lamellipodia formation. May function as an adapter molecule that links other proteins, such as SRC and PKC to the actin cytoskeleton. Seems to play a role in the development and progression of prostate adenocarcinoma by regulating cell-matrix adhesions and migration in the cancer cells., [UniProtKB, PubMed]; E experiment in vitro suggested down-regulation of AFAP1-AS1 inhibited retinoblastoma cell proliferation, migration and invasion, and blocked cell cycle. In conclusion, AFAP1-AS1 functions as an oncogenic lncRNA in retinoblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Long non-coding RNA AFAP1-AS1 promotes proliferation and migration of gastric cancer by downregulating KLF2., [RefSeq, PubMed]; The expression of AFAP1-AS1 was high in the oral squamous cell carcinoma tissues and SCC25 cells and is associated with the development and prognosis of oral squamous cell carcinoma, [RefSeq, PubMed]; The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]., [RefSeq]; [Knockdown of long non-coding RNA actin filament-associated protein 1 antisense RNA1 (AFAP1-AS1) inhibits epithelial-mesenchymal transition, invasion and migration of TPC-1 papillary thyroid 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "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": "A8K442;B4DMU2;E9PDT7;Q59EY5;Q9HBY1", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003779 actin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005884 actin filament;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q8N556-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6M5-1", "uniprot_id": [ { "id": "ALLC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6M5", "type": "external" } ], "mass": 43559.0, "length": 391, "protein_name": "Probable inactive allantoicase", "gene_name": "ALLC", "organism": "Human", "refseq_name": "probable inactive allantoicase", "refseq_ac": [ { "id": "NP_060906", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060906", "type": "external" } ], "gene_names_uniprotkb": "ALLC", "gene_names_refseq": "ALC; ALLC", "protein_names_uniprotkb": "Probable inactive allantoicase; Allantoate amidinohydrolase", "protein_names_refseq": "allantoate amidinohydrolase; probable allantoicase; probable inactive allantoicase", "tax_id": 9606, "disease": "", "pathway": " (hsa:55821)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11054555;12036579;29557506", "class_list": "", "function": "Allantoicase (EC 3.5.3.4) participates in the uric acid degradation pathway. Its enzymatic activity, like that of urate oxidase (MIM 191540), was lost during vertebrate evolution.[supplied by OMIM, Nov 2008]., [RefSeq]; The function of this enzyme is unclear as allantoicase activity is not known to exist in mammals., [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": 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": "B4DY77;Q53T95;Q5RL81;Q96RE6;Q9NZA7", "ec_number_list": [], "go_molecular_function": "GO:0004037 allantoicase activity", "go_cellular_component": "", "go_biological_process": "GO:0000256 allantoin catabolic process", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8N6M5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NER5-1", "uniprot_id": [ { "id": "ACV1C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NER5", "type": "external" } ], "mass": 54871.0, "length": 493, "protein_name": "Activin receptor type-1C", "gene_name": "ACVR1C", "organism": "Human", "refseq_name": "activin receptor type-1C isoform 2", "refseq_ac": [ { "id": "NP_001104501", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104501", "type": "external" } ], "gene_names_uniprotkb": "ACVR1C; ALK7", "gene_names_refseq": "ACVR1C; ACVRLK7; ALK7", "protein_names_uniprotkb": "Activin receptor type-1C; 2.7.11.30; ACTR-IC; ALK-7; Activin receptor type IC; Activin receptor-like kinase 7", "protein_names_refseq": "ACTR-IC; ALK-7; activin A receptor, type IC; activin receptor type IC; activin receptor type-1C isoform 2; activin receptor type-1C; activin receptor-like kinase 7", "tax_id": 9606, "disease": "retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:130399); (R-HSA-1181150); (R-HSA-1433617); (R-HSA-1502540)", "pathway_count": 4, "publication_count": 56, "publication_id_list": "10067895;10473623;10822381;10934479;11024047;11117535;11294908;11389842;11485994;11779503;11779505;12063393;12592392;12606401;14978253;15062104;15087470;15107418;15123686;15150278;15350224;15485907;15531507;16140969;16260601;17272273;17344846;17906079;18166170;18951876;19114992;20694664;21356369;21383881;21532621;25603319;29786170;32366358;33298915;33499275;33936100;34173336;34357683;35051231;35666032;38307384;8196624;8622651;8721982;8878477;9032295;9288972;9311995;9459292;9670020;9702198", "class_list": "", "function": "ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]., [RefSeq]; ALK7 and its isoforms are expressed in human placentae of different stages of pregnancy and that their expression is developmentally regulated, [RefSeq, PubMed]; ALK7 induces apoptosis through activation of the traditional TGF-beta pathway components, [RefSeq, PubMed]; Activin receptor-like kinase 7 silencing alleviates cardiomyocyte apoptosis, cardiac fibrosis, and dysfunction in diabetic rats., [RefSeq, PubMed]; CDNA cloning, expression studies and chromosome mapping, [RefSeq, PubMed]; Control of brown adipose tissue adaptation to nutrient stress by the activin receptor ALK7. Publication Status: Online-Only, [RefSeq, PubMed]; Human ACVR1C missense variants that correlate with altered body fat distribution produce metabolic alterations of graded severity in knock-in mutant mice., [RefSeq, PubMed]; Regulation of metabolic homeostasis by the TGF-beta superfamily receptor ALK7. Review article, [RefSeq, PubMed]; Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex consists of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators, SMAD2 and SMAD3. Receptor for activin AB, activin B, activin E and NODAL. Upon NODAL binding, activation results in increased apoptosis and reduced proliferation through suppression of AKT signaling and the activation of Smad2-dependent signaling pathway in pancreatic beta-cells, trophoblasts, epithelial or neuronal cells (PubMed:15531507, PubMed:15150278). Acts as a positive regulator for macrophage activation partially through down-regulation of PPARG expression (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, PubMed]; The Nodal-ALK7 pathway inhibits cell proliferation by inducing G(1) cell cycle arrest, [RefSeq, PubMed]; UV-Induced Reduction of ACVR1C Decreases SREBP1 and ACC Expression by the Suppression of SMAD2 Phosphorylation in Normal Human Epidermal Keratinocytes. 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": 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": "Q4ZFZ8;Q86UL1;Q86UL2;Q8TBG2", "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:0019838 growth factor binding;GO:0046872 metal ion binding;GO:0016361 activin receptor activity, type I", "go_cellular_component": "GO:0005886 plasma membrane;GO:0048179 activin receptor complex", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0043065 positive regulation of apoptotic process;GO:0097190 apoptotic signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q8NER5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TC94-1", "uniprot_id": [ { "id": "ACTL9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TC94", "type": "external" } ], "mass": 45516.0, "length": 416, "protein_name": "Actin-like protein 9", "gene_name": "ACTL9", "organism": "Human", "refseq_name": "actin-like protein 9", "refseq_ac": [ { "id": "NP_848620", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848620", "type": "external" } ], "gene_names_uniprotkb": "ACTL9; ACTL7C; HSD21", "gene_names_refseq": "ACTL9; HSD21; SPGF53", "protein_names_uniprotkb": "Actin-like protein 9", "protein_names_refseq": "actin-like protein 9; testicular tissue protein Li 15; testicular tissue protein Li 9", "tax_id": 9606, "disease": "spermatogenic failure 53 (Disease Ontology:DOID:0112279)", "pathway": " (hsa:284382)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "16959974;23278845;26127003;33626338;38769899", "class_list": "", "function": "Association of KIF3A, but not OVOL1 and ACTL9, with atopic eczema in Italian patients, [RefSeq, PubMed]; Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice., [RefSeq, PubMed]; Identification of a new mutation in the ACTL9 gene in men with unexplained infertility., [RefSeq, PubMed]; KIF3A and OVOL1, but not ACTL9, are involved in the development of Atopic dermatitis in the Chinese pediatric population., [RefSeq, PubMed]; Testis-specic protein that plays an important role in fusion of proacrosomal vesicles and perinuclear theca formation., [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K893;Q6X960", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton", "go_cellular_component": "GO:0061827 sperm head;GO:0015629 actin cytoskeleton;GO:0001669 acrosomal vesicle;GO:0033011 perinuclear theca", "go_biological_process": "GO:0009566 fertilization;GO:0007338 single fertilization;GO:0001675 acrosome assembly", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8TC94-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BT7-1", "uniprot_id": [ { "id": "ALKB8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BT7", "type": "external" } ], "mass": 75208.0, "length": 664, "protein_name": "tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8", "gene_name": "ALKBH8", "organism": "Human", "refseq_name": "tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8 isoform 1", "refseq_ac": [ { "id": "NP_620130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620130", "type": "external" } ], "gene_names_uniprotkb": "ALKBH8; ABH8", "gene_names_refseq": "ABH8; ALKBH8; MRT71; TRM9; TRMT9A; TRMT9", "protein_names_uniprotkb": "tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8; 2.1.1.229; Alkylated DNA repair protein alkB homolog 8; Alpha-ketoglutarate-dependent dioxygenase ALKBH8; S-adenosyl-L-methionine-dependent tRNA methyltransferase ALKBH8", "protein_names_refseq": "AlkB homologue 8; S-adenosyl-L-methionine-dependent tRNA methyltransferase ABH8; S-adenosyl-L-methionine-dependent tRNA methyltransferase ALKBH8; alkB, alkylation repair homolog 8; alkylated DNA repair protein alkB homolog 8; alpha-ketoglutarate-dependent dioxygenase ALKBH8; probable alpha-ketoglutarate-dependent dioxygenase ABH8; tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ABH8; tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8 isoform 1; tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8; tRNA methyltransferase 9 homolog; tRNA methyltransferase 9 related", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 71 (Disease Ontology:DOID:0081232)", "pathway": " (hsa:91801); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10430867;10982862;11027153;11111046;11237011;12403464;15861136;15870694;15994936;16043508;16424344;17071714;17979886;18567810;19017811;19293182;19414587;20123966;20308323;20354154;20584901;21059936;21131277;21285950;22065580;22344696;22591353;22995836;23042678;23048041;23381944;23604283;24126054;24204302;24901367;25261850;25404562;25916855;26160102;26310293;27055666;27920218;28218747;28228285;28411811;28649982;29437277;29632046;30315122;30410026;31079898;31481669;31844290;32157095;32357974;32938616;33544954;33912179;33968037;34757492;34948388;35051231;35494241;35580925;36192131;36610787;38189198;9430663;9851972", "class_list": "", "function": "Catalyzes the methylation of 5-carboxymethyl uridine to 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in tRNA via its methyltransferase domain (PubMed:20123966, PubMed:20308323, PubMed:31079898). Catalyzes the last step in the formation of 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in target tRNA (PubMed:20123966, PubMed:20308323). Has a preference for tRNA(Arg) and tRNA(Glu), and does not bind tRNA(Lys) (PubMed:20308323). Binds tRNA and catalyzes the iron and alpha-ketoglutarate dependent hydroxylation of 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in tRNA via its dioxygenase domain, giving rise to 5-(S)-methoxycarbonylhydroxymethyluridine; has a preference for tRNA(Gly) (PubMed:21285950). Required for normal survival after DNA damage (PubMed:20308323). May inhibit apoptosis and promote cell survival and angiogenesis (PubMed:19293182)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Data show that human AlkB homolog 8 (ABH8) catalyzes tRNA methylation to generate 5-methylcarboxymethyl uridine (mcm(5)U) at the wobble position of certain tRNAs, a critical anticodon loop modification linked to DNA damage survival., [RefSeq, PubMed]; Findings indicate a role for ALKBH8 in urothelial carcinoma cell survival mediated by NOX-1-dependent ROS signals, further suggesting therapeutic strategies in human bladder cancer by inducing JNK/p38/gammaH2AX-mediated cell death by silencing of ALKBH8., [RefSeq, PubMed]; HITS-CLIP analysis of human ALKBH8 reveals interactions with fully processed substrate tRNAs and with specific noncoding RNAs., [RefSeq, PubMed]; Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant., [RefSeq, PubMed]; Many eukaryotic tRNAs contain the wobble modification 5-methoxycarbonylmethyl-uridine (mcm5U). It is demonstrated that (R)- and (S)-5-methoxycarbonylhydroxymethyluridine (mchm5U), hydroxylated forms of mcm(5)U, are present in mammalian tRNA-Arg(UCG), and tRNA-Gly(UCC), respectively. It is shown that the hydroxylation reaction leading to the formation of (S)-mchm5U is catalyzed by the oxygenase (AlkB) domain of ALKBH8. Publication Status: Online-Only, [RefSeq, PubMed]; Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant., [RefSeq, PubMed]; The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders., [RefSeq, PubMed]; The methyltransferase domain of ALKBH8 is demonstrated to be a functional homologue of the Saccharomyces cerevisiae Trm9 protein, mediating the last step in the formation of the wobble uridine modification 5-methoxycarbonylmethyl-uridine in tRNA. This modification is shown to be important for efficient selenoprotein synthesis. ALKBH8 knock-out mice are generated and described., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1Q2M0;B4DEF6;Q8N989", "ec_number_list": [ { "id": "2.1.1.229", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.229", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0008270 zinc ion binding;GO:0000049 tRNA binding;GO:0016706 2-oxoglutarate-dependent dioxygenase activity;GO:0008757 S-adenosylmethionine-dependent methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006974 DNA damage response;GO:0002098 tRNA wobble uridine modification;GO:0030488 tRNA methylation", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q96BT7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96F25-1", "uniprot_id": [ { "id": "ALG14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96F25", "type": "external" } ], "mass": 24151.0, "length": 216, "protein_name": "UDP-N-acetylglucosamine transferase subunit ALG14", "gene_name": "ALG14", "organism": "Human", "refseq_name": "UDP-N-acetylglucosamine transferase subunit ALG14 isoform 2", "refseq_ac": [ { "id": "NP_001292171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001292171", "type": "external" } ], "gene_names_uniprotkb": "ALG14", "gene_names_refseq": "ALG14; CMS15; IDDEBF; MEPCA", "protein_names_uniprotkb": "UDP-N-acetylglucosamine transferase subunit ALG14; Asparagine-linked glycosylation 14 homolog", "protein_names_refseq": "UDP-N-acetylglucosamine transferase subunit ALG14 homolog; UDP-N-acetylglucosamine transferase subunit ALG14 isoform 2", "tax_id": 9606, "disease": "congenital myasthenic syndrome 15 (Disease Ontology:DOID:0110658); intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (MONDO:MONDO:0033572); myopathy, epilepsy, and progressive cerebral atrophy (MONDO:MONDO:0033619)", "pathway": " (hsa:199857); (R-HSA-446193); (R-HSA-5633231)", "pathway_count": 3, "publication_count": 43, "publication_id_list": "10359825;10704531;11278778;11807558;11983712;12030331;12200473;12684507;12872255;14709599;14973778;14973782;15148656;15235028;15710750;15840742;15945070;16007612;16100110;16859551;16878994;18313027;18597486;19282279;22742743;23404334;26154972;26992070;28733338;28832583;28834231;29242379;30221345;31844290;32157095;32357974;33751823;34185709;36010968;36200043;37217939;9451016;9597543", "class_list": "glycogene;glycosyltransferase", "function": "A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy., [RefSeq, PubMed]; ALG13 and ALG14 form a functional endoplasmic reticulum UDP-N-acetylglucosamine transferase, [RefSeq, PubMed]; New ALG14 congenital disorder of glycosylation with early and lethal neurodegeneration with myasthenic and myopathic features., [RefSeq, PubMed]; Part of the UDP-N-acetylglucosamine transferase complex 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 oligosaccharides are transferred from the lipid to nascent proteins by oligosaccharyltransferases. Functions as a protein-membrane adapter recruiting ALG13 at the cytoplasmic face of the endoplasmic reticulum, where the complex catalyzes the second step of dolichol pyrophosphate biosynthesis, transferring a beta1,4-linked N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to GlcNAc-pyrophosphatedolichol (Gn-PDol) to produce N,N'-diacetylchitobiosyl diphosphodolichol. N,N'-diacetylchitobiosyl diphosphodolichol is a substrate for ALG1, the following enzyme in the biosynthetic pathway., [UniProtKB, PubMed, PubMed]; This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]., [RefSeq]; We highlight the findings in two affected siblings with splice altering variants in ALG14 and propose a new clinical entity, which includes severe intellectual disability, epilepsy, behavioral problems and mild dysmorphic features, caused by biallelic variants in ALG14., [RefSeq, PubMed]; We identify ALG14 and ALG2 as novel genes in which mutations cause a congenital myasthenic 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 307, "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": "A8K030", "ec_number_list": [], "go_molecular_function": "GO:0043495 protein-membrane adaptor activity", "go_cellular_component": "GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0005789 endoplasmic reticulum membrane;GO:0043541 UDP-N-acetylglucosamine transferase complex", "go_biological_process": "GO:0006488 dolichol-linked oligosaccharide biosynthetic process;GO:0006487 protein N-linked glycosylation", "synthesized_glycan_count": 15150, "hit_score": 4.6, "record_id": "Q96F25-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96L96-1", "uniprot_id": [ { "id": "ALPK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96L96", "type": "external" } ], "mass": 180672.0, "length": 1705, "protein_name": "Alpha-protein kinase 3", "gene_name": "ALPK3", "organism": "Human", "refseq_name": "alpha-protein kinase 3", "refseq_ac": [ { "id": "NP_065829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065829", "type": "external" } ], "gene_names_uniprotkb": "ALPK3; KIAA1330; MAK", "gene_names_refseq": "ALPK3; CMH27; MAK; MIDORI", "protein_names_uniprotkb": "Alpha-protein kinase 3; 2.7.11.1; Muscle alpha-protein kinase", "protein_names_refseq": "alpha-protein kinase 3; muscle alpha-kinase; muscle alpha-protein kinase; myocyte induction differentiation originator", "tax_id": 9606, "disease": "hypertrophic cardiomyopathy 27 (Disease Ontology:DOID:0061102)", "pathway": " (hsa:57538)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10021370;17344846;26846950;27106955;28228285;28630369;28832583;29242379;30046096;33076350;33191771;34263907;35510648;36240223;36321451;37217939;38253038;39894887", "class_list": "", "function": "A Pathogenic Variant in ALPK3 Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy., [RefSeq, PubMed]; Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy., [RefSeq, PubMed]; Involved in cardiomyocyte differentiation., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; MicroRNA-384-5p protects against cardiac hypertrophy via the ALPK3 signaling pathway., [RefSeq, PubMed]; Pathogenesis of Cardiomyopathy Caused by Variants in ALPK3, an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere., [RefSeq, PubMed]; Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants. 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "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": "Q9P2L6", "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:0005634 nucleus", "go_biological_process": "GO:0007507 heart development;GO:0055013 cardiac muscle cell development", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q96L96-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRQ8-1", "uniprot_id": [ { "id": "FSP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRQ8", "type": "external" } ], "mass": 40527.0, "length": 373, "protein_name": "Ferroptosis suppressor protein 1", "gene_name": "AIFM2", "organism": "Human", "refseq_name": "ferroptosis suppressor protein 1", "refseq_ac": [ { "id": "NP_001185625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185625", "type": "external" } ], "gene_names_uniprotkb": "AIFM2; AMID; PRG3", "gene_names_refseq": "AIFM2; AMID; FSP1; PRG3", "protein_names_uniprotkb": "Ferroptosis suppressor protein 1; 1.6.5.-; AMID; Apoptosis-inducing factor homologous mitochondrion-associated inducer of death; FSP1; p53-responsive gene 3 protein", "protein_names_refseq": "AIF family member 2; apoptosis inducing factor mitochondria associated 2; apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death; apoptosis-inducing factor 2; apoptosis-inducing factor, mitochondrion-associated, 2; ferroptosis suppressor 1; ferroptosis suppressor protein 1; p53-responsive gene 3 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:84883); (R-HSA-6803204)", "pathway_count": 2, "publication_count": 129, "publication_id_list": "10.1101/2023.09.13.557529;10807576;11030628;11511362;11684014;11980907;12135761;12402042;12606722;14729977;15126337;15273740;15607964;15735003;15958387;17349958;18617898;19377469;20112406;20213681;22334068;22424782;22544926;22645359;22766503;23365256;23481700;23684607;23931759;24714562;24715725;25080938;25255805;25418920;25576301;25880248;26071602;26154972;26375851;26689472;26728094;26811146;26929215;26992070;27397612;27600516;27846572;27893789;27920218;28063628;28218747;28228285;28446606;28514659;28832583;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30379171;30429286;30484775;30573663;30833945;31154438;31217245;31530632;31634899;31634900;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34357683;34509645;34561969;34932366;35051231;35154160;35251023;35580925;35922516;36010968;36241641;36788244;37380771;37739993;37903990;37957306;38244593;38414669;39160155;39881208;40233740;40596516;41350704;7834749", "class_list": "", "function": "A NAD(P)H-dependent oxidoreductase that acts as a key inhibitor of ferroptosis (PubMed:31634899, PubMed:31634900, PubMed:35922516, PubMed:36788244, PubMed:37957306, PubMed:39881208, PubMed:37739993, PubMed:39160155, PubMed:38414669, PubMed:40233740). At the plasma membrane, catalyzes reduction of coenzyme Q/ubiquinone-10 to ubiquinol-10, a lipophilic radical-trapping antioxidant that prevents lipid oxidative damage and consequently ferroptosis (PubMed:31634899, PubMed:31634900, PubMed:37739993, PubMed:39160155, PubMed:38414669, PubMed:40233740). Acts in parallel to GPX4 to suppress phospholipid peroxidation and ferroptosis (PubMed:31634899, PubMed:31634900). This anti-ferroptotic function is independent of cellular glutathione levels (PubMed:31634899, PubMed:31634900). Also acts as a potent radical-trapping antioxidant by mediating warfarin-resistant vitamin K reduction in the canonical vitamin K cycle: catalyzes NAD(P)H-dependent reduction of vitamin K (phylloquinone, menaquinone-4 and menadione) to hydroquinone forms (PubMed:35922516, PubMed:36788244). Hydroquinones act as potent radical-trapping antioxidants inhibitor of phospholipid peroxidation and ferroptosis (PubMed:35922516). May play a role in mitochondrial stress signaling (PubMed:26689472). Upon oxidative stress, associates with the lipid peroxidation end product 4-hydroxy-2-nonenal (HNE) forming a lipid adduct devoid of oxidoreductase activity, which then translocates from mitochondria into the nucleus triggering DNA damage and cell death (PubMed:26689472). Capable of DNA binding in a non-sequence specific way (PubMed:15958387)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; AMID is a p53-downstream gene involved in tumorigenesis., [RefSeq, PubMed]; Circ0060467 sponges miR-6805 to promote hepatocellular carcinoma progression through regulating AIFM2 and GPX4 expression., [RefSeq, PubMed]; Encodes a homologue of the apoptosis-inducing factor, [RefSeq, PubMed]; Induces caspase-independent apoptosis, [RefSeq, PubMed]; This gene encodes a flavoprotein oxidoreductase that binds single stranded DNA and is thought to contribute to apoptosis in the presence of bacterial and viral DNA. The expression of this gene is also found to be induced by tumor suppressor protein p53 in colon cancer cells. [provided by RefSeq, Nov 2010]., [RefSeq]; YTHDC1 as a tumor progression suppressor through modulating FSP1-dependent ferroptosis suppression in 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": 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": 33, "reported_glycation": 0, "reported_snv": 11, "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": "B3KXI0;Q63Z39", "ec_number_list": [ { "id": "1.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.2", "type": "external" }, { "id": "1.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.-", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0050660 flavin adenine dinucleotide binding;GO:0004174 electron-transferring-flavoprotein dehydrogenase activity;GO:0016655 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0008637 apoptotic mitochondrial changes;GO:1900407 regulation of cellular response to oxidative stress;GO:0042373 vitamin K metabolic process;GO:0006743 ubiquinone metabolic process", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "Q9BRQ8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXX3-1", "uniprot_id": [ { "id": "AN30A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXX3", "type": "external" } ], "mass": 158835.0, "length": 1397, "protein_name": "Ankyrin repeat domain-containing protein 30A", "gene_name": "ANKRD30A", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 30A", "refseq_ac": [ { "id": "NP_443723", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443723", "type": "external" } ], "gene_names_uniprotkb": "ANKRD30A", "gene_names_refseq": "ANKRD30A; NY-BR-1", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 30A; Serologically defined breast cancer antigen NY-BR-1", "protein_names_refseq": "ankyrin repeat domain-containing protein 30A; serologically defined breast cancer antigen NY-BR-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:91074); (R-HSA-9927418); (R-HSA-9927426)", "pathway_count": 3, "publication_count": 24, "publication_id_list": "11237011;11280766;16335914;16364570;16675566;16959974;17330232;17536312;18041742;25387692;26415367;27863482;28228285;29116378;29242379;29557506;30192525;30379171;31786890;31844290;32310221;32938616;35051231;38253038", "class_list": "", "function": "Authors found a high sensitivity for all the markers analyzed. Moreover, the expression of NY-BR-1 and GATA-3 seemed the most effective for labelling male breast cancer in primary and metastatic setting., [RefSeq, PubMed]; In this study we extended the expression analysis to various other normal and tumor tissues and found inconsistent expression of NY-BR-1 in normal prostate, but consistent NY-BR-1 mRNA expression in 32% of prostate cancers, but not in other tumor types Publication Status: Online-Only, [RefSeq, PubMed]; NY-BR-1 is a differentiation antigen of the breast, which is present in normal and tumorous mammary epithelium., [RefSeq, PubMed]; Over 2800 SNPs are recorded in the dbSNP and NHLBI Exome Sequencing Project (ESP) databases for the NY-BR-1 gene. Publication Status: Online-Only, [RefSeq, PubMed]; Results revealed a significant difference in NY-BR-1 Ag expression between benign and malignant breast cancer patients, [RefSeq, PubMed]; Testing demonstrates NY-BR-1 in a mostly focal fashion in the epithelia of ducts and acini of the mammary gland. In tumors, homogenous staining can be seen in almost all ductal carcinomas in situ and/or the intraductal component of invasive carcinomas., [RefSeq, PubMed]; The strong expression of NY-BR-1 in breast tumors, its cytoplasmic and membrane localization and accessibility to an ectopically applied antibody now suggest to pursue NY-BR-1 as a potential target for antibody-based therapies in breast cancer patients., [RefSeq, PubMed]; This gene encodes a DNA-binding transcription factor that is uniquely expressed in mammary epithelium and the testis. Altered expression levels have been associated with breast cancer progression. [provided by RefSeq, Nov 2016]., [RefSeq]; This observation was confirmed in four independent cohorts, GSE22138, GSE54467, GSE65904 and E-MTAB-4725. In addition, the melanoma score was independent of most clinically used indicators., [RefSeq, PubMed]; We identified estrogen-response element (ERE)-like sequences nearby the NY-BR-1 promoter region, suggesting that NY-BR-1 expression might be regulated through estrogen receptors., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 52, "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": "Q5W025", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9BXX3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYX7-1", "uniprot_id": [ { "id": "ACTBM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYX7", "type": "external" } ], "mass": 42016.0, "length": 375, "protein_name": "Putative beta-actin-like protein 3", "gene_name": "POTEKP", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "POTEKP; ACTBL3; FKSG30", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative beta-actin-like protein 3; Kappa-actin; POTE ankyrin domain family member K", "protein_names_refseq": "", "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": " (R-HSA-114608)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "10.1101/2023.09.13.557529;1435334;14630798;15297306;16824795;23640497;23673617;25505266;26154972;27452731;28228285;28832583;28834231;28855257;28904123;29242379;29314611;29331515;29557506;29786170;30397120;30429286;30524438;31217245;31844290;31848261;32157095;32387766;32488085;32938616;33091337;33392160;33912179;33968037;34357683;34932366;35051231;37217939;6457647;8467233", "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": 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": 0, "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": "Q562N5", "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:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005884 actin filament;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0007409 axonogenesis;GO:0048870 cell motility", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9BYX7-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0P7-1", "uniprot_id": [ { "id": "AGIT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0P7", "type": "external" } ], "mass": 20949.0, "length": 198, "protein_name": "Putative uncharacterized protein encoded by AGPAT4-IT1", "gene_name": "AGPAT4-IT1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "AGPAT4-IT1; C6orf59; NCRNA00241", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by AGPAT4-IT1; AGPAT4 intronic transcript 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11230166", "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": "A7E1X1;Q2M1M7;Q5TEF2;Q9H5S5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q9H0P7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H553-1", "uniprot_id": [ { "id": "ALG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H553", "type": "external" } ], "mass": 47092.0, "length": 416, "protein_name": "Alpha-1,3/1,6-mannosyltransferase ALG2", "gene_name": "ALG2", "organism": "Human", "refseq_name": "alpha-1,3/1,6-mannosyltransferase ALG2", "refseq_ac": [ { "id": "NP_149078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149078", "type": "external" } ], "gene_names_uniprotkb": "ALG2; PRO1298", "gene_names_refseq": "ALG2; CDG1I; CDGIi; CMS14; CMSTA3; NET38; hALPG2", "protein_names_uniprotkb": "Alpha-1,3/1,6-mannosyltransferase ALG2; 2.4.1.132; 2.4.1.257; Asparagine-linked glycosylation protein 2 homolog; GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase; GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase; GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase", "protein_names_refseq": "GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase; GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase; GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase; alpha-1,3-mannosyltransferase ALG2; alpha-1,3/1,6-mannosyltransferase ALG2; asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase); asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase); asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog; asparagine-linked glycosylation protein 2 homolog; homolog of yeast ALG2", "tax_id": 9606, "disease": "congenital disorder of glycosylation Ii (Disease Ontology:DOID:0080561); congenital myasthenic syndrome 14 (Disease Ontology:DOID:0110669)", "pathway": " (hsa:85365); (R-HSA-446193); (R-HSA-4549349)", "pathway_count": 3, "publication_count": 62, "publication_id_list": "10359825;10704531;11237011;11278778;11807558;11983712;12030331;12200473;12684507;12872255;12975309;14709599;14973778;14973782;15148656;15235028;15710750;15840742;15945070;16007612;16100110;16859551;16878994;18313027;18597486;19282279;22742743;23404334;25576301;26992070;27862975;27920218;28514659;28832583;28904123;29242379;29393594;30315122;30429286;31217245;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32938616;33123756;33592498;33644825;33912179;33936100;33968037;33981976;34087483;35051231;35136180;35580925;9451016;9597543", "class_list": "glycogene;glycosyltransferase", "function": "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 second and third mannose residues to the dolichol-linked oligosaccharide chain, to produce Man3GlcNAc(2)-PP-dolichol core oligosaccharide. Man3GlcNAc(2)-PP-dolichol is a substrate for ALG11, the following enzyme in the biosynthetic pathway (PubMed:12684507, PubMed:35136180). While both alpha 1,3 and alpha 1,6 linkages are possible, the sequential addition of alpha 1,3 followed by alpha 1,6 is probably the preferred route (PubMed:35136180)., [UniProtKB, PubMed, PubMed]; This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]., [RefSeq]; Topological and enzymatic analysis of human Alg2 mannosyltransferase reveals its role in lipid-linked oligosaccharide biosynthetic 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": 620, "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": "A2A2Y0;Q8NBX2;Q8NC39", "ec_number_list": [ { "id": "2.4.1.132", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.132", "type": "external" }, { "id": "2.4.1.257", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.257", "type": "external" } ], "go_molecular_function": "GO:0000033 alpha-1,3-mannosyltransferase activity;GO:0004378 GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity;GO:0102704 GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity", "go_cellular_component": "GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0009101 glycoprotein biosynthetic process;GO:0006488 dolichol-linked oligosaccharide biosynthetic process;GO:0006487 protein N-linked glycosylation", "synthesized_glycan_count": 13365, "hit_score": 6.3, "record_id": "Q9H553-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H568-1", "uniprot_id": [ { "id": "ACTL8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H568", "type": "external" } ], "mass": 41360.0, "length": 366, "protein_name": "Actin-like protein 8", "gene_name": "ACTL8", "organism": "Human", "refseq_name": "actin-like protein 8", "refseq_ac": [ { "id": "NP_110439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110439", "type": "external" } ], "gene_names_uniprotkb": "ACTL8", "gene_names_refseq": "ACTL8; CT57", "protein_names_uniprotkb": "Actin-like protein 8; CT57; Cancer/testis antigen 57", "protein_names_refseq": "actin like protein; actin-like protein 8; cancer/testis antigen 57", "tax_id": 9606, "disease": "", "pathway": " (hsa:81569)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "15905330;17697703;20068231;23481700;24397554;25418920;26154972;26375851;26992070;27920218;28904123;29632046;30315122;31530632;31962007;31998317;32357974;33298915;33912179;34171305;35051678;39322809", "class_list": "", "function": "ACTL8 Promotes the Progression of Gastric Cancer Through PI3K/AKT/mTOR Signaling Pathway., [RefSeq, PubMed]; Actin-like protein 8 promotes cell proliferation, colony-formation, proangiogenesis, migration and invasion in lung adenocarcinoma cells., [RefSeq, PubMed]; Actin-like protein 8, a member of cancer/testis antigens, supports the aggressive development of oral squamous cell carcinoma cells via activating cell cycle 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q13104;Q96M75", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0098973 structural constituent of postsynaptic actin cytoskeleton", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005884 actin filament;GO:0015629 actin cytoskeleton;GO:0016020 membrane;GO:0030424 axon", "go_biological_process": "GO:0007409 axonogenesis;GO:0030855 epithelial cell differentiation;GO:0048870 cell motility", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9H568-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWT8-1", "uniprot_id": [ { "id": "AKIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWT8", "type": "external" } ], "mass": 22354.0, "length": 199, "protein_name": "Small ribosomal subunit protein bS22, mitochondrial", "gene_name": "AURKAIP1", "organism": "Human", "refseq_name": "small ribosomal subunit protein bS22, mitochondrial", "refseq_ac": [ { "id": "NP_001120701", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120701", "type": "external" } ], "gene_names_uniprotkb": "AURKAIP1; AIP; AKIP; MRPS38", "gene_names_refseq": "AIP; AKIP; AURKAIP1; Cox24; MRP-S38; mS38", "protein_names_uniprotkb": "Small ribosomal subunit protein bS22, mitochondrial; 28S ribosomal protein S38, mitochondrial; AURKA-interacting protein; Aurora kinase A-interacting protein; MRP-S38; Small ribosomal subunit protein mS38", "protein_names_refseq": "28S ribosomal protein S38, mitochondrial; AURKA-interacting protein; aurora kinase A-interacting protein; aurora-A kinase interacting protein; mitochondrial small ribosomal subunit protein mS38; small ribosomal subunit protein bS22, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:54998); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 69, "publication_id_list": "12244051;15271856;15358359;17803939;17957726;18429816;18782833;19524667;19716793;20186120;21907147;22172991;2250005;23481700;23908630;24715725;25233460;25418920;25576301;25645385;25838379;26154972;26375851;26728094;26811146;26929215;26992070;27029019;27184847;27846572;27920218;28063628;28218747;28832583;28892042;29242379;29393594;29493099;29508533;29557506;29632046;30192525;30315122;31154438;31217245;31844290;31848261;31937595;32157095;32161166;32265295;32387766;32502341;32938616;33141586;33243891;33298915;33878294;33936100;33968037;34211107;34357683;35051231;36302763;36596788;37141370;38040691;38253038;40596516", "class_list": "", "function": "AURKAIP1 actuates tumor progression through stabilizing DDX5 in triple negative breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; May act as a negative regulator of Aurora-A kinase, by down-regulation through proteasome-dependent degradation., [UniProtKB]; Phe31Ile polymorphism in Aurora A may be a genetic modifier for developing breast carcinoma., [RefSeq, PubMed]; Results describe the identification of a novel negative regulator of Aurora-A, named AIP (Aurora-A kinase Interacting 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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5TA36;Q8TBD3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0045862 positive regulation of proteolysis;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q9NWT8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULX6-1", "uniprot_id": [ { "id": "AKP8L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULX6", "type": "external" } ], "mass": 71640.0, "length": 646, "protein_name": "A-kinase anchor protein 8-like", "gene_name": "AKAP8L", "organism": "Human", "refseq_name": "A-kinase anchor protein 8-like isoform 2", "refseq_ac": [ { "id": "NP_001278407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278407", "type": "external" } ], "gene_names_uniprotkb": "AKAP8L; HRIHFB2018; NAKAP95; NAKAP", "gene_names_refseq": "AKAP8L; HA95; HAP95; NAKAP95; NAKAP", "protein_names_uniprotkb": "A-kinase anchor protein 8-like; AKAP8-like protein; HA95; HAP95; Helicase A-binding protein 95; Homologous to AKAP95 protein; Neighbor of A-kinase-anchoring protein 95; Neighbor of AKAP95", "protein_names_refseq": "A kinase (PRKA) anchor protein 8-like; A-kinase anchor protein 8-like isoform 2; A-kinase anchor protein 8-like; AKAP8-like protein; helicase A-binding protein 95 kDa; homologous to AKAP95 protein; neighbor of A-kinase anchoring protein 95; neighbor of AKAP95; testis tissue sperm-binding protein Li 90mP", "tax_id": 9606, "disease": "", "pathway": " (hsa:26993); (R-HSA-9772755)", "pathway_count": 2, "publication_count": 156, "publication_id_list": "10697960;10748171;10761695;11034899;11160753;11237011;11402034;11884601;12393701;12482972;12538639;12670868;12950172;14636557;14992727;15199122;16227571;16239140;16391387;16829959;16878130;16892064;16980585;17355966;17500065;17594903;17612494;17671196;17925232;17998332;18313049;18598942;18669648;18691976;18829457;18829459;18838386;18838538;19054851;19103755;19124460;19187761;19556245;19608861;20018852;20068231;20575550;20716525;20961854;21106533;21124902;21131905;21135039;21220120;22266653;22327296;22652693;22665483;22898188;23186163;23481700;23508102;23995757;24129315;24244196;24368734;24680668;24715725;25034436;25561738;25576301;25593305;25645385;25892735;26154972;26324722;26375851;26811146;26886794;26992070;27563068;27600516;27698142;27760318;27862975;28182322;28218747;28228285;28398509;28510447;28832583;28834231;28904123;29138278;29242379;29437277;29493099;29557506;29632711;29769354;29786170;29897600;29937342;30315122;30429286;30524438;30779550;30833945;31154438;31217245;31400120;31485071;31544921;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33298915;33592498;33657400;33691108;33836029;33912179;33968037;33981976;34012049;34019948;34087483;34171305;34405274;34509645;34932366;34933446;35033534;35051231;35190547;35251023;35439434;35561310;35580925;35792657;36284347;36522343;37683130;37938771;39894887;9853615", "class_list": "", "function": "(Microbial infection) Can synergize with DHX9 to activate the CTE-mediated gene expression of type D retroviruses., [UniProtKB, PubMed]; (Microbial infection) In case of EBV infection, may target PRKACA to EBNA-LP-containing nuclear sites to modulate transcription from specific promoters., [UniProtKB, PubMed]; (Microbial infection) In case of HIV-1 infection, involved in the DHX9-promoted annealing of host tRNA(Lys3) to viral genomic RNA as a primer in reverse transcription; in vitro negatively regulates DHX9 annealing activity., [UniProtKB, PubMed]; AKAP8L enhances the stemness and chemoresistance of gastric cancer cells by stabilizing SCD1 mRNA. Publication Status: Online-Only, [RefSeq, PubMed]; Could play a role in constitutive transport element (CTE)-mediated gene expression by association with DHX9. Increases CTE-dependent nuclear unspliced mRNA export (PubMed:10748171, PubMed:11402034). Proposed to target PRKACA to the nucleus but does not seem to be implicated in the binding of regulatory subunit II of PKA (PubMed:10761695, PubMed:11884601). May be involved in nuclear envelope breakdown and chromatin condensation. May be involved in anchoring nuclear membranes to chromatin in interphase and in releasing membranes from chromating at mitosis (PubMed:11034899). May regulate the initiation phase of DNA replication when associated with TMPO isoform Beta (PubMed:12538639). Required for cell cycle G2/M transition and histone deacetylation during mitosis. In mitotic cells recruits HDAC3 to the vicinity of chromatin leading to deacetylation and subsequent phosphorylation at 'Ser-10' of histone H3; in this function seems to act redundantly with AKAP8 (PubMed:16980585). May be involved in regulation of pre-mRNA splicing (PubMed:17594903)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Integrative analysis identifies AKAP8L as an immunological and prognostic biomarker of pan-cancer., [RefSeq, PubMed]; Novel prognostic model predicts overall survival in colon cancer based on RNA splicing regulation 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B4DJ74;B5BU90;O94792;Q96J58;Q9NRQ0;Q9UGM0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0042826 histone deacetylase binding;GO:0034237 protein kinase A regulatory subunit binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0016363 nuclear matrix", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006397 mRNA processing;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007076 mitotic chromosome condensation;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 15.9, "record_id": "Q9ULX6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94778-1", "uniprot_id": [ { "id": "AQP8_HUMAN", "url": "https://www.uniprot.org/uniprot/O94778", "type": "external" } ], "mass": 27381.0, "length": 261, "protein_name": "Aquaporin-8", "gene_name": "AQP8", "organism": "Human", "refseq_name": "aquaporin-8", "refseq_ac": [ { "id": "NP_001160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001160", "type": "external" } ], "gene_names_uniprotkb": "AQP8", "gene_names_refseq": "AQP-8; AQP8", "protein_names_uniprotkb": "Aquaporin-8; AQP-8", "protein_names_refseq": "aquaporin-8", "tax_id": 9606, "disease": "brain ischemia (Disease Ontology:DOID:2316)", "pathway": " (hsa:343); (R-HSA-3299685); (R-HSA-432047); (R-HSA-9925561)", "pathway_count": 4, "publication_count": 143, "publication_id_list": "10029572;10510269;10514471;10521424;10564231;10656833;10833429;10919671;10982;11001937;11018045;11027599;11034202;11076974;11139407;11231887;11237011;11507097;11518528;11532455;11573934;11886899;11912930;11952783;12084581;12446202;12801959;12829378;1373524;14514735;14592814;14701836;15044467;15046979;15064408;1510932;15280035;15317809;15596429;15703994;15927447;15948717;16325777;16401067;16407156;16596446;16615992;1668270;16750198;16880213;16959974;17178220;17275676;17374283;17519234;1763037;17707404;17920625;18202181;18358825;18501347;18511455;18555844;18678926;18703498;18762715;18768791;18936159;18948439;19144687;19170255;19219623;19383790;19542232;19574955;19590626;19857466;1999334;20070187;20144166;20147624;20367259;20690882;2071038;21215271;21251984;21385867;21393238;21967640;22493009;22622463;22869735;22910329;23152058;23164639;23359558;23454490;23455484;23541115;25047527;26972385;29732408;3049610;30579780;34292591;3457020;3532102;3619451;36792433;3693360;37081713;37296655;38742677;5389100;60;6286671;6961438;7021796;7172448;7487923;7510718;7530250;7535000;7678419;807573;8140421;8379940;8428933;8452552;8621489;8663465;8812490;8855281;9295278;9325099;9369223;9369468;9405233;9639555;9726962;9806845;9829975;9923614", "class_list": "", "function": "AQP8 Modulates Mitochondrial H2O2 Transport to Influence Glioma Proliferation., [RefSeq, PubMed]; AQP8 may affect glioma proliferation and growth by regulating GSK-3beta phosphorylation and nuclear transport of beta-catenin., [RefSeq, PubMed]; Adenoviral Transfer of Human Aquaporin-8 Gene to Mouse Liver Improves Ammonia-Derived Ureagenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, Jul 2008]., [RefSeq]; Channel that allows the facilitated permeation of water and uncharged molecules, such as hydrogen peroxide and the neutral form of ammonia (NH3), through cellular membranes such as plasma membrane, inner mitochondrial membrane and endoplasmic reticulum membrane of several tissues (PubMed:15948717, PubMed:18948439, PubMed:23541115, PubMed:26972385, PubMed:29732408, PubMed:30579780). The transport of the ammonia neutral form induces a parallel transport of proton, at alkaline pH when the concentration of ammonia is high (By similarity). However, it is unclear whether the transport of proton takes place via the aquaporin or via an endogenous pathway (By similarity). Also, may transport ammonia analogs such as formamide and methylamine, a transport favourited at basic pH due to the increase of unprotonated (neutral) form, which is expected to favor diffusion (PubMed:15948717). Does not transport urea or glycerol (PubMed:15948717). The water transport mechanism is mercury- and copper-sensitive and passive in response to osmotic driving forces (PubMed:15948717). At the canicular plasma membrane, mediates the osmotic transport of water toward the bile canaliculus and facilitates the cAMP-induced bile canalicular water secretion, a process involved in bile formation (PubMed:18948439). In addition, mediates the hydrogen peroxide release from hepatocyte mitochondria that modulates the SREBF2-mediated cholesterol synthesis and facilitates the mitochondrial ammonia uptake which is metabolized into urea, mainly under glucagon stimulation (PubMed:30579780, PubMed:34292591). In B cells, transports the CYBB-generated hydrogen peroxide from the external leaflet of the plasma membrane to the cytosol to promote B cell activation and differentiation for signal amplification (By similarity). In the small intestine and colon system, mediates water transport through mitochondria and apical membrane of epithelial cells (By similarity). May play an important role in the adaptive response of proximal tubule cells to acidosis possibly by facilitating the mitochondrial ammonia transport (PubMed:22622463)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Osmotic pressure induces translocation of aquaporin-8 by P38 and JNK MAPK signaling pathways in patients with functional constipation., [RefSeq, PubMed]; The crystal structure of deoxyhemoglobin S, 2HBS, demonstrates the interaction of the mutant valine with another hemoglobin tetramer and provides insights into formation of the intracellular sickle cell fiber., [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": 10, "reported_glycation": 0, "reported_snv": 6, "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": "Q8IUU3;Q9UIA4", "ec_number_list": [], "go_molecular_function": "GO:0015250 water channel activity;GO:0015265 urea channel activity;GO:0008519 ammonium channel activity;GO:0015264 methylammonium channel activity", "go_cellular_component": "GO:0097708 intracellular vesicle;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005790 smooth endoplasmic reticulum;GO:0005886 plasma membrane", "go_biological_process": "GO:0071320 cellular response to cAMP;GO:0045540 regulation of cholesterol biosynthetic process;GO:0030183 B cell differentiation;GO:0006833 water transport;GO:0015840 urea transport", "synthesized_glycan_count": 0, "hit_score": 14.4, "record_id": "O94778-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A1A5B4-1", "uniprot_id": [ { "id": "ANO9_HUMAN", "url": "https://www.uniprot.org/uniprot/A1A5B4", "type": "external" } ], "mass": 90333.0, "length": 782, "protein_name": "Anoctamin-9", "gene_name": "ANO9", "organism": "Human", "refseq_name": "anoctamin-9 isoform 1", "refseq_ac": [ { "id": "NP_001012302", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012302", "type": "external" } ], "gene_names_uniprotkb": "ANO9; PIG5; TMEM16J; TP53I5", "gene_names_refseq": "ANO9; PIG5; TMEM16J; TP53I5", "protein_names_uniprotkb": "Anoctamin-9; Transmembrane protein 16J; Tumor protein p53-inducible protein 5; p53-induced gene 5 protein", "protein_names_refseq": "anoctamin-9 isoform 1; p53-induced gene 5 protein; transmembrane protein 16J; tumor protein p53-inducible protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:338440); (R-HSA-2672351); (R-HSA-9733458)", "pathway_count": 3, "publication_count": 134, "publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;11182090;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19620632;19808995;19953639;20056604;20388639;20466723;20525693;20538786;21040849;21527911;21607626;21642943;21984732;22002868;22178883;22302790;22773952;22946059;2298749;23112050;2321095;23481700;23616951;24190977;2536303;26359375;26562072;28063628;28071645;28154142;28218747;28790369;29242379;29604966;29632046;31217245;31844290;32125455;32227267;32350084;32362314;32512386;32532959;32703818;32721790;32942285;33051876;33141586;33310888;33404124;33493182;33494095;33581114;33827113;33890572;33912179;34185709;34213849;34504087;34528721;34561887;34613786;34732583;34929169;35051231;35343766;35494241;36241641;36330924;36520003;37074911;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "ANO9 Regulated Cell Cycle in Human Esophageal Squamous Cell Carcinoma., [RefSeq, PubMed]; ANO9 is a cation channel activated by a cAMP/PKA pathway and could play a role in intestine function., [RefSeq, PubMed]; ANO9 regulates PD-L2 expression and binding ability to PD-1 in gastric cancer., [RefSeq, PubMed]; PKA-activated nonselective cation channel (PubMed:29604966). Discriminates poorly among cations but is more permeable to Ca(2+) ions than to monovalent cations (By similarity). Acts as a calcium-activated calcium permeable channel which may operate as a endoplasmic reticulum (ER) Ca(2+)-leak channel, reducing the loading of the ER Ca(2+) store (PubMed:36520003). Regulates intracellular Ca2+ signals, ion channel activity, and cytokine release in the renal tissue (PubMed:36520003). Plays an important role in olfaction, amplifying cAMP-evoked cyclic nucleotide-gated (CNG) channel currents in the olfactory sensory neurons (By similarity). Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity (PubMed:22178883). Can inhibit the activity of ANO1 (PubMed:20056604, PubMed:22946059)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the TMEM16 (anoctamin) family of proteins, some of which form integral membrane calcium-activated chloride channels. The function of the encoded protein has yet to be elucidated, although it may have channel-forming abilities and also may have phospholipid scramblase activity. This gene has been observed to be upregulated in stage II and III colorectal cancers. [provided by RefSeq, Dec 2016]., [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": 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": 0, "reported_glycation": 0, "reported_snv": 31, "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": "B3KUC4;B4E134;Q8TEN4", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec: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": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0019869 chloride channel inhibitor activity;GO:0005262 calcium channel activity;GO:0046983 protein dimerization activity;GO:0015267 channel activity;GO:0005229 intracellularly calcium-gated chloride channel activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0034220 monoatomic ion transmembrane transport;GO:1902476 chloride transmembrane transport;GO:0007608 sensory perception of smell;GO:0061589 calcium activated phosphatidylserine scrambling", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "A1A5B4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NC57-1", "uniprot_id": [ { "id": "ANR62_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NC57", "type": "external" } ], "mass": 106446.0, "length": 917, "protein_name": "Ankyrin repeat domain-containing protein 62", "gene_name": "ANKRD62", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 62", "refseq_ac": [ { "id": "NP_001264262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264262", "type": "external" } ], "gene_names_uniprotkb": "ANKRD62", "gene_names_refseq": "ANKRD62; DKFZp779B1634", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 62", "protein_names_refseq": "ankyrin repeat domain-containing protein 62", "tax_id": 9606, "disease": "", "pathway": " (hsa:342850)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "25576301;27893789;29242379;29632711;29671580;30379171;31844290;32387766;32938616;33968037;35051231;35580925;37074911", "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 3, "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": 2.2, "record_id": "A6NC57-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00203-1", "uniprot_id": [ { "id": "AP3B1_HUMAN", "url": "https://www.uniprot.org/uniprot/O00203", "type": "external" } ], "mass": 121320.0, "length": 1094, "protein_name": "AP-3 complex subunit beta-1", "gene_name": "AP3B1", "organism": "Human", "refseq_name": "AP-3 complex subunit beta-1 isoform 2", "refseq_ac": [ { "id": "NP_001258698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258698", "type": "external" } ], "gene_names_uniprotkb": "AP3B1; ADTB3A", "gene_names_refseq": "ADTB3A; ADTB3; AP3B1; HPS2; HPS; PE", "protein_names_uniprotkb": "AP-3 complex subunit beta-1; Adaptor protein complex AP-3 subunit beta-1; Adaptor-related protein complex 3 subunit beta-1; Beta-3A-adaptin; Clathrin assembly protein complex 3 beta-1 large chain", "protein_names_refseq": "AP-3 complex beta-3A subunit; AP-3 complex subunit beta-1 isoform 2; adaptor protein complex AP-3 subunit beta-1; adaptor related protein complex 3 beta 1 subunit; beta-3A-adaptin; clathrin assembly protein complex 3 beta-1 large chain", "tax_id": 9606, "disease": "Hermansky-Pudlak syndrome 1 (Disease Ontology:DOID:0060539); Hermansky-Pudlak syndrome 2 (Disease Ontology:DOID:0060540); neutropenia (Disease Ontology:DOID:1227); platelet storage pool deficiency (Disease Ontology:DOID:2223); interstitial lung disease (Disease Ontology:DOID:3082); Hermansky-Pudlak syndrome (Disease Ontology:DOID:3753); pulmonary fibrosis (Disease Ontology:DOID:3770)", "pathway": " (hsa:8546); (R-HSA-432722); (R-HSA-6802952)", "pathway_count": 3, "publication_count": 121, "publication_id_list": "10024875;10394364;10608806;11237011;11590181;11604418;11694590;11994746;15102850;15630448;16155256;17081983;17116749;17322306;18088087;18669648;18691976;18707149;18767875;18974108;19413330;19651622;19664994;19934039;20068231;20166139;20230923;20526349;21406692;21424530;22745804;23186163;23301498;23481700;23583981;24135138;24345920;24714562;24715725;25204415;25576301;25645385;25907612;26154972;26728094;26768311;26811146;26992070;28218747;28228285;28446606;28585318;28832583;28834231;28860189;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30429286;30630984;31154438;31844290;31848261;32119511;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33836029;33867526;33912179;33936100;33968037;34019948;34171305;34211107;34357683;34509645;34637926;34932366;35051231;35154160;35251023;35318648;35494241;35580925;36010968;36215666;36241641;36284347;37217939;37938771;38665916;40914422;41350704;8374173;8524399;8670264;9151686;9182526;9502801", "class_list": "", "function": "Data show that defects in adaptor protein complex 3-dependent maturation of Weibel-Palade bodies impairs exocytosis by affecting the recruitment of VAMP8., [RefSeq, PubMed]; Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms., [RefSeq, PubMed]; HDL cholesterol concentrations and risk of atherosclerotic cardiovascular disease - Insights from randomized clinical trials and human genetics. Review article, [RefSeq, PubMed]; Point mutation c.2702C>G in exon 23 of the AP3B1 gene caused deletion of 112 bp in the mRNA in two siblings. This mutation activates a cryptic donor splice site that overrules the wild-type donor splice site of this exon. Three other novel mutations in AP3B1 were identified, that is, a nonsense mutation c.716G>A (p.Trp239Ter), a 1-bp and a 4-bp deletion c.177delA and c.1839_1842delTAGA, respectively, [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, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 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": 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": 58, "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": "E5RJ68;O00580;Q7Z393;Q9HD66", "ec_number_list": [], "go_molecular_function": "GO:0030742 GTP-dependent protein binding;GO:0019903 protein phosphatase binding;GO:0030276 clathrin binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0005765 lysosomal membrane;GO:0030665 clathrin-coated vesicle 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": 12.5, "record_id": "O00203-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14791-1", "uniprot_id": [ { "id": "APOL1_HUMAN", "url": "https://www.uniprot.org/uniprot/O14791", "type": "external" } ], "mass": 43974.0, "length": 398, "protein_name": "Apolipoprotein L1", "gene_name": "APOL1", "organism": "Human", "refseq_name": "apolipoprotein L1 isoform a precursor", "refseq_ac": [ { "id": "NP_001130012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130012", "type": "external" } ], "gene_names_uniprotkb": "APOL1; APOL", "gene_names_refseq": "APO-L; APOL-I; APOL1; APOL; FSGS4", "protein_names_uniprotkb": "Apolipoprotein L1; Apo-L; ApoL-I; ApoL; Apolipoprotein L-I; Apolipoprotein L", "protein_names_refseq": "apolipoprotein L 1; apolipoprotein L1 isoform a precursor; apolipoprotein L1-B3", "tax_id": 9606, "disease": "kidney disease (Disease Ontology:DOID:557); focal segmental glomerulosclerosis 4, susceptibility to (MONDO:MONDO:0012931)", "pathway": " (hsa:8542); (R-HSA-2168880); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 4, "publication_count": 192, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10026136;10077652;1008494;10218588;10381560;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11196644;11237011;11250653;11264294;11290834;11316783;11374903;11522292;11606061;11739083;11751371;11788658;11877257;11944986;12241545;12379487;12466191;1252417;12621437;12810533;12904166;13342742;13472068;1370451;1383255;15126567;15308688;15448162;15469690;15485880;15525596;15542058;15642270;15697213;15947085;16020735;16046400;16189277;16335952;1646599;16778136;16959974;17008602;17047378;17074750;17102136;17249697;17312271;17845074;17985932;18477386;18556779;18702456;19324878;19650691;19824718;19997494;20166139;20430887;20635188;20647424;20920479;22424782;22492620;22544926;22922649;23481700;23584533;24029068;24275569;24366607;24715725;2476804;2479552;25502872;25576301;25645385;25813380;25892735;26091039;26154972;26375851;26645690;26992070;27397612;27846572;27862975;2806549;2833500;28904123;29493099;29557506;30429286;30459171;30484775;31154438;31611695;31844290;32157095;32350084;32357974;32373127;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34078123;34087483;34211107;34357683;34433824;34509645;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38360481;38542298;38714935;38838223;3891754;39171649;4074707;4327491;496916;5135507;6480598;6849882;7263686;7287740;7378053;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;7723792;8424694;8781553;8817670;8855948;8894645;8964575;9325276;9497324;9709957;971416;9733769;9786878;9922210", "class_list": "", "function": "APOL1 polymorphisms are not influencing acute coronary syndrome risk in Czech males., [RefSeq, PubMed]; African ancestry-derived APOL1 risk genotypes show proximal epigenetic associations. Publication Status: Online-Only, [RefSeq, PubMed]; IFI16 Is Indispensable for Promoting HIF-1alpha-Mediated APOL1 Expression in Human Podocytes under Hypoxic Conditions. Publication Status: Online-Only, [RefSeq, PubMed]; Interferon-gamma induces combined pyroptotic angiopathy and APOL1 expression in human kidney disease., [RefSeq, PubMed]; May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver. A component of trypanosome lytic factor of human serum; plays a crucial role in killing Trypanosoma brucei by forming pores in parasite lysosomal membranes and sensitizing T.brucei to oxidation-stimulated osmotic lysis (PubMed:12621437, PubMed:16020735, PubMed:19997494, PubMed:26645690, PubMed:7723792)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Phenome-wide analysis reveals epistatic associations between APOL1 variants and chronic kidney disease and multiple other disorders., [RefSeq, PubMed]; This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different 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": 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": 2, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A5PLQ4;B4DU12;E9PF24;O60804;Q5R3P7;Q5R3P8;Q96AB8;Q96PM4;Q9BQ03", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding;GO:0005254 chloride channel activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0016020 membrane;GO:0034364 high-density lipoprotein particle", "go_biological_process": "GO:0006869 lipid transport;GO:0008203 cholesterol metabolic process;GO:0042157 lipoprotein metabolic process;GO:0045087 innate immune response;GO:1902476 chloride transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 20.0, "record_id": "O14791-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14862-1", "uniprot_id": [ { "id": "AIM2_HUMAN", "url": "https://www.uniprot.org/uniprot/O14862", "type": "external" } ], "mass": 38954.0, "length": 343, "protein_name": "Interferon-inducible protein AIM2", "gene_name": "AIM2", "organism": "Human", "refseq_name": "interferon-inducible protein AIM2 isoform 1", "refseq_ac": [ { "id": "NP_004824", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004824", "type": "external" } ], "gene_names_uniprotkb": "AIM2", "gene_names_refseq": "AIM2; PYHIN4", "protein_names_uniprotkb": "Interferon-inducible protein AIM2; Absent in melanoma 2", "protein_names_refseq": "interferon-inducible protein AIM2 isoform 1; interferon-inducible protein AIM2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9447); (R-HSA-1834949); (R-HSA-844615)", "pathway_count": 3, "publication_count": 63, "publication_id_list": "11237011;15582594;16432157;17726700;19158675;19158676;19158679;19609254;19631370;20566831;21398614;22046441;22483801;22801494;22869553;23251783;23388631;23481700;23530044;24397554;24406744;24531343;25505266;26197926;26583071;26811146;27498865;27846572;27920218;28218747;28832583;28834231;28904123;29242379;29437277;29440442;29493099;29508533;29557506;29632046;29632711;29786170;31530632;31844290;32350084;32488085;32938616;32983136;33691108;33717175;33968037;33980849;34211107;35494241;36228153;37364111;38251918;38594840;38731826;38734775;38869352;8454910;9242382", "class_list": "", "function": "AIM2 inflammasome regulated by the IFN-gamma/JAK2/STAT1 pathway promotes activation and pyroptosis of monocytes in Coronary Artery Disease., [RefSeq, PubMed]; AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008]., [RefSeq]; Also acts as a tumor suppressor independently of its role in inflammatory response (PubMed:16432157). Able to suppress overt cell proliferation in enterocytes: restricts stem cell proliferation in the intestinal mucosa in an inflammasome-independent manner, contributing to a decrease in the likelihood of colorectal cancer development (By similarity). AIM2 suppresses cell proliferation by inhibiting phosphorylation of AKT1 at 'Ser-473', preventing AKT1 activation and AKT-mTOR signaling pathway (By similarity). Inhibits AKT1 phosphorylation both by inhibiting the activity of PRKDC/DNA-PK kinase and promoting dephosphorylation by PP2A phosphatase (By similarity). Also acts as a key regulator of regulatory T-cells (Treg) homeostasis by promoting their stability: acts by preventing AKT1 activation (By similarity). Its role in Treg homeostasis is important to restain autoimmune diseases (By similarity)., [UniProtKB, UniProtKB, PubMed]; Cutting Edge: Cytosolic Receptor AIM2 Is Induced by Peroxisome Proliferator-activated Receptor gamma following Mycobacterium tuberculosis Infection of Human Macrophages but Does Not Contribute to IL-1beta Release., [RefSeq, PubMed]; Cytosolic DNA sensor AIM2 promotes KRAS-driven lung cancer independent of inflammasomes., [RefSeq, PubMed]; Herpes Simplex Virus ICP27 Protein Inhibits AIM 2-Dependent Inflammasome Influencing Pro-Inflammatory Cytokines Release in Human Pigment Epithelial Cells (hTert-RPE 1). Publication Status: Online-Only, [RefSeq, PubMed]; Inflammatory corpuscle AIM2 facilitates macrophage foam cell formation by inhibiting cholesterol efflux protein ABCA1. Publication Status: Online-Only, [RefSeq, PubMed]; Sensor component of the AIM2 inflammasome, which mediates inflammasome activation in response to the presence of double-stranded DNA (dsDNA) in the cytosol, leading to subsequent pyroptosis (PubMed:17726700, PubMed:19158675, PubMed:19158676, PubMed:19158679, PubMed:20566831, PubMed:23530044, PubMed:26197926, PubMed:26583071, PubMed:29440442, PubMed:33980849, PubMed:37364111). Inflammasomes are supramolecular complexes that assemble in the cytosol in response to pathogens and other damage-associated signals and play critical roles in innate immunity and inflammation (PubMed:17726700, PubMed:19158675, PubMed:19158676, PubMed:19158679, PubMed:20566831, PubMed:26197926, PubMed:29440442, PubMed:33980849). Acts as a recognition receptor (PRR): specifically recognizes and binds dsDNA in the cytosol, and mediates the formation of the inflammasome polymeric complex composed of AIM2, CASP1 and PYCARD/ASC (PubMed:17726700, PubMed:19158675, PubMed:19158676, PubMed:19158679, PubMed:20566831, PubMed:26197926, PubMed:29440442, PubMed:33980849). Recruitment of pro-caspase-1 (proCASP1) to the AIM2 inflammasome promotes caspase-1 (CASP1) activation, which subsequently cleaves and activates inflammatory cytokines IL1B and IL18 and gasdermin-D (GSDMD), promoting cytokine secretion (PubMed:17726700, PubMed:19158675, PubMed:19158676, PubMed:19158679, PubMed:20566831). In some cells, CASP1 activation mediates cleavage and activation of GSDMD, triggering pyroptosis without promoting cytokine secretion (PubMed:19158675, PubMed:19158676). Detects cytosolic dsDNA of viral and bacterial origin in a non-sequence-specific manner (PubMed:17726700, PubMed:19158675, PubMed:19158676, PubMed:19158679, PubMed:20566831, PubMed:26197926, PubMed:26583071, PubMed:29440442, PubMed:33980849). Involved in the DNA damage response caused by acute ionizing radiation by mediating pyroptosis of intestinal epithelial cells and bone marrow cells in response to double-strand DNA breaks (By similarity). Mechanistically, AIM2 senses DNA damage in the nucleus to mediate inflammasome assembly and inflammatory cell death (By similarity). Also acts as a regulator of neurodevelopment via its role in the DNA damage response: acts by promoting neural cell death in response to DNA damage in the developing brain, thereby purging genetically compromised cells of the central nervous system (By similarity). Pyroptosis mediated by the AIM2 inflammasome in response to DNA damage is dependent on GSDMD without involving IL1B and IL18 cytokine secretion (By similarity). Also acts as a mediator of pyroptosis, necroptosis and apoptosis (PANoptosis), an integral part of host defense against pathogens, in response to bacterial infection (By similarity). Can also trigger PYCARD/ASC-dependent, caspase-1-independent cell death that involves caspase-8 (CASP8) (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 34, "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": "A8K7M7;Q5T3V9;Q96FG9", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0003690 double-stranded DNA binding;GO:0035591 signaling adaptor activity;GO:0038187 pattern recognition receptor activity;GO:0140608 cysteine-type endopeptidase activator activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0035861 site of double-strand break", "go_biological_process": "GO:0002221 pattern recognition receptor signaling pathway;GO:0006955 immune response;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0070050 neuron cellular homeostasis", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "O14862-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43299-1", "uniprot_id": [ { "id": "AP5Z1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43299", "type": "external" } ], "mass": 88605.0, "length": 807, "protein_name": "AP-5 complex subunit zeta-1", "gene_name": "AP5Z1", "organism": "Human", "refseq_name": "AP-5 complex subunit zeta-1 isoform 1", "refseq_ac": [ { "id": "NP_055670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055670", "type": "external" } ], "gene_names_uniprotkb": "AP5Z1; KIAA0415; SPG48", "gene_names_refseq": "AP5Z1; KIAA0415; SPG48; zeta", "protein_names_uniprotkb": "AP-5 complex subunit zeta-1; Adaptor-related protein complex 5 zeta subunit; Zeta5", "protein_names_refseq": "AP-5 complex subunit zeta-1 isoform 1; AP-5 complex subunit zeta-1; adapter-related protein complex 5 zeta subunit; adaptor related protein complex 5 zeta 1 subunit; adaptor-related protein complex 5 zeta subunit; zeta5", "tax_id": 9606, "disease": "hereditary spastic paraplegia 48 (Disease Ontology:DOID:0110800); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:9907)", "pathway_count": 1, "publication_count": 84, "publication_id_list": "11237011;20613862;21993680;22022230;23481700;24714562;24715725;25576301;25645385;25802875;25892735;26154972;26728094;26811146;26992070;27543614;27600516;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29726929;29786170;29789417;30315122;30379171;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31844290;31848261;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34185709;34211107;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862 it is a putative helicase required for efficient homologous recombination DNA double-strand break repair., [UniProtKB, PubMed, PubMed]; Here, we have generated induced pluripotent stem cells (iPSCs) from patients with two autosomal recessive forms of hereditary spastic paraplegia (HSP) , SPG15 and SPG48, which are caused by mutations in the ZFYVE26 and AP5Z1 genes encoding proteins in the same complex, the spastizin and AP5Z1 proteins, respectively., [RefSeq, PubMed]; This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8N3X2;Q96H80", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0005764 lysosome", "go_biological_process": "GO:0015031 protein transport;GO:0007040 lysosome organization;GO:0016197 endosomal transport;GO:0016192 vesicle-mediated transport;GO:0000724 double-strand break repair via homologous recombination", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "O43299-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43681-1", "uniprot_id": [ { "id": "GET3_HUMAN", "url": "https://www.uniprot.org/uniprot/O43681", "type": "external" } ], "mass": 38793.0, "length": 348, "protein_name": "ATPase GET3", "gene_name": "GET3", "organism": "Human", "refseq_name": "ATPase GET3", "refseq_ac": [ { "id": "NP_004308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004308", "type": "external" } ], "gene_names_uniprotkb": "GET3; ARSA; ASNA1; TRC40", "gene_names_refseq": "ARSA-I; ARSA1; ASNA-I; ASNA1; CMD2H; GET3; TRC40", "protein_names_uniprotkb": "ATPase GET3; 3.6.4.-; Arsenical pump-driving ATPase; Arsenite-stimulated ATPase; Guided entry of tail-anchored proteins factor 3, ATPase; Transmembrane domain recognition complex 40 kDa ATPase subunit; hARSA-I; hASNA-I", "protein_names_refseq": "ATPase GET3; arsA arsenite transporter, ATP-binding, homolog 1; golgi to ER traffic 3 homolog; transmembrane domain recognition complex 40 kDa ATPase subunit", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930); cancer (Disease Ontology:DOID:162); cardiomyopathy, dilated, 2H (MONDO:MONDO:0859358)", "pathway": " (hsa:439); (R-HSA-9609523)", "pathway_count": 2, "publication_count": 108, "publication_id_list": "15708368;16777091;17382883;18477612;20375064;20676083;21444755;21466504;21636303;21743475;23041287;23129660;23142665;23246001;23533635;24392163;24397554;24715725;25179605;25415308;25535373;25576301;25713138;25880248;26154972;26375851;26675233;26992070;27193484;27226539;27458190;27846572;27920218;28063628;28104892;28218747;28228285;28649982;28832583;28834231;28855257;28904123;29242231;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30192525;30315122;30410026;30484775;30524438;30833945;31154438;31217245;31461301;31530632;31611695;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32910895;32938616;32983136;33123756;33141586;33214551;33298915;33592498;33633747;33717175;33912179;33968037;33981976;34019948;34171305;34211107;34357683;34405274;34509645;34725712;34887561;35051231;35154160;35318648;35580925;36010968;36215666;36241641;36284347;37938771;37963916;40914422;8884272;9712828;9736449;9774623", "class_list": "", "function": "ATPase required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum (PubMed:17382883). Recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol. This complex then targets to the endoplasmic reticulum by membrane-bound receptors GET1/WRB and CAMLG/GET2, where the tail-anchored protein is released for insertion. This process is regulated by ATP binding and hydrolysis. ATP binding drives the homodimer towards the closed dimer state, facilitating recognition of newly synthesized TA membrane proteins. ATP hydrolysis is required for insertion. Subsequently, the homodimer reverts towards the open dimer state, lowering its affinity for the GET1-CAMLG receptor, and returning it to the cytosol to initiate a new round of targeting. May be involved in insulin signaling., [UniProtKB, PubMed, HAMAP, PubMed, PubMed, PubMed, PubMed]; Mutation in ASNA1 cause severe pediatric cardiomyopathy and early death. Erratum:[Circ Genom Precis Med. 2020 Jun;13(3):e000065. doi: 10.1161/HCG.0000000000000065. PMID: 32543991], [RefSeq, PubMed]; This gene represents the human homolog of the bacterial arsA gene, encoding the arsenite-stimulated ATPase component of the arsenite transporter responsible for resistance to arsenicals. This protein is also a central component of a transmembrane domain (TMD) recognition complex (TRC) that is involved in the post-translational delivery of tail-anchored (TA) proteins from the cytosol to the endoplasmic reticulum (ER). It recognizes and selectively binds the TMD of TA proteins in the cytosol, and delivers them to the ER for insertion. [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": 2, "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": "A6NHP8;A8K740;Q53FC6;Q92849", "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": "1.14.14.18", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.18", "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": "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:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0140597 protein carrier chaperone", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0070062 extracellular exosome;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0045048 protein insertion into ER membrane;GO:0071816 tail-anchored membrane protein insertion into ER membrane", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "O43681-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60678-1", "uniprot_id": [ { "id": "ANM3_HUMAN", "url": "https://www.uniprot.org/uniprot/O60678", "type": "external" } ], "mass": 59903.0, "length": 531, "protein_name": "Protein arginine N-methyltransferase 3", "gene_name": "PRMT3", "organism": "Human", "refseq_name": "protein arginine N-methyltransferase 3 isoform 1", "refseq_ac": [ { "id": "NP_005779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005779", "type": "external" } ], "gene_names_uniprotkb": "PRMT3; HRMT1L3", "gene_names_refseq": "HRMT1L3; PRMT3", "protein_names_uniprotkb": "Protein arginine N-methyltransferase 3; 2.1.1.319; Heterogeneous nuclear ribonucleoprotein methyltransferase-like protein 3", "protein_names_refseq": "HMT1 hnRNP methyltransferase-like 3; heterogeneous nuclear ribonucleoprotein methyltransferase-like protein 3; protein arginine N-methyltransferase 3 isoform 1; protein arginine N-methyltransferase 3", "tax_id": 9606, "disease": "asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:10196); (R-HSA-3214858); (R-HSA-8876725)", "pathway_count": 3, "publication_count": 98, "publication_id_list": "11237011;11341840;11448779;11747826;11751582;11756452;15175657;15334060;15485929;16118227;17215844;17898714;18079182;18404153;18452278;18669648;19234465;19413330;19415658;19690332;20068231;20951943;21059412;21316606;21406692;21774791;22223895;22231400;22424782;22795084;23186163;23301498;23349634;23445220;24715725;25144183;25231979;25416781;25576301;25728001;26154972;26375851;26545399;26992070;27600516;27697862;27920218;28121444;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29786170;29789417;30315122;30429286;30524438;30530495;31154438;31217245;31378783;31844290;31848261;32157095;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33495566;33691108;33717175;33912179;33936100;33968037;34211107;34509645;34932366;35051231;35318648;35561310;36010968;36400311;36637351;37024475;37217939;37973560;39513743;40914422;9642256", "class_list": "", "function": "DAL-1/4.1B protein significantly inhibits PRMT3 methylation of cellular substrates, which may affect mechanism through which DAL-1/4.1B affects tumor cell growth., [RefSeq, PubMed]; PRMT3 is a ribosomal protein methyltransferase that affects the cellular level of ribosomal subunits., [RefSeq, PubMed]; PRMT3 regulates the progression of invasive micropapillary carcinoma of the breast., [RefSeq, PubMed]; PRMT3-Mediated Arginine Methylation of METTL14 Promotes Malignant Progression and Treatment Resistance in Endometrial Carcinoma., [RefSeq, PubMed]; PRMT3-mediated arginine methylation of IGF2BP1 promotes oxaliplatin resistance in liver cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Protein arginine methyltransferase 3: A crucial regulator in metabolic reprogramming and gene expression in cancers. Review article, [RefSeq, PubMed]; Protein-arginine N-methyltransferase that catalyzes both the monomethylation and asymmetric dimethylation of the guanidino nitrogens of arginine residues in target proteins, and therefore falls into the group of type I methyltransferases (PubMed:22795084, PubMed:23445220, PubMed:25728001, PubMed:31378783, PubMed:33495566, PubMed:39513743). Catalyzes the asymmetric arginine dimethylation at multiple sites in the Arg/Gly-rich region of small ribosomal subunit protein uS5/RPS2 (PubMed:22795084). Also appears to methylate other ribosomal proteins (By similarity). May regulate retinoic acid synthesis and signaling by inhibiting ALDH1A1 retinal dehydrogenase activity (PubMed:33495566). Contributes to methylation of histone H4 'Arg-3', a specific tag for epigenetic transcriptional activation (PubMed:25728001, PubMed:31378783, PubMed:39513743). Mediates asymmetric arginine dimethylation of histone H4 'Arg-3' (H4R3me2a) in the promoter region of miRNA miR-3648, to promote its transcription and osteogenesis (PubMed:31378783)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts on 40S ribosomal protein S2 (rpS2), which is its major in-vivo substrate, and is involved in the proper maturation of the 80S ribosome. 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": 4, "reported_mutagensis": 9, "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": "A0A0A0MSN7;B4DUC7", "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:0008270 zinc ion binding;GO:0008168 methyltransferase activity;GO:0016274 protein-arginine N-methyltransferase activity;GO:0035242 protein-arginine omega-N asymmetric methyltransferase activity;GO:0042054 histone methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006355 regulation of DNA-templated transcription;GO:0045815 transcription initiation-coupled chromatin remodeling;GO:0006479 protein methylation;GO:0045669 positive regulation of osteoblast differentiation", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "O60678-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15145-1", "uniprot_id": [ { "id": "ARPC3_HUMAN", "url": "https://www.uniprot.org/uniprot/O15145", "type": "external" } ], "mass": 20547.0, "length": 178, "protein_name": "Actin-related protein 2/3 complex subunit 3", "gene_name": "ARPC3", "organism": "Human", "refseq_name": "actin-related protein 2/3 complex subunit 3 isoform 1", "refseq_ac": [ { "id": "NP_001265485", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265485", "type": "external" } ], "gene_names_uniprotkb": "ARPC3; ARC21", "gene_names_refseq": "ARC21; ARPC3; p21-Arc", "protein_names_uniprotkb": "Actin-related protein 2/3 complex subunit 3; Arp2/3 complex 21 kDa subunit; p21-ARC", "protein_names_refseq": "ARP2/3 protein complex subunit p21; actin related protein 2/3 complex, subunit 3, 21kDa; actin-related protein 2/3 complex subunit 3 isoform 1; arp2/3 complex 21 kDa subunit", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330); diabetes mellitus (Disease Ontology:DOID:9351)", "pathway": " (hsa:10094); (R-HSA-2029482); (R-HSA-3928662); (R-HSA-5663213); (R-HSA-8856828); (R-HSA-9664422)", "pathway_count": 6, "publication_count": 297, "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;11741539;11747816;11804587;11829459;11854399;11877457;11877461;11889126;12055636;12057195;12105426;12189515;12213210;12213833;12235133;12447393;12546821;12665801;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;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;19608861;19690332;19696796;19713939;19741094;19776351;19809571;19955216;20033059;20059951;20211604;20231386;20428113;20448150;20826345;20946875;21037092;21136679;2115402;21187331;21278753;21316588;21419341;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;2201922;22099461;22233676;22484487;22505844;22815487;22863004;22898188;23297414;23481700;23536704;23675550;23823722;23861397;23891661;24130457;24186068;24366607;24581490;24714562;24715725;2474607;24789820;24966051;25107275;25303366;25341920;25576301;25645385;25810538;25880248;26042225;26154972;26375851;26403691;26728094;26758079;26992070;27543614;27862975;27920218;28063628;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29925947;30315122;30429286;30524438;30779550;30833945;31217245;31222486;31530632;31611695;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32870666;32897882;32938616;32983136;33043033;33091337;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34509645;34561969;34725712;34932366;35051231;35154160;35318648;35561310;35580925;36215666;36241641;36284347;36581221;37938771;38665916;6146630;7478585;7848918;7877694;8524399;8552632;8809042;8986718;9092476;9100026;9230079;9359840;9427626;9428629;9600938;9635431;9705280;9736607;9799231;9843499;9883880;9885284", "class_list": "", "function": "Component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9230079). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:29925947). The Arp2/3 complex 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, UniProtKB, UniProtKB, UniProtKB]; This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been conserved through evolution and is implicated in the control of actin polymerization in cells. Alternatively spliced transcript variants have been found for this gene. [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": 1, "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": "O00554", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005200 structural constituent of cytoskeleton", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton;GO:0016020 membrane", "go_biological_process": "GO:0070358 actin polymerization-dependent cell motility;GO:0034314 Arp2/3 complex-mediated actin nucleation;GO:0030833 regulation of actin filament polymerization;GO:1900242 regulation of synaptic vesicle endocytosis", "synthesized_glycan_count": 0, "hit_score": 30.0, "record_id": "O15145-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P27540-1", "uniprot_id": [ { "id": "ARNT_HUMAN", "url": "https://www.uniprot.org/uniprot/P27540", "type": "external" } ], "mass": 86636.0, "length": 789, "protein_name": "Aryl hydrocarbon receptor nuclear translocator", "gene_name": "ARNT", "organism": "Human", "refseq_name": "aryl hydrocarbon receptor nuclear translocator isoform 4", "refseq_ac": [ { "id": "NP_001184254", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184254", "type": "external" } ], "gene_names_uniprotkb": "ARNT; BHLHE2", "gene_names_refseq": "ARNT1; ARNT; HIF-1-beta; HIF-1beta; HIF1-beta; HIF1BETA; HIF1B; TANGO; bHLHe2", "protein_names_uniprotkb": "Aryl hydrocarbon receptor nuclear translocator; ARNT protein; Class E basic helix-loop-helix protein 2; Dioxin receptor, nuclear translocator; HIF-1-beta; HIF1-beta; Hypoxia-inducible factor 1-beta; bHLHe2", "protein_names_refseq": "aryl hydrocarbon receptor nuclear translocator isoform 4; class E basic helix-loop-helix protein 2; dioxin receptor, nuclear translocator; hypoxia inducible factor 1 subunit beta; hypoxia-inducible factor 1, beta subunit", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); renal cell carcinoma (Disease Ontology:DOID:4450); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:405); (R-HSA-1234158); (R-HSA-1989781); (R-HSA-211945); (R-HSA-211976); (R-HSA-211981); (R-HSA-8937144); (R-HSA-9768919)", "pathway_count": 8, "publication_count": 233, "publication_id_list": "10.1101/2023.09.13.557529;10202154;10383923;10395741;10409767;10445380;10588945;10777541;10945627;11063749;11154734;11156414;11230166;11237011;11259606;11267664;11274138;11422004;11555828;11959977;11959990;12118000;12177166;12464245;12505311;12573486;12582161;12629583;12725862;12732646;1317062;1351198;14668441;14701734;15042513;15067378;15130092;15184875;15196988;15350128;15365656;15454734;15492766;15523003;15535985;15635043;15665333;16129408;16181639;16359177;16380219;16614850;16765324;16972786;1708392;17400359;1741400;17804822;17980155;18000031;18187047;18254726;18256025;18285471;1852076;18540824;18669648;18719978;18848529;19053771;19088433;19196990;19588076;19661213;19664994;19710929;19764817;19788888;19934321;20007405;20110263;20149798;20177059;2025243;20422440;20542992;20699359;20977903;21368041;21479871;21636783;2256920;22700792;22759865;22772592;22813719;23186163;23481700;23616950;23953689;24196956;24291638;24423752;24465693;24613356;24677340;24714562;24900196;25144769;25425164;25446851;25576301;25683712;25923589;2592361;26154972;26160453;26728094;26811146;26992070;27472814;27862975;28218747;28396409;28514659;28832583;28904123;28904176;2897122;29237092;29242379;29351928;29437277;29485866;29493099;29508533;29557506;29632711;29786170;30059200;3024157;30379171;3038528;30429286;30620550;31217245;31492838;31844290;32152082;32157095;32171872;32187464;32205870;32210741;32265295;32387766;32502341;32574038;32897882;32938616;32938750;32983136;33214551;33298915;33592498;33912179;33968037;33981976;34019948;34087483;34171305;34509645;34521881;34846842;3487786;35051231;35132862;35138101;35254053;35289036;35404107;35473600;35513511;35580925;36010968;36215666;36241641;36343253;37541260;37938771;38665916;38838015;39302247;39531497;39534244;40136647;40307207;40596516;6220203;7217086;7539918;7685352;7836384;7892212;7903454;7961644;7980644;8387214;8619637;8621524;8647822;8647857;8663540;8756616;8917528;8975785;8985016;9000051;9012850;9027736;9079689;9169443;9367528;9447995;9536209;9578606;9632793;9644715;9653080;9748239;9822602;9840812;9842986", "class_list": "", "function": "Alternative Splicing of the Aryl Hydrocarbon Receptor Nuclear Translocator (ARNT) Is Regulated by RBFOX2 in Lymphoid Malignancies., [RefSeq, PubMed]; Interaction between AhR and HIF-1 signaling pathways mediated by ARNT/HIF-1beta. Publication Status: Online-Only, [RefSeq, PubMed]; Structures of NPAS4-ARNT and NPAS4-ARNT2 heterodimers reveal new dimerization modalities in the bHLH-PAS transcription factor family., [RefSeq, PubMed]; This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor and aids in the movement of this complex to the nucleus, where it promotes the expression of genes involved in xenobiotic metabolism. This protein is also a co-factor for transcriptional regulation by hypoxia-inducible factor 1. Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]., [RefSeq]; Transcription factor that functions as an obligate heterodimerization partner for several basic helix-loop-helix PER-ARNT-SIM (bHLH-PAS) proteins. Forms heterodimers with the aryl hydrocarbon receptor (AHR) to mediate the transcriptional response to xenobiotics by binding xenobiotic response elements (XREs) or dioxin response elements (DREs) in target gene promoters (PubMed:28396409, PubMed:34521881). Also heterodimerizes with hypoxia-inducible factor alpha subunits (HIF1A, EPAS1, NPAS1 or NPAS3) to form hypoxia-inducible transcription factors that bind hypoxia response elements (HREs) and activate genes involved in cellular and systemic responses to hypoxia, including angiogenesis, erythropoiesis, and metabolic adaptation (PubMed:16181639, PubMed:20699359). Plays a central role in environmental sensing and developmental and physiological regulation of gene expression (PubMed:34521881)., [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": 2, "reported_o_glycosites_with_glycan": 17, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 17, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 17, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 3, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "B2R9H1;C4AMA1;F8WAP6;Q59ED4;Q5QP39;Q8NDC7", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0017162 aryl hydrocarbon receptor 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:0016604 nuclear body;GO:0034751 aryl hydrocarbon receptor complex", "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:0001666 response to hypoxia;GO:0010575 positive regulation of vascular endothelial growth factor production", "synthesized_glycan_count": 0, "hit_score": 25.7, "record_id": "P27540-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NP55-1", "uniprot_id": [ { "id": "BPIA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NP55", "type": "external" } ], "mass": 26713.0, "length": 256, "protein_name": "BPI fold-containing family A member 1", "gene_name": "BPIFA1", "organism": "Human", "refseq_name": "BPI fold-containing family A member 1 precursor", "refseq_ac": [ { "id": "NP_001230122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230122", "type": "external" } ], "gene_names_uniprotkb": "BPIFA1; LUNX; NASG; PLUNC; PRO1606; SPLUNC1; SPURT", "gene_names_refseq": "BPIFA1; LUNX; NASG; PLUNC; SPLUNC1; SPURT; bA49G10.5", "protein_names_uniprotkb": "BPI fold-containing family A member 1; Lung-specific protein X; Nasopharyngeal carcinoma-related protein; Palate lung and nasal epithelium clone protein; SPLUNC1; Secretory protein in upper respiratory tracts; Short PLUNC1; Tracheal epithelium-enriched protein; Von Ebner protein Hl", "protein_names_refseq": "BPI fold-containing family A member 1 precursor; ligand-binding protein RYA3; lung-specific protein X; nasopharyngeal carcinoma-related protein; palate lung and nasal epithelium clone protein; palate, lung and nasal epithelium associated; protein Plunc; secretory protein in upper respiratory tracts; short PLUNC1; tracheal epithelium enriched protein; von Ebner protein Hl", "tax_id": 9606, "disease": "otitis media (Disease Ontology:DOID:10754)", "pathway": " (hsa:51297); (R-HSA-6803157)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "11018263;11120840;11251963;11313366;11389039;11425234;11971875;12409287;12493837;12920053;12975309;13816;14506276;14739326;15158712;1522221;15229136;15778384;15826377;15956276;16054449;16215847;16336202;16354652;16354654;16374474;16799473;16931762;16940129;17363965;17502600;17567961;17964057;18021746;18160480;18185531;18673279;19095652;19179970;19254208;19818633;20103720;20180804;20382864;20395631;20510021;20845358;21787330;21787346;22262861;22327069;22455996;22701042;23132494;23302724;23426625;23499554;24043776;24124190;24219363;24256734;25075772;25223608;25461571;25596890;26148048;26375851;26559477;27089320;27145151;29331515;29557506;32357974;3286634;33592498;35051231;36010968;36519134;36709941;37223955;38053993;39191091;9523110;9665269;9756476", "class_list": "", "function": "BPIFA1 is a secreted biomarker of differentiating human airway epithelium. Publication Status: Online-Only, [RefSeq, PubMed]; BPIFA1 protein displays bacteriocidal activity against Gram-negative bacteria. Review article, [RefSeq, PubMed]; CC16 drives VLA-2-dependent SPLUNC1 expression. Publication Status: Online-Only, [RefSeq, PubMed]; ELD607 specifically traffics Orai1 to the lysosome leading to inhibition of store operated calcium entry., [RefSeq, PubMed]; Lipid-binding protein which shows high specificity for the surfactant phospholipid dipalmitoylphosphatidylcholine (DPPC) (PubMed:25223608). Plays a role in the innate immune responses of the upper airways (PubMed:23132494, PubMed:23499554). Reduces the surface tension in secretions from airway epithelia and inhibits the formation of biofilm by pathogenic Gram-negative bacteria, such as P.aeruginosa and K.pneumoniae (PubMed:23132494, PubMed:23499554, PubMed:27145151). Negatively regulates proteolytic cleavage of SCNN1G, an event that is required for activation of the epithelial sodium channel (ENaC), and thereby contributes to airway surface liquid homeostasis and proper clearance of mucus (PubMed:24043776, PubMed:24124190). Plays a role in the airway inflammatory response after exposure to irritants (PubMed:11425234). May attract macrophages and neutrophils (PubMed:23132494)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Lung SPLUNC1 Peptide Derivatives in the Lipid Membrane Headgroup Kill Gram-Negative Planktonic and Biofilm Bacteria. Erratum:[Biomacromolecules. 2024 May 13;25(5):3215. doi: 10.1021/acs.biomac.4c00501. PMID: 38640499], [RefSeq, PubMed]; This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The encoded antimicrobial protein displays antibacterial activity against Gram-negative bacteria. It is thought to be involved in inflammatory responses to irritants in the upper airways and may also serve as a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from alternative splicing in the 3' UTR have been detected, but the full-length nature of only three are known. [provided by RefSeq, Aug 2014]., [RefSeq]; [Correlation between the mRNA levels of BCRP and LUNX genes and pathological types and stages of patients 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A6XMV5;A8K9R3;E1P5M9;Q9NZT0", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0019731 antibacterial humoral response;GO:0043129 surfactant homeostasis;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q9NP55-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZQ8-1", "uniprot_id": [ { "id": "NIBA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZQ8", "type": "external" } ], "mass": 103135.0, "length": 928, "protein_name": "Protein Niban 1", "gene_name": "NIBAN1", "organism": "Human", "refseq_name": "protein Niban 1", "refseq_ac": [ { "id": "NP_443198", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443198", "type": "external" } ], "gene_names_uniprotkb": "NIBAN1; C1orf24; FAM129A; GIG39; NIBAN", "gene_names_refseq": "C1orf24; FAM129A; GIG39; NIBAN1; NIBAN", "protein_names_uniprotkb": "Protein Niban 1; Cell growth-inhibiting gene 39 protein; Protein FAM129A", "protein_names_refseq": "cell growth-inhibiting gene 39 protein; family with sequence similarity 129 member A; protein Niban 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:116496)", "pathway_count": 1, "publication_count": 86, "publication_id_list": "10.1101/2023.09.13.557529;11011112;11237011;11318611;16949643;18669648;18991276;19651622;20058876;20068231;20166139;22424782;22510990;22544926;23481700;24275569;25502872;25576301;25645385;25807930;26154972;26375851;26992070;27452731;27600516;27846572;27862975;28228285;28514659;28832583;28855257;28904123;29242379;29314611;29393594;29493099;29508533;29557506;29786170;30315122;30379171;30429286;30524438;31154438;31217245;31844290;31848261;31937595;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34185709;34211107;34357683;34405274;34433824;34509645;34932366;35051231;35127170;35154160;35251023;35580925;35776020;36010968;36215666;36284347;37083136;37938771;40914422", "class_list": "", "function": "FAM129A promotes self-renewal and maintains invasive status via stabilizing the Notch intracellular domain in glioma stem cells., [RefSeq, PubMed]; MiR-4521 plays a tumor repressive role in growth and metastasis of hepatocarcinoma cells by suppressing phosphorylation of FAK/AKT pathway via targeting FAM129A. Publication Status: Online-Only, [RefSeq, PubMed]; Niban expression is up-regulated in various types of thyroid tumors., [RefSeq, PubMed]; Regulates phosphorylation of a number of proteins involved in translation regulation including EIF2A, EIF4EBP1 and RPS6KB1. May be involved in the endoplasmic reticulum stress response (By similarity)., [UniProtKB]; The negative feedback loop FAM129A/CXCL14 aggravates the progression of esophageal cancer., [RefSeq, PubMed]; This gene encodes a member of the family with sequence similarity 129 protein family. This gene is highly expressed in several cancer cells and may serve as a prognostic marker for certain cancers. The encoded protein may play a role in regulating p53-mediated apoptosis. [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": 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": 28, "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": "Q2TTR2;Q5TEM8;Q8TEI5;Q9H593;Q9H9Y8;Q9HCB9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0001934 positive regulation of protein phosphorylation;GO:0001933 negative regulation of protein phosphorylation;GO:0045727 positive regulation of translation;GO:0034976 response to endoplasmic reticulum stress", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q9BZQ8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60437-1", "uniprot_id": [ { "id": "PEPL_HUMAN", "url": "https://www.uniprot.org/uniprot/O60437", "type": "external" } ], "mass": 204747.0, "length": 1756, "protein_name": "Periplakin", "gene_name": "PPL", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PPL; KIAA0568", "gene_names_refseq": "", "protein_names_uniprotkb": "Periplakin; 190 kDa paraneoplastic pemphigus antigen; 195 kDa cornified envelope precursor protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:5493); (R-HSA-6809371); (R-HSA-8851680)", "pathway_count": 3, "publication_count": 100, "publication_id_list": "10051401;10066784;10196183;10231017;10411887;10588656;10771479;11237011;11350120;11380615;11590230;12244133;12502743;12853457;12902340;15033990;15229321;15302935;15337775;15797384;15803139;16061697;16565220;16639001;16751379;17515931;17562024;17596512;17785817;18843291;19190773;19194479;19531472;19651622;19664995;19691289;20179351;20208008;20657595;20667819;20940292;20944003;21406692;21439340;21654840;21997417;23186163;23629652;24036152;24275569;24703779;25576301;25637025;25657647;25926655;26375851;26390218;27397612;29242379;29331515;29371260;29393594;29557506;29632046;29786170;29789417;30524438;30833945;31154438;31530632;31844290;31848261;32157095;32387766;32488085;32938616;32983136;33537174;33592498;33981976;34087483;34171305;34185709;35051231;35138101;35318648;35494241;35580925;36240223;36241641;36284347;37217939;38665916;7543090;8824274;8999895;9395522;9412476;9521878;9565599", "class_list": "", "function": "Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments. May act as a localization signal in PKB/AKT-mediated signaling., [UniProtKB, PubMed, 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": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "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": "O60314;O60454;Q14C98", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005198 structural molecule activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0031424 keratinization;GO:0009612 response to mechanical stimulus;GO:0042060 wound healing;GO:0045104 intermediate filament cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "O60437-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NI08-1", "uniprot_id": [ { "id": "NCOA7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NI08", "type": "external" } ], "mass": 106162.0, "length": 942, "protein_name": "Nuclear receptor coactivator 7", "gene_name": "NCOA7", "organism": "Human", "refseq_name": "nuclear receptor coactivator 7 isoform 2", "refseq_ac": [ { "id": "NP_001116314", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116314", "type": "external" } ], "gene_names_uniprotkb": "NCOA7; ERAP140; ESNA1; Nbla00052; Nbla10993", "gene_names_refseq": "ERAP140; ESNA1; NCOA7-AS; NCOA7; Nbla00052; Nbla10993; TLDC4; dJ187J11.3", "protein_names_uniprotkb": "Nuclear receptor coactivator 7; 140 kDa estrogen receptor-associated protein; Estrogen nuclear receptor coactivator 1", "protein_names_refseq": "140 kDa estrogen receptor-associated protein; TBC/LysM-associated domain containing 4; estrogen nuclear receptor coactivator 1; estrogen receptor associated protein 140 kDa; nuclear receptor coactivator 7 isoform 2; putative protein product of Nbla00052; putative protein product of Nbla10993", "tax_id": 9606, "disease": "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay (Disease Ontology:DOID:0070339)", "pathway": " (hsa:135112)", "pathway_count": 1, "publication_count": 81, "publication_id_list": "10395741;11237011;11971969;12880961;17081983;17322306;17391516;18452278;18669648;19413330;19415658;19651622;19664994;19690332;20068231;23186163;23481700;24275569;24714562;25330068;25576301;25645385;25880248;25892735;26728094;26992070;27543614;27846572;27920218;28218747;28228285;28510447;28657654;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29769354;29786170;29789417;30429286;30478388;30484775;30779550;30833945;31154438;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33717175;33912179;33968037;34087483;34171305;34185709;34341188;34807954;35051231;35580925;36241641;36284347;36581221;37199504;37511343;37938771;38593795;39243920", "class_list": "", "function": "Crystal structure of the TLDc domain of human NCOA7-AS., [RefSeq, PubMed]; ERAP140 may represent a distinct class of nuclear receptor coactivators. ERAP140 is recruited by estrogen-bound ER alpha to the promoter region of endogenous ER alpha target genes in a cyclic pattern similar to that of other coactivators., [RefSeq, PubMed]; Exhibits oxidation resistance activity (PubMed:25330068). Protects neuronal cells from oxidative stress with stronger neuroprotective activity than isoform 1 (By similarity). Inhibits endosome-mediated viral entry by inhibiting fusion of the viral and endosomal membranes and subsequent nuclear translocation of viral ribonucleoproteins (PubMed:30478388). Promotes increased cytoplasmic vesicular acidification, lysosomal protease activity and the degradation of endocytosed material (PubMed:30478388)., [UniProtKB, UniProtKB, PubMed, PubMed]; May be involved in protection from oxidative damage., [UniProtKB, UniProtKB]; NCOA7 Regulates Growth and Metastasis of Clear Cell Renal Cell Carcinoma via MAPK/ERK Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear receptor coactivator 7 (NCOA7) protects cancer cells from oxidative damage through its ERbd domain., [RefSeq, PubMed]; TMPRSS2 promotes SARS-CoV-2 evasion from NCOA7-mediated restriction. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptional coactivator which enhances the transcriptional activities of several nuclear receptors including ESR1, THRB, PPARG and RARA (PubMed:11971969). Inhibits the activity of the vacuolar-type ATPase (V-ATPase) by inducing disassembly of the V-ATPase complex (PubMed:38593795). Protects the Golgi apparatus lumen from excess acidification by inhibiting V-ATPase ATP hydrolytic activity through interaction with V-ATPase catalytic subunit ATP6V1A, maintaining optimal conditions for glycosylation enzymes (By similarity). Required to stabilize V-ATPase V1 subunits ATP6V1B2 and ATP6V1A at membrane sites (By similarity). Involved in protection against oxidative damage (PubMed:17391516, PubMed:25330068). Involved in urine acidification (By similarity)., [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": 19, "reported_mutagensis": 2, "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": "A0A023IN41;B2RNS2;B7Z2C4;B9EH71;G8JL91;H0Y5F6;Q3LID6;Q4G0V1;Q5TF95;Q6IPQ4;Q6NE83;Q86T89;Q8N1W4", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0016922 nuclear receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006979 response to oxidative stress;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q8NI08-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13485-1", "uniprot_id": [ { "id": "SMAD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13485", "type": "external" } ], "mass": 60439.0, "length": 552, "protein_name": "SMAD family member 4", "gene_name": "SMAD4", "organism": "Human", "refseq_name": "SMAD family member 4 isoform a", "refseq_ac": [ { "id": "NP_005350", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005350", "type": "external" } ], "gene_names_uniprotkb": "SMAD4; DPC4; MADH4", "gene_names_refseq": "DPC4; JIP; MADH4; MYHRS; SMAD4", "protein_names_uniprotkb": "SMAD family member 4; Deletion target in pancreatic carcinoma 4; MAD homolog 4; Mothers against DPP homolog 4; Mothers against decapentaplegic homolog 4; SMAD 4; hSMAD4", "protein_names_refseq": "MAD homolog 4; SMAD family member 4 isoform a; SMAD, mothers against DPP homolog 4; deleted in pancreatic carcinoma locus 4; deletion target in pancreatic carcinoma 4; mothers against decapentaplegic, Drosophila, homolog of, 4", "tax_id": 9606, "disease": "juvenile polyposis syndrome (Disease Ontology:DOID:0050787); colorectal adenoma (Disease Ontology:DOID:0050860); pre-malignant neoplasm (Disease Ontology:DOID:0060071); colorectal carcinoma (Disease Ontology:DOID:0080199); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome (Disease Ontology:DOID:0111543); intestinal cancer (Disease Ontology:DOID:10155); urinary bladder cancer (Disease Ontology:DOID:11054); osteogenesis imperfecta (Disease Ontology:DOID:12347); hereditary hemorrhagic telangiectasia (Disease Ontology:DOID:1270); prostatitis (Disease Ontology:DOID:14654); pancreatic cancer (Disease Ontology:DOID:1793); colon cancer (Disease Ontology:DOID:219); ovarian cancer (Disease Ontology:DOID:2394); transitional cell carcinoma (Disease Ontology:DOID:2671); endometrial carcinoma (Disease Ontology:DOID:2871); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); gastrointestinal system cancer (Disease Ontology:DOID:3119); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); pulmonary fibrosis (Disease Ontology:DOID:3770); Lynch syndrome (Disease Ontology:DOID:3883); cervical cancer (Disease Ontology:DOID:4362); seminoma (Disease Ontology:DOID:4440); renal cell carcinoma (Disease Ontology:DOID:4450); pancreatic carcinoma (Disease Ontology:DOID:4905); intrahepatic cholangiocarcinoma (Disease Ontology:DOID:4928); aortic disease (Disease Ontology:DOID:520); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); chronic myeloid leukemia (Disease Ontology:DOID:8552); prostate carcinoma in situ (Disease Ontology:DOID:8634); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352); Myhre syndrome (MONDO:MONDO:0007688)", "pathway": " (hsa:4089); (R-HSA-1181150); (R-HSA-1502540); (R-HSA-201451); (R-HSA-2173789); (R-HSA-2173795); (R-HSA-2173796); (R-HSA-3311021); (R-HSA-3315487); (R-HSA-452723); (R-HSA-5689880); (R-HSA-8941326); (R-HSA-8941855); (R-HSA-8952158); (R-HSA-9615017); (R-HSA-9617828); (R-HSA-9733709); (R-HSA-9735871); (R-HSA-9754189); (R-HSA-9823730); (R-HSA-9839394); (R-HSA-9844594)", "pathway_count": 22, "publication_count": 410, "publication_id_list": "10022869;10102273;10197981;10199400;10217147;10358014;10444327;10458166;10473623;10480625;10485843;10531062;10531362;10535941;10549282;10587642;10587654;10636916;10647180;10660046;10712517;10822381;10913147;10934479;10982817;11007770;11013220;11016919;11024047;11100470;11117535;11121043;11141505;11158580;11224571;11237011;11274402;11278251;11294908;11389444;11389842;11390472;11424093;11427533;11485994;11509558;11566882;11571290;11714695;11741830;11779503;11779505;11779849;11818334;11884591;11923872;11964479;12063393;12150994;12151385;12239572;12370310;12417513;12446674;12482908;12519765;12592392;12637528;12787505;12801888;12821673;12857866;12917425;12917689;12917691;12941698;1333888;14525983;14630787;14657019;14661020;14671321;14688391;14978253;15031030;15053880;15084259;15087470;15095414;15100235;15108323;15110706;15123686;15150273;15150278;15277698;15342930;15350224;15458387;15485907;15493035;15513931;15531507;15564041;15582778;15625129;15695770;15743839;15799969;15820681;15860457;15881652;15916963;15983365;15988017;16103198;16135801;16140969;16153702;16156666;16214042;16260601;16278212;16319104;16373335;16672363;16738314;16751101;16751102;16777850;16783365;16840535;16901786;16959974;16964248;16978057;16998888;17029022;17068149;17068183;17099224;17204602;17204604;17215250;17267691;17272273;17290220;17306213;17311849;17327236;17356069;17438144;17443180;17506876;17510063;17567999;17572666;17591695;17592128;17628018;17873522;17906079;17947532;17980597;17981138;18029452;18035408;18042803;18055455;18166170;18172164;18212089;18299279;18444242;18467330;18469808;18550259;18568018;18632802;18636086;18729794;18824471;18951876;19015242;19114992;19135894;19151334;19188362;19363159;19398555;19424180;19479054;19489980;19522013;19564924;19585539;19604364;19608861;19688839;19690946;19720988;19755485;19829295;19838211;19874889;19910467;19914168;19917253;19966271;20027182;20096447;20154085;20228808;20353948;20368735;20478047;20501646;20505756;20505821;20595680;20599712;20625381;20659902;20694664;20837710;20953172;20974850;21095583;21239494;21245162;21356369;21362556;21383881;21532621;21536589;21571647;21596315;21630377;21659512;21849505;21855631;21898662;21924763;21962518;22029577;22045334;22085928;22109972;22128162;22158539;22210884;22215994;22216260;22243968;22275377;22327294;22988117;23139211;23159851;23178592;23290524;23395819;23486064;23580232;23824326;23825189;23827706;23827708;23918930;24028821;24040102;24047697;24056413;24260525;24324267;24493797;24896179;25187301;25197364;25218447;25271362;25305019;25310401;25514493;25523272;25578727;25645385;25693565;25755297;25843708;25843800;25892735;25921273;25936800;26015544;26768311;26783251;26878725;26992070;27153775;27308538;27547294;27600516;27705785;27846572;27920218;28115363;28228285;28832583;28834231;28904123;29234012;29242379;29351928;29393594;29493099;29557506;29577978;29632046;29636455;30315122;30429286;30467960;30484775;30524438;30629940;30664791;31154438;31217245;31409900;31530632;31681835;31844290;31936902;31998317;32157095;32161166;32265295;32329246;32357974;32387766;32448362;32488085;32502341;32795420;32897882;32938616;33054971;33141586;33147444;33199824;33214551;33298915;33592498;33912179;33936100;33968037;34019948;34171305;34509645;34932366;35051231;35561310;35580925;36010968;36215666;36241641;36581221;37222488;38665916;39143229;39181074;39302247;40596516;7578059;7644468;7693660;7737999;7791754;8047140;8119126;8196624;8242743;8553070;8622651;8653785;8721982;8774881;8878477;8893010;8947046;8980228;9000051;9032295;9098646;9136927;9214508;9233797;9288972;9311995;9346966;9389648;9417125;9436979;9459292;9670020;9702198;9707553;9811934;9865696", "class_list": "", "function": "In muscle physiology, plays a central role in the balance between atrophy and hypertrophy. When recruited by MSTN, promotes atrophy response via phosphorylated SMAD2/4. MSTN decrease causes SMAD4 release and subsequent recruitment by the BMP pathway to promote hypertrophy via phosphorylated SMAD1/5/8. Acts synergistically with SMAD1 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. Binds to SMAD binding elements (SBEs) (5'-GTCT/AGAC-3') within BMP response element (BMPRE) of cardiac activating regions (By similarity). Common SMAD (co-SMAD) is the coactivator and mediator of signal transduction by TGF-beta (transforming growth factor). Component of the heterotrimeric SMAD2/SMAD3-SMAD4 complex that forms in the nucleus and is required for the TGF-mediated signaling (PubMed:25514493). Promotes binding of the SMAD2/SMAD4/FAST-1 complex to DNA and provides an activation function required for SMAD1 or SMAD2 to stimulate transcription. Component of the multimeric SMAD3/SMAD4/JUN/FOS complex which forms at the AP1 promoter site; required for synergistic transcriptional activity in response to TGF-beta. May act as a tumor suppressor. 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]; This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor (TGF)-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The protein acts as a tumor suppressor and inhibits epithelial cell proliferation. It may also have an inhibitory effect on tumors by reducing angiogenesis and increasing blood vessel hyperpermeability. The encoded protein is a crucial component of the bone morphogenetic protein signaling pathway. The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia 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": 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": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 190, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 35, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A8K405", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;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:0036302 atrioventricular canal development;GO:0071559 response to transforming growth factor beta;GO:0010631 epithelial cell migration;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 42.2, "record_id": "Q13485-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55036-1", "uniprot_id": [ { "id": "PSMD4_HUMAN", "url": "https://www.uniprot.org/uniprot/P55036", "type": "external" } ], "mass": 40737.0, "length": 377, "protein_name": "26S proteasome non-ATPase regulatory subunit 4", "gene_name": "PSMD4", "organism": "Human", "refseq_name": "26S proteasome non-ATPase regulatory subunit 4 isoform 2", "refseq_ac": [ { "id": "NP_002801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002801", "type": "external" } ], "gene_names_uniprotkb": "PSMD4; MCB1", "gene_names_refseq": "AF-1; AF; ASF; MCB1; PSMD4; Rpn10; S5A; pUB-R5", "protein_names_uniprotkb": "26S proteasome non-ATPase regulatory subunit 4; 26S proteasome regulatory subunit RPN10; 26S proteasome regulatory subunit S5A; AF; ASF; Antisecretory factor 1; Multiubiquitin chain-binding protein", "protein_names_refseq": "26S proteasome non-ATPase regulatory subunit 4 isoform 2; 26S proteasome non-ATPase regulatory subunit 4; 26S proteasome regulatory subunit S5A; S5a/antisecretory factor protein; angiocidin; antisecretory factor 1; multiubiquitin chain-binding protein; proteasome (prosome, macropain) 26S subunit, non-ATPase, 4; proteasome 26S subunit, non-ATPase 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:5710); (R-HSA-9907900)", "pathway_count": 2, "publication_count": 118, "publication_id_list": "10921894;10973495;11237011;11585840;12970176;1317798;14585839;14759258;15147878;15280365;15340068;15345747;15826667;15831487;16251969;16990800;17189198;17323924;17525332;17540904;17948026;18077418;18212344;18669648;19490896;19683493;20058876;20068231;20166139;20471946;21406692;22645313;23186163;23481700;24714562;24715725;25576301;25645385;25810538;26154972;26375851;26768311;26992070;27342858;27428775;27846572;27862975;27920218;28063628;28263418;28442575;28510447;28598414;28832583;29242379;29290612;29314611;29393594;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30524438;30833945;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34561969;34932366;35008409;35051231;3524692;35251023;35318648;35561310;35580925;36010968;36241641;36284347;37336868;37938771;38665916;40914422;7657640;8641424;9488668", "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. PSMD4 acts as an ubiquitin receptor subunit through ubiquitin-interacting motifs and selects ubiquitin-conjugates for destruction. Displays a preferred selectivity for longer polyubiquitin chains., [UniProtKB, PubMed, PubMed]; PSMD4 drives progression of hepatocellular carcinoma via Akt/COX2 pathway and p53 inhibition., [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 non-ATPase subunits of the 19S regulator lid. Pseudogenes have been identified on chromosomes 10 and 21. [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": 8, "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": "D3DV16;Q5VWC5;Q9NS92", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003723 RNA binding;GO:0031593 polyubiquitin modification-dependent protein binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0008540 proteasome regulatory particle, base subcomplex;GO:0022624 proteasome accessory complex;GO:0005634 nucleus;GO:0005829 cytosol;GO:0008021 synaptic vesicle", "go_biological_process": "GO:0071357 cellular response to type I interferon;GO:0006979 response to oxidative stress;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0010498 proteasomal protein catabolic process;GO:0061136 regulation of proteasomal protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "P55036-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68DV7-1", "uniprot_id": [ { "id": "RNF43_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68DV7", "type": "external" } ], "mass": 85722.0, "length": 783, "protein_name": "E3 ubiquitin-protein ligase RNF43", "gene_name": "RNF43", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF43 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001292473", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001292473", "type": "external" } ], "gene_names_uniprotkb": "RNF43", "gene_names_refseq": "RNF124; RNF43; SSPCS; URCC", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF43; 2.3.2.27; RING finger protein 43; RING-type E3 ubiquitin transferase RNF43", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF43 isoform 1 precursor; E3 ubiquitin-protein ligase RNF43; RING-type E3 ubiquitin transferase RNF43", "tax_id": 9606, "disease": "villous adenoma (Disease Ontology:DOID:0050869); stomach cancer (Disease Ontology:DOID:10534); endometrial cancer (Disease Ontology:DOID:1380); ascending colon cancer (Disease Ontology:DOID:218); colon cancer (Disease Ontology:DOID:219); high grade glioma (Disease Ontology:DOID:3070); gastric adenocarcinoma (Disease Ontology:DOID:3717); lung adenocarcinoma (Disease Ontology:DOID:3910); intrahepatic cholangiocarcinoma (Disease Ontology:DOID:4928); cholangiocarcinoma (Disease Ontology:DOID:4947); stomach carcinoma (Disease Ontology:DOID:5517); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256); irritable bowel syndrome (Disease Ontology:DOID:9778); sessile serrated polyposis cancer syndrome (MONDO:MONDO:0014919)", "pathway": " (hsa:54894); (R-HSA-4641263); (R-HSA-5340588)", "pathway_count": 3, "publication_count": 41, "publication_id_list": "11237011;15492824;15623641;16109882;16357527;17086209;17320548;17400545;17804805;18313049;18655028;20495530;21693646;21727895;21909076;22575959;22895187;23756651;23847203;24512911;24612787;27081527;27518460;28228285;28266765;29769720;30315122;31154438;32157095;32350084;32357974;33141586;33912179;33981976;34357683;35051231;36241641;38063999;38225722;38969364;39125653", "class_list": "", "function": "E3 ligases RNF43 and ZNRF3 display differential specificity for endocytosis of Frizzled receptors. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination, endocytosis and subsequent degradation of Wnt receptor complex components Frizzled. Acts on both canonical and non-canonical Wnt signaling pathway (PubMed:18313049, PubMed:22575959, PubMed:22895187). Along with RSPO2 and ZNRF3, constitutes a master switch that governs limb specification (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family., [RefSeq, PubMed]; New Target(s) for RNF43 Regulation: Implications for Therapeutic Strategies. Review article Publication Status: Online-Only, [RefSeq, PubMed]; RNF43 Inactivation Enhances the B-RAF/MEK Signaling and Creates a Combinatory Therapeutic Target in Cancer Cells., [RefSeq, PubMed]; RNF43 and ZNRF3 reduce Wnt signals by selectively ubiquitinating frizzled receptors, thereby targeting these Wnt receptors for degradation, [RefSeq, PubMed]; RNF43 may exert its growth promoting effect in an antocrine manner and may be a novel diagnostic marker for colorectal cancer, [RefSeq, PubMed]; The protein encoded by this gene is a RING-type E3 ubiquitin ligase and is predicted to contain a transmembrane domain, a protease-associated domain, an ectodomain, and a cytoplasmic RING domain. This protein is thought to negatively regulate Wnt signaling, and expression of this gene results in an increase in ubiquitination of frizzled receptors, an alteration in their subcellular distribution, resulting in reduced surface levels of these receptors. Mutations in this gene have been reported in multiple tumor cells, including colorectal and endometrial cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]., [RefSeq]; These results infer that RNF43 is a resident protein of the ER and, at least partially, the nuclear membrane, with ubiquitin ligase activity and may be involved in cell growth control potentially through the interaction with HAP95., [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": 4, "reported_glycation": 0, "reported_snv": 94, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 15, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K4R2;B7Z443;B7Z5D5;B7Z5J5;Q65ZA4;Q6AI04;Q9NXD0", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" } ], "go_molecular_function": "GO:0005109 frizzled binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0016055 Wnt signaling pathway;GO:0016567 protein ubiquitination;GO:0030178 negative regulation of Wnt signaling pathway;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0072089 stem cell proliferation", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q68DV7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5X1-1", "uniprot_id": [ { "id": "SNX9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5X1", "type": "external" } ], "mass": 66592.0, "length": 595, "protein_name": "Sorting nexin-9", "gene_name": "SNX9", "organism": "Human", "refseq_name": "sorting nexin-9", "refseq_ac": [ { "id": "NP_057308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057308", "type": "external" } ], "gene_names_uniprotkb": "SNX9; SH3PX1; SH3PXD3A", "gene_names_refseq": "SDP1; SH3PX1; SH3PXD3A; SNX9; WISP", "protein_names_uniprotkb": "Sorting nexin-9; Protein SDP1; SH3 and PX domain-containing protein 1; SH3 and PX domain-containing protein 3A", "protein_names_refseq": "SH3 and PX domain-containing protein 1; SH3 and PX domain-containing protein 3A; Wiskott-Aldrich syndrome protein (WASP) interactor protein; sorting nexin-9", "tax_id": 9606, "disease": "colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:51429); (R-HSA-432722); (R-HSA-8856828)", "pathway_count": 3, "publication_count": 198, "publication_id_list": "10394364;10531379;10535736;10542231;10559856;10559861;10559924;10625686;10766823;11082044;11231140;11237011;11239472;11470803;11485546;11516654;11517213;11532990;11577110;11590181;11604418;11694590;11773052;11799118;11877457;11877461;11879186;11889126;11994746;12057195;12213833;12447393;12847086;12952949;14555962;14581451;14617351;14622578;14622579;15102850;15252009;15260957;15318165;15339664;15502812;15502813;15649145;15703209;15802264;15895077;15916959;16103228;16137687;16155256;16215232;16316319;16326391;16410077;16516836;16707488;16798879;16880396;16903783;17016520;17018281;17035995;17116749;17158794;17389395;17494869;17512409;17540576;17609109;17681954;17762867;17765681;17948057;17978091;18093523;18388313;1847920;18707149;18790740;18940612;18981233;19092055;19287005;19296720;19458185;19536138;19575674;19603039;19608861;19696796;19713939;19776351;19807924;19809571;20033059;20059951;20129922;20211604;20231386;20427313;20428113;20448150;20491914;20826345;20946875;21048941;2115402;21187331;21278753;21316588;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;22099461;22233676;22484487;22505844;22718350;22815487;22863004;23186163;23297414;23536704;23823722;23861397;23891661;24130457;24186068;24581490;24715725;24789820;24966051;25107275;25303366;25341920;26042225;26403691;26992070;27600516;27862975;28467828;29393594;29493099;29557506;29632711;29786170;30397120;30429286;31154438;31844290;31848261;32157095;32350084;32387766;32488085;32502341;32938616;32983136;33392160;33592498;33717175;33968037;34019948;34229054;34433824;35050850;35051231;35580925;36010968;36284347;36581221;36732507;37217939;37938771;39302247;6146630;7877694;8374173;8524399;8552632;8670264;9092476;9100026;9427626;9428629;9635431;9736607", "class_list": "", "function": "Deletion of SNX9 alleviates CD8 T cell exhaustion for effective cellular cancer immunotherapy. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in endocytosis and intracellular vesicle trafficking, both during interphase and at the end of mitosis. Required for efficient progress through mitosis and cytokinesis. Required for normal formation of the cleavage furrow at the end of mitosis. Plays a role in endocytosis via clathrin-coated pits, but also clathrin-independent, actin-dependent fluid-phase endocytosis. Plays a role in macropinocytosis. Promotes internalization of TNFR. Promotes degradation of EGFR after EGF signaling. Stimulates the GTPase activity of DNM1. Promotes DNM1 oligomerization. Promotes activation of the Arp2/3 complex by WASL, and thereby plays a role in the reorganization of the F-actin cytoskeleton. Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate and promotes membrane tubulation. Has lower affinity for membranes enriched in phosphatidylinositol 3-phosphate., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; SNX9 may be recruited together with dynamin-2 and become co-assembled with AP-2 and clathrin at the plasma membrane, [RefSeq, PubMed]; SNX9 may function to assist AP-2 in its role at the plasma membrane., [RefSeq, PubMed]; SNX9-induced membrane tubulation regulates CD28 cluster stability and signalling. Publication Status: Online-Only, [RefSeq, PubMed]; The Cdc42 target ACK2 interacts with sorting nexin 9 (SH3PX1) to regulate epidermal growth factor receptor degradation, [RefSeq, PubMed]; This gene encodes a member of the sorting nexin family. Members of this family contain a phosphoinositide binding domain, and are involved in intracellular trafficking. The encoded protein does not contain a coiled coil region, like some family members, but does contain a SRC homology domain near its N-terminus. The encoded protein is reported to have a variety of interaction partners, including of adaptor protein 2 , dynamin, tyrosine kinase non-receptor 2, Wiskott-Aldrich syndrome-like, and ARP3 actin-related protein 3. The encoded protein is implicated in several stages of intracellular trafficking, including endocytosis, macropinocytosis, and F-actin nucleation. [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": 9, "reported_mutagensis": 6, "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": "Q9BSI7;Q9BVM1;Q9UJH6;Q9UP20", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0031625 ubiquitin protein ligase binding;GO:0045296 cadherin binding;GO:0005545 1-phosphatidylinositol binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006897 endocytosis;GO:0043547 positive regulation of GTPase activity;GO:0051044 positive regulation of membrane protein ectodomain proteolysis;GO:0045860 positive regulation of protein kinase activity", "synthesized_glycan_count": 0, "hit_score": 20.1, "record_id": "Q9Y5X1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TCZ1-1", "uniprot_id": [ { "id": "SPD2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TCZ1", "type": "external" } ], "mass": 125289.0, "length": 1133, "protein_name": "SH3 and PX domain-containing protein 2A", "gene_name": "SH3PXD2A", "organism": "Human", "refseq_name": "SH3 and PX domain-containing protein 2A isoform 1", "refseq_ac": [ { "id": "NP_055446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055446", "type": "external" } ], "gene_names_uniprotkb": "SH3PXD2A; FISH; KIAA0418; SH3MD1; TKS5", "gene_names_refseq": "FISH; SH3MD1; SH3PXD2A; TKS5", "protein_names_uniprotkb": "SH3 and PX domain-containing protein 2A; Adapter protein TKS5; Five SH3 domain-containing protein; SH3 multiple domains protein 1; Tyrosine kinase substrate with five SH3 domains", "protein_names_refseq": "SH3 and PX domain-containing protein 2A isoform 1; SH3 and PX domain-containing protein 2A; SH3 multiple domains 1; adapter protein TKS5; adaptor protein TKS5; five SH3 domain-containing protein; tyrosine kinase substrate with five SH3 domains", "tax_id": 9606, "disease": "", "pathway": " (hsa:9644); (R-HSA-8941237); (R-HSA-9013148)", "pathway_count": 3, "publication_count": 255, "publication_id_list": "10.1101/2023.09.13.557529;10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10873802;11007481;11058585;11085924;11149925;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11756552;11773441;11804587;11804589;11804590;11884391;11912491;11948177;12071859;12093360;12096337;12172552;12195014;12221096;12351724;12432077;12464619;12531887;12547822;12615925;12650940;12773384;12857875;12860998;12877655;12907671;14506234;14512443;15023524;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15342493;15485661;15601624;15611138;15710328;15710903;15728722;15850391;15897194;16112081;16116428;16184169;16217026;16519628;16630611;16714282;16777452;16777849;16862148;16896804;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17525332;17599059;17702745;17765681;17804252;17932950;17976533;18045877;18056264;18218625;18363964;18417249;18426980;18653540;18669648;18786931;18835169;18838382;18929667;19605563;19755710;19807924;19934221;20068231;20609497;20679435;21148482;21454492;21542010;21565175;21613211;21685891;21865595;21989057;22004470;22096251;22298643;22461490;22571869;22608513;22970203;23186163;23200924;23255595;23406282;23434736;23572525;23718289;24086303;24259668;24275569;24335996;24352656;24584464;24933155;24996924;25024229;25211221;25418920;25576301;25704760;25721503;25795300;25862245;25880248;25963737;26129894;26299518;26529257;26598554;26887924;26929215;26992070;27096001;27145964;27216196;27452731;27481945;27555588;27789576;27798618;27846572;27869121;27920218;28028151;28196833;28467828;28825699;28832583;28860633;28904123;29237092;29242379;29393594;29557506;29632046;29789417;30061681;30429286;30484775;30853411;31844290;31848261;31871319;32157095;32203420;32350084;32357974;32387766;32897882;32938616;32983136;33141586;33592498;33717175;33912179;33968037;33994260;34171305;34255789;34357683;34769479;34932366;35051231;35154160;35580925;36215666;36241641;36284347;37515639;37938771;38353696;7479768;7512369;7673236;7721814;7753201;8021274;8537347;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8994827;9013646;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9659915;9670022;9829970;9843499;9846874", "class_list": "", "function": "A MAP1B-cortactin-Tks5 axis regulates TNBC invasion and tumorigenesis., [RefSeq, PubMed]; Adapter protein involved in invadopodia and podosome formation, extracellular matrix degradation and invasiveness of some cancer cells (PubMed:27789576). Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. In association with ADAM12, mediates the neurotoxic effect of amyloid-beta peptide., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; STAT3/SH3PXD2A-AS1/miR-125b/STAT3 positive feedback loop affects psoriasis pathogenesis via regulating human keratinocyte proliferation., [RefSeq, PubMed]; Spontaneous malignant transformation of trigeminal schwannoma: consideration of responsible gene alterations for tumorigenesis-a case report., [RefSeq, PubMed]; The clinicopathologic significance of Tks5 expression of peritoneal mesothelial cells in gastric cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; Tks5 Regulates Synaptic Podosome Formation and Stabilization of the Postsynaptic Machinery at the Neuromuscular Junction. Publication Status: Online-Only, [RefSeq, PubMed]; Tks5/Fish appears to be required for podosome formation, for degradation of the extracellular matrix, and for invasion of some cancer 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": 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": 17, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "D3DR98;O43302;Q5TCZ2;Q5TDQ8", "ec_number_list": [], "go_molecular_function": "GO:0010314 phosphatidylinositol-5-phosphate binding;GO:0002020 protease binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0043325 phosphatidylinositol-3,4-bisphosphate binding;GO:0070273 phosphatidylinositol-4-phosphate binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0002102 podosome", "go_biological_process": "GO:0072675 osteoclast fusion;GO:0006801 superoxide metabolic process;GO:0042554 superoxide anion generation;GO:0072593 reactive oxygen species metabolic process", "synthesized_glycan_count": 0, "hit_score": 26.6, "record_id": "Q5TCZ1-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WV41-1", "uniprot_id": [ { "id": "SNX33_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WV41", "type": "external" } ], "mass": 65265.0, "length": 574, "protein_name": "Sorting nexin-33", "gene_name": "SNX33", "organism": "Human", "refseq_name": "sorting nexin-33 isoform 2", "refseq_ac": [ { "id": "NP_001305075", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305075", "type": "external" } ], "gene_names_uniprotkb": "SNX33; SH3PX3; SH3PXD3C; SNX30", "gene_names_refseq": "SH3PX3; SH3PXD3C; SNX30; SNX33", "protein_names_uniprotkb": "Sorting nexin-33; SH3 and PX domain-containing protein 3", "protein_names_refseq": "SH3 and PX domain containing 3; SH3 and PX domain-containing protein 3; sorting nexin-33 isoform 2", "tax_id": 9606, "disease": "colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:257364)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;15302935;16374509;18353773;18419754;18669648;19487689;19718658;19807924;20964629;21048941;22718350;23186163;24715725;29393594;29557506;29786170;30429286;32157095;32387766;32938616;32983136;33592498;33968037;34078793;34171305;34509645;35051231", "class_list": "", "function": "Identifies SNX33 as a new endocytic protein, which modulates amyloid precursor protein endocytosis and APP alpha-secretase cleavage, and demonstrates that the rate of APP endocytosis is a major control factor for APP alpha-secretase cleavage, [RefSeq, PubMed]; Plays a role in the reorganization of the cytoskeleton, endocytosis and cellular vesicle trafficking via its interactions with membranes, WASL, DNM1 and DNM2. Acts both during interphase and at the end of mitotic cell divisions. Required for efficient progress through mitosis and cytokinesis. Required for normal formation of the cleavage furrow at the end of mitosis. Modulates endocytosis of cell-surface proteins, such as APP and PRNP; this then modulates the secretion of APP and PRNP peptides. Promotes membrane tubulation (in vitro). May promote the formation of macropinosomes., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SNX33 interferes with cellular PrP formation by modulation of PrP shedding, [RefSeq, PubMed]; SNX33 plays a role in maintaining cell shape and cell cycle progression through its interaction with WASp, [RefSeq, PubMed]; The protein encoded by this gene is involved in cytoskeletal reorganization, vesicle trafficking, endocytosis, and mitosis. The encoded protein is essential for the creation of the cleavage furrow during mitosis and for completion of mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]., [RefSeq]; [Donepezil Reduces Amyloid Precursor Protein Endocytosis by Resulting from Increase in the Expression of Sorting Nexin Protein 33]. 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": 3, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1NM17", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030659 cytoplasmic vesicle membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0045806 negative regulation of endocytosis;GO:0006886 intracellular protein transport;GO:0006897 endocytosis;GO:0051044 positive regulation of membrane protein ectodomain proteolysis;GO:2000010 positive regulation of protein localization to cell surface", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q8WV41-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95999-1", "uniprot_id": [ { "id": "BCL10_HUMAN", "url": "https://www.uniprot.org/uniprot/O95999", "type": "external" } ], "mass": 26252.0, "length": 233, "protein_name": "B-cell lymphoma/leukemia 10", "gene_name": "BCL10", "organism": "Human", "refseq_name": "B-cell lymphoma/leukemia 10 isoform 1", "refseq_ac": [ { "id": "NP_003912", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003912", "type": "external" } ], "gene_names_uniprotkb": "BCL10; CIPER; CLAP", "gene_names_refseq": "BCL10; CARMEN; CIPER; CLAP; IMD37; c-E10; mE10", "protein_names_uniprotkb": "B-cell lymphoma/leukemia 10; B-cell CLL/lymphoma 10; Bcl-10; CARD-containing molecule enhancing NF-kappa-B; CARD-like apoptotic protein; CED-3/ICH-1 prodomain homologous E10-like regulator; CIPER; Cellular homolog of vCARMEN; Cellular-E10; Mammalian CARD-containing adapter molecule E10; c-E10; cCARMEN; hCLAP; mE10", "protein_names_refseq": "B cell CLL/lymphoma 10; B-cell lymphoma/leukemia 10 isoform 1; B-cell lymphoma/leukemia 10; CARD containing molecule enhancing NF-kB; CARD-containing apoptotic signaling protein; CARD-containing molecule enhancing NF-kappa-B; CARD-containing proapoptotic protein; CED-3/ICH-1 prodomain homologous E10-like regulator; cCARMEN; caspase-recruiting domain-containing protein; cellular homolog of vCARMEN; cellular-E10; hCLAP; mammalian CARD-containing adapter molecule E10", "tax_id": 9606, "disease": "extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (Disease Ontology:DOID:0050909); non-Hodgkin lymphoma (Disease Ontology:DOID:0060060); immunodeficiency 37 (Disease Ontology:DOID:0111939); malignant mesothelioma (Disease Ontology:DOID:1790)", "pathway": " (hsa:8915); (R-HSA-1169091); (R-HSA-202424); (R-HSA-2871837); (R-HSA-5607764); (R-HSA-8866654)", "pathway_count": 6, "publication_count": 199, "publication_id_list": "10066435;10187770;10187771;10187815;10230406;10319863;10321728;10364242;10380921;10400625;10514424;10562279;10582682;10593898;10698680;10702308;10716940;10779524;10838074;10882101;11053425;11057907;11090634;11237011;11262391;11325957;11358993;11460167;11466612;11606584;11740563;11772397;11884229;12070292;12118249;12473183;12473184;12660731;14514672;14695475;15105418;15122200;15125833;15145317;15215855;15215856;15327770;15371334;15541657;15845454;16056267;16186825;16252004;16280327;16301747;16307923;16341139;16356853;16356855;16356856;16612002;16831874;16868077;16978534;17047224;17052756;17072321;17108083;17130289;17135271;17158449;17213322;17287217;17363905;17371994;17428801;17468049;17496917;17502353;17548359;1756723;17726030;17728323;17948050;18264101;18287044;18316726;18359941;18462924;18719106;18772140;19066035;19208625;19359218;19410543;19651622;19723507;19909372;19934406;20038579;20166139;20193029;20300203;20449947;20466000;20538596;20685844;21203937;21329877;21396873;21406692;21525931;21554508;21674474;21700900;21966355;22021426;22069318;22265677;22798961;23301498;24074955;24662292;24732096;24807418;24979766;25030448;25170678;25365219;25936802;26038114;26086376;26210183;26216882;26344566;26350214;26488816;26711259;27113748;27569044;27597759;27777308;27798111;27846572;28628108;28832583;28904123;29242379;29557506;30315122;30379171;30429286;3129195;31296852;31844290;32157095;32350084;32983136;33298915;33592498;33912179;33968037;33981976;34357683;34561969;34932366;35727133;35750252;36010968;36537036;37991197;7479848;7479976;7499357;7575604;7612269;7628694;7809113;7831327;7862124;7957109;8387275;8550590;8601309;8625414;8670417;8972730;8991089;9135156;9252186;9315679;9362451;9687533;9721103;9859996;9914500;9989495;9990852;9990853", "class_list": "", "function": "A nucleation barrier spring-loads the CBM signalosome for binary activation. Publication Status: Online-Only, [RefSeq, PubMed]; A transposable element into the human long noncoding RNA CARMEN is a switch for cardiac precursor cell specification., [RefSeq, PubMed]; BCL10 loss-of-function novel mutation leading to atypical severe combined immunodeficiency., [RefSeq, PubMed]; Plays a key role in both adaptive and innate immune signaling by bridging CARD domain-containing proteins to immune activation (PubMed:10187770, PubMed:10364242, PubMed:10400625, PubMed:24074955, PubMed:25365219). Acts by channeling adaptive and innate immune signaling downstream of CARD domain-containing proteins CARD9, CARD11 and CARD14 to activate 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:24074955). Recruited by activated CARD domain-containing proteins: homooligomerized CARD domain-containing proteins form a nucleating helical template that recruits BCL10 via CARD-CARD interaction, thereby promoting polymerization of BCL10, subsequent recruitment of MALT1 and formation of a CBM complex (PubMed:24074955). 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:18287044, PubMed:24074955, PubMed:27777308). Activated by CARD9 downstream of C-type lectin receptors; CARD9-mediated signals are essential for antifungal immunity (PubMed:26488816). Activated by CARD11 downstream of T-cell receptor (TCR) and B-cell receptor (BCR) (PubMed:18264101, PubMed:18287044, PubMed:24074955, PubMed:27777308). Promotes apoptosis, pro-caspase-9 maturation and activation of NF-kappa-B via NIK and IKK (PubMed:10187815)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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]; This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. 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": 8, "reported_mutagensis": 20, "reported_glycation": 0, "reported_snv": 9, "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": "Q5VUF1", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0003713 transcription coactivator activity;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0045121 membrane raft;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0045087 innate immune response;GO:0051260 protein homooligomerization;GO:0032094 response to food;GO:0032755 positive regulation of interleukin-6 production", "synthesized_glycan_count": 0, "hit_score": 20.2, "record_id": "O95999-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60884-1", "uniprot_id": [ { "id": "DNJA2_HUMAN", "url": "https://www.uniprot.org/uniprot/O60884", "type": "external" } ], "mass": 45746.0, "length": 412, "protein_name": "DnaJ homolog subfamily A member 2", "gene_name": "DNAJA2", "organism": "Human", "refseq_name": "dnaJ homolog subfamily A member 2", "refseq_ac": [ { "id": "NP_005871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005871", "type": "external" } ], "gene_names_uniprotkb": "DNAJA2; CPR3; HIRIP4", "gene_names_refseq": "CPR3; DJ3; DJA2; DNAJA2; DNAJ; DNJ3; HIRIP4; PRO3015; RDJ2", "protein_names_uniprotkb": "DnaJ homolog subfamily A member 2; Cell cycle progression restoration gene 3 protein; Dj3; Dnj3; HIRA-interacting protein 4; Renal carcinoma antigen NY-REN-14", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily A, member 2; HIRA interacting protein 4; cell cycle progression 3 protein; cell cycle progression restoration gene 3 protein; dnaJ homolog subfamily A member 2; renal carcinoma antigen NY-REN-14", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); liver disease (Disease Ontology:DOID:409)", "pathway": " (hsa:10294); (R-HSA-3371497); (R-HSA-9918487)", "pathway_count": 3, "publication_count": 160, "publication_id_list": "10508479;10747884;10816573;11237011;11589254;11701661;11751894;12781197;13486053;1493716;15159550;15308774;15381148;15591061;16403413;17081983;17591767;17804755;18215318;18243712;18254226;18491316;18635947;18691976;19359544;19413330;19690332;20006655;20038533;20068231;20072699;20305658;21158691;21183720;21376746;21700222;21740066;21796517;22011577;22266222;22318716;22433123;22791416;23481700;24012426;24275569;24318877;24694367;24714562;25576301;25645385;25892735;26073023;26154972;26203193;26313416;26375851;26728094;26735137;26758079;26992070;27462449;27663436;27862975;28083797;28228285;28301631;28649982;28755533;28832583;28834231;28904123;28919297;29117567;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29632711;29786170;29789417;30197098;30315122;30429286;30524438;30833945;31092671;31110491;31141847;31154438;31217245;31222486;31530632;31731497;31826031;31844290;31848261;32016915;32157095;32161166;32320027;32350084;32357974;32387766;32448030;32502341;32544881;32890404;32897882;32938616;32982970;32983136;33214551;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34357683;34696522;34725712;34932366;35051231;35138101;35154160;35251023;35318648;35561310;35580925;35585045;36010968;36215666;36284347;37217939;37640708;37670029;37938771;38177122;38665916;39012012;39117455;40914422;6645495;6891012;8157723;8282004;8560673;9383053;9464360;9464361;9667968", "class_list": "", "function": "Co-chaperone of Hsc70. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro) (PubMed:24318877)., [UniProtKB, PubMed]; DNAJA2 and Hero11 mediate similar conformational extension and aggregation suppression of TDP-43. Publication Status: Online-Only, [RefSeq, PubMed]; DNAJA2 deficiency activates cGAS-STING pathway via the induction of aberrant mitosis and chromosome instability. Publication Status: Online-Only, [RefSeq, PubMed]; Pseudophosphorylation of single residues of the J-domain of DNAJA2 regulates the holding/folding balance of the Hsc70 system., [RefSeq, PubMed]; The protein encoded by this gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain. The product of this gene works as a cochaperone of Hsp70s in protein folding and mitochondrial protein import in vitro. [provided by RefSeq, Jul 2008]., [RefSeq]; The self-association equilibrium of DNAJA2 regulates its interaction with unfolded substrate proteins and with Hsc70. Erratum:[Nat Commun. 2024 Jan 2;15(1):99. doi: 10.1038/s41467-023-44499-y. PMID: 38167402] 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": 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": "B2R7L7;O14711", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0051082 unfolded protein binding;GO:0051087 protein-folding chaperone binding;GO:0001671 ATPase activator activity", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0034605 cellular response to heat;GO:0042026 protein refolding;GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "O60884-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43309-1", "uniprot_id": [ { "id": "ZSC12_HUMAN", "url": "https://www.uniprot.org/uniprot/O43309", "type": "external" } ], "mass": 70960.0, "length": 611, "protein_name": "Zinc finger and SCAN domain-containing protein 12", "gene_name": "ZSCAN12", "organism": "Human", "refseq_name": "zinc finger and SCAN domain-containing protein 12", "refseq_ac": [ { "id": "NP_001156863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156863", "type": "external" } ], "gene_names_uniprotkb": "ZSCAN12; KIAA0426; ZNF305; ZNF96", "gene_names_refseq": "ZFP96; ZNF29K1; ZNF305; ZNF96; ZSCAN12; dJ29K1.2", "protein_names_uniprotkb": "Zinc finger and SCAN domain-containing protein 12; Zinc finger protein 305; Zinc finger protein 96", "protein_names_refseq": "zinc finger and SCAN domain-containing protein 12; zinc finger protein 305; zinc finger protein 96", "tax_id": 9606, "disease": "", "pathway": " (hsa:9753)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10.1101/2023.09.13.557529;11237011;28832583;29242379;29632046;35039565;35705054", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; Methylation statuses of NCOR2, PARK2, and ZSCAN12 signify densities of tumor-infiltrating lymphocytes in gastric 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": 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": 9, "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": "A0A024RCI2;A8K187;O43724", "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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "O43309-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0D2-3", "uniprot_id": [ { "id": "ZN541_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0D2", "type": "external" } ], "mass": 145587.0, "length": 1346, "protein_name": "Zinc finger protein 541", "gene_name": "ZNF541", "organism": "Human", "refseq_name": "zinc finger protein 541", "refseq_ac": [ { "id": "NP_001264004", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264004", "type": "external" } ], "gene_names_uniprotkb": "ZNF541", "gene_names_refseq": "ZNF541", "protein_names_uniprotkb": "Zinc finger protein 541", "protein_names_refseq": "zinc finger protein 541", "tax_id": 9606, "disease": "", "pathway": " (hsa:84215)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11230166;16959974;21573134;29557506;31611695;32387766;35051231;37217939", "class_list": "", "function": "Transcription regulator which is essential for male fertility and for the completion of meiotic prophase in spermatocytes. Regulates progression of the pachytene stage of meiotic prophase by activating the expression of genes involved in meiosis during spermatogenesis. Maintains the repression of pre-pachytene transcriptional programs, including meiotic double-strand breaks (DSB) formation genes in pachytene spermatocytes and suppresses aberrant DSB formation after mid-pachytene, thus ensuring meiosis progression., [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": 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": "Q8NDK8", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005667 transcription regulator complex;GO:0000118 histone deacetylase complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9H0D2-3", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60294-1", "uniprot_id": [ { "id": "TYW4_HUMAN", "url": "https://www.uniprot.org/uniprot/O60294", "type": "external" } ], "mass": 75602.0, "length": 686, "protein_name": "tRNA wybutosine-synthesizing protein 4", "gene_name": "LCMT2", "organism": "Human", "refseq_name": "tRNA wybutosine-synthesizing protein 4", "refseq_ac": [ { "id": "NP_055608", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055608", "type": "external" } ], "gene_names_uniprotkb": "LCMT2; KIAA0547; TYW4", "gene_names_refseq": "LCMT2; PPM2; TYW4", "protein_names_uniprotkb": "tRNA wybutosine-synthesizing protein 4; 2.1.1.290; 2.3.1.231; Leucine carboxyl methyltransferase 2; tRNA yW-synthesizing protein 4; tRNA(Phe) (7-(3-amino-3-(methoxycarbonyl)propyl)wyosine(37)-N)-methoxycarbonyltransferase; tRNA(Phe) (7-(3-amino-3-carboxypropyl)wyosine(37)-O)-methyltransferase", "protein_names_refseq": "p21WAF1/CIP1 promoter-interacting protein; tRNA wybutosine-synthesizing protein 4; tRNA(Phe) (7-(3-amino-3-(methoxycarbonyl)propyl)wyosine(37)-N)- methoxycarbonyltransferase; tRNA(Phe) (7-(3-amino-3-carboxypropyl)wyosine(37)-O)- methyltransferase; tRNA-Wybutosine-synthesizing protein 4; tRNA-yW synthesizing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:9836); (R-HSA-6782861)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "11237011;12853982;15248782;19287006;20739293;20972222;22253232;22761755;23481700;23887145;24714562;24715725;25418920;25645385;26728094;26758079;26811146;26992070;27600516;28228285;28514659;28832583;28904123;29242379;29393594;29557506;29786170;30315122;30379171;30429286;30484775;30524438;30779550;30833945;31217245;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34509645;34561969;35051231;35580925;36010968;36215666;36241641;37938771;39523586", "class_list": "", "function": "Kr-pok interacted directly with the DNA binding and oligomerization domains of p53. This interaction was essential for Kr-pok to bind the distal promoter region of the CDKN1A gene, p21WAF1, and to inhibit p53-mediated transcriptional activation of CDKN1A., [RefSeq, PubMed]; S-adenosyl-L-methionine-dependent methyltransferase that acts as a component of the wybutosine biosynthesis pathway (Probable). Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA (Probable)., [UniProtKB, PubMed]; The protein encoded by this intronless gene belongs to the highly variable methyltransferase superfamily. This gene is the inferred homolog of the Saccharomyces cerevisiae carboxymethyltransferase gene PPM2 that is essential for the synthesis of the hypermodified guanosine Wybutosine (yW). [provided by RefSeq, Jul 2008]., [RefSeq]; This paper reports crystal structures of a yeast homolog, TYW4., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4JFT6;Q96B55;Q9NR10", "ec_number_list": [ { "id": "2.1.1.290", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.290", "type": "external" }, { "id": "2.3.1.231", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.231", "type": "external" } ], "go_molecular_function": "GO:0008175 tRNA methyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006400 tRNA modification;GO:0030488 tRNA methylation;GO:0031591 wybutosine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "O60294-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14129-1", "uniprot_id": [ { "id": "DGCR6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14129", "type": "external" } ], "mass": 24989.0, "length": 220, "protein_name": "Protein DGCR6", "gene_name": "DGCR6", "organism": "Human", "refseq_name": "protein DGCR6", "refseq_ac": [ { "id": "NP_005666", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005666", "type": "external" } ], "gene_names_uniprotkb": "DGCR6", "gene_names_refseq": "DGCR6", "protein_names_uniprotkb": "Protein DGCR6; DiGeorge syndrome critical region 6", "protein_names_refseq": "DiGeorge syndrome critical region protein 6; protein DGCR6", "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:8214)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11157784;11237011;11891283;11959925;15821931;18477386;20398908;22832905;24722188;26978485;27600516;29485866;29557506;30429286;31844290;32488085;32502341;33141586;36215666;8733130", "class_list": "", "function": "A compelling genetic hypothesis for a complex disease: PRODH2/DGCR6 variation leads to schizophrenia susceptibility., [RefSeq, PubMed]; DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008]., [RefSeq]; Further studies are now needed to test the usefulness of DGCR6 and DGCR6L expression and alterations in the epigenome at these loci in predicting childhood anxiety and associated adult-onset pathologies in 22q11DS subjects. Erratum:[Transl Psychiatry. 2012;2:e124. Chakraborty, D [corrected to Das Chakraborty, R]] Publication Status: Online-Only, [RefSeq, PubMed]; Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia, [RefSeq, PubMed]; May play a role in neural crest cell migration into the third and fourth pharyngeal pouches., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The frequency of a recurrent small 22q11.2 deletion encompassing PRODH and the neighboring DGCR6 gene in three case-control studies, was studied., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 13, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RCH5;D3DX15;G5E9J8;Q9BY28", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0031012 extracellular matrix", "go_biological_process": "GO:0007155 cell adhesion;GO:0009887 animal organ morphogenesis", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q14129-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15265-1", "uniprot_id": [ { "id": "ATX7_HUMAN", "url": "https://www.uniprot.org/uniprot/O15265", "type": "external" } ], "mass": 95451.0, "length": 892, "protein_name": "Ataxin-7", "gene_name": "ATXN7", "organism": "Human", "refseq_name": "ataxin-7 isoform a", "refseq_ac": [ { "id": "NP_000324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000324", "type": "external" } ], "gene_names_uniprotkb": "ATXN7; SCA7", "gene_names_refseq": "ADCAII; ATXN7; OPCA3; SCA7; SGF73", "protein_names_uniprotkb": "Ataxin-7; Spinocerebellar ataxia type 7 protein", "protein_names_refseq": "Autosomal dominant cerebellar ataxia with retinal degeneration; SAGA associated factor 73 kDa homolog; ataxin-7 isoform a; spinocerebellar ataxia type 7 protein", "tax_id": 9606, "disease": "spinocerebellar ataxia 7 (Disease Ontology:DOID:0050958); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094)", "pathway": " (hsa:6314); (R-HSA-3214847); (R-HSA-5689880)", "pathway_count": 3, "publication_count": 121, "publication_id_list": "10441328;10444327;10786633;10821277;10982817;11237011;11371513;11566882;11734547;11923872;12533095;12917689;12917691;14661020;15053880;15115762;15302935;15313887;15916963;15932940;16214042;16314424;16387653;16901786;16964248;17290220;17443180;17646170;17873522;17980597;17981138;18172164;18206972;18381289;18467330;18623064;18632802;18636086;19015242;19135894;19187765;19188362;19363159;19398555;19424180;19838211;19843541;19874889;19910467;20018852;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22100762;22128162;22216260;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493646;24493797;24715725;24896179;25197364;25305019;25578727;26992070;27600516;27846572;27862975;27920218;28514659;28832583;29242379;29351928;29393594;29493099;29508533;30429286;30833945;31154438;31217245;31844290;31848261;32157095;32350084;32488085;32897882;32983136;33298915;33338633;33592498;33968037;33981976;34012225;34561969;35051231;35251023;37217939;38216551;40596516;7578059;9288099;9425224;9427644;9558366;9880483", "class_list": "", "function": "Acts as a component of the SAGA (aka STAGA) transcription coactivator-HAT complex (PubMed:15932940, PubMed:18206972). Mediates the interaction of SAGA complex with the CRX and is involved in CRX-dependent gene activation (PubMed:15932940, PubMed:18206972). Probably involved in tethering the deubiquitination module within the SAGA complex (PubMed:24493646). Necessary for microtubule cytoskeleton stabilization (PubMed:22100762). Involved in neurodegeneration (PubMed:9288099)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a novel ataxin-7 protein enriched in the central nervous system suggests that expression of multiple polyglutamine-containing proteins may play a role in the neurodegeneration patterns characteristic of SCA7, [RefSeq, PubMed]; Mutant KRAS-activated circATXN7 fosters tumor immunoescape by sensitizing tumor-specific T cells to activation-induced cell death. Publication Status: Online-Only, [RefSeq, PubMed]; Polyglutamine expanded Ataxin-7 induces DNA damage and alters FUS localization and function., [RefSeq, PubMed]; The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 37-306 CAG repeats (near the N-terminus), compared to 4-35 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 29, "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": "B4E207;E9PHP9;O75328;O75329;Q9Y6P8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;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:0007601 visual perception;GO:0045893 positive regulation of DNA-templated transcription;GO:0007026 negative regulation of microtubule depolymerization", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "O15265-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20248-1", "uniprot_id": [ { "id": "CCNA2_HUMAN", "url": "https://www.uniprot.org/uniprot/P20248", "type": "external" } ], "mass": 48551.0, "length": 432, "protein_name": "Cyclin-A2", "gene_name": "CCNA2", "organism": "Human", "refseq_name": "cyclin-A2", "refseq_ac": [ { "id": "NP_001228", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001228", "type": "external" } ], "gene_names_uniprotkb": "CCNA2; CCN1; CCNA", "gene_names_refseq": "CCN1; CCNA2; CCNA", "protein_names_uniprotkb": "Cyclin-A2; Cyclin A; Cyclin-A", "protein_names_refseq": "cyclin-A2; cyclin-A", "tax_id": 9606, "disease": "embryonal carcinoma (Disease Ontology:DOID:3308); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:890); (R-HSA-1362300); (R-HSA-1538133); (R-HSA-171319); (R-HSA-174184); (R-HSA-176408); (R-HSA-187577); (R-HSA-2559582); (R-HSA-2559586); (R-HSA-5689880); (R-HSA-5693607); (R-HSA-6804116); (R-HSA-6804756); (R-HSA-6804757); (R-HSA-68911); (R-HSA-68949); (R-HSA-69017); (R-HSA-69273); (R-HSA-69478); (R-HSA-69563); (R-HSA-69656); (R-HSA-75035)", "pathway_count": 22, "publication_count": 434, "publication_id_list": "10037601;10323868;10330186;10339564;10375532;10393926;10395539;10432220;10435585;10435622;10444327;10454565;10500146;10548110;10559916;10570149;10600115;10604467;10608892;10652300;10669743;10673500;10673501;10679238;10710310;10722742;10827953;10859164;10884347;10891498;10980695;10980696;10982817;10995389;11046155;11063929;11080452;11114305;11139606;11231585;11238451;11239457;11285280;11301010;11313932;11340163;11359766;11376695;11390642;11447225;11454856;11504915;11511362;11546806;11551930;11566882;11585773;11598127;11739726;11740489;11780126;11812999;11897663;11907280;11923872;11931757;11959842;11983168;11988738;12064478;12152085;12393752;12393879;12411508;12545175;12556884;12578958;12692263;12699629;12702766;12730199;12754270;12766774;12791985;12832467;12851404;12914926;12917689;12917691;1312467;1384126;1396589;14507994;14532133;14576433;14580351;14633988;14661020;14679213;14702041;14743218;15024056;15053879;15053880;15060173;15064416;15133492;15189136;15189140;15190204;15199159;1535557;15369670;15456846;15458641;15510216;15572030;15655109;15707391;15722552;15774718;15788536;15790808;15866171;15916963;16141325;1614537;16148040;16153896;16163388;16166375;16209941;16214042;16262255;16322561;16327781;16339074;16360315;16402859;16474402;16522649;16530042;16582612;16626623;16845383;16858402;16885023;16901786;16964248;17108107;17121812;17172855;1717476;17290220;17349958;17395830;17443180;17533373;17575048;17591690;17694070;17698606;17719541;17873522;17923702;17928296;17965729;17980597;17981138;18171670;18172164;18194653;18202719;18267069;1828290;18285455;18358808;1836978;18384749;18394995;18411265;18438399;18467330;18490454;18523010;18555777;18555778;18632802;18636086;18691976;18719096;18805091;18923075;18971343;19015242;19121998;19135894;19160488;19179534;19188362;19192479;19357644;19363159;19369195;19383767;19398555;19419957;19424180;1967822;19734544;19756449;19783983;19805069;19816404;19838211;19874889;19910467;19965871;20096447;20154705;20228808;20233725;20351173;20360007;20368735;20404094;20438709;20452968;20501646;20524933;20713061;20817677;20934997;20959462;21052091;21239494;21240188;21263215;21317932;21325134;21335604;21362556;21498570;21540187;21571647;21596315;21659512;21659603;21680713;21730132;21730163;21777809;21813648;2183031;21849505;21900495;21962518;21979375;21986495;22021381;22024395;22029577;22085928;22128162;22172947;22178396;22216260;22231403;22424782;22579284;22634325;22635276;22661229;22661230;22792074;22802528;22802529;22977173;23000554;23064264;23103865;23159851;23186163;23242214;23345434;23395819;2342578;23468639;23481700;23485397;23486064;23657261;23676219;23824326;23825189;23846687;2392154;2405250;24056413;24101496;24145406;24260525;24493797;24706756;24714562;24715725;24874608;24896179;25113031;25122754;25128433;25197364;25240135;25271372;25305019;25558984;25576301;25578727;25620558;25659039;25733683;25880248;26154972;26992070;27452520;27600516;28218747;28228285;28514659;28832583;28834231;28904123;29154753;29178645;29242379;29437277;29493099;29557506;29695869;30315122;30524438;30779550;31092671;31217245;31291378;31413110;31530632;31723267;31844290;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33402344;33537174;33592498;33691108;33717175;33771996;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34509645;34932366;35051231;35251023;35561310;35580925;36010968;36172813;36215666;36241641;36284347;38363129;38640322;38704137;38904638;41100585;7578059;7629134;7630397;7686617;7737117;7743995;7784084;7799941;7957050;7958856;8033208;8119945;8202514;8234276;8242751;8242752;8319905;8384717;8413215;8413306;8428596;8440392;8479525;8617720;8684460;8688489;8756328;8884985;8887688;8939459;8954786;9199292;9268380;9670027;9679058;9705271;9724731;9733514;9733515;9780002;9843217;9925639", "class_list": "", "function": "CDK1 and CCNA2 play important roles in oral squamous cell carcinoma., [RefSeq, PubMed]; Cancer-associated Fibroblast-specific Expression of the Matricellular Protein CCN1 Coordinates Neovascularization and Stroma Deposition in Melanoma Metastasis., [RefSeq, PubMed]; Essential for the control of the cell cycle at G1/S and G2/M transition (PubMed:1312467). Functions through the formation of specific serine/threonine protein kinase holoenzyme complexes with the cyclin-dependent protein kinases CDK1 or CDK2. The cyclin subunit confers the substrate specificity of these complexes and differentially interacts with and activates CDK1 and CDK2 throughout the cell cycle (PubMed:41100585)., [UniProtKB, PubMed, PubMed]; Smoking-induced CCNA2 expression promotes lung adenocarcinoma tumorigenesis by boosting AT2/AT2-like cell differentiation., [RefSeq, PubMed]; The effect of miR-381 on proliferation and prognosis of breast cancer by altering CCNA2 expression., [RefSeq, PubMed]; The protein encoded by this gene belongs to the highly conserved cyclin family, whose members function as regulators of the cell cycle. This protein binds and activates cyclin-dependent kinase 2 and thus promotes transition through G1/S and G2/M. [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": 7, "reported_mutagensis": 0, "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": "A8K7B6;Q2M3U6;Q4W5P4;Q6LER8", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0019904 protein domain specific binding;GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005815 microtubule organizing center", "go_biological_process": "GO:0043687 post-translational protein modification;GO:0051301 cell division;GO:0000086 G2/M transition of mitotic cell cycle;GO:0071456 cellular response to hypoxia;GO:0007265 Ras protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 43.5, "record_id": "P20248-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYR6-1", "uniprot_id": [ { "id": "KRA33_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYR6", "type": "external" } ], "mass": 10365.0, "length": 98, "protein_name": "Keratin-associated protein 3-3", "gene_name": "KRTAP3-3", "organism": "Human", "refseq_name": "keratin-associated protein 3-3", "refseq_ac": [ { "id": "NP_149441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149441", "type": "external" } ], "gene_names_uniprotkb": "KRTAP3-3; KAP3.3; KRTAP3.3", "gene_names_refseq": "KAP3.3; KRTAP3-3; KRTAP3.3", "protein_names_uniprotkb": "Keratin-associated protein 3-3; High sulfur keratin-associated protein 3.3; Keratin-associated protein 3.3", "protein_names_refseq": "high sulfur keratin-associated protein 3.3; keratin-associated protein 3-3; keratin-associated protein 3.3", "tax_id": 9606, "disease": "", "pathway": " (hsa:85293); (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": 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": "Q52LP0;Q6NTD4", "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": "Q9BYR6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UI30-1", "uniprot_id": [ { "id": "TR112_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UI30", "type": "external" } ], "mass": 14199.0, "length": 125, "protein_name": "Multifunctional methyltransferase subunit TRM112-like protein", "gene_name": "TRMT112", "organism": "Human", "refseq_name": "multifunctional methyltransferase subunit TRM112-like protein isoform 2", "refseq_ac": [ { "id": "NP_001273011", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273011", "type": "external" } ], "gene_names_uniprotkb": "TRMT112; AD-001; HSPC152; HSPC170", "gene_names_refseq": "HSPC152; HSPC170; TRM112; TRMT11-2; TRMT112; hTrm112", "protein_names_uniprotkb": "Multifunctional methyltransferase subunit TRM112-like protein; tRNA methyltransferase 112 homolog", "protein_names_refseq": "TRM112-like protein; multifunctional methyltransferase subunit TRM112-like protein isoform 2; multifunctional methyltransferase subunit TRM112-like protein; tRNA methyltransferase 11-2 homolog; tRNA methyltransferase 112 homolog; tRNA methyltransferase subunit 11-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:51504); (R-HSA-156581); (R-HSA-6782315); (R-HSA-6790901); (R-HSA-72764)", "pathway_count": 5, "publication_count": 156, "publication_id_list": "10331075;10358005;10430867;10514445;10606270;10644686;10931946;10978155;10982862;11027153;11081632;11111046;11511179;11935223;11978965;12163696;12403464;12417735;12590576;13981612;15199136;15788214;15861136;15870694;15994936;16043508;16267626;16381836;16407288;16424344;16782898;17071714;17322306;17636026;18539146;18567810;1861871;18669648;19017811;19033376;19414587;19463982;19651622;19690332;20047967;2006156;20068231;20112406;20123966;20308323;20354154;20584901;20934997;21059936;21131277;21193388;22344696;22424782;22591353;22995836;23042678;23048041;23301498;23381944;23391857;23604283;24086612;24126054;24204302;24366607;24714562;24715725;24734162;24901367;25261850;25404562;25411247;25418920;25525153;25653167;25851604;25916855;26085946;26160102;26196125;26310293;26992070;27055666;27084949;27570878;27920218;28063628;28228285;28832583;28904123;29242379;29393594;29557506;29632046;29632711;29786170;30524438;31061526;31154438;31328227;31481669;31530632;31632689;31636962;31844290;31848261;31998317;32157095;32161166;32217665;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32969463;33141586;33298915;33392160;33428944;33691108;33936100;33968037;33981976;34019948;34087483;34405274;34509645;34561969;34669960;34948388;35033535;35051231;35088887;35251023;35561310;35580925;36610787;37283053;37938771;7990965;8968737;9175157;9211966;9430663;9512526;9586999;9712840;9851972", "class_list": "", "function": "Acts as an activator of both rRNA/tRNA and protein methyltransferases (PubMed:18539146, PubMed:20308323, PubMed:25851604, PubMed:31061526, PubMed:31328227, PubMed:31636962, PubMed:37283053). Together with methyltransferase BUD23, methylates the N(7) position of a guanine in 18S rRNA (PubMed:25851604). The heterodimer with N6AMT1/HEMK2 catalyzes N5-methylation of ETF1 on 'Gln-185', using S-adenosyl L-methionine as methyl donor (PubMed:18539146, PubMed:31061526, PubMed:31636962). The heterodimer with N6AMT1/HEMK2 also monomethylates 'Lys-12' of histone H4 (H4K12me1) (PubMed:31061526). The heterodimer with ALKBH8 catalyzes the methylation of 5-carboxymethyl uridine to 5-methylcarboxymethyl uridine at the wobble position of the anticodon loop in target tRNA species (PubMed:20308323). Together with methyltransferase THUMPD3, catalyzes the formation of N(2)-methylguanosine at position 6 in a broad range of tRNA substrates and at position 7 of tRNA(Trp) (PubMed:34669960, PubMed:37283053). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production (PubMed:25851604). Together with methyltransferase METTL5, specifically methylates the 6th position of adenine in position 1832 of 18S rRNA (PubMed:31328227, PubMed:33428944, PubMed:35033535, PubMed:37283053)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; DIMT1L and WBSCR22-TRMT112 are required for distinct pre-rRNA processing reactions leading to synthesis of 18S rRNA. Ribosome biogenesis requires the presence of the modification enzyme rather than its RNA-modifying catalytic activity., [RefSeq, PubMed]; Human TRMT112-Methyltransferase Network Consists of Seven Partners Interacting with a Common Co-Factor. Publication Status: Online-Only, [RefSeq, PubMed]; THUMPD3-TRMT112 is a m2G methyltransferase working on a broad range of tRNA substrates., [RefSeq, PubMed]; WBSCR22 and TRMT112 synergistically suppress cell proliferation, invasion and tumorigenesis in pancreatic cancer via transcriptional regulation of ISG15., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 13, "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": "B2R539;J3KNG5;Q3MHC7;Q8N2Z4", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0008276 protein methyltransferase activity;GO:0141106 tRNA methyltransferase activator 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:0031167 rRNA methylation;GO:0070476 rRNA (guanine-N7)-methylation;GO:2000234 positive regulation of rRNA processing;GO:0045815 transcription initiation-coupled chromatin remodeling;GO:0002098 tRNA wobble uridine modification", "synthesized_glycan_count": 0, "hit_score": 15.9, "record_id": "Q9UI30-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96S96-1", "uniprot_id": [ { "id": "PEBP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96S96", "type": "external" } ], "mass": 25733.0, "length": 227, "protein_name": "Phosphatidylethanolamine-binding protein 4", "gene_name": "PEBP4", "organism": "Human", "refseq_name": "phosphatidylethanolamine-binding protein 4 precursor", "refseq_ac": [ { "id": "NP_659399", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659399", "type": "external" } ], "gene_names_uniprotkb": "PEBP4; CORK1; PRO4408", "gene_names_refseq": "CORK-1; CORK1; GWTM1933; HEL-S-300; PEBP-4; PEBP4; PRO4408; hPEBP4", "protein_names_uniprotkb": "Phosphatidylethanolamine-binding protein 4; PEBP-4; Protein cousin-of-RKIP 1; hPEBP4", "protein_names_refseq": "cousin-of-RKIP 1 protein; epididymis secretory protein Li 300; epididymis secretory sperm binding protein; phosphatidylethanolamine-binding protein 4 precursor; protein cousin-of-RKIP 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:157310)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;12975309;15302887;15340161;16865237;18519826;19197339;27033522;29375131;29557506;30255656;30367510;31402200;33752499;35158167", "class_list": "", "function": "Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Data show that PEBP4 participates in the control of muscle cell differentiation by modulating the activity of MEK and ERK., [RefSeq, PubMed]; Diagnostic value of phosphatidylethanolamine binding protein 4 levels in patients receiving nursing interventions for advanced chronic kidney disease., [RefSeq, PubMed]; High PEBP4 expression is associated with glioma cell growth and invasiveness., [RefSeq, PubMed]; Overexpression of phosphatidylethanolamine-binding protein 4 (PEBP4) associates with recurrence of meningiomas., [RefSeq, PubMed]; PEBP4 colocalised with IgA and CD19., [RefSeq, PubMed]; Promotes AKT phosphorylation, suggesting a possible role in the PI3K-AKT signaling pathway., [UniProtKB, PubMed]; Silencing of hPEBP4, an important potential target, may be a promising approach for the treatment of ovarian cancer., [RefSeq, PubMed]; The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine proteases (Wang et al., 2004 [PubMed 15302887]).[supplied by OMIM, Dec 2008]., [RefSeq]; These results suggest that PEBP4 may promote tumorigenesis in non-small cell lung cancer by regulating cell proliferation and epithelial-to-mesenchymal transition via activation of the Shh 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": 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": 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": 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": "Q5EVA1;Q8WW74", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q96S96-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12778-1", "uniprot_id": [ { "id": "FOXO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12778", "type": "external" } ], "mass": 69662.0, "length": 655, "protein_name": "Forkhead box protein O1", "gene_name": "FOXO1", "organism": "Human", "refseq_name": "forkhead box protein O1", "refseq_ac": [ { "id": "NP_002006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002006", "type": "external" } ], "gene_names_uniprotkb": "FOXO1; FKHR; FOXO1A", "gene_names_refseq": "FKH1; FKHR; FOXO1A; FOXO1", "protein_names_uniprotkb": "Forkhead box protein O1; Forkhead box protein O1A; Forkhead in rhabdomyosarcoma", "protein_names_refseq": "forkhead box protein O1A; forkhead box protein O1; forkhead, Drosophila, homolog of, in rhabdomyosarcoma", "tax_id": 9606, "disease": "metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); prostate cancer (Disease Ontology:DOID:10283); Parkinson's disease (Disease Ontology:DOID:14330); alveolar rhabdomyosarcoma (Disease Ontology:DOID:4051); congestive heart failure (Disease Ontology:DOID:6000); severe combined immunodeficiency (Disease Ontology:DOID:627); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:2308); (R-HSA-198693); (R-HSA-210745); (R-HSA-211163); (R-HSA-5674400); (R-HSA-5687128); (R-HSA-6785807); (R-HSA-9614399); (R-HSA-9614657); (R-HSA-9615017); (R-HSA-9617629); (R-HSA-9617828)", "pathway_count": 12, "publication_count": 397, "publication_id_list": "10023775;10102273;10217147;10219247;10358014;10358075;10358076;10369418;10377430;10470034;10480625;10485710;10490848;10510379;10586089;10867011;10913147;10975528;11058569;11084045;11104795;11120780;11237865;11274386;11278437;11278729;11311120;11356008;11404481;11463377;11570877;11584266;11715018;11777915;11779849;11804587;11884591;11960372;11964479;11980723;12114024;12150915;12172553;12223527;12228231;12239572;12242343;12244303;12524439;12546821;12560069;12600988;12668767;12767043;12808096;12832402;12857750;12915405;14576824;14617782;14634100;14664696;14701673;14712222;14727512;14976264;15084259;15116091;15169778;15220471;15226418;15261459;15353558;15457186;15458387;15509806;15527798;15538386;15577943;15584925;15668399;15805299;15869882;15890677;15950906;15987244;16006742;16007214;16048438;16107692;16114898;16157701;16203862;16205632;16236134;16272144;16360641;16371649;16397018;16451196;16510571;16540365;16540465;16606674;16670089;16783365;16840535;16943287;16971392;16973613;17024043;17038621;17113751;17161475;17244620;17254968;17303659;17395884;17427945;17458857;17525332;17572495;17596878;17611497;17728103;17947239;18031682;18158893;18162290;18226221;18235225;18243101;18248330;18256540;18319717;18353781;18356527;18394876;18408765;18420577;18444242;18447642;18593906;18593949;18644862;18644889;18644974;18669648;18720373;18786403;18951090;18954143;19124156;19166925;19185846;19221179;19397496;19413330;19416966;19473979;19483080;19513348;19549905;19593530;19644473;19664994;19887561;20068231;20236090;20357092;20440266;20489726;20493732;20536836;20543837;20543840;20596890;20668652;20685959;20734105;20849292;20863279;20978166;21102457;21148296;21177856;21177870;21245099;21252155;21298325;21317288;21329875;21329882;21372320;21406692;21536589;21540332;21602511;21689689;21730069;21937440;21969818;21994466;22025163;22028912;22046235;22205702;22267219;22279049;22280365;22383755;22384145;22393355;22412893;22505454;22508986;22693070;22800433;22851691;22869377;22898666;22928011;23069990;23086340;23099444;23124025;23172665;23301498;23455323;23469153;23481700;23555662;23580232;23665396;23707940;23878308;23918930;23967200;24028821;24040102;24047697;24097101;24112473;24309468;24452601;24525530;24556689;24585635;24743777;24843827;24886245;25009184;25065674;25136826;25234944;25339975;25576301;25603236;25645385;25843800;25944660;26154972;26375851;26600389;26715362;26751215;26789264;26879559;26992070;27010363;27397612;27534430;27547294;27561725;27600516;27602284;27655845;27862975;27920218;28099936;28218747;28228285;28675664;28713921;28832583;28834231;28851713;28904123;28981116;28993609;29242379;29351928;29393594;29423932;29437277;29493099;29508533;29533017;29533771;29557506;29632046;29632711;29786170;30002415;30015961;30059200;30261343;30413788;30429286;30559384;30620550;30690883;30784271;30833945;31063815;31092671;31154438;31492838;31519735;31530632;31819175;31844113;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32574038;32704044;32787969;32938616;32983136;33141586;33592498;33691108;33968037;33981976;34087483;34171305;34405274;34509645;35051231;35132380;35191464;35254053;35494241;35580925;36010968;36284347;37541260;37938771;38501674;39198693;39206323;39220194;39374570;39429035;41102146;7510216;7512451;7529288;7559638;7795521;7796300;7799959;7898939;7907877;8085155;8107774;8187070;8275086;8602263;8621622;8663118;8668165;8797861;8816495;9013879;9381178;9478990;9479491;9535855;9628874;9651359;9723655;9736340;9747882;9812896;9822675;9829964;9874564;9895304", "class_list": "", "function": "Forkhead box O1 transcription factor; a therapeutic target for diabetic cardiomyopathy. Review article Publication Status: Online-Only, [RefSeq, PubMed]; FoxO1-Overexpressed Small Extracellular Vesicles Derived from hPDLSCs Promote Periodontal Tissue Regeneration by Reducing Mitochondrial Dysfunction to Regulate Osteogenesis and Inflammation. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibition of the FOXO1-ROCK1 axis mitigates cardiomyocyte injury under chronic hypoxia in Tetralogy of Fallot by maintaining mitochondrial quality control., [RefSeq, PubMed]; MiR-132-3p downregulates FOXO1 in CD4[+] T cells and is associated with disease manifestations in patients with lupus., [RefSeq, PubMed]; SIRT1 silencing ameliorates malignancy of non-small cell lung cancer via activating FOXO1. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in myogenic growth and differentiation. Translocation of this gene with PAX3 has been associated with alveolar rhabdomyosarcoma. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor that is the main target of insulin signaling and regulates metabolic homeostasis in response to oxidative stress (PubMed:10358076, PubMed:12228231, PubMed:15220471, PubMed:15890677, PubMed:18356527, PubMed:19221179, PubMed:20543840, PubMed:21245099). Binds to the insulin response element (IRE) with consensus sequence 5'-TT[G/A]TTTTG-3' and the related Daf-16 family binding element (DBE) with consensus sequence 5'-TT[G/A]TTTAC-3' (PubMed:10358076). Activity suppressed by insulin (PubMed:10358076). Main regulator of redox balance and osteoblast numbers and controls bone mass (By similarity). Orchestrates the endocrine function of the skeleton in regulating glucose metabolism (By similarity). 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). Acts synergistically with ATF4 to suppress osteocalcin/BGLAP activity, increasing glucose levels and triggering glucose intolerance and insulin insensitivity (By similarity). Also suppresses the transcriptional activity of RUNX2, an upstream activator of osteocalcin/BGLAP (By similarity). Acts as an inhibitor of glucose sensing in pancreatic beta cells by acting as a transcription repressor and suppressing expression of PDX1 (By similarity). In hepatocytes, promotes gluconeogenesis by acting together with PPARGC1A and CEBPA to activate the expression of genes such as IGFBP1, G6PC1 and PCK1 (By similarity). Also promotes gluconeogenesis by directly promoting expression of PPARGC1A and G6PC1 (PubMed:17024043). Important regulator of cell death acting downstream of CDK1, PKB/AKT1 and STK4/MST1 (PubMed:18356527, PubMed:19221179). Promotes neural cell death (PubMed:18356527). Mediates insulin action on adipose tissue (By similarity). Regulates the expression of adipogenic genes such as PPARG during preadipocyte differentiation and, adipocyte size and adipose tissue-specific gene expression in response to excessive calorie intake (By similarity). Regulates the transcriptional activity of GADD45A and repair of nitric oxide-damaged DNA in beta-cells (By similarity). Required for the autophagic cell death induction in response to starvation or oxidative stress in a transcription-independent manner (PubMed:20543840). Mediates the function of MLIP in cardiomyocytes hypertrophy and cardiac remodeling (By similarity). Positive regulator of apoptosis in cardiac smooth muscle cells as a result of its transcriptional activation of pro-apoptotic genes (PubMed:19483080). Regulates endothelial cell (EC) viability and apoptosis in a PPIA/CYPA-dependent manner via transcription of CCL2 and BCL2L11 which are involved in EC chemotaxis and apoptosis (PubMed:31063815)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, 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": 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": 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": 59, "reported_mutagensis": 18, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "O43523;Q5VYC7;Q6NSK6", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0031625 ubiquitin protein ligase binding;GO:0003676 nucleic acid 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:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0070417 cellular response to cold;GO:0001659 temperature homeostasis;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0032869 cellular response to insulin stimulus", "synthesized_glycan_count": 0, "hit_score": 40.7, "record_id": "Q12778-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15111-1", "uniprot_id": [ { "id": "IKKA_HUMAN", "url": "https://www.uniprot.org/uniprot/O15111", "type": "external" } ], "mass": 84640.0, "length": 745, "protein_name": "Inhibitor of nuclear factor kappa-B kinase subunit alpha", "gene_name": "CHUK", "organism": "Human", "refseq_name": "inhibitor of nuclear factor kappa-B kinase subunit alpha isoform 1", "refseq_ac": [ { "id": "NP_001269", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269", "type": "external" } ], "gene_names_uniprotkb": "CHUK; IKKA; TCF16", "gene_names_refseq": "BPS2; CHUK; IKBKA; IKK-1; IKK-alpha; IKK1; IKKA; NFKBIKA; TCF16", "protein_names_uniprotkb": "Inhibitor of nuclear factor kappa-B kinase subunit alpha; 2.7.11.10; Conserved helix-loop-helix ubiquitous kinase; I-kappa-B kinase 1; I-kappa-B kinase alpha; IKK-1; IKK-A; IKK-alpha; IKK1; IkBKA; IkappaB kinase; NFKBIKA; Nuclear factor NF-kappa-B inhibitor kinase alpha; TCF-16; Transcription factor 16", "protein_names_refseq": "I-kappa-B kinase 1; I-kappa-B kinase-alpha; IKK-a kinase; IkB kinase alpha subunit; Nuclear factor NFkappaB inhibitor kinase alpha; conserved helix-loop-helix ubiquitous kinase; inhibitor of nuclear factor kappa-B kinase subunit alpha isoform 1; inhibitor of nuclear factor kappa-B kinase subunit alpha; transcription factor 16", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); fetal encasement syndrome (Disease Ontology:DOID:0060647); prostate cancer (Disease Ontology:DOID:10283); colon cancer (Disease Ontology:DOID:219); liver cancer (Disease Ontology:DOID:3571); muscular atrophy (Disease Ontology:DOID:767); Bartsocas-Papas syndrome 2 (MONDO:MONDO:0859154)", "pathway": " (hsa:1147); (R-HSA-1169091); (R-HSA-1236974); (R-HSA-168638); (R-HSA-168927); (R-HSA-1810476); (R-HSA-198323); (R-HSA-202424); (R-HSA-2871837); (R-HSA-445989); (R-HSA-5357905); (R-HSA-5357956); (R-HSA-5602636); (R-HSA-5603027); (R-HSA-5603029); (R-HSA-5607761); (R-HSA-5607764); (R-HSA-5674400); (R-HSA-5676590); (R-HSA-5684264); (R-HSA-9020702); (R-HSA-933542); (R-HSA-933543); (R-HSA-937039); (R-HSA-937041); (R-HSA-9705671); (R-HSA-975144); (R-HSA-9758274); (R-HSA-9833482); (R-HSA-9860276); (R-HSA-9860927); (R-HSA-9909505)", "pathway_count": 32, "publication_count": 649, "publication_id_list": 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"class_list": "", "function": "Cytokines-activated nuclear IKKalpha-FAT10 pathway induces breast cancer tamoxifen-resistance., [RefSeq, PubMed]; GRP78 recognizes EV-F 3D protein and activates NF-kappaB to repress virus replication by interacting with CHUK/IKBKB., [RefSeq, PubMed]; IL-1beta stimulates a novel, IKKalpha -dependent, NIK -independent activation of non-canonical NFkappaB signalling., [RefSeq, PubMed]; Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses (PubMed:18626576, PubMed:9244310, PubMed:9252186, PubMed:9346484). Acts as a part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation and phosphorylates inhibitors of NF-kappa-B on serine residues (PubMed:18626576, PubMed:35952808, PubMed:9244310, PubMed:9252186, PubMed:9346484). These modifications allow polyubiquitination of the inhibitors and subsequent degradation by the proteasome (PubMed:18626576, PubMed:9244310, PubMed:9252186, PubMed:9346484). In turn, free NF-kappa-B is translocated into the nucleus and activates the transcription of hundreds of genes involved in immune response, growth control, or protection against apoptosis (PubMed:18626576, PubMed:9244310, PubMed:9252186, PubMed:9346484). Negatively regulates the pathway by phosphorylating the scaffold protein TAXBP1 and thus promoting the assembly of the A20/TNFAIP3 ubiquitin-editing complex (composed of A20/TNFAIP3, TAX1BP1, and the E3 ligases ITCH and RNF11) (PubMed:21765415). Therefore, CHUK plays a key role in the negative feedback of NF-kappa-B canonical signaling to limit inflammatory gene activation. As part of the non-canonical pathway of NF-kappa-B activation, the MAP3K14-activated CHUK/IKKA homodimer phosphorylates NFKB2/p100 associated with RelB, inducing its proteolytic processing to NFKB2/p52 and the formation of NF-kappa-B RelB-p52 complexes (PubMed:20501937). In turn, these complexes regulate genes encoding molecules involved in B-cell survival and lymphoid organogenesis. Also participates in the negative feedback of the non-canonical NF-kappa-B signaling pathway by phosphorylating and destabilizing MAP3K14/NIK. Within the nucleus, phosphorylates CREBBP and consequently increases both its transcriptional and histone acetyltransferase activities (PubMed:17434128). Modulates chromatin accessibility at NF-kappa-B-responsive promoters by phosphorylating histones H3 at 'Ser-10' that are subsequently acetylated at 'Lys-14' by CREBBP (PubMed:12789342). Additionally, phosphorylates the CREBBP-interacting protein NCOA3. Also phosphorylates FOXO3 and may regulate this pro-apoptotic transcription factor (PubMed:15084260). Phosphorylates RIPK1 at 'Ser-25' which represses its kinase activity and consequently prevents TNF-mediated RIPK1-dependent cell death (By similarity). Phosphorylates AMBRA1 following mitophagy induction, promoting AMBRA1 interaction with ATG8 family proteins and its mitophagic activity (PubMed:30217973)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The host antiviral protein SAMHD1 suppresses NF-kappaB activation by interacting with the IKK complex during inflammatory responses and viral infection., [RefSeq, PubMed]; This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [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": 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": 7, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O14666;Q13132;Q5W0I4;Q92467", "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": "2.7.11.25", "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": "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": "2.3.2.-", "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": "2.3.2.34", "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": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "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": "6.2.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.64", "type": "external" }, { "id": "3.4.22.63", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.63", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" } ], "go_molecular_function": "GO:0008384 IkappaB kinase activity;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0009898 cytoplasmic side of plasma membrane;GO:0008385 IkappaB kinase complex", "go_biological_process": "GO:0032727 positive regulation of interferon-alpha production;GO:0061847 response to cholecystokinin;GO:0003009 skeletal muscle contraction;GO:0006954 inflammatory response;GO:0006955 immune response", "synthesized_glycan_count": 0, "hit_score": 65.5, "record_id": "O15111-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49789-1", "uniprot_id": [ { "id": "FHIT_HUMAN", "url": "https://www.uniprot.org/uniprot/P49789", "type": "external" } ], "mass": 16858.0, "length": 147, "protein_name": "Bis(5'-adenosyl)-triphosphatase", "gene_name": "FHIT", "organism": "Human", "refseq_name": "bis(5'-adenosyl)-triphosphatase isoform 1", "refseq_ac": [ { "id": "NP_001159715", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159715", "type": "external" } ], "gene_names_uniprotkb": "FHIT", "gene_names_refseq": "AP3Aase; FHIT; FRA3B", "protein_names_uniprotkb": "Bis(5'-adenosyl)-triphosphatase; 2.7.7.51; 3.6.1.29; 3.6.2.1; 3.9.1.-; AP3A hydrolase; AP3Aase; Adenosine 5'-monophosphoramidase FHIT; Adenylylsulfatase; Adenylylsulfate-ammonia adenylyltransferase; Diadenosine 5',5'''-P1,P3-triphosphate hydrolase; Dinucleosidetriphosphatase; Fragile histidine triad protein", "protein_names_refseq": "AP3A hydrolase; adenosine 5'-monophosphoramidase FHIT; adenylylsulfatase; adenylylsulfate-ammonia adenylyltransferase; bis(5'-adenosyl)-triphosphatase isoform 1; bis(5'-adenosyl)-triphosphatase; diadenosine 5',5'''-P1,P3-triphosphate hydrolase; dinucleosidetriphosphatase", "tax_id": 9606, "disease": "Muir-Torre syndrome (Disease Ontology:DOID:0050465); prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054); squamous cell carcinoma (Disease Ontology:DOID:1749); granulosa cell tumor (Disease Ontology:DOID:2999); invasive ductal carcinoma (Disease Ontology:DOID:3008); lung non-small cell carcinoma (Disease Ontology:DOID:3908); seminoma (Disease Ontology:DOID:4440); renal cell carcinoma (Disease Ontology:DOID:4450); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:2272)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11085938;11237011;12574506;15007172;15182206;15313915;15835917;16407838;16990010;17142325;18077326;18694747;19004824;19622739;23947369;23993961;24715725;24722188;25283145;26181368;29508533;31844290;31848261;32157095;32350084;33298915;36766695;38069335;38234243;8598045;8794732;9012482;9261067;9323207;9543008;9576908;9689122", "class_list": "", "function": "Expression of Tumor Suppressor FHIT Is Regulated by the LINC00173-SNAIL Axis in Human Lung Adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Integrated analysis of FHIT gene alterations in cancer. Review article, [RefSeq, PubMed]; Intramitochondrial calcium regulation by the FHIT gene product sensitizes to apoptosis., [RefSeq, PubMed]; Loss of FHIT function leads to nucleotide imbalance, spontaneous replication stress, and DNA breaks. [review] Review article, [RefSeq, PubMed]; Possesses dinucleoside triphosphate hydrolase activity (PubMed:12574506, PubMed:15182206, PubMed:8794732, PubMed:9323207, PubMed:9543008, PubMed:9576908). Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP (PubMed:12574506, PubMed:15182206, PubMed:8794732, PubMed:9323207, PubMed:9543008, PubMed:9576908). Can also hydrolyze P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activity with ATP (PubMed:8794732). Exhibits adenylylsulfatase activity, hydrolyzing adenosine 5'-phosphosulfate to yield AMP and sulfate (PubMed:18694747). Exhibits adenosine 5'-monophosphoramidase activity, hydrolyzing purine nucleotide phosphoramidates with a single phosphate group such as adenosine 5'monophosphoramidate (AMP-NH2) to yield AMP and NH2 (PubMed:18694747). Exhibits adenylylsulfate-ammonia adenylyltransferase, catalyzing the ammonolysis of adenosine 5'-phosphosulfate resulting in the formation of adenosine 5'-phosphoramidate (PubMed:26181368). Also catalyzes the ammonolysis of adenosine 5-phosphorofluoridate and diadenosine triphosphate (PubMed:26181368). Modulates transcriptional activation by CTNNB1 and thereby contributes to regulate the expression of genes essential for cell proliferation and survival, such as CCND1 and BIRC5 (PubMed:18077326). Plays a role in the induction of apoptosis via SRC and AKT1 signaling pathways (PubMed:16407838). Inhibits MDM2-mediated proteasomal degradation of p53/TP53 and thereby plays a role in p53/TP53-mediated apoptosis (PubMed:15313915). Induction of apoptosis depends on the ability of FHIT to bind P(1)-P(3)-bis(5'-adenosyl) triphosphate or related compounds, but does not require its catalytic activity, it may in part come from the mitochondrial form, which sensitizes the low-affinity Ca(2+) transporters, enhancing mitochondrial calcium uptake (PubMed:12574506, PubMed:19622739). Functions as a tumor suppressor (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; The Rosetta Stone Hypothesis-Based Interaction of the Tumor Suppressor Proteins Nit1 and Fhit. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a P1-P3-bis(5'-adenosyl) triphosphate hydrolase involved in purine metabolism. This gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. The encoded protein is also a tumor suppressor, as loss of its activity results in replication stress and DNA damage. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 12, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2IAS9;A2IAT0;A2IAT6;A8K1A9;Q45QG9;Q6IU12", "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": "3.4.22.-", "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": "3.6.1.29", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.29", "type": "external" }, { "id": "2.7.7.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.51", "type": "external" }, { "id": "3.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.2.1", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0000166 nucleotide binding;GO:0031625 ubiquitin protein ligase binding;GO:0047710 bis(5'-adenosyl)-triphosphatase activity;GO:0047352 adenylylsulfate-ammonia adenylyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0015964 diadenosine triphosphate catabolic process;GO:0006351 DNA-templated transcription;GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator;GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:0006163 purine nucleotide metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "P49789-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q1W6H9-1", "uniprot_id": [ { "id": "F110C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q1W6H9", "type": "external" } ], "mass": 33863.0, "length": 321, "protein_name": "Protein FAM110C", "gene_name": "FAM110C", "organism": "Human", "refseq_name": "protein FAM110C", "refseq_ac": [ { "id": "NP_001071178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001071178", "type": "external" } ], "gene_names_uniprotkb": "FAM110C", "gene_names_refseq": "FAM110C", "protein_names_uniprotkb": "Protein FAM110C", "protein_names_refseq": "protein FAM110C", "tax_id": 9606, "disease": "", "pathway": " (hsa:642273)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "17499476;19698782;23186163;29242379;29557506;35318648;36284347", "class_list": "", "function": "Depletion of FAM110C by short interfering RNA reduced integrin-mediated filopodia formation, hepatocyte growth factor-induced migration, and phosphorylation of the Akt1 kinase in the epithelial cell line HepG2., [RefSeq, PubMed]; Ectopic eexpression impairs cell cycle progression through the G1 phase; overexpression induces aberrant microtubules., [RefSeq, PubMed]; May play a role in microtubule organization. May play a role in cell spreading and cell migration of epithelial cells; the function may involve the AKT1 signaling pathway., [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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0043014 alpha-tubulin binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005813 centrosome;GO:0005874 microtubule;GO:0005938 cell cortex", "go_biological_process": "GO:0030335 positive regulation of cell migration;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0060491 regulation of cell projection assembly", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q1W6H9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6L8G9-1", "uniprot_id": [ { "id": "KRA56_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6L8G9", "type": "external" } ], "mass": 11784.0, "length": 129, "protein_name": "Keratin-associated protein 5-6", "gene_name": "KRTAP5-6", "organism": "Human", "refseq_name": "keratin-associated protein 5-6", "refseq_ac": [ { "id": "NP_001012416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012416", "type": "external" } ], "gene_names_uniprotkb": "KRTAP5-6; KAP5.6; KRTAP5.6", "gene_names_refseq": "KRTAP5-6; KRTAP5.6", "protein_names_uniprotkb": "Keratin-associated protein 5-6; Keratin-associated protein 5.6; Ultrahigh sulfur keratin-associated protein 5.6", "protein_names_refseq": "keratin-associated protein 5-6; keratin-associated protein 5.6; ultrahigh sulfur keratin-associated protein 5.6", "tax_id": 9606, "disease": "", "pathway": " (hsa:440023); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "15144888;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 protein (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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A1L452", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6L8G9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11021-1", "uniprot_id": [ { "id": "BIP_HUMAN", "url": "https://www.uniprot.org/uniprot/P11021", "type": "external" } ], "mass": 72333.0, "length": 654, "protein_name": "Endoplasmic reticulum chaperone BiP", "gene_name": "HSPA5", "organism": "Human", "refseq_name": "endoplasmic reticulum chaperone BiP precursor", "refseq_ac": [ { "id": "NP_005338", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005338", "type": "external" } ], "gene_names_uniprotkb": "HSPA5; GRP78", "gene_names_refseq": "BIP; GRP78; HEL-S-89n; HSPA5", "protein_names_uniprotkb": "Endoplasmic reticulum chaperone BiP; 3.6.4.10; 78 kDa glucose-regulated protein; BiP; Binding-immunoglobulin protein; GRP-78; HSP70 family protein 5; Heat shock protein 70 family protein 5; Heat shock protein family A member 5; Immunoglobulin heavy chain-binding protein", "protein_names_refseq": "78 kDa glucose-regulated protein; HSP70 family protein 5; binding-immunoglobulin protein; endoplasmic reticulum chaperone BiP precursor; endoplasmic reticulum chaperone BiP; endoplasmic reticulum lumenal Ca(2+)-binding protein grp78; epididymis secretory sperm binding protein Li 89n; heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa); heat shock protein 70 family protein 5; heat shock protein family A member 5; immunoglobulin heavy chain-binding protein", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); dopamine beta-hydroxylase deficiency (Disease Ontology:DOID:0090145); post-traumatic stress disorder (Disease Ontology:DOID:2055); transient cerebral ischemia (Disease Ontology:DOID:224); high grade glioma (Disease Ontology:DOID:3070); ureteral obstruction (Disease Ontology:DOID:5199); rheumatoid arthritis (Disease Ontology:DOID:7148); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:3309); (R-HSA-114608); (R-HSA-3371453); (R-HSA-381033); (R-HSA-381042); (R-HSA-381070); (R-HSA-381183); (R-HSA-8874177); (R-HSA-983170); (R-HSA-9909505); (R-HSA-9918432); (R-HSA-9918485)", "pathway_count": 12, "publication_count": 329, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10026192;10064069;10203015;10228156;10564271;10600378;10777614;10825291;10835430;10856300;10954706;10958673;10982397;11069889;11158310;11160188;11160214;11163199;11163209;11237011;11256944;11337487;11514579;11747420;11779464;11821395;11897784;11907036;12110171;12370288;12411443;12436109;12436110;12475965;12643545;12645939;12682107;12699405;12853476;12917326;12974469;1435334;14630798;14681859;14718384;1480470;14973138;15098107;15286279;15297306;15299016;15314157;15364926;15507651;1550958;15657421;15802566;15838506;1586970;15927284;16278218;16288713;16408927;16465444;16473882;16973740;17026957;17056546;17081065;17088086;17287340;17316621;17522056;1754405;17656363;17956313;18057259;18235501;18235502;18242182;18264092;18266465;18502753;18550409;18566446;18621045;18664456;18991276;19117535;19119025;19193869;19229036;19261456;19342655;19361863;19426129;19538957;19575639;19615748;19622636;19693772;19851281;19914676;20068231;20072699;20112406;20208072;2038058;20484814;20605430;21050182;21080038;21289099;21526763;21654843;22121020;22465953;22541429;22637475;22661428;22689054;22735644;22905912;2294010;22940245;23084921;23349634;23349863;23584533;23640497;23658209;23719902;23769672;2377606;23921388;23990668;24074594;24129315;24190977;24275569;24355926;2450918;24714562;24715725;25114211;25218447;25418920;25447309;25502872;25505266;25576301;25601083;25645385;25755297;25813380;26045166;26056282;26101251;26154972;26208004;26212330;26375851;26468529;26648175;26655470;26657846;26728094;26768311;26811146;26853435;26940976;26992070;27090790;27159390;27383988;27397612;27452731;27600516;27726376;27832191;27846572;27862975;27920218;28053106;28218747;28228285;28228593;28286085;28332555;2840249;28514659;28832583;28834231;28871256;28904123;29242379;29314611;29317506;29393594;29437277;29493099;29497057;29508533;29557506;29610346;29632711;29719251;29742433;29769354;29774024;29786170;29789417;30059200;30169894;30224801;30315122;30348823;30397120;30429286;30444036;30484775;30524438;30551605;30626607;30779550;30833945;31020640;31092671;31217245;31222486;31434731;31455651;31530632;31611695;31720911;31844290;31848261;31998317;32119511;32157095;32161166;32162841;32350084;32357974;32387766;32487760;32488085;32502341;32897882;32938616;32983136;33043033;33123756;33141586;33214551;33298915;33392160;33432092;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34211107;34357683;34433824;34509645;34561224;34725712;34932366;35051231;35083852;35154160;35215835;35251023;35318648;35459695;35580925;36010968;36042349;36215666;36241641;36284347;36739529;36793726;37217939;37340703;37938771;38387030;38665916;38710792;38793607;39036837;39049649;39088921;39153651;39227586;39395807;39534244;39990658;40596516;40914422;6457647;7585962;7642652;7876241;8342042;8467233;8509403;8721986;8946918;9150946;9150948;9305631;9605141;9637683;9837962;9873016;9920933;9931503", "class_list": "", "function": "(Microbial infection) Acts as a receptor for 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:20484814, PubMed:24355926, PubMed:32487760). Acts as a receptor for R.delemar CotH3 in nasal epithelial cells, which may be an early step in rhinoorbital/cerebral mucormycosis (RCM) disease progression (PubMed:32487760)., [UniProtKB, PubMed, PubMed, PubMed]; (Microbial infection) Plays an important role in viral binding to the host cell membrane and entry for several flaviruses such as Dengue virus, Zika virus and Japanese encephalitis virus (PubMed:15098107, PubMed:28053106, PubMed:33432092). Acts as a component of the cellular receptor for Dengue virus serotype 2/DENV-2 on human liver cells (PubMed:15098107)., [UniProtKB, PubMed, PubMed, PubMed]; Endoplasmic reticulum chaperone that plays a key role in protein folding and quality control in the endoplasmic reticulum lumen (PubMed:2294010, PubMed:23769672, PubMed:23990668, PubMed:28332555). Involved in the correct folding of proteins and degradation of misfolded proteins via its interaction with DNAJC10/ERdj5, probably to facilitate the release of DNAJC10/ERdj5 from its substrate (By similarity). Acts as a key repressor of the EIF2AK3/PERK and ERN1/IRE1-mediated unfolded protein response (UPR) (PubMed:11907036, PubMed:1550958, PubMed:19538957, PubMed:36739529). In the unstressed endoplasmic reticulum, recruited by DNAJB9/ERdj4 to the luminal region of ERN1/IRE1, leading to disrupt the dimerization of ERN1/IRE1, thereby inactivating ERN1/IRE1 (By similarity). Also binds and inactivates EIF2AK3/PERK in unstressed cells (PubMed:11907036). Accumulation of misfolded protein in the endoplasmic reticulum causes release of HSPA5/BiP from ERN1/IRE1 and EIF2AK3/PERK, allowing their homodimerization and subsequent activation (PubMed:11907036). Plays an auxiliary role in post-translational transport of small presecretory proteins across endoplasmic reticulum (ER). May function as an allosteric modulator for SEC61 channel-forming translocon complex, likely cooperating with SEC62 to enable the productive insertion of these precursors into SEC61 channel. Appears to specifically regulate translocation of precursors having inhibitory residues in their mature region that weaken channel gating. May also play a role in apoptosis and cell proliferation (PubMed:26045166)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Grp78 regulates NLRP3 inflammasome and participates in Sjogren's syndrome., [RefSeq, PubMed]; QRICH1 suppresses pediatric T-cell acute lymphoblastic leukemia by inhibiting GRP78. Publication Status: Online-Only, [RefSeq, PubMed]; Role of the GRP78-c-Src signaling pathway on osteoblast differentiation of periodontal ligament fibroblasts induced by cyclic mechanical stretch., [RefSeq, PubMed]; Targeting PERK and GRP78 in colorectal cancer: Genetic insights and novel therapeutic approaches., [RefSeq, PubMed]; The protein encoded by this gene is a member of the heat shock protein 70 (HSP70) family. This protein localizes to the lumen of the endoplasmic reticulum (ER) where it operates as a typical HSP70 chaperone involved in the folding and assembly of proteins in the ER and is a master regulator of ER homeostasis. During cellular stress, as during viral infection or tumorogenesis, this protein interacts with the transmembrane stress sensor proteins PERK (protein kinase R-like endoplasmic reticulum kinase), IRE1 (inositol-requiring kinase 1), and ATF6 (activating transcription factor 6) where it acts as a repressor of the unfolded protein response (UPR) and also plays a role in cellular apoptosis and senescence. Elevated expression and atypical translocation of this protein to the cell surface has been reported in viral infections and some types of cancer cells. At the cell surface this protein may facilitate viral attachment and entry to host cells. This gene is a therapeutic target for the treatment of coronavirus diseases and chemoresistant cancers. [provided by RefSeq, Jul 2020]., [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": 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": 0, "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": 2, "reported_phosphosites": 7, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 9, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "B0QZ61;Q2EF78;Q9NPF1;Q9UK02", "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": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "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": "2.4.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.99.18", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "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": "1.8.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "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": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "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:0005524 ATP binding;GO:0019899 enzyme binding;GO:0019904 protein domain specific binding;GO:0051082 unfolded protein binding;GO:0051087 protein-folding chaperone binding", "go_cellular_component": "GO:0034663 endoplasmic reticulum chaperone complex;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:1903894 regulation of IRE1-mediated unfolded protein response;GO:0030335 positive regulation of cell migration;GO:0036498 IRE1-mediated unfolded protein response;GO:0043066 negative regulation of apoptotic process;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 34.6, "record_id": "P11021-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100010000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UGK8-1", "uniprot_id": [ { "id": "SRGEF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UGK8", "type": "external" } ], "mass": 48981.0, "length": 458, "protein_name": "Secretion-regulating guanine nucleotide exchange factor", "gene_name": "SERGEF", "organism": "Human", "refseq_name": "secretion-regulating guanine nucleotide exchange factor", "refseq_ac": [ { "id": "NP_036271", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036271", "type": "external" } ], "gene_names_uniprotkb": "SERGEF; DELGEF; GNEFR", "gene_names_refseq": "DELGEF; Gnefr; SERGEF", "protein_names_uniprotkb": "Secretion-regulating guanine nucleotide exchange factor; Deafness locus-associated putative guanine nucleotide exchange factor; DelGEF; Guanine nucleotide exchange factor-related protein", "protein_names_refseq": "deafness locus associated putative guanine nucleotide exchange factor; guanine nucleotide exchange factor-related protein; secretion-regulating guanine nucleotide exchange factor", "tax_id": 9606, "disease": "atherosclerosis (Disease Ontology:DOID:1936)", "pathway": " (hsa:26297)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "10571079;11237011;12459492;17525332;23186163;23301498;23481700;26154972;26992070;27846572;28218747;28832583;28904123;29437277;29557506;30315122;30410026;31154438;31844290;32357974;32897882;32938616;33392160;33912179;35051231;36010968", "class_list": "", "function": "DelGEF binds to the human homologue of Sec5 and modulates secretion., [RefSeq, PubMed]; Probable guanine nucleotide exchange factor (GEF), which may be involved in the secretion process., [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9UGK9", "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_biological_process": "GO:0050709 negative regulation of protein secretion;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9UGK8-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3SXY8-1", "uniprot_id": [ { "id": "AR13B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3SXY8", "type": "external" } ], "mass": 48643.0, "length": 428, "protein_name": "ADP-ribosylation factor-like protein 13B", "gene_name": "ARL13B", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 13B isoform 1", "refseq_ac": [ { "id": "NP_001167621", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167621", "type": "external" } ], "gene_names_uniprotkb": "ARL13B; ARL2L1", "gene_names_refseq": "ARL13B; ARL2L1; JBTS8", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 13B; ADP-ribosylation factor-like protein 2-like 1; ARL2-like protein 1", "protein_names_refseq": "ADP ribosylation factor like GTPase 13B; ADP-ribosylation factor-like 2-like 1; ADP-ribosylation factor-like protein 13B isoform 1; ARL2-like protein 1", "tax_id": 9606, "disease": "Joubert syndrome 8 (Disease Ontology:DOID:0111003)", "pathway": " (hsa:200894); (R-HSA-5624958); (R-HSA-9013406); (R-HSA-9013409); (R-HSA-9613829); (R-HSA-9615710); (R-HSA-9646399)", "pathway_count": 7, "publication_count": 78, "publication_id_list": "10089880;10490598;10491388;10967094;11082038;11185749;11237011;12024216;12242347;12456725;12773384;14675537;15304341;15314642;15546864;15710388;17214551;17785525;17846173;18554500;18644871;18674751;19258391;19668215;19668216;19713215;20068231;20643351;20797626;21068128;21238931;21282471;21454492;2204156;22971344;23029280;23128241;23150559;23223633;23255595;23515720;24120134;24200693;24297911;24339792;24355937;24715725;25138100;25678704;25961502;26118642;26299518;27481945;27846572;2799391;28904123;29493099;29626215;31844290;31871319;32157095;32302585;32897882;33141586;33968037;34171305;35051231;35580925;36907439;37830570;37938771;38219074;7721814;8662539;9038169;9151685;9857026;9864362", "class_list": "", "function": "ARL13B has an evolutionarily conserved role mediating cilia function in multiple organs, [RefSeq, PubMed]; Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze fit; the GTPase activity remains unclear. Required to pattern the neural tube. Involved in cerebral cortex development: required for the initial formation of a polarized radial glial scaffold, the first step in the construction of the cerebral cortex, by regulating ciliary signaling. Regulates the migration and placement of postmitotic interneurons in the developing cerebral cortex. Plays a role in ciliar trafficking of phosphatidylinositol phosphatase INPP5E in ciliogenesis (PubMed:38219074). May regulate ARF6- and RAB22A-dependent endocytic recycling traffic (PubMed:23223633)., [UniProtKB, PubMed, PubMed, PubMed]; Increasing Ciliary ARL13B Expression Drives Active and Inhibitor-Resistant Smoothened and GLI into Glioma Primary Cilia. Publication Status: Online-Only, [RefSeq, PubMed]; Novel compound heterozygous variants in ARL13B lead to Joubert syndrome., [RefSeq, PubMed]; Rab8 and TNPO1 are ciliary transport adaptors for GTPase Arl13b by interacting with its RVEP motif containing ciliary targeting sequence., [RefSeq, PubMed]; These findings suggest that N and C domains of Arl13b cooperatively regulate its ciliary localization and that N domain-dependent self-association of Arl13b may be important for its function in cilia biogenesis., [RefSeq, PubMed]; This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 8, "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": "D3DN29;G3V1S8;Q504W8;Q8TCL5", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0030742 GTP-dependent protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005929 cilium;GO:0031514 motile cilium;GO:0015630 microtubule cytoskeleton;GO:0045171 intercellular bridge", "go_biological_process": "GO:0001822 kidney development;GO:0060271 cilium assembly;GO:0007224 smoothened signaling pathway;GO:0021532 neural tube patterning;GO:0021830 interneuron migration from the subpallium to the cortex", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q3SXY8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NE9-1", "uniprot_id": [ { "id": "FRMD6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NE9", "type": "external" } ], "mass": 72044.0, "length": 622, "protein_name": "FERM domain-containing protein 6", "gene_name": "FRMD6", "organism": "Human", "refseq_name": "FERM domain-containing protein 6 isoform 1", "refseq_ac": [ { "id": "NP_001035946", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035946", "type": "external" } ], "gene_names_uniprotkb": "FRMD6; C14orf31", "gene_names_refseq": "C14orf31; EX1; FRMD6; Willin; c14_5320", "protein_names_uniprotkb": "FERM domain-containing protein 6; Willin", "protein_names_refseq": "4.1 ezrin radixin moesin (FERM)-containing protein; FERM domain-containing protein 6 isoform 1; FERM domain-containing protein 6; expanded homolog", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:122786)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;16137681;18669648;18691976;18991276;21136679;23186163;24275569;24715725;25576301;25645385;25892735;27600516;27846572;28832583;29242379;29393594;29493099;29508533;29557506;29786170;30484775;30779550;30833945;31154438;31222486;31844290;31848261;32157095;32161166;32488085;32502341;32938616;33592498;33968037;33981976;34087483;34171305;34185709;34405274;35051231;35318648;35501594;35580925;36010968;36215666;36241641;36284347;37938771;38385211", "class_list": "", "function": "CircRNA VPRBP inhibits tumorigenicity of cervical cancer via miR-93-5p/FRMD6 axis., [RefSeq, PubMed]; High-tissue FRMD6 expression predicts better outcomes among colorectal cancer patients., [RefSeq, PubMed]; Results describe a new FERM domain-containing protein called Willin., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DSB9;Q5HYF2;Q8N2X1;Q8WUH7", "ec_number_list": [], "go_molecular_function": "GO:0140311 protein sequestering activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0043296 apical junction complex", "go_biological_process": "GO:0035332 positive regulation of hippo signaling", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q96NE9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92993-1", "uniprot_id": [ { "id": "KAT5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92993", "type": "external" } ], "mass": 58582.0, "length": 513, "protein_name": "Histone acetyltransferase KAT5", "gene_name": "KAT5", "organism": "Human", "refseq_name": "histone acetyltransferase KAT5 isoform 4", "refseq_ac": [ { "id": "NP_001193762", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193762", "type": "external" } ], "gene_names_uniprotkb": "KAT5; HTATIP; TIP60", "gene_names_refseq": "ESA1; HTATIP1; HTATIP; KAT5; NEDFASB; PLIP; TIP60; TIP; ZC2HC5; cPLA2", "protein_names_uniprotkb": "Histone acetyltransferase KAT5; 2.3.1.-; 2.3.1.48; 60 kDa Tat-interactive protein; HIV-1 Tat interactive protein; Histone acetyltransferase HTATIP; Lysine acetyltransferase 5; Protein 2-hydroxyisobutyryltransferase KAT5; Protein acetyltransferase KAT5; Protein crotonyltransferase KAT5; Protein lactyltransferase KAT5; Tip60; cPLA(2)-interacting protein", "protein_names_refseq": "60 kDa Tat-interactive protein; HIV-1 Tat interactive protein, 60kDa; K(lysine) acetyltransferase 5; K-acetyltransferase 5; Tat interacting protein, 60kDa; cPLA(2)-interacting protein; cPLA2 interacting protein; histone acetyltransferase HTATIP; histone acetyltransferase KAT5 isoform 4; histone acetyltransferase KAT5; protein 2-hydroxyisobutyryltransferase KAT5; protein acetyltransferase KAT5; protein crotonyltransferase KAT5; protein lactyltransferase KAT5", "tax_id": 9606, "disease": "iron deficiency anemia (Disease Ontology:DOID:11758); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); obesity (Disease Ontology:DOID:9970); neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (MONDO:MONDO:0030852)", "pathway": " (hsa:10524); (R-HSA-201722); (R-HSA-2559586); (R-HSA-3214847); (R-HSA-5685938); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693548); (R-HSA-5693554); (R-HSA-5693565); (R-HSA-5693568); (R-HSA-5693571); (R-HSA-5693579); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-6804756); (R-HSA-69473); (R-HSA-9018519); (R-HSA-9701192); (R-HSA-9704331); (R-HSA-9704646); (R-HSA-9709570); (R-HSA-9709603); (R-HSA-9733709)", "pathway_count": 24, "publication_count": 666, "publication_id_list": 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"class_list": "", "function": "(Microbial infection) Catalyzes the acetylation of flavivirus NS3 protein to modulate their RNA-binding and -unwinding activities leading to facilitate viral replication., [UniProtKB, PubMed]; Catalytic subunit of the NuA4 histone acetyltransferase complex, a multiprotein complex involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H2A and H4 (PubMed:12776177, PubMed:14966270, PubMed:15042092, PubMed:15121871, PubMed:15310756, PubMed:16387653, PubMed:19909775, PubMed:25865756, PubMed:27153538, PubMed:29174981, PubMed:29335245, PubMed:32822602, PubMed:33076429). Histone acetylation alters nucleosome-DNA interactions and promotes interaction of the modified histones with other proteins which positively regulate transcription (PubMed:12776177, PubMed:14966270, PubMed:15042092, PubMed:15121871, PubMed:15310756). The NuA4 histone acetyltransferase complex is required for the activation of transcriptional programs associated with proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair (PubMed:17709392, PubMed:19783983, PubMed:32832608). The NuA4 complex plays a direct role in repair of DNA double-strand breaks (DSBs) by promoting homologous recombination (HR): the complex inhibits TP53BP1 binding to chromatin via MBTD1, which recognizes and binds histone H4 trimethylated at 'Lys-20' (H4K20me), and KAT5 that catalyzes acetylation of 'Lys-15' of histone H2A (H2AK15ac), thereby blocking the ubiquitination mark required for TP53BP1 localization at DNA breaks (PubMed:27153538, PubMed:32832608). Also involved in DSB repair by mediating acetylation of 'Lys-5' of histone H2AX (H2AXK5ac), promoting NBN/NBS1 assembly at the sites of DNA damage (PubMed:17709392, PubMed:26438602). The NuA4 complex plays a key role in hematopoietic stem cell maintenance and is required to maintain acetylated H2A.Z/H2AZ1 at MYC target genes (By similarity). The NuA4 complex is also required for spermatid development by promoting acetylation of histones: histone hyperacetylation is required for histone replacement during the transition from round to elongating spermatids (By similarity). Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AZ1 from the nucleosome (PubMed:24463511). Also acetylates non-histone proteins, such as BMAL1, ATM, AURKB, CHKA, CGAS, ERCC4/XPF, LPIN1, TP53/p53, NDC80/HEC1, NR1D2, RAN, SOX4, FOXP3, SQSTM1, ULK1 and RUBCNL/Pacer (PubMed:16141325, PubMed:17189187, PubMed:17360565, PubMed:17996965, PubMed:24835996, PubMed:26829474, PubMed:29040603, PubMed:30409912, PubMed:30704899, PubMed:31857589, PubMed:32034146, PubMed:32817552, PubMed:34077757). Directly acetylates and activates ATM (PubMed:16141325). Promotes nucleotide excision repair (NER) by mediating acetylation of ERCC4/XPF, thereby promoting formation of the ERCC4-ERCC1 complex (PubMed:32034146). Relieves NR1D2-mediated inhibition of APOC3 expression by acetylating NR1D2 (PubMed:17996965). Acts as a regulator of regulatory T-cells (Treg) by catalyzing FOXP3 acetylation, thereby promoting FOXP3 transcriptional repressor activity (PubMed:17360565, PubMed:24835996). Involved in skeletal myoblast differentiation by mediating acetylation of SOX4 (PubMed:26291311). Catalyzes acetylation of APBB1/FE65, increasing its transcription activator activity (PubMed:33938178). Promotes transcription elongation during the activation phase of the circadian cycle by catalyzing acetylation of BMAL1, promoting elongation of circadian transcripts (By similarity). Together with GSK3 (GSK3A or GSK3B), acts as a regulator of autophagy: phosphorylated at Ser-86 by GSK3 under starvation conditions, leading to activate acetyltransferase activity and promote acetylation of key autophagy regulators, such as ULK1 and RUBCNL/Pacer (PubMed:30704899). Acts as a regulator of the cGAS-STING innate antiviral response by catalyzing acetylation the N-terminus of CGAS, thereby promoting CGAS DNA-binding and activation (PubMed:32817552). Also regulates lipid metabolism by mediating acetylation of CHKA or LPIN1 (PubMed:34077757). Promotes lipolysis of lipid droplets following glucose deprivation by mediating acetylation of isoform 1 of CHKA, thereby promoting monomerization of CHKA and its conversion into a tyrosine-protein kinase (PubMed:34077757). Acts as a regulator of fatty-acid-induced triacylglycerol synthesis by catalyzing acetylation of LPIN1, thereby promoting the synthesis of diacylglycerol (PubMed:29765047). In addition to protein acetyltransferase, can use different acyl-CoA substrates, such as (2E)-butenoyl-CoA (crotonyl-CoA), S-lactoyl-CoA (lactyl-CoA) and 2-hydroxyisobutanoyl-CoA (2-hydroxyisobutyryl-CoA), and is able to mediate protein crotonylation, lactylation and 2-hydroxyisobutyrylation, respectively (PubMed:29192674, PubMed:34608293, PubMed:38961290). Acts as a key regulator of chromosome segregation and kinetochore-microtubule attachment during mitosis by mediating acetylation or crotonylation of target proteins (PubMed:26829474, PubMed:29040603, PubMed:30409912, PubMed:34608293). Catalyzes acetylation of AURKB at kinetochores, increasing AURKB activity and promoting accurate chromosome segregation in mitosis (PubMed:26829474). Acetylates RAN during mitosis, promoting microtubule assembly at mitotic chromosomes (PubMed:29040603). Acetylates NDC80/HEC1 during mitosis, promoting robust kinetochore-microtubule attachment (PubMed:30409912). Catalyzes crotonylation of MAPRE1/EB1, thereby ensuring accurate spindle positioning in mitosis (PubMed:34608293). Catalyzes lactylation of NBN/NBS1 in response to DNA damage, thereby promoting DNA double-strand breaks (DSBs) via homologous recombination (HR) (PubMed:38961290)., [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, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SPIN1 facilitates chemoresistance and HR repair by promoting Tip60 binding to H3K9me3., [RefSeq, PubMed]; TIP60 acetylation of Bub1 regulates centromeric H2AT120 phosphorylation for faithful chromosome segregation., [RefSeq, PubMed]; The Tudor-knot Domain of KAT5 Regulates Nucleosomal Substrate Acetylation., [RefSeq, PubMed]; The protein encoded by this gene belongs to the MYST family of histone acetyl transferases (HATs) and was originally isolated as an HIV-1 TAT-interactive protein. HATs play important roles in regulating chromatin remodeling, transcription and other nuclear processes by acetylating histone and nonhistone proteins. This protein is a histone acetylase that has a role in DNA repair and apoptosis and is thought to play an important role in signal transduction. Alternative splicing of this gene results in multiple transcript variants. [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": 12, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 1, "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": "B4E3C7;C9JL99;O95624;Q13430;Q17RW5;Q561W3;Q6GSE8;Q9BWK7", "ec_number_list": [ { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.1.48", "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": "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": "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": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.4.19.-", "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": "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "5.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.1", "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": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.1.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.22.-", "type": "external" }, { "id": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "2.3.1.259", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.259", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.1.80", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.80", "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:0061733 protein-lysine-acetyltransferase activity;GO:0140065 peptide butyryltransferase activity;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0035267 NuA4 histone acetyltransferase complex", "go_biological_process": "GO:2000042 negative regulation of double-strand break repair via homologous recombination;GO:1901985 positive regulation of protein acetylation;GO:0032703 negative regulation of interleukin-2 production;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 66.7, "record_id": "Q92993-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92542-1", "uniprot_id": [ { "id": "NICA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92542", "type": "external" } ], "mass": 78411.0, "length": 709, "protein_name": "Nicastrin", "gene_name": "NCSTN", "organism": "Human", "refseq_name": "nicastrin isoform 2", "refseq_ac": [ { "id": "NP_001277113", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277113", "type": "external" } ], "gene_names_uniprotkb": "NCSTN; KIAA0253; PRO4317", "gene_names_refseq": "ATAG1874; NCSTN", "protein_names_uniprotkb": "Nicastrin", "protein_names_refseq": "anterior pharynx-defective 2; nicastrin isoform 2", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); urinary bladder cancer (Disease Ontology:DOID:11054); vitiligo (Disease Ontology:DOID:12306); alcohol use disorder (Disease Ontology:DOID:1574); hidradenitis suppurativa (Disease Ontology:DOID:2280); schizophrenia (Disease Ontology:DOID:5419); chronic myeloid leukemia (Disease Ontology:DOID:8552)", "pathway": " (hsa:23385); (R-HSA-1251985); (R-HSA-1474228); (R-HSA-193692); (R-HSA-205043); (R-HSA-2122948); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-2979096); (R-HSA-3928665); (R-HSA-6798695); (R-HSA-9013507); (R-HSA-9013700); (R-HSA-9017802); (R-HSA-977225); (R-HSA-9839383)", "pathway_count": 16, "publication_count": 349, "publication_id_list": "37268159;10.1007/s00018-021-03863-1;10.1101/2023.09.13.557529;10079256;10097139;10206645;10229672;10319874;10386589;10391242;10411933;10551863;10583407;10706100;10713164;10809722;10879540;10882063;10934472;10956649;10958687;10964718;10986281;10993067;11006133;11044625;11171333;11226752;11237011;11278841;11375993;11396676;11401442;11448999;11467836;11518718;11590439;11679632;11740940;11823422;11861489;11872628;118839;12050117;12209127;12354787;12391150;12454989;12530964;12643545;12679784;1270801;12727852;12740439;12754519;12807903;12843241;12843408;12913006;12973357;12975309;14506261;14567678;14567914;14960584;14973287;14980219;15023535;15064394;15107403;15234972;15351694;15533827;15534001;15546612;15569487;15574878;15591058;15652348;15701642;15760269;15824097;15829515;15848800;15958533;15962837;15965470;16061658;16093323;16133547;16174740;16252010;16284625;16303145;1649600;16511561;16530044;16630834;16631740;16738328;16773578;16799559;16825321;16912174;1698775;17003037;17018285;17028573;1707285;17081065;17114293;17332331;17354228;17401372;17425515;17428795;17608959;17646408;17646409;18043734;18065497;18070888;18077452;18237417;18296446;1837051;18374649;1840698;18418349;18434311;18449172;18469519;18484335;1849145;18628966;18653779;18658137;18700817;18713744;18824583;18824585;19000840;19010778;19011241;19047365;19151708;19159218;19208840;19349973;19524514;19567869;19571574;19596786;19640841;19657146;19658395;19714641;19726682;19828817;20142769;20156974;20496116;20676056;20807650;20929727;20972443;21030783;2118650;21297635;21430701;21441952;21495993;21632553;21670566;21784848;21864727;2195544;22065755;22131221;22159414;22162134;22299025;22503002;22658935;22658936;23035980;23090970;23230144;23650620;23813966;23845380;2409350;24190977;24308844;24366607;24715725;24829397;24833601;24842903;24893886;25043039;25125655;25356737;25418920;25502872;25523424;25576301;25645385;25740432;25918421;25996556;26018760;26280335;26417681;26668317;26686862;26776682;26807092;26992070;27090790;27600516;27846572;27920218;279930;28063628;28218747;28228285;28467828;28514659;28832583;28855257;28904123;2900981;29242379;29314611;29393594;29437277;29557506;29632046;29741879;29786170;29856954;29856955;30315122;3035556;30410026;3053705;30573663;30598546;30630874;30779550;30784271;3080684;3094007;31020640;31154438;3142462;31530632;3153318;31611695;31844290;31848261;32119511;32157095;32161166;32162841;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33633747;33912179;33936100;33968037;34019948;34078123;34087483;34089345;34357683;34405274;34433824;34509645;34725712;34860362;34932366;35016821;35051231;35154160;35251023;35254053;35289036;35580925;36010968;36215666;36241641;3675579;37074911;37340703;37490873;37665193;37938771;38665916;40914422;41018975;7075587;7547873;7566092;7588063;803282;8033412;8097946;8114934;8159701;8226919;8313469;8464497;8490014;8626565;8692836;8870004;9006323;9054935;9065415;9115292;9148753;9207787;9207788;9244301;9315665;9384573;9461298;9462510;9590294;9604939;9620803;9651681;9694793;9819428;9852107;9862427", "class_list": "", "function": "A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa., [RefSeq, PubMed]; A novel mutation of the NCSTN gene in a Chinese hidradenitis suppurativa family with familial comedones as the main clinical manifestation., [RefSeq, PubMed]; Discovery and Potential Functional Characterization of Long Noncoding RNAs Associated with Familial Acne Inversa with NCSTN Mutation., [RefSeq, PubMed]; Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:10993067, PubMed:12679784, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Evolutionary distinct roles of gamma-secretase subunit nicastrin in zebrafish and humans., [RefSeq, PubMed]; This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Mutations in this gene are associated with familial acne inversa. A pseudogene of this gene is present on chromosome 21. 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, Feb 2014]., [RefSeq]; We have identified a novel alternatively spliced transcript of nicastrin in human brain tissue, [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": 18, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 13, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 18, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 18, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 55, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 31, "disease_count": 7, "glyco_site_count": 28, "binding_glycan_count": 0, "secondary_ac_list": "Q5T207;Q5T208;Q86VV5", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0051117 ATPase binding;GO:0070851 growth factor receptor binding;GO:0061133 endopeptidase activator activity;GO:0042500 aspartic endopeptidase activity, intramembrane cleaving", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0006509 membrane protein ectodomain proteolysis;GO:0007219 Notch signaling pathway;GO:0007220 Notch receptor processing;GO:0016485 protein processing", "synthesized_glycan_count": 0, "hit_score": 40.8, "record_id": "Q92542-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEC7-1", "uniprot_id": [ { "id": "GSTCD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEC7", "type": "external" } ], "mass": 71079.0, "length": 633, "protein_name": "Glutathione S-transferase C-terminal domain-containing protein", "gene_name": "GSTCD", "organism": "Human", "refseq_name": "glutathione S-transferase C-terminal domain-containing protein isoform 1", "refseq_ac": [ { "id": "NP_001026890", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026890", "type": "external" } ], "gene_names_uniprotkb": "GSTCD", "gene_names_refseq": "GSTCD", "protein_names_uniprotkb": "Glutathione S-transferase C-terminal domain-containing protein", "protein_names_refseq": "glutathione S-transferase C-terminal domain-containing protein isoform 1; glutathione S-transferase C-terminal domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:79807)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;17924679;20010834;20010835;20332099;21965014;23186163;24058608;24915237;25576301;27846572;27920218;28218747;28832583;29242379;29437277;29557506;29786170;30315122;30410026;31370853;31844290;32157095;32387766;32938616;33592498;33717175;33968037;34509645;35051231", "class_list": "", "function": "Air pollution exposure entails an increased risk of acute myocardial infarction, and this risk differed over genotype strata for variants in the GSTP1, GSTT1 and GSTCD genes, albeit not statistically-significantly. Publication Status: Online-Only, [RefSeq, PubMed]; Data show expression of TNS1, GSTCD, AGER, HTR4 and THSD4 in lung tissue and indicate potential targets for interventions to alleviate respiratory disease. GeneRIF: Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; GSTCD polymorphism associated with COPD risk and lung function decline, [RefSeq, PubMed]; In fixed sections of human lung tissue, GSTCD protein expression was ubiquitous, whereas INTS12 expression was predominantly in epithelial cells and pneumocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Hum Mol Genet. 2010 Oct 15;19(20):4121. Hesselbrock, Victor [added]; Tischfield, Jay A [added]], [RefSeq, PubMed]; Targeted knock-down of GSTCD in bronchial epithelial cells identified a role for GSTCD in cell viability. 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": 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": "A8K8J0;A8MVD3;H9KV97;Q9H8S3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q8NEC7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TD10-1", "uniprot_id": [ { "id": "MIPO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TD10", "type": "external" } ], "mass": 51537.0, "length": 442, "protein_name": "Mirror-image polydactyly gene 1 protein", "gene_name": "MIPOL1", "organism": "Human", "refseq_name": "mirror-image polydactyly gene 1 protein isoform 1", "refseq_ac": [ { "id": "NP_001182225", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182225", "type": "external" } ], "gene_names_uniprotkb": "MIPOL1", "gene_names_refseq": "CCDC193; MIPOL1", "protein_names_uniprotkb": "Mirror-image polydactyly gene 1 protein", "protein_names_refseq": "mirror-image polydactyly gene 1 protein isoform 1; mirror-image polydactyly gene 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:145282)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;11954550;18691976;19667180;26515020;26992070;31609475;31844290;32350084;33968037;35580925;36010968", "class_list": "", "function": "Candidate gene for mirror-image polydactyly of hands and feet anomaly. Maps to 14q13., [RefSeq, PubMed]; Functional characterization of a candidate tumor suppressor gene, Mirror Image Polydactyly 1, in nasopharyngeal carcinoma., [RefSeq, PubMed]; Study provides compelling evidence that chromosome 14 harbors tumor suppressor genes associated with NPC and that a candidate gene, MIPOL1, is associated with tumor development., [RefSeq, PubMed]; This gene encodes a coiled-coil domain-containing protein. The encoded protein may function as a tumor suppressor. A translocation that results in truncation of the protein encoded by this locus has been associated with mirror-image polydactyly, also known as Laurin-Sandrow Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2010]., [RefSeq]; To date, at least ten loci and four non-syndromic polydactyly-causing genes, including the GLI3 gene, the ZNF141 gene, the MIPOL1 gene and the PITX1 gene, have been identified. (Review) 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": 1, "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": "D3DSA4;Q7Z3J0;Q8IV14", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8TD10-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86U06-1", "uniprot_id": [ { "id": "RBM23_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86U06", "type": "external" } ], "mass": 48731.0, "length": 439, "protein_name": "Probable RNA-binding protein 23", "gene_name": "RBM23", "organism": "Human", "refseq_name": "probable RNA-binding protein 23 isoform 1", "refseq_ac": [ { "id": "NP_001070819", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070819", "type": "external" } ], "gene_names_uniprotkb": "RBM23; PP239; RNPC4", "gene_names_refseq": "CAPERbeta; PP239; RBM23; RNPC4", "protein_names_uniprotkb": "Probable RNA-binding protein 23; CAPER beta; CAPERbeta; RNA-binding motif protein 23; RNA-binding region-containing protein 4; Splicing factor SF2", "protein_names_refseq": "CAPER beta; RNA-binding region (RNP1, RRM) containing 4; RNA-binding region-containing protein 4; coactivator of activating protein-1 and estrogen recep- tors beta; probable RNA-binding protein 23 isoform 1; probable RNA-binding protein 23; splicing factor SF2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55147)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "11237011;15498874;15694343;17081983;19651622;20112406;21136679;21406692;23186163;23481700;25418920;25505266;25576301;25645385;26154972;26811146;26929215;26992070;27846572;27920218;28063628;28218747;28228285;28411811;28514659;28904123;29242379;29393594;29557506;29632046;30315122;30410026;30524438;31686031;31693891;31819272;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33791378;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;35051231;35580925;36010968;36215666;36241641", "class_list": "", "function": "Aryl-sulfonamides neo-functionalize a shallow, non-conserved pocket on DCAF15 to selectively bind and degrade RBM39 and the closely related splicing factor RBM23 without the requirement for a high-affinity ligand, [RefSeq, PubMed]; RBM23 Drives Hepatocellular Carcinoma by Activating NF-kappaB Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; RNA-binding protein that acts both as a transcription coactivator and pre-mRNA splicing factor (PubMed:15694343). Regulates steroid hormone receptor-mediated transcription, independently of the pre-mRNA splicing factor activity (PubMed:15694343)., [UniProtKB, PubMed]; This gene encodes a member of the U2AF-like family of RNA binding proteins. This protein interacts with some steroid nuclear receptors, localizes to the promoter of a steroid- responsive gene, and increases transcription of steroid-responsive transcriptional reporters in a hormone-dependent manner. It is also implicated in the steroid receptor-dependent regulation of alternative splicing. 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": 2, "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": "D3DS32;Q8ND16;Q8TB88;Q8WY40;Q9BUJ1;Q9NVV7", "ec_number_list": [], "go_molecular_function": "GO:1990446 U1 snRNP binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0016020 membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006397 mRNA processing;GO:0045893 positive regulation of DNA-templated transcription;GO:0008380 RNA splicing;GO:0048024 regulation of mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q86U06-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15796-1", "uniprot_id": [ { "id": "SMAD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15796", "type": "external" } ], "mass": 52306.0, "length": 467, "protein_name": "SMAD family member 2", "gene_name": "SMAD2", "organism": "Human", "refseq_name": "SMAD family member 2 isoform 1", "refseq_ac": [ { "id": "NP_001003652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003652", "type": "external" } ], "gene_names_uniprotkb": "SMAD2; MADH2; MADR2", "gene_names_refseq": "CHTD8; JV18-1; JV18; LDS6; MADH2; MADR2; SMAD2; hMAD-2; hSMAD2", "protein_names_uniprotkb": "SMAD family member 2; JV18-1; MAD homolog 2; Mad-related protein 2; Mothers against DPP homolog 2; Mothers against decapentaplegic homolog 2; SMAD 2; hMAD-2; hSMAD2", "protein_names_refseq": "MAD homolog 2; SMAD family member 2 isoform 1; SMAD, mothers against DPP homolog 2; Sma- and Mad-related protein 2; mother against DPP homolog 2; mothers against decapentaplegic homolog 2", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); Loeys-Dietz syndrome 6 (Disease Ontology:DOID:0060964); endometrial cancer (Disease Ontology:DOID:1380); pancreatic cancer (Disease Ontology:DOID:1793); colon cancer (Disease Ontology:DOID:219); ovarian cancer (Disease Ontology:DOID:2394); breast carcinoma (Disease Ontology:DOID:3459); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); Lynch syndrome (Disease Ontology:DOID:3883); ovarian carcinoma (Disease Ontology:DOID:4001); cervical cancer (Disease Ontology:DOID:4362); renal cell carcinoma (Disease Ontology:DOID:4450); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); congenital heart defects, multiple types, 8, with or without heterotaxy (MONDO:MONDO:0859213)", "pathway": " (hsa:4087); (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-452723); (R-HSA-5689880); (R-HSA-9615017); (R-HSA-9617828); (R-HSA-9754189); (R-HSA-9796292); (R-HSA-9823730)", "pathway_count": 18, "publication_count": 410, "publication_id_list": "10022869;10102273;10197981;10199400;10217147;10358014;10438456;10441331;10444327;10473623;10480625;10485843;10519551;10531062;10535941;10549282;10587642;10587654;10615055;10647776;10708948;10708949;10757800;10822381;10835638;10913147;10934479;10982817;11007770;11013220;11024047;11027280;11100470;11117535;11141505;11158580;11163210;11237011;11274402;11278251;11278756;11294908;11387212;11389444;11389842;11390472;11424093;11427533;11485994;11566882;11779503;11779505;11779849;11879191;11884591;11923872;11964479;12063393;12150994;12151385;12193595;12239572;12446674;12482908;12519765;12592392;12660320;12787505;12917425;12917689;12917691;1333888;14657019;14661020;14688391;14701756;14718519;14978253;15053880;15084259;15087470;15100235;15108323;15110706;15123686;15134444;15150273;15150278;15241418;15277698;15342930;15350224;15458387;15485907;15493035;15496141;15513931;15531507;15564041;15582778;15601644;15625129;15647271;15695770;15743839;15781469;15820681;15860457;15916963;15983365;15988017;16027725;16061177;16140969;16153702;16156666;16200078;16214042;16260601;16278212;16319104;16709598;16751101;16751102;16783365;16840535;16862174;16901786;16959974;16964248;16978057;17068183;17074756;17099224;17204602;17204604;17267691;17272273;17290220;17292623;17327236;17392271;17438144;17443180;17506876;17510063;17567999;17572666;17591695;17592128;17628018;17697703;17873522;17906079;17980597;17981138;18029452;18032924;18035408;18042803;18166170;18172164;18212089;18444242;18467330;18469808;18491316;18550259;18568018;18632802;18636086;18669648;18691976;18729794;18824471;18951876;19015242;19049980;19114992;19115199;19135894;19151334;19188362;19201832;19289081;19363159;19398555;19413330;19415658;19424180;19489980;19522013;19564924;19604364;19651622;19688839;19720988;19755485;19758997;19829295;19838211;19874889;19910467;19914168;19917253;19966271;20027182;20061380;20068231;20096447;20129061;20228808;20368735;20501646;20505756;20505821;20595680;20625381;20659902;20694664;20717921;20837710;20937913;20953172;21095583;21145499;21239494;21245162;21356369;21358634;21362556;21383881;21532621;21536589;21571647;21596315;21599657;21630377;21659512;21741376;21849505;21855631;21924763;21947082;21962518;22029577;22045334;22085928;22128162;22210884;22215994;22216260;22223895;22275377;22327294;22344298;22781750;22880011;22988117;23077590;23139211;23159851;23178592;23186163;23290524;23301498;23395819;23437179;23478445;23486064;23580232;23665959;23824326;23825189;23827706;23827708;23831640;23918930;23934187;23937725;24028821;24040102;24047697;24056413;24260525;24324267;24493797;24627487;24715725;24759784;24896179;25105025;25197364;25305019;25316549;25576301;25578727;25645385;25693565;25843708;25843800;25880248;25921273;25936800;26015544;26057631;26154972;26194464;26247899;26992070;27153775;27547294;27600516;27705785;27846572;28228285;28283438;28400474;28510447;28832583;28834231;28904123;28912531;29234012;29242379;29259896;29331515;29493099;29508533;29557506;29577978;29632711;29967133;30072727;30135653;30157302;30315122;30343527;30356176;30410026;30629940;30805303;31727370;31817988;31840817;31844290;31936902;32157095;32350084;32357974;32387766;32448362;32488085;32502341;32795420;32897882;32938616;32983136;33141586;33298915;33406242;33592498;33676893;33691108;33936100;34509645;34932366;35051231;35318648;35580925;36241641;36284347;39143229;7578059;7693660;7737999;8047140;8196624;8242743;8622651;8673135;8721982;8752209;8774881;8878477;8947046;8980228;9000051;9032295;9136927;9214508;9215638;9233797;9288972;9311995;9335507;9346908;9346966;9389648;9417125;9459292;9503010;9670020;9679059;9702198;9759503;9856985;9865696;9873005;9892009", "class_list": "", "function": "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 SMAD2/SMAD4 complex, activates transcription. Promotes TGFB1-mediated transcription of odontoblastic differentiation genes in dental papilla cells (By similarity). Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator. May act as a tumor suppressor in colorectal carcinoma (PubMed:8752209)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, 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 signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [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": 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "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": 41, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 48, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 15, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0070410 co-SMAD binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;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:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0017015 regulation of transforming growth factor beta receptor signaling pathway;GO:0003140 determination of left/right asymmetry in lateral mesoderm;GO:0048340 paraxial mesoderm morphogenesis;GO:0006351 DNA-templated transcription;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 41.3, "record_id": "Q15796-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQS8-1", "uniprot_id": [ { "id": "FYCO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQS8", "type": "external" } ], "mass": 166983.0, "length": 1478, "protein_name": "FYVE and coiled-coil domain-containing protein 1", "gene_name": "FYCO1", "organism": "Human", "refseq_name": "FYVE and coiled-coil domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_078789", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078789", "type": "external" } ], "gene_names_uniprotkb": "FYCO1; ZFYVE7", "gene_names_refseq": "CATC2; CTRCT18; FYCO1; RUFY3; ZFYVE7", "protein_names_uniprotkb": "FYVE and coiled-coil domain-containing protein 1; Zinc finger FYVE domain-containing protein 7", "protein_names_refseq": "FYVE and coiled-coil domain containing 1; FYVE and coiled-coil domain-containing protein 1 isoform 1; FYVE and coiled-coil domain-containing protein 1; RUN and FYVE domain containing 3; zinc finger FYVE domain-containing protein 7", "tax_id": 9606, "disease": "cataract 18 (Disease Ontology:DOID:0110238)", "pathway": " (hsa:79443)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;11896456;17525332;20068231;20100911;21636066;22223895;23186163;23301498;24089205;24275569;25576301;26758079;27600516;27862975;28832583;28904123;29242379;29557506;29914532;30315122;30429286;30779550;31154438;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32938616;32983136;33091337;33298915;33392160;33592498;33912179;33968037;33981976;34087483;35051231;35580925;36010968;36061348;36241641;36284347;36342046;37217939", "class_list": "", "function": "A Novel Mutation in the FYCO1 Gene Causing Congenital Cataract: Case Study of a Chinese Family. Publication Status: Online-Only, [RefSeq, PubMed]; FYCO1 is involved in lens development and transparency in humans, and mutations in this gene are one of the most common causes of autosomal-recessive congenital cataracts in the Pakistani population., [RefSeq, PubMed]; FYCO1 regulates migration, invasion, and invadopodia formation in HeLa cells through CDC42/N-WASP/Arp2/3 signaling pathway., [RefSeq, PubMed]; Maps to a region of chromosome 3p21.3 which is frequently deleted in tumors., [RefSeq, PubMed]; May mediate microtubule plus end-directed vesicle transport., [UniProtKB, PubMed]; The gene encodes a Rab7 adapter protein that is implicated in the microtubule transport of autophagosomes. The encoded protein contains a RUN domain, a FYVE-type zinc finger domain, and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P), the autophagosome marker LC3, and the kinesin KIF5. Mutations in this gene are associated with inclusion body myositis (IBM) and autosomal recessive congenital cataracts (CATC2). [provided by RefSeq, Aug 2020]., [RefSeq]; We have characterized the LC3-, Rab7-, and phosphatidylinositol-3-phosphate-binding domains in FYCO1 and mapped part of the CC region essential for MT plus end-directed 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7ZKT7;Q3MJE6;Q86T41;Q86TB1;Q8TEF9;Q96IV5;Q9H8P9", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0016020 membrane;GO:0005764 lysosome;GO:0005770 late endosome;GO:0005776 autophagosome", "go_biological_process": "GO:1901098 positive regulation of autophagosome maturation;GO:0072383 plus-end-directed vesicle transport along microtubule", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9BQS8-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17036-1", "uniprot_id": [ { "id": "ZNF3_HUMAN", "url": "https://www.uniprot.org/uniprot/P17036", "type": "external" } ], "mass": 50916.0, "length": 446, "protein_name": "Zinc finger protein 3", "gene_name": "ZNF3", "organism": "Human", "refseq_name": "zinc finger protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001265213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265213", "type": "external" } ], "gene_names_uniprotkb": "ZNF3; KOX25", "gene_names_refseq": "A8-51; HF.12; KOX25; PP838; ZNF3; Zfp113", "protein_names_uniprotkb": "Zinc finger protein 3; Zinc finger protein HF.12; Zinc finger protein HZF3.1; Zinc finger protein KOX25", "protein_names_refseq": "C2-H2 type zinc finger protein; zinc finger protein 3 isoform 2; zinc finger protein HF.12; zinc finger protein HZF3.1; zinc finger protein KOX25", "tax_id": 9606, "disease": "", "pathway": " (hsa:7551); (R-HSA-212436)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;18491316;18691976;1945843;20112406;2163759;2288909;23186163;25418920;25576301;25645385;25772364;25892735;26154972;26811146;26992070;27846572;27920218;28063628;28218747;28228285;28904123;29371260;29393594;29437277;29557506;29632046;29786170;29789417;30315122;30429286;30568303;30779550;31154438;31217245;31844290;31848261;32157095;32265295;32357974;32938616;33141586;33392160;33592498;3380682;33936100;33968037;34185709;34561969;35051231;35318648;35580925;36010968;36215666;36789689;37938771;8183939;8769649;9637681;9653119", "class_list": "", "function": "Involved in cell differentiation and/or proliferation., [UniProtKB]; ZNF3 regulates proliferation, migration and invasion through MMP1 and TWIST in colorectal 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": 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": "D6W5U0;P13683;Q9HBR4;Q9NNX8;Q9NXJ1;Q9UC15;Q9UC16", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0045321 leukocyte activation;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "P17036-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12797-1", "uniprot_id": [ { "id": "ASPH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12797", "type": "external" } ], "mass": 85863.0, "length": 758, "protein_name": "Aspartyl/asparaginyl beta-hydroxylase", "gene_name": "ASPH", "organism": "Human", "refseq_name": "aspartyl/asparaginyl beta-hydroxylase isoform 6", "refseq_ac": [ { "id": "NP_001158222", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158222", "type": "external" } ], "gene_names_uniprotkb": "ASPH; BAH", "gene_names_refseq": "AAH; ASPH; BAH; CASQ2BP1; FDLAB; HAAH; JCTN; junctin", "protein_names_uniprotkb": "Aspartyl/asparaginyl beta-hydroxylase; 1.14.11.16; ASP beta-hydroxylase; Aspartate beta-hydroxylase; Peptide-aspartate beta-dioxygenase", "protein_names_refseq": "A beta H-J-J; ASP beta-hydroxylase; aspartyl/asparaginyl beta-hydroxylase isoform 6; aspartyl/asparaginyl beta-hydroxylase; cardiac junctin; humbug; junctate; peptide-aspartate beta-dioxygenase", "tax_id": 9606, "disease": "chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515); cholangiocarcinoma (Disease Ontology:DOID:4947); facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome (MONDO:MONDO:0011106)", "pathway": " (hsa:444); (R-HSA-2672351); (R-HSA-5578775); (R-HSA-9629569)", "pathway_count": 4, "publication_count": 230, "publication_id_list": "37268159;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10220561;10564087;10642508;10720933;10767180;10767424;10830164;10831588;10913253;10956665;10974562;11007777;11062458;11182090;11237011;11588175;11687798;11734858;11773073;11842292;11904445;11904675;11956057;12119109;12393854;12832055;12907679;12953268;1378441;1379744;14584882;14634667;15010458;15044642;15147738;15174025;15260953;15302852;15302935;15318163;15485681;15504734;15505377;15598648;15676025;15754088;15916532;15919655;16219661;16754674;16813530;16849430;16850186;1693919;17224452;17357072;17381423;17448995;17486119;17699613;17881003;17924679;17947579;18000046;18063579;18310267;18400985;18449189;18508966;1856229;18662336;18724360;18995841;19087304;19153159;19159218;19278978;19307298;19380724;19387438;19574390;19620632;19651622;19751721;19808995;19819225;19953639;20068230;20068231;20388639;20388710;20466723;20525693;20538786;20684070;21040849;21060799;21108950;21527911;21984732;22002868;22210847;2226863;22427649;22586105;22707725;22773952;22851697;22946059;22972900;2298749;23090970;23103944;23112050;2321095;23303181;23362265;23549614;23610579;23616951;24100311;24190977;24275569;2430951;24486019;24550447;24550462;24550463;24768550;2477373;2536303;25502872;25576301;2559024;25629522;25645385;25728928;25813380;25994790;26359375;26562072;27726376;27846572;28071645;28154142;2838329;28645727;28790369;28832583;29393594;29485866;2953725;29557506;29563586;29741879;29786170;29914368;29915238;30429286;30459171;30779550;30833945;31154438;31530632;31611695;31844290;31848261;32157095;32161166;32387766;32488085;32938616;32983136;33214551;33592498;33968037;33981976;34019948;34078123;34171305;34229054;34405274;34509645;34725712;34846842;35051231;35254053;35289036;35580925;36010968;36215666;36241641;36284347;37074911;37132101;37217939;38665916;38788814;39531497;40596516;41018975;6328127;6688526;7588753;7665160;7702581;7795595;7821814;7929371;8041726;8112288;8383669;8533761;8544406;8626462;8798450;8809036;8823296;8918259;9037075;9346285;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Aspartate beta-hydroxylase (ASPH) Accelerates Intrahepatic Cholangiocarcinoma Metastasis via Upregulating SHH Signaling Pathway., [RefSeq, PubMed]; Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort., [RefSeq, PubMed]; Junctate has a role in calcium homeostasis in eukaryotic cells, [RefSeq, PubMed]; Membrane-bound Ca(2+)-sensing protein, which is a structural component of the ER-plasma membrane junctions. Isoform 8 regulates the activity of Ca(+2) released-activated Ca(+2) (CRAC) channels in T-cells., [UniProtKB, PubMed]; Specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins., [UniProtKB, PubMed]; This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]., [RefSeq]; USF1 and USF2 positively regulate the core of P1 promoter od AAH. 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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 10, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 34, "disease_count": 3, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A0MSK8;A6NDF4;A6NHI2;B4DIC9;B4E2K4;B7ZM95;E5RGP5;F5H667;Q6NXR7;Q8TB28;Q9H291;Q9H2C4;Q9NRI0;Q9NRI1;Q9Y4J0", "ec_number_list": [ { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "3.4.21.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.22", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "1.14.11.16", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.16", "type": "external" } ], "go_molecular_function": "GO:0009055 electron transfer activity;GO:0044325 transmembrane transporter binding;GO:0005198 structural molecule activity;GO:0005509 calcium ion binding;GO:0008307 structural constituent of muscle", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0014701 junctional sarcoplasmic reticulum membrane;GO:0034704 calcium channel complex", "go_biological_process": "GO:0006936 muscle contraction;GO:0090316 positive regulation of intracellular protein transport;GO:0051480 regulation of cytosolic calcium ion concentration;GO:0071277 cellular response to calcium ion;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 27.7, "record_id": "Q12797-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZW76-1", "uniprot_id": [ { "id": "ANKS3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZW76", "type": "external" } ], "mass": 72038.0, "length": 656, "protein_name": "Ankyrin repeat and SAM domain-containing protein 3", "gene_name": "ANKS3", "organism": "Human", "refseq_name": "ankyrin repeat and SAM domain-containing protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001229858", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229858", "type": "external" } ], "gene_names_uniprotkb": "ANKS3; KIAA1977", "gene_names_refseq": "ANKS3", "protein_names_uniprotkb": "Ankyrin repeat and SAM domain-containing protein 3", "protein_names_refseq": "ankyrin repeat and SAM domain-containing protein 3 isoform 2; ankyrin repeat and SAM domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:124401)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;16964243;18452278;19651622;23481700;24998259;26188091;26992070;27417436;28904123;29242379;30379171;30429286;31844290;32157095;33141586;33298915;34171305;35051231;35580925;36215666;37217939", "class_list": "", "function": "Consistent with the proposed role of the ANKS3 variant in the pathogenesis of the reported family's phenotype, we show that the mutant RNA failed to rescue the laterality defect in anks3 morphants compared to wild-type RNA. Furthermore, we describe a new mutant anks3 line that also displays laterality defect in the homozygous state, [RefSeq, PubMed]; May be involved in vasopressin signaling in the kidney., [UniProtKB, UniProtKB]; Study finds that ANKS3-SAM polymerizes and ANKS6-SAM can bind to one end of the polymer; study presents crystal structures of both the ANKS3-SAM polymer and the ANKS3-SAM/ANKS6-SAM complex, revealing the molecular details of their association. 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": 13, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DWU4;D3DUE2;Q8TF25", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005929 cilium", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q6ZW76-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUL5-1", "uniprot_id": [ { "id": "SHFL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUL5", "type": "external" } ], "mass": 33110.0, "length": 291, "protein_name": "Shiftless antiviral inhibitor of ribosomal frameshifting protein", "gene_name": "SHFL", "organism": "Human", "refseq_name": "shiftless antiviral inhibitor of ribosomal frameshifting protein isoform 2", "refseq_ac": [ { "id": "NP_001295206", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295206", "type": "external" } ], "gene_names_uniprotkb": "SHFL; C19orf66; FLJ11286; IRAV; RYDEN; SFL", "gene_names_refseq": "C19orf66; IRAV; RyDEN; SFL; SHFL", "protein_names_uniprotkb": "Shiftless antiviral inhibitor of ribosomal frameshifting protein; IRAV; Interferon-regulated antiviral protein; Repressor of yield of DENV protein; RyDEN; SFL; SHFL", "protein_names_refseq": "Repressor of yield of Dengue virus; UPF0515 protein C19orf66; interferon-regulated antiviral protein; repressor of yield of DENV protein; shiftless antiviral inhibitor of ribosomal frameshifting protein isoform 2; shiftless antiviral inhibitor of ribosomal frameshifting protein; shiftless", "tax_id": 9606, "disease": "", "pathway": " (hsa:55337)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;20068231;26735137;27920218;27974568;28228285;28832583;29242379;30682371;30944177;31844290;32150556;32294532;32350084;32387766;32938616;34309824;34561969;35051231;36326276;37293200;37701839;38665916", "class_list": "", "function": "Association of genetic polymorphisms in the C19orf66 gene and biochemical indices of HBV infected individuals in Yunnan. Publication Status: Online-Only, [RefSeq, PubMed]; C19orf66 Inhibits Japanese Encephalitis Virus Replication by Targeting -1 PRF and the NS3 Protein., [RefSeq, PubMed]; Genetic polymorphisms in the C19orf66 gene influenced HIV-1 infection in a Yunnan population. Publication Status: Online-Only, [RefSeq, PubMed]; IRAV is an RNA binding protein and localizes to cytoplasmic processing bodies (P bodies) in uninfected cells, where it interacts with the MOV10 RISC complex RNA helicase, suggesting a role for IRAV in the processing of viral RNA. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibits programmed -1 ribosomal frameshifting (-1PRF) of a variety of mRNAs from viruses, such as HIV1, and cellular genes, such as PEG10. Interacts with the -1PRF signal of target mRNA and translating ribosomes and causes premature translation termination at the frameshifting site (PubMed:30682371). Regulates HIV1 GAG-POL expression by inhibiting -1PRF (PubMed:30682371). Exhibits antiviral activity against dengue virus (DENV) and can inhibit the replication of all DENV serotypes. May block the protein translation of DENV RNA via its association with cellular mRNA-binding proteins and viral RNA. Also interrupts Zika virus replication by promoting viral NS3 degradation via a lysosome-dependent pathway (PubMed:32150556). Can also limit the replication of hepatitis C virus (HCV) by restricting formation of viral replication organelle, West Nile virus (WNV), Chikungunya virus (CHIKV), herpes simplex virus type 1 (HHV-1), herpes virus type 8 (HHV-8) and human adenovirus (PubMed:26735137, PubMed:27974568, PubMed:30944177, PubMed:32294532). Binds nucleic acids with a higher affinity for ssRNA and ssDNA than for dsDNA (PubMed:27974568)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Isoform 4 does not inhibit programmed ribosomal frameshifting (-1PRF). Does not bind to ribosomes., [UniProtKB, PubMed]; Shiftless Restricts Viral Gene Expression and Influences RNA Granule Formation during Kaposi's Sarcoma-Associated Herpesvirus Lytic Replication., [RefSeq, PubMed]; This gene is an interferon stimulated gene (ISG) that inhibits viral replication. The encoded protein binds nucleic acids and inhibits programmed -1 ribosomal frameshifting required for translation by many RNA viruses. Viruses inhibited by the protein include Zika virus, dengue virus and the coronaviruses, SARS-CoV and SARS-CoV2. [provided by RefSeq, Aug 2021]., [RefSeq]; We identified a previously uncharacterized gene, C19orf66, as an IFN-stimulated gene (ISG) that inhibits Dengue virus replication 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": 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": "A8MQT9;Q4G188;Q8IYH6;Q8N8V1", "ec_number_list": [], "go_molecular_function": "GO:1990825 sequence-specific mRNA binding;GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0043022 ribosome binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000932 P-body", "go_biological_process": "GO:0006449 regulation of translational termination;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0045071 negative regulation of viral genome replication;GO:0034341 response to type II interferon", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9NUL5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52926-1", "uniprot_id": [ { "id": "HMGA2_HUMAN", "url": "https://www.uniprot.org/uniprot/P52926", "type": "external" } ], "mass": 11832.0, "length": 109, "protein_name": "High mobility group protein HMGI-C", "gene_name": "HMGA2", "organism": "Human", "refseq_name": "high mobility group protein HMGI-C isoform 3", "refseq_ac": [ { "id": "NP_001317119", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317119", "type": "external" } ], "gene_names_uniprotkb": "HMGA2; HMGIC", "gene_names_refseq": "BABL; HMGA2; HMGI-C; HMGIC; LIPO; SRS5; STQTL9", "protein_names_uniprotkb": "High mobility group protein HMGI-C; High mobility group AT-hook protein 2", "protein_names_refseq": "HMGA2/KRT121P fusion; high mobility group protein HMGI-C isoform 3; high mobility group protein HMGI-C", "tax_id": 9606, "disease": "leiomyoma (Disease Ontology:DOID:127); uterine fibroid (Disease Ontology:DOID:13223); Silver-Russell syndrome (Disease Ontology:DOID:14681); ovarian cancer (Disease Ontology:DOID:2394); lipoma (Disease Ontology:DOID:3315); hamartoma (Disease Ontology:DOID:3462); Silver-Russell syndrome 5 (MONDO:MONDO:0020795)", "pathway": " (hsa:8091); (R-HSA-2559584)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10636877;11066083;11237011;12649198;14645522;15621527;15655109;15882911;16901784;17158953;17242198;17242207;17767157;18452278;18707149;19029251;19413330;19415658;19664994;21406692;21807893;23964094;25809938;28796236;37217939;38708906;38802807;38811851;39032683;39089476;39395807;7501444;7670494;8198613;8824803;9772904;9892177", "class_list": "", "function": "Association of deletion polymorphism rs10573247 in the HMGA2 gene with the risk of breast cancer: bioinformatic and experimental analyses. Publication Status: Online-Only, [RefSeq, PubMed]; Beneath HMGA2 alterations in pleomorphic adenomas: Pathological, immunohistochemical, and molecular insights., [RefSeq, PubMed]; Chromatin modifier Hmga2 promotes adult hematopoietic stem cell function and blood regeneration in stress conditions., [RefSeq, PubMed]; Functions as a transcriptional regulator. Functions in cell cycle regulation through CCNA2. Plays an important role in chromosome condensation during the meiotic G2/M transition of spermatocytes. Plays a role in postnatal myogenesis, is involved in satellite cell activation (By similarity). Positively regulates IGF2 expression through PLAG1 and in a PLAG1-independent manner (PubMed:28796236)., [UniProtKB, UniProtKB, PubMed, PubMed]; HMGA2-mediated glutamine metabolism is required for Cd-induced cell growth and cell migration., [RefSeq, PubMed]; Peculiar nuclear atypia associated with MDM2 gene amplification in carcinoma ex-pleomorphic adenoma harbouring an alteration of HMGA2. Erratum:[Histopathology. 2025 Jul;87(1):164. doi: 10.1111/his.15466. PMID: 40342102], [RefSeq, PubMed]; This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enhancesome. This protein contains structural DNA-binding domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "E7EP85;E7EWA2;Q1M182;Q1M185;Q1M186;Q1M187;Q1M188", "ec_number_list": [], "go_molecular_function": "GO:0051575 5'-deoxyribose-5-phosphate lyase activity;GO:0003680 minor groove of adenine-thymine-rich DNA binding;GO:0008301 DNA binding, bending;GO:0019899 enzyme binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0032993 protein-DNA complex;GO:0000228 nuclear chromosome", "go_biological_process": "GO:2000648 positive regulation of stem cell proliferation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0010628 positive regulation of gene expression;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "P52926-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IY45-1", "uniprot_id": [ { "id": "AMN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IY45", "type": "external" } ], "mass": 28408.0, "length": 258, "protein_name": "Protein AMN1 homolog", "gene_name": "AMN1", "organism": "Human", "refseq_name": "protein AMN1 homolog isoform 1", "refseq_ac": [ { "id": "NP_001106873", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001106873", "type": "external" } ], "gene_names_uniprotkb": "AMN1", "gene_names_refseq": "AMN1", "protein_names_uniprotkb": "Protein AMN1 homolog", "protein_names_refseq": "protein AMN1 homolog isoform 1; protein AMN1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:196394)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;23481700;29786170;30524438;31844290;32357974;32387766;33537174", "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": "B7Z7J3;Q6NVU4;Q86X98", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0019005 SCF ubiquitin ligase complex;GO:0031528 microvillus membrane", "go_biological_process": "GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8IY45-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5W5X9-1", "uniprot_id": [ { "id": "TTC23_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5W5X9", "type": "external" } ], "mass": 50009.0, "length": 447, "protein_name": "Tetratricopeptide repeat protein 23", "gene_name": "TTC23", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 23", "refseq_ac": [ { "id": "NP_001275544", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275544", "type": "external" } ], "gene_names_uniprotkb": "TTC23; HCC8", "gene_names_refseq": "HCC-8; TTC23", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 23; Cervical cancer proto-oncogene 8 protein; HCC-8; TPR repeat protein 23", "protein_names_refseq": "TPR repeat protein 23; cervical cancer proto-oncogene 8 protein; tetratricopeptide repeat protein 23", "tax_id": 9606, "disease": "", "pathway": " (hsa:64927)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;20200953;30429286;31492838;31844290;32157095;32357974;32387766;32938616;33298915;33912179;33968037;34509645;35051231;36241641;39894887", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Participates positively in the ciliary Hedgehog (Hh) signaling., [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": 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": 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": "A8K6M5;Q53HK0;Q96BC9;Q9H8W9;Q9H9S7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium", "go_biological_process": "GO:0045880 positive regulation of smoothened signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q5W5X9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NDC4-1", "uniprot_id": [ { "id": "MORN4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NDC4", "type": "external" } ], "mass": 16236.0, "length": 146, "protein_name": "MORN repeat-containing protein 4", "gene_name": "MORN4", "organism": "Human", "refseq_name": "MORN repeat-containing protein 4", "refseq_ac": [ { "id": "NP_001092301", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092301", "type": "external" } ], "gene_names_uniprotkb": "MORN4; C10orf83", "gene_names_refseq": "C10orf83; MORN4; UTA; bA548K23.4; rtp", "protein_names_uniprotkb": "MORN repeat-containing protein 4; Protein 44050; Retinophilin", "protein_names_refseq": "44050 protein; MORN repeat-containing protein 4; protein 44050; retinophilin homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:118812)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;17285308;25822849;27920218;31844290;33968037;39894887", "class_list": "", "function": "Plays a role in promoting axonal degeneration following neuronal injury by toxic insult or trauma., [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": 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": "Q86Y54", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0042995 cell projection;GO:0032433 filopodium tip;GO:0032426 stereocilium tip;GO:0032420 stereocilium", "go_biological_process": "GO:0048678 response to axon injury", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NDC4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61966-1", "uniprot_id": [ { "id": "AP1S1_HUMAN", "url": "https://www.uniprot.org/uniprot/P61966", "type": "external" } ], "mass": 18733.0, "length": 158, "protein_name": "AP-1 complex subunit sigma-1A", "gene_name": "AP1S1", "organism": "Human", "refseq_name": "AP-1 complex subunit sigma-1A", "refseq_ac": [ { "id": "NP_001274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274", "type": "external" } ], "gene_names_uniprotkb": "AP1S1; AP19; CLAPS1", "gene_names_refseq": "AP19; AP1S1; CLAPS1; EKV3; MEDNIK; SIGMA1A", "protein_names_uniprotkb": "AP-1 complex subunit sigma-1A; Adaptor protein complex AP-1 subunit sigma-1A; Adaptor-related protein complex 1 subunit sigma-1A; Clathrin assembly protein complex 1 sigma-1A small chain; Clathrin coat assembly protein AP19; Golgi adaptor HA1/AP1 adaptin sigma-1A subunit; HA1 19 kDa subunit; Sigma 1a subunit of AP-1 clathrin; Sigma-adaptin 1A; Sigma1A-adaptin", "protein_names_refseq": "AP-1 complex subunit sigma-1A; HA1 19 kDa subunit; adapter-related protein complex 1 sigma-1A subunit; adaptor protein complex AP-1 subunit sigma-1A; adaptor related protein complex 1 sigma 1 subunit; adaptor-related protein complex 1 subunit sigma-1A; clathrin assembly protein complex 1 sigma-1A small chain; clathrin coat assembly protein AP19; clathrin-associated/assembly/adaptor protein, small 1 (19kD); golgi adaptor HA1/AP1 adaptin sigma-1A subunit; sigma1A subunit of AP-1 clathrin adaptor complex; sigma1A-adaptin", "tax_id": 9606, "disease": "MEDNIK syndrome (Disease Ontology:DOID:0060483)", "pathway": " (hsa:1174); (R-HSA-164940); (R-HSA-2132295); (R-HSA-432720); (R-HSA-432722)", "pathway_count": 5, "publication_count": 126, "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;11994746;12078484;12198549;12742663;12748383;14731593;15102850;15569716;15749704;15911768;16155256;16181339;16242130;16548883;16618111;16824007;16867982;17116749;17142755;17283181;18046453;18292509;18691976;19057675;19413330;19559397;1956401;19564404;19651769;20068231;20230749;2040623;20708039;21116285;2121367;21441454;21620353;2190094;23423674;2391366;24275569;25418920;25645385;26929215;27600516;28218747;28228285;28510447;28514659;28832583;29242379;29331515;29437277;29493099;30315122;31154438;31844290;32306098;32387766;32502341;32938616;32983136;33141586;33298915;33592498;33691108;33936100;34357683;34405274;34561969;34932366;35318648;35580925;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": "AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect., [RefSeq, PubMed]; Isolation and description of the rat and mouse genes., [RefSeq, PubMed]; Subunit of clathrin-associated adaptor protein complex 1 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., [UniProtKB, PubMed]; The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]., [RefSeq]; We solved the pathogenetic mechanism of MEDNIK syndrome, demonstrating that AP1S1 regulates intracellular copper machinery mediated by copper-pump proteins Erratum:[Brain. 2013 Oct;136(Pt 10):e256], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R5D8;P82267;Q00382;Q53YA7;Q9BTN4;Q9UDW9", "ec_number_list": [], "go_molecular_function": "GO:0035615 clathrin adaptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005905 clathrin-coated pit", "go_biological_process": "GO:1903232 melanosome assembly;GO:0006886 intracellular protein transport;GO:0009615 response to virus;GO:0006898 receptor-mediated endocytosis;GO:0060155 platelet dense granule organization", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "P61966-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14618-1", "uniprot_id": [ { "id": "KPYM_HUMAN", "url": "https://www.uniprot.org/uniprot/P14618", "type": "external" } ], "mass": 57937.0, "length": 531, "protein_name": "Pyruvate kinase PKM", "gene_name": "PKM", "organism": "Human", "refseq_name": "pyruvate kinase PKM isoform c", "refseq_ac": [ { "id": "NP_001193725", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193725", "type": "external" } ], "gene_names_uniprotkb": "PKM; OIP3; PK2; PK3; PKM2", "gene_names_refseq": "CTHBP; HEL-S-30; OIP3; PK3; PKM2; PKM; TCB; THBP1; p58", "protein_names_uniprotkb": "Pyruvate kinase PKM; 2.7.1.40; 2.7.10.2; 2.7.11.1; CTHBP; Cytosolic thyroid hormone-binding protein; OIP-3; Opa-interacting protein 3; Pyruvate kinase 2/3; Pyruvate kinase muscle isozyme; THBP1; Threonine-protein kinase PKM2; Thyroid hormone-binding protein 1; Tumor M2-PK; Tyrosine-protein kinase PKM2; p58", "protein_names_refseq": "OPA-interacting protein 3; PK, muscle type; cytosolic thyroid hormone-binding protein; epididymis secretory protein Li 30; pyruvate kinase 2/3; pyruvate kinase PKM isoform c; pyruvate kinase PKM; pyruvate kinase isozymes M1/M2; pyruvate kinase muscle isozyme; pyruvate kinase, muscle; threonine-protein kinase PKM2; thyroid hormone-binding protein 1; thyroid hormone-binding protein, cytosolic; tumor M2-PK; tyrosine-protein kinase PKM2", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:5315); (R-HSA-6798695); (R-HSA-9764725)", "pathway_count": 3, "publication_count": 264, "publication_id_list": "10655587;11237011;11912130;12650930;12665801;12700765;14654843;15542832;15592455;15996096;16139798;16408927;16497976;16964243;17016520;17081983;17130829;17287340;17308100;17322306;17525332;18088087;18191611;18212344;18298799;18337815;18337823;18369606;1854723;18669648;18691976;18707149;18767875;19413330;19415658;19608861;19651622;19664994;19664995;19690332;19748539;20058876;20068230;20068231;20230923;20305658;2040271;20418909;20847263;20871592;21081667;21406692;21483450;21620138;21700219;22056988;22140559;22158034;22306293;22901803;23064226;23178880;23186163;23301498;23466526;23530218;23576270;23640882;23650620;23719902;23783831;23814019;23837608;24120661;24129315;24142698;24275569;24715725;25114211;25263439;25412762;25418920;25446258;25502872;25505266;25541689;25576301;25645385;25728771;25840825;25880801;26154972;26212009;26252736;26258887;26758079;26787900;26853435;26959741;26992070;27045080;27080861;27090790;27199445;27323830;27340866;27385486;27452731;27485204;27573352;27600516;27602585;27606486;27846572;27883057;27920218;28063628;2813362;28218747;28228285;28380434;28394882;28414323;28418088;28467828;28489076;28514659;2854097;28657654;28832583;28834231;28855257;28904123;29229835;29242379;29262861;29314611;29317506;29393594;29437277;29440169;29493099;29508533;29557506;29632046;29632711;29729076;29769354;29774024;29786170;29789417;29910687;30009856;30192525;30297868;30315122;30379171;30420690;30487609;30524438;30573663;30626607;30779550;30809301;30833945;30898548;31020640;31217245;31222486;31501520;31530632;31745071;31761564;31844290;31848261;31998317;32054489;32078667;32119511;32157095;32161166;32162841;32268273;32350084;32386023;32387766;32393782;32488085;32502341;32572027;32584597;32719938;32830957;32835834;32879337;32897882;32938616;32983136;33043033;33072590;33091337;33141586;33172955;33214551;33298915;33314660;33324209;33392160;33592498;33608512;33623435;33691108;33717175;33800513;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34211107;34357683;34433824;34509645;34561969;34725712;34932366;35008676;35051231;35054968;35083852;35116410;35138000;35138101;35154160;35251023;35292107;35318648;35526384;35561310;35580925;35851744;35931120;36010968;36215666;36241641;36284347;36581221;37217939;37938771;38632437;38665916;38978246;39121998;39153475;39990658;40307207;40596516;8672555;8692836;9119530;9466265", "class_list": "", "function": "Catalyzes the final rate-limiting step of glycolysis by mediating the transfer of a phosphoryl group from phosphoenolpyruvate (PEP) to ADP, generating ATP (PubMed:15996096, PubMed:1854723, PubMed:20847263). The ratio between the highly active tetrameric form and nearly inactive dimeric form determines whether glucose carbons are channeled to biosynthetic processes or used for glycolytic ATP production (PubMed:15996096, PubMed:1854723, PubMed:20847263). The transition between the 2 forms contributes to the control of glycolysis and is important for tumor cell proliferation and survival (PubMed:15996096, PubMed:1854723, PubMed:20847263)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Deciphering the interaction between PKM2 and the built-in thermodynamic properties of the glycolytic pathway in cancer cells., [RefSeq, PubMed]; Expression and Significance of PKM1 in Acute Myeloid Leukaemia., [RefSeq, PubMed]; Isoform specifically expressed during embryogenesis that has low pyruvate kinase activity by itself and requires allosteric activation by D-fructose 1,6-bisphosphate (FBP) for pyruvate kinase activity (PubMed:18337823, PubMed:20847263). In addition to its pyruvate kinase activity in the cytoplasm, also acts as a regulator of transcription in the nucleus by acting as a protein kinase (PubMed:18191611, PubMed:21620138, PubMed:22056988, PubMed:22306293, PubMed:22901803, PubMed:24120661). Translocates into the nucleus in response to various signals, such as EGF receptor activation, and homodimerizes, leading to its conversion into a protein threonine- and tyrosine-protein kinase (PubMed:22056988, PubMed:22306293, PubMed:22901803, PubMed:24120661, PubMed:26787900). Catalyzes phosphorylation of STAT3 at 'Tyr-705' and histone H3 at 'Thr-11' (H3T11ph), leading to activate transcription (PubMed:22306293, PubMed:22901803, PubMed:24120661). Promotes transcription of VEGFA following translocation to the nucleus along with the NFKB1/p50 and RELA/p65 subunits of the NF-kappa-B transcription factor complex which is triggered by interaction with FOXM1 isoform 5 (FOXM1D) and leads to increased angiogenesis (PubMed:33314660). Its ability to activate transcription plays a role in cancer cells by promoting cell proliferation and promote tumorigenesis (PubMed:18337823, PubMed:22901803, PubMed:26787900). Promotes the expression of the immune checkpoint protein CD274 in BMAL1-deficient macrophages (By similarity). May also act as a translation regulator for a subset of mRNAs, independently of its pyruvate kinase activity: associates with subpools of endoplasmic reticulum-associated ribosomes, binds directly to the mRNAs translated at the endoplasmic reticulum and promotes translation of these endoplasmic reticulum-destined mRNAs (By similarity). Plays a role in caspase independent cell death of tumor cells (PubMed:17308100)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Nuclear PKM2 binds pre-mRNA at folded G-quadruplexes and reveals their gene regulatory role., [RefSeq, PubMed]; Pyruvate kinase isoform expressed in adult tissues, which replaces isoform M2 after birth (PubMed:18337823). In contrast to isoform M2, has high pyruvate kinase activity by itself and does not require allosteric activation by D-fructose 1,6-bisphosphate (FBP) for activity (PubMed:20847263)., [UniProtKB, PubMed, PubMed]; This gene encodes a protein involved in glycolysis. The encoded protein is a pyruvate kinase that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate to ADP, generating ATP and pyruvate. This protein has been shown to interact with thyroid hormone and may mediate cellular metabolic effects induced by thyroid hormones. This protein has been found to bind Opa protein, a bacterial outer membrane protein involved in gonococcal adherence to and invasion of human cells, suggesting a role of this protein in bacterial pathogenesis. Several alternatively spliced transcript variants encoding a few distinct isoforms have been reported. [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": 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": 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": 25, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A6NFK3;B2R5N8;B3KRY0;B4DFX8;B4DUU6;P14786;Q53GK4;Q96E76;Q9BWB5;Q9UCV6;Q9UPF2", "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": "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": "2.7.11.10", "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": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "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": "2.4.2.1", "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": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "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": "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": "2.7.1.40", "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": "3.1.11.-", "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": "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": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "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": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "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": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "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": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "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": "3.1.1.-", "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": "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": "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": "2.7.11.17", "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": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.7.11.38", "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": "3.6.1.6", "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": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "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:0035402 histone H3T11 kinase activity;GO:0000287 magnesium ion binding;GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:2000767 positive regulation of cytoplasmic translation;GO:1903672 positive regulation of sprouting angiogenesis;GO:0032869 cellular response to insulin stimulus;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006096 glycolytic process", "synthesized_glycan_count": 0, "hit_score": 27.3, "record_id": "P14618-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96H20-1", "uniprot_id": [ { "id": "SNF8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96H20", "type": "external" } ], "mass": 28864.0, "length": 258, "protein_name": "Vacuolar-sorting protein SNF8", "gene_name": "SNF8", "organism": "Human", "refseq_name": "vacuolar-sorting protein SNF8 isoform 2", "refseq_ac": [ { "id": "NP_001304121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304121", "type": "external" } ], "gene_names_uniprotkb": "SNF8; EAP30", "gene_names_refseq": "DEE115; Dot3; EAP30; NEDOA; SNF8; VPS22", "protein_names_uniprotkb": "Vacuolar-sorting protein SNF8; ELL-associated protein of 30 kDa; ESCRT-II complex subunit VPS22; hVps22", "protein_names_refseq": "EAP30 subunit of ELL complex; ELL-associated protein of 30 kDa; ESCRT-II complex subunit VPS22; SNF8, ESCRT-II complex subunit, homolog; vacuolar-sorting protein SNF8 isoform 2; vacuolar-sorting protein SNF8", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 115 (Disease Ontology:DOID:0051087); developmental and epileptic encephalopathy (Disease Ontology:DOID:0112202); cancer (Disease Ontology:DOID:162); neurodevelopmental disorder plus optic atrophy (MONDO:MONDO:0968947)", "pathway": " (hsa:11267); (R-HSA-917729); (R-HSA-9610379)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "10419521;11237011;11563910;14505570;14519844;14624836;15075231;15218037;15944288;16260042;16371348;16857164;16973552;17010938;17714434;17959629;18031739;18539118;19640981;20068231;21757351;22645359;22660413;24129315;25469497;25576301;25880248;26154972;26811146;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29769354;29786170;30315122;30410026;30429286;30779550;31154438;31530632;31844290;32157095;32161166;32265295;32387766;32502341;32938616;33141586;33298915;33392160;33592498;33691108;33717175;33968037;33981976;34171305;34509645;35051231;36010968;36241641;37938771;38423010", "class_list": "", "function": "Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy., [RefSeq, PubMed]; Component of the endosomal sorting complex required for transport II (ESCRT-II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs, and plays a role in autophagy (PubMed:38423010). The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation by participating in derepression of transcription by RNA polymerase II, possibly via its interaction with ELL. Required for degradation of both endocytosed EGF and EGFR, but not for the EGFR ligand-mediated internalization. It is also required for the degradation of CXCR4. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a component of the endosomal sorting complex required for transport II (ESCRT-II), which regulates the movement of ubiquitinylated transmembrane proteins to the lysosome for degradation. This complex also interacts with the RNA polymerase II elongation factor (ELL) to overcome the repressive effects of ELL on RNA polymerase II activity. Several transcript variants encoding different isoforms have been found for this gene. [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": 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": "Q8IXY3;Q9UN50", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0008289 lipid binding;GO:0016247 channel regulator activity", "go_cellular_component": "GO:0000814 ESCRT II complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0036258 multivesicular body assembly;GO:0071985 multivesicular body sorting pathway;GO:0043328 protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q96H20-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13428-1", "uniprot_id": [ { "id": "TCOF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13428", "type": "external" } ], "mass": 152106.0, "length": 1488, "protein_name": "Treacle protein", "gene_name": "TCOF1", "organism": "Human", "refseq_name": "treacle protein isoform b", "refseq_ac": [ { "id": "NP_000347", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000347", "type": "external" } ], "gene_names_uniprotkb": "TCOF1", "gene_names_refseq": "MFD1; TCOF1; TCS1; TCS; treacle", "protein_names_uniprotkb": "Treacle protein; Treacher Collins syndrome protein", "protein_names_refseq": "Treacher Collins syndrome protein; Treacher Collins-Franceschetti syndrome 1; nucleolar trafficking phosphoprotein; treacle protein isoform b", "tax_id": 9606, "disease": "Treacher Collins syndrome 1 (Disease Ontology:DOID:0080789); Treacher Collins syndrome (Disease Ontology:DOID:2908)", "pathway": " (hsa:6949)", "pathway_count": 1, "publication_count": 100, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12777385;15019983;15249688;16959974;16964243;17081983;17525332;17924679;18220336;18669648;18691976;19608861;19690332;20068231;21406692;23186163;23301498;23481700;24275569;24714562;24715725;25064736;25114211;25218447;25505266;25576301;25645385;25755297;25772364;26154972;26375851;26399832;26758079;26992070;27655845;27846572;28121444;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29351928;29437277;29493099;29508533;29557506;30315122;30410026;30429286;30484775;30524438;31092671;31217245;31373491;31844290;32119511;32157095;32350084;32357974;32387766;32502341;32522876;32938616;33141586;33214551;33298915;33465208;33592498;33691108;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34725712;35051231;35251023;35318648;35494241;36010968;36241641;37217939;38553547;38665916;39237990;39302247;40596516;40914422;9042910;9074926;9096354", "class_list": "", "function": "Apoptotic metabolites ameliorate bone aging phenotypes via TCOF1/FLVCR1-mediated mitochondrial homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:12777385, PubMed:26399832). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832)., [UniProtKB, PubMed, PubMed]; Results show that treacle is involved in ribosomal DNA gene transcription by interacting with upstream binding factor (UBF)., [RefSeq, PubMed]; The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP). Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]., [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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 22, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 22, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 22, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 61, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 55, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 28, "binding_glycan_count": 0, "secondary_ac_list": "A0JLU0;B4E111;Q6SC72;Q7Z5W9;Q96A52;Q99408;Q99860", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0030674 protein-macromolecule adaptor activity;GO:0046982 protein heterodimerization activity;GO:0097110 scaffold protein binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0001650 fibrillar center", "go_biological_process": "GO:0014029 neural crest formation;GO:0006417 regulation of translation;GO:0001501 skeletal system development;GO:0042254 ribosome biogenesis;GO:0014032 neural crest cell development", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "Q13428-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAU3-1", "uniprot_id": [ { "id": "ZN417_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAU3", "type": "external" } ], "mass": 65733.0, "length": 575, "protein_name": "Zinc finger protein 417", "gene_name": "ZNF417", "organism": "Human", "refseq_name": "zinc finger protein 417 isoform 1", "refseq_ac": [ { "id": "NP_689688", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689688", "type": "external" } ], "gene_names_uniprotkb": "ZNF417", "gene_names_refseq": "ZNF417", "protein_names_uniprotkb": "Zinc finger protein 417", "protein_names_refseq": "zinc finger protein 417 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:147687); (R-HSA-212436)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;27503676;27920218;28218747;28228285;28832583;29242379;29786170;30315122;31154438;31844290;31998317;32387766;32488085;32502341;33392160;8183939;8769649;9637681;9653119", "class_list": "", "function": "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": 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": "B4DEU1", "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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q8TAU3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31269-1", "uniprot_id": [ { "id": "HXA9_HUMAN", "url": "https://www.uniprot.org/uniprot/P31269", "type": "external" } ], "mass": 30172.0, "length": 272, "protein_name": "Homeobox protein Hox-A9", "gene_name": "HOXA9", "organism": "Human", "refseq_name": "homeobox protein Hox-A9", "refseq_ac": [ { "id": "NP_689952", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689952", "type": "external" } ], "gene_names_uniprotkb": "HOXA9; HOX1G", "gene_names_refseq": "ABD-B; HOX1.7; HOX1G; HOX1; HOXA9", "protein_names_uniprotkb": "Homeobox protein Hox-A9; Homeobox protein Hox-1G", "protein_names_refseq": "homeobox protein Hox-1G; homeobox protein Hox-A9; homeodomain protein HOXA9", "tax_id": 9606, "disease": "", "pathway": " (hsa:3205)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;12649177;15657436;22269951;25576301;2574852;28649982;31291378;34163069;36192425;36577137;37217939;38216972;38904676;39462379;40081214;8563753;8563754;9880515", "class_list": "", "function": "HOXA9 and CD163 potentiate pancreatic ductal adenocarcinoma progression. Publication Status: Online-Only, [RefSeq, PubMed]; HOXA9 forms a repressive complex with nuclear matrix-associated protein SAFB to maintain acute myeloid leukemia., [RefSeq, PubMed]; HOXA9 has the hallmarks of a biological switch with implications in blood cancers. Publication Status: Online-Only, [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. This gene is highly similar to the abdominal-B (Abd-B) gene of Drosophila. A specific translocation event which causes a fusion between this gene and the NUP98 gene has been associated with myeloid leukemogenesis. Read-through transcription exists between this gene and the upstream homeobox A10 (HOXA10) gene.[provided by RefSeq, Mar 2011]., [RefSeq]; Pan-cancer exploration of oncogenic and clinical impacts revealed that HOXA9 is a diagnostic indicator of tumorigenesis. Publication Status: Online-Only, [RefSeq, PubMed]; RNA-binding protein RBM5 plays an essential role in acute myeloid leukemia by activating the oncogenic protein HOXA9. Publication Status: Online-Only, [RefSeq, PubMed]; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Required for induction of SELE/E-selectin and VCAM1 on the endothelial cells surface at sites of inflammation (PubMed:22269951). Positively regulates EIF4E-mediated mRNA nuclear export and also increases the translation efficiency of ODC mRNA in the cytoplasm by competing with factors which repress EIF4E activity such as PRH (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": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 13, "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": "O43369;O43429;Q99820", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0019899 enzyme binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO: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:0009952 anterior/posterior pattern specification;GO:0009954 proximal/distal pattern formation;GO:0042118 endothelial cell activation", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "P31269-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P24928-1", "uniprot_id": [ { "id": "RPB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P24928", "type": "external" } ], "mass": 217206.0, "length": 1970, "protein_name": "DNA-directed RNA polymerase II subunit RPB1", "gene_name": "POLR2A", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase II subunit RPB1", "refseq_ac": [ { "id": "NP_000928", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000928", "type": "external" } ], "gene_names_uniprotkb": "POLR2A; POLR2", "gene_names_refseq": "NEDHIB; POLR2A; POLR2; POLRA; RPB1; RPBh1; RPO2; RPOL2; RpIILS; hRPB220; hsRPB1", "protein_names_uniprotkb": "DNA-directed RNA polymerase II subunit RPB1; 2.7.7.48; 2.7.7.6; 3'-5' exoribonuclease; 3.1.13.-; DNA-directed RNA polymerase II subunit A; DNA-directed RNA polymerase III largest subunit; RNA polymerase II subunit B1; RNA-directed RNA polymerase II subunit RPB1", "protein_names_refseq": "3'-5' exoribonuclease; DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit; DNA-directed RNA polymerase II subunit A; DNA-directed RNA polymerase II subunit RPB1; DNA-directed RNA polymerase III largest subunit; RNA polymerase II subunit B1; RNA-directed RNA polymerase II subunit RPB1; polymerase (RNA) II (DNA directed) polypeptide A, 220kDa; polymerase (RNA) II subunit A", "tax_id": 9606, "disease": "Cockayne syndrome (Disease Ontology:DOID:2962); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (MONDO:MONDO:0032829)", "pathway": " (hsa:5430); (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-167238); (R-HSA-167242); (R-HSA-167243); (R-HSA-167246); (R-HSA-167287); (R-HSA-167290); (R-HSA-168325); (R-HSA-203927); (R-HSA-5578749); (R-HSA-5601884); (R-HSA-5617472); (R-HSA-674695); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6796648); (R-HSA-6803529); (R-HSA-6807505); (R-HSA-72086); (R-HSA-72163); (R-HSA-72165); (R-HSA-72203); (R-HSA-73776); (R-HSA-73779); (R-HSA-75953); (R-HSA-75955); (R-HSA-76042); (R-HSA-77075); (R-HSA-8851708); (R-HSA-9018519); (R-HSA-9670095); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 44, "publication_count": 763, "publication_id_list": 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"class_list": "", "function": "(Microbial infection) Acts as an RNA-dependent RNA polymerase when associated with small delta antigen of Hepatitis delta virus, acting both as a replicase and transcriptase for the viral RNA circular genome., [UniProtKB, PubMed]; Catalytic core component of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase which synthesizes mRNA precursors and many functional non-coding RNAs using the four ribonucleoside triphosphates as substrates (By similarity) (PubMed:23748380, PubMed:27193682, PubMed:30190596, PubMed:9852112). Pol II-mediated transcription cycle proceeds through transcription initiation, transcription elongation and transcription termination stages. During transcription initiation, Pol II pre-initiation complex (PIC) is recruited to DNA promoters, with focused-type promoters containing either the initiator (Inr) element, or the TATA-box found in cell-type specific genes and dispersed-type promoters that often contain hypomethylated CpG islands usually found in housekeeping genes. Once the polymerase has escaped from the promoter it enters the elongation phase during which RNA is actively polymerized, based on complementarity with the template DNA strand. Transcription termination involves the release of the RNA transcript and polymerase from the DNA (By similarity) (PubMed:23748380, PubMed:27193682, PubMed:28108474, PubMed:30190596, PubMed:9852112). Forms Pol II active center together with the second largest subunit POLR2B/RPB2. Appends one nucleotide at a time to the 3' end of the nascent RNA, with POLR2A/RPB1 most likely contributing a Mg(2+)-coordinating DxDGD motif, and POLR2B/RPB2 participating in the coordination of a second Mg(2+) ion and providing lysine residues believed to facilitate Watson-Crick base pairing between the incoming nucleotide and template base. Typically, Mg(2+) ions direct a 5' nucleoside triphosphate to form a phosphodiester bond with the 3' hydroxyl of the preceding nucleotide of the nascent RNA, with the elimination of pyrophosphate. The reversible pyrophosphorolysis can occur at high pyrophosphate concentrations (By similarity) (PubMed:30190596, PubMed:8381534, PubMed:9852112). Can proofread the nascent RNA transcript by means of a 3' -> 5' exonuclease activity. If a ribonucleotide is mis-incorporated, backtracks along the template DNA and cleaves the phosphodiester bond releasing the mis-incorporated 5'-ribonucleotide (By similarity) (PubMed:8381534). Through its unique C-terminal domain (CTD, 52 heptapeptide tandem repeats) serves as a platform for assembly of factors that regulate transcription initiation, elongation and termination. CTD phosphorylation on Ser-5 mediates Pol II promoter escape, whereas phosphorylation on Ser-2 is required for Pol II pause release during transcription elongation and further pre-mRNA processing. Additionally, the regulation of gene expression levels depends on the balance between methylation and acetylation levels of the CTD-lysines. Initiation or early elongation steps of transcription of growth-factor-induced immediate early genes are regulated by the acetylation status of the CTD. Methylation and dimethylation have a repressive effect on target genes expression. Cooperates with mRNA splicing machinery in co-transcriptional 5'-end capping and co-transcriptional splicing of pre-mRNA (By similarity) (PubMed:24207025, PubMed:26124092)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates., [UniProtKB, UniProtKB]; ERK-mediated NELF-A phosphorylation promotes transcription elongation of immediate-early genes by releasing promoter-proximal pausing of RNA polymerase II. Publication Status: Online-Only, [RefSeq, PubMed]; HIV-1 Transcriptional Activator Tat Inhibits IL2 Expression by Preventing the Presence of Pol II on the IL2 Promoter. Publication Status: Online-Only, [RefSeq, PubMed]; POLR2A Mutation is a Poor Prognostic Marker of Cerebellopontine Angle Meningioma., [RefSeq, PubMed]; RNA-dependent RNA polymerase that catalyzes the extension of a non-coding RNA (ncRNA) at the 3'-end using the four ribonucleoside triphosphates as substrates. An internal ncRNA sequence near the 3'-end serves as a template in a single-round Pol II-mediated RNA polymerization reaction. May decrease the stability of ncRNAs that repress Pol II-mediated gene transcription., [UniProtKB, UniProtKB, UniProtKB, PubMed]; This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [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": 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": 207, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 52, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "A0AAG2TJB2;A6NN93;B9EH88;Q6NX41", "ec_number_list": [ { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.5.1.-", "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": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "1.14.11.68", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.68", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.1.1.56", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.56", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "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": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "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": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "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": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "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": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "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": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "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": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "2.1.1.348", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.348", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "2.7.7.52", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.52", "type": "external" }, { "id": "3.1.26.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.n2", "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:0003968 RNA-directed RNA polymerase activity;GO:0000287 magnesium ion binding;GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005694 chromosome;GO:0005665 RNA polymerase II, core complex", "go_biological_process": "GO:0033120 positive regulation of RNA splicing;GO:0006355 regulation of DNA-templated transcription;GO:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0006368 transcription elongation by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 77.6, "record_id": "P24928-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NX63-1", "uniprot_id": [ { "id": "MIC19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NX63", "type": "external" } ], "mass": 26152.0, "length": 227, "protein_name": "MICOS complex subunit MIC19", "gene_name": "CHCHD3", "organism": "Human", "refseq_name": "MICOS complex subunit MIC19 isoform 1", "refseq_ac": [ { "id": "NP_001304106", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304106", "type": "external" } ], "gene_names_uniprotkb": "CHCHD3; MIC19; MINOS3", "gene_names_refseq": "CHCHD3; MICOS19; MINOS3; Mic19; PPP1R22", "protein_names_uniprotkb": "MICOS complex subunit MIC19; Coiled-coil-helix-coiled-coil-helix domain-containing protein 3", "protein_names_refseq": "MICOS complex subunit MIC19 isoform 1; MICOS complex subunit MIC19; coiled-coil-helix-coiled-coil-helix domain-containing protein 3, mitochondrial; mitochondrial contact site and cristae organizing system subunit 19; mitochondrial inner membrane organizing system 3; protein phosphatase 1, regulatory subunit 22", "tax_id": 9606, "disease": "hypoplastic left heart syndrome (Disease Ontology:DOID:9955)", "pathway": " (hsa:54927); (R-HSA-1268020); (R-HSA-8949613)", "pathway_count": 3, "publication_count": 130, "publication_id_list": "11237011;14654843;14726512;15254020;15644312;15683237;16185709;16565220;16849325;17121862;17242405;17510655;17624330;17697703;18174896;18212344;18323778;18669648;18678864;18691976;18767875;19007248;19240061;19409522;19453276;19608861;19651622;19664994;19664995;19690332;19691289;19767391;19962426;20068231;20166139;20593814;20833715;21081504;21406692;21750375;21836051;22114354;22228767;22252321;22567091;22864911;23041349;23186163;23481700;23597483;23811401;24098383;24687277;24714562;25255805;25285856;25315652;25418920;25576301;25645385;25764979;25781180;25880248;25892735;25997101;26375851;26416881;26477565;26530328;26697887;26728094;26968360;26992070;27479602;27485409;27600516;27623147;27846572;28228285;28411811;28510447;28514659;28649982;28832583;28834231;28904123;29242379;29314611;29351928;29393594;29508533;29557506;29632046;29632711;29769354;29786170;30429286;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32265295;32350084;32488085;32502341;32567732;32897882;32938616;32983136;33130824;33592498;33691108;33717175;33912179;34087483;34171305;34357683;34509645;35051231;35083852;35251023;35580925;36284347;38665916;40596516", "class_list": "", "function": "ChChd3 is a scaffolding protein that stabilizes protein complexes involved in maintaining crista architecture and protein import and is thus essential for maintaining mitochondrial structure and function., [RefSeq, PubMed]; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane (PubMed:25781180, PubMed:32567732, PubMed:33130824). Plays an important role in the maintenance of the MICOS complex stability and the mitochondrial cristae morphology (PubMed:25781180, PubMed:32567732, PubMed:33130824). Has also been shown to function as a transcription factor which binds to the BAG1 promoter and represses BAG1 transcription (PubMed:22567091)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Mitofilin helps regulate mitochondrial morphology and at least four of the associated proteins (metaxins 1 and 2, SAM50 and CHCHD3) have been implicated in protein import, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption. This protein is part of the mitochondrial contact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0019902 phosphatase binding", "go_cellular_component": "GO:0001401 SAM complex;GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0008053 mitochondrial fusion;GO:0042407 cristae formation;GO:0007007 inner mitochondrial membrane organization", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q9NX63-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBX0-1", "uniprot_id": [ { "id": "HESX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBX0", "type": "external" } ], "mass": 21409.0, "length": 185, "protein_name": "Homeobox expressed in ES cells 1", "gene_name": "HESX1", "organism": "Human", "refseq_name": "homeobox expressed in ES cells 1", "refseq_ac": [ { "id": "NP_003856", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003856", "type": "external" } ], "gene_names_uniprotkb": "HESX1; HANF", "gene_names_refseq": "ANF; CPHD5; HESX1; RPX", "protein_names_uniprotkb": "Homeobox expressed in ES cells 1; Homeobox protein ANF; hAnf", "protein_names_refseq": "Rathke pouch homeobox; Rathke's pouch homeobox; homeobox expressed in ES cells 1; homeobox protein ANF", "tax_id": 9606, "disease": "septooptic dysplasia (Disease Ontology:DOID:0060857); combined pituitary hormone deficiency 2 (Disease Ontology:DOID:0061020); hypopituitarism (Disease Ontology:DOID:9406)", "pathway": " (hsa:8820)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11136712;11237011;11731482;14561704;17148560;19561080;26781211;28734020;33451138;9373136;9620767", "class_list": "", "function": "Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis. Publication Status: Online-Only, [RefSeq, PubMed]; Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII sequence, 5'-AGCTTGAGTCTAATTGAATTAACTGTAC-3'. HESX1 and PROP1 bind as heterodimers on this palindromic site, and, in vitro, HESX1 can antagonize PROP1 activation., [UniProtKB, UniProtKB, PubMed]; Study did not identify HESX1 and LHX3 mutations by Sanger in brazilian patients with combined pituitary hormone deficiency, [RefSeq, PubMed]; This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q52LC5;Q99667", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0042803 protein homodimerization 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_cellular_component": "GO:0005634 nucleus;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:0007420 brain development;GO:0021983 pituitary gland development", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9UBX0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08499-1", "uniprot_id": [ { "id": "PDE4D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08499", "type": "external" } ], "mass": 91115.0, "length": 809, "protein_name": "3',5'-cyclic-AMP phosphodiesterase 4D", "gene_name": "PDE4D", "organism": "Human", "refseq_name": "3',5'-cyclic-AMP phosphodiesterase 4D isoform PDE4D8", "refseq_ac": [ { "id": "NP_001184148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184148", "type": "external" } ], "gene_names_uniprotkb": "PDE4D; DPDE3", "gene_names_refseq": "ACRDYS2; DPDE3; HSPDE4D; PDE43; PDE4DN2; PDE4D; STRK1", "protein_names_uniprotkb": "3',5'-cyclic-AMP phosphodiesterase 4D; 3.1.4.53; DPDE3; PDE43; cAMP-specific phosphodiesterase 4D", "protein_names_refseq": "3',5'-cyclic-AMP phosphodiesterase 4D isoform PDE4D8; 3',5'-cyclic-AMP phosphodiesterase 4D; cAMP-specific 3',5'-cyclic phosphodiesterase 4D; cAMP-specific phosphodiesterase PDE4D6; phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila); testicular tissue protein Li 136", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); acrodysostosis (Disease Ontology:DOID:14669); depressive disorder (Disease Ontology:DOID:1596); transient cerebral ischemia (Disease Ontology:DOID:224); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083)", "pathway": " (hsa:5144); (R-HSA-180024); (R-HSA-418555)", "pathway_count": 3, "publication_count": 128, "publication_id_list": "10022832;10604473;10828059;10913353;11007482;11237011;12036966;12058044;12065642;12106601;12121997;12180353;12193273;12387865;12834813;12842049;12860470;13549488;14500724;14517540;14609333;14668322;14671004;15003452;15131123;1517224;15260978;15576036;15685167;15765929;15769620;15951850;16313925;16539372;16687412;16923326;16973330;17006457;17081983;17168849;17244609;17519386;17535922;17582435;17727341;17900862;18044684;18088087;18577758;19105585;19876791;19929708;20196770;20381629;21036126;21406692;2163110;22424782;22464250;22464252;23033274;23043190;23186163;2417744;24687066;2491850;2553411;2553705;26417854;2871555;28832583;28834231;29242379;29393594;29443750;29493099;29557506;29602314;30192525;30315122;30379171;30779550;30833945;30833991;31092671;31154438;31222486;3127824;31279028;31399091;31530632;31844290;31937595;31983287;32157095;32161166;32226383;32387766;32497535;32540603;32618402;32715661;32938616;33049737;33912179;34171305;35051231;35580925;38272484;38319157;6085243;6087160;6296685;6330098;6501302;8125310;8340388;8413254;8514797;8663227;8672451;8797812;9099992;9263355;9371713;9371714;9417641;9651336", "class_list": "", "function": "Association of the PDE4D gene variant with selected markers in individuals with ischaemic heart disease: a pilot study., [RefSeq, PubMed]; Fine mapping of locus and testing for association with stroke Erratum:[Nat Genet. 2005 May;37(5):555], [RefSeq, PubMed]; GNAS mutation inhibits growth and induces phosphodiesterase 4D expression in colorectal cancer cell lines., [RefSeq, PubMed]; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes., [UniProtKB, PubMed, PubMed, PubMed]; PDE4D5 is upregulated in tracheal smooth muscle cells because of a CRE-containing, isoform-specific promoter, [RefSeq, PubMed]; This gene encodes one of four mammalian counterparts to the fruit fly 'dunce' gene. The encoded protein has 3',5'-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. This gene uses different promoters to generate multiple alternatively spliced transcript variants that encode functional proteins.[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": 7, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 7, "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": "O43433;Q13549;Q13550;Q13551;Q7Z2L8;Q8IV84;Q8IVA9;Q8IVD2;Q8IVD3;Q96HL4;Q9HCX7", "ec_number_list": [ { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.1.4.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.17", "type": "external" }, { "id": "3.1.4.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.53", "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": "3.6.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.25", "type": "external" }, { "id": "3.6.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.14", "type": "external" }, { "id": "3.1.4.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.35", "type": "external" } ], "go_molecular_function": "GO:0031698 beta-2 adrenergic receptor binding;GO:0019899 enzyme binding;GO:0046872 metal ion binding;GO:0051117 ATPase binding;GO:0005246 calcium channel regulator activity", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0032754 positive regulation of interleukin-5 production;GO:0061028 establishment of endothelial barrier;GO:1901898 negative regulation of relaxation of cardiac muscle;GO:0071320 cellular response to cAMP;GO:0050852 T cell receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q08499-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15154-1", "uniprot_id": [ { "id": "PCM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15154", "type": "external" } ], "mass": 228560.0, "length": 2024, "protein_name": "Pericentriolar material 1 protein", "gene_name": "PCM1", "organism": "Human", "refseq_name": "pericentriolar material 1 protein isoform 2", "refseq_ac": [ { "id": "NP_001302436", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001302436", "type": "external" } ], "gene_names_uniprotkb": "PCM1", "gene_names_refseq": "PCM1; PTC4; RET/PCM-1", "protein_names_uniprotkb": "Pericentriolar material 1 protein; PCM-1; hPCM-1", "protein_names_refseq": "PCM-1; hPCM-1; pericentriolar material 1 protein isoform 2; pericentriolar material 1 protein; pericentriolar material 1, PCM1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5108); (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": 165, "publication_id_list": "10.1101/2023.09.13.557529;10980597;11076968;11237011;11956313;12207013;12221128;12364337;12403812;12852856;13678582;14520415;14580337;14654843;15107855;15144186;15184884;15302935;15345747;15498487;15659651;15705883;15805263;16034466;16091753;16270321;16291865;16357211;16424865;16462731;16565220;16769584;16890155;16943179;16964243;17081983;17525332;17574030;17646400;17719545;18037885;18212344;18378770;18452278;18477460;18491316;18521620;18566290;18615013;18669648;18694559;18707149;18767875;18801063;19004860;19007248;19081074;19413330;19608861;19651622;19664994;19664995;19690332;19691289;19940019;20058876;20068231;20166139;20230748;20308558;20399632;20551181;20558667;20719959;21273506;21347367;21406692;21422230;21548880;21565611;21620453;21725307;21792235;21872626;22094468;22179047;22223895;22365832;22433857;22544926;22641346;22653444;23141531;23141541;23186163;23253480;23301498;23348840;23400999;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24121310;24231678;24275569;24469809;24816561;24982133;25047611;25074808;25313408;25532896;26538025;26643951;26755742;26853435;27543614;27600516;27920218;27979967;28218747;28228285;28235840;28510447;28514659;28712572;28832583;28834231;28855257;29242379;29314611;29331515;29393594;29485866;29508533;29632046;29632711;29774024;29786170;29973724;30315122;30429286;30524438;30804208;31789463;32387766;32938750;33402344;34382410;34782749;37074911;37217939;37938771;37963851;39534244;40914422;7769006;7790358;8120099;8838651;9361024", "class_list": "", "function": "LncRNA-ENST00000421645 promotes T cells to secrete IFN-gamma by sponging PCM1 in neurosyphilis., [RefSeq, PubMed]; Required for centrosome assembly and function (PubMed:12403812, PubMed:15659651, PubMed:16943179). Essential for the correct localization of several centrosomal proteins including CEP250, CETN3, PCNT and NEK2 (PubMed:12403812, PubMed:15659651). Required to anchor microtubules to the centrosome (PubMed:12403812, PubMed:15659651). Also involved in cilium biogenesis by recruiting the BBSome, a ciliary protein complex involved in cilium biogenesis, to the centriolar satellites (PubMed:20551181, PubMed:24121310, PubMed:27979967). Recruits the tubulin polyglutamylase complex (TPGC) to centriolar satellites (PubMed:34782749)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome. Chromosomal aberrations involving this gene are associated with papillary thyroid carcinomas and a variety of hematological malignancies, including atypical chronic myeloid leukemia and T-cell lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 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": 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": 1, "reported_phosphosites": 73, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 79, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A6NNN6;B4DYD5;E7ETA6;E7EV56;Q58F13;Q6P1K7;Q8NB85;Q9BWC1;Q9H4A2", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0016020 membrane;GO:0045177 apical part of cell", "go_biological_process": "GO:0090316 positive regulation of intracellular protein transport;GO:0060271 cilium assembly;GO:0007098 centrosome cycle;GO:0035735 intraciliary transport involved in cilium assembly;GO:1905515 non-motile cilium assembly", "synthesized_glycan_count": 0, "hit_score": 17.8, "record_id": "Q15154-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14240-1", "uniprot_id": [ { "id": "IF4A2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14240", "type": "external" } ], "mass": 46402.0, "length": 407, "protein_name": "Eukaryotic initiation factor 4A-II", "gene_name": "EIF4A2", "organism": "Human", "refseq_name": "eukaryotic initiation factor 4A-II", "refseq_ac": [ { "id": "NP_001958", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001958", "type": "external" } ], "gene_names_uniprotkb": "EIF4A2; DDX2B; EIF4F", "gene_names_refseq": "BM-010; DDX2B; EIF4A2; EIF4A; EIF4F; NEDHSS; eIF-4A-II; eIF4A-II", "protein_names_uniprotkb": "Eukaryotic initiation factor 4A-II; 3.6.4.13; ATP-dependent RNA helicase eIF4A-2; eIF-4A-II; eIF4A-II", "protein_names_refseq": "ATP-dependent RNA helicase eIF4A-2; eukaryotic initiation factor 4A-II", "tax_id": 9606, "disease": "medulloblastoma (Disease Ontology:DOID:0050902); stroke (Disease Ontology:DOID:0051061); neurodevelopmental disorder with hypotonia and speech delay (Disease Ontology:DOID:0070512); hypertension (Disease Ontology:DOID:10763); sciatic neuropathy (Disease Ontology:DOID:11446); oligohydramnios (Disease Ontology:DOID:12215); leukemia (Disease Ontology:DOID:1240); cancer (Disease Ontology:DOID:162); pancreatic cancer (Disease Ontology:DOID:1793); prostate adenocarcinoma (Disease Ontology:DOID:2526); Leydig cell tumor (Disease Ontology:DOID:2696); carcinoma (Disease Ontology:DOID:305); breast carcinoma (Disease Ontology:DOID:3459); middle cerebral artery infarction (Disease Ontology:DOID:3525); pulmonary fibrosis (Disease Ontology:DOID:3770); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); craniopharyngioma (Disease Ontology:DOID:3840); brain stem glioma (Disease Ontology:DOID:4202); scimitar syndrome (Disease Ontology:DOID:4297); seminoma (Disease Ontology:DOID:4440); renal cell carcinoma (Disease Ontology:DOID:4450); T-cell acute lymphoblastic leukemia (Disease Ontology:DOID:5603); nephrolithiasis (Disease Ontology:DOID:585); chronic ulcer of skin (Disease Ontology:DOID:8549); myeloid sarcoma (Disease Ontology:DOID:8683); myeloid leukemia (Disease Ontology:DOID:8692); in situ carcinoma (Disease Ontology:DOID:8719); hypereosinophilic syndrome (Disease Ontology:DOID:999)", "pathway": " (hsa:1974); (R-HSA-1169408); (R-HSA-156827); (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": 11, "publication_count": 188, "publication_id_list": "10364207;10637334;10659855;10882133;1095581;11018020;11095724;11112487;11157743;11237011;11283721;11408474;11466336;11788588;11889047;12525615;12582176;12588972;1355481;14567916;14583602;14749774;14978097;15131269;15275975;15475613;15485925;15702989;15715967;16009940;16014927;16112642;16122702;16139798;16141059;16284618;16352599;16407192;16428300;16699525;16715065;16775314;16815975;16872604;16914094;16959974;17052452;17074750;17245413;17289916;17376915;17595167;18287095;18292551;18305167;1856230;18583345;18625844;19073728;19125153;19239894;19270716;19558367;20068231;20112406;20133869;20219937;20308324;20385878;20941364;22424782;23186163;23481700;24714562;24715725;25418920;25469497;25480299;25576301;25645385;26154972;26375851;26728094;26735137;26811146;26929215;26992070;27452731;27600516;27846572;27920218;28063628;28218747;28228285;28446606;28514659;28832583;28834231;28904123;29117567;291969;29242379;29317506;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30484775;30524438;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32502391;32890404;32897882;32938616;32983136;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34405274;34647228;34696522;34932366;35051231;35318648;35561310;35580925;35585045;36010968;36215666;36241641;36284347;36528028;37331603;37485550;37938771;38177122;429297;592398;592399;641056;6853548;7000367;7559393;7935836;8449919;8521730;8943342;9045610;9099687;9525617;9732867;9857202", "class_list": "", "function": "ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon., [UniProtKB]; Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction., [RefSeq, PubMed]; Monitoring RNA restructuring in a human cell-free extract reveals eIF4A-dependent and eIF4A-independent unwinding activity., [RefSeq, PubMed]; RNA helicase., [UniProtKB, UniProtKB, UniProtKB]; Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. Erratum:[Am J Hum Genet. 2023 Mar 2;110(3):548. doi: 10.1016/j.ajhg.2023.02.010. PMID: 36868207], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 28, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DNU9;Q53XJ6;Q96B90;Q96EA8", "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": "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": "3.1.13.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.4", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.3.1", "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": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "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": "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": "2.7.7.52", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.52", "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": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "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:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003743 translation initiation factor activity;GO:0004386 helicase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0016281 eukaryotic translation initiation factor 4F complex", "go_biological_process": "GO:1900260 negative regulation of RNA-dependent RNA polymerase activity;GO:0002183 cytoplasmic translational initiation;GO:0006413 translational initiation;GO:0006446 regulation of translational initiation", "synthesized_glycan_count": 0, "hit_score": 19.1, "record_id": "Q14240-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2K6-1", "uniprot_id": [ { "id": "KLH42_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2K6", "type": "external" } ], "mass": 56868.0, "length": 505, "protein_name": "Kelch-like protein 42", "gene_name": "KLHL42", "organism": "Human", "refseq_name": "kelch-like protein 42", "refseq_ac": [ { "id": "NP_065833", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065833", "type": "external" } ], "gene_names_uniprotkb": "KLHL42; KIAA1340; KLHDC5", "gene_names_refseq": "Ctb9; KLHDC5; KLHL42", "protein_names_uniprotkb": "Kelch-like protein 42; Ctb9; Cullin-3-binding protein 9; Kelch domain-containing protein 5", "protein_names_refseq": "cullin-3-binding protein 9; kelch domain containing 5; kelch domain-containing protein 5; kelch-like protein 42", "tax_id": 9606, "disease": "", "pathway": " (hsa:57542); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 181, "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;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17525332;17785452;18077418;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19261606;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24715725;24793695;24793696;25314029;25349211;25355947;25531226;25892735;26154972;26344709;26460955;26632597;26811146;26906416;26992070;27030794;27222660;27565346;27600516;27846572;27862975;27920218;28115426;28218747;28228285;28832583;28904123;29153394;29242379;29351928;29393594;29437277;29557506;29769354;30315122;30429286;30610225;31154438;31844290;31848261;32005965;32071084;32157095;32265295;32284348;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33444648;33592498;33717175;33912179;33936100;33981976;34171305;34185709;34932366;35051231;35580925;36010968;36241641;36284347;36581221;37938771;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Cul3-deficient cells or Ctb9/KLHDC5-deficient cells show an increase in p60/katanin levels, indicating that Cul3/Ctb9/KLHDC5 is required for efficient p60/katanin removal, [RefSeq, PubMed]; Kelch-like protein 42 is a profibrotic ubiquitin E3 ligase involved in systemic sclerosis., [RefSeq, PubMed]; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL42) E3 ubiquitin ligase complex mediates the ubiquitination and subsequent degradation of KATNA1. Involved in microtubule dynamics throughout mitosis., [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": 2, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q2VPK1;Q8N334", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005819 spindle;GO:0005829 cytosol;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0051301 cell division;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0032886 regulation of microtubule-based process;GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 18.4, "record_id": "Q9P2K6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q32MH5-1", "uniprot_id": [ { "id": "ATOSA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q32MH5", "type": "external" } ], "mass": 121670.0, "length": 1076, "protein_name": "Atos homolog protein A", "gene_name": "ATOSA", "organism": "Human", "refseq_name": "atos homolog protein A isoform 2", "refseq_ac": [ { "id": "NP_001273424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273424", "type": "external" } ], "gene_names_uniprotkb": "ATOSA; FAM214A; KIAA1370", "gene_names_refseq": "ATOSA; FAM214A; KIAA1370", "protein_names_uniprotkb": "Atos homolog protein A", "protein_names_refseq": "atos homolog protein A isoform 2; atos homolog protein A; family with sequence similarity 214 member A; protein FAM214A", "tax_id": 9606, "disease": "", "pathway": " (hsa:56204)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "11237011;22424782;24715725;26811146;26992070;27600516;27846572;27920218;28218747;28411811;28649982;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632046;29632711;30315122;30833945;31154438;31217245;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34405274;34509645;34932366;35051231;35561310;35580925;36010968;36284347", "class_list": "", "function": "Transcription regulator that syncronizes transcriptional and translational programs to promote macrophage invasion of tissues., [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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8KA52;B4DEP5;B4DF40;F5H8G0;Q32MH6;Q4G0R7;Q5XJ16;Q6PDA3;Q9NV24;Q9P2H7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q32MH5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0W9-1", "uniprot_id": [ { "id": "BKGD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0W9", "type": "external" } ], "mass": 35117.0, "length": 315, "protein_name": "Beta-keto L-gulonate decarboxylase", "gene_name": "BKGD", "organism": "Human", "refseq_name": "beta-keto L-gulonate decarboxylase isoform a", "refseq_ac": [ { "id": "NP_001272996", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001272996", "type": "external" } ], "gene_names_uniprotkb": "BKGD; C11orf54; LP4947; PTD012", "gene_names_refseq": "BKGD; C11orf54; MEEP; PTD012; PTOD012", "protein_names_uniprotkb": "Beta-keto L-gulonate decarboxylase; 4.1.1.34; BKGD", "protein_names_refseq": "beta-keto L-gulonate decarboxylase isoform a; epididymis secretory sperm binding protein; ester hydrolase C11orf54", "tax_id": 9606, "disease": "", "pathway": " (hsa:28970)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11230166;11237011;15498874;16522806;25576301;26992070;28834231;28904123;29242379;29314611;29351928;29557506;29769354;30833945;31020640;31530632;31844290;32157095;32161166;32350084;32387766;32983136;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34078123;34171305;34932366;35051231;35251023;35580925;36241641;37277441;40596516;40737316", "class_list": "", "function": "C11orf54 promotes DNA repair via blocking CMA-mediated degradation of HIF1A. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the decarboxylation of 3-dehydro-L-gulonate to produce L-xylulose, used in the pentose pathway (PubMed:40737316). Exhibits ester hydrolase activity on p-nitrophenyl acetate, in vitro (PubMed:16522806). Regulates DNA damage and repair by regulating HIF1A degradation via chaperone-mediated autophagy (CMA) (PubMed:37277441)., [UniProtKB, PubMed, PubMed, PubMed]; Probably non-functional when tested on p-nitrophenyl acetate, in vitro., [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": 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": 2, "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": "A8K850;Q6FI88;Q6XYB0;Q96EI3;Q96IX1;Q9Y6B4", "ec_number_list": [ { "id": "4.1.1.34", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.34", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0016788 hydrolase activity, acting on ester bonds;GO:0047842 dehydro-L-gulonate decarboxylase activity;GO:0016787 hydrolase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006974 DNA damage response;GO:0006282 regulation of DNA repair", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9H0W9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41181-1", "uniprot_id": [ { "id": "AQP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P41181", "type": "external" } ], "mass": 28837.0, "length": 271, "protein_name": "Aquaporin-2", "gene_name": "AQP2", "organism": "Human", "refseq_name": "aquaporin-2", "refseq_ac": [ { "id": "NP_000477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000477", "type": "external" } ], "gene_names_uniprotkb": "AQP2", "gene_names_refseq": "AQP-2; AQP-CD; AQP2; NDI2; WCH-CD", "protein_names_uniprotkb": "Aquaporin-2; ADH water channel; AQP-2; AQP-CD; Aquaporin-CD; Collecting duct water channel protein; WCH-CD; Water channel protein for renal collecting duct", "protein_names_refseq": "ADH water channel; aquaporin 2 (collecting duct); aquaporin-2; aquaporin-CD; collecting duct water channel protein; water channel protein for renal collecting duct; water-channel aquaporin 2", "tax_id": 9606, "disease": "nephrogenic diabetes insipidus type 2 (Disease Ontology:DOID:0081061); hypertension (Disease Ontology:DOID:10763); nephrogenic diabetes insipidus (Disease Ontology:DOID:12387); diabetic ketoacidosis (Disease Ontology:DOID:1837); diabetes insipidus (Disease Ontology:DOID:9409)", "pathway": " (hsa:359); (R-HSA-432040); (R-HSA-432047)", "pathway_count": 3, "publication_count": 138, "publication_id_list": "10510269;10564231;10649434;11001937;11027599;11034202;11076974;11231887;11237011;11532455;11573934;11929850;11952783;11968001;12050236;12084581;12191971;12194985;12801959;12897058;1373524;14514735;14592814;14701836;1510932;1534149;15509592;15703994;15922355;15948717;16120822;16303856;16325777;16361827;16407073;16407156;16596446;16845277;17116290;17138647;17156409;17178220;17374283;17920625;17940053;18202181;18434387;18501347;18511455;18555844;18606813;18678705;18678926;18695390;18762715;18768791;18948439;19144687;19170255;19383790;19570884;19574955;19585583;19590626;19701945;19857466;20147624;20187088;20971851;21251984;22778181;23359558;23559583;24715725;24733887;24829494;24876223;24944815;27801846;28108651;28326667;28381458;28630457;28710278;28931009;29145196;29557506;29650969;29799470;2991279;3049610;3104109;31154438;31888044;32164329;32176498;32486031;32488085;32529500;35051231;36010968;36117171;37674034;38695646;38812639;4065330;7503232;7510718;7522228;7524315;7526388;7530250;7535000;7538665;7678419;8063828;8140421;8584435;8621489;8621513;8683474;8812490;8855281;8882880;9048343;9227644;9302264;9369468;9374639;9374640;9402087;9405233;9550615;9649557;9745427;9756892;9806845;9829975", "class_list": "", "function": "Crystallization of recombinantly expressed human AQP2 into two-dimensional protein-lipid arrays and their structural characterization by atomic force microscopy and electron crystallography, [RefSeq, PubMed]; Diurnal rhythm of urinary aquaporin-2 in children with primary monosymptomatic nocturnal enuresis. Publication Status: Online-Only, [RefSeq, PubMed]; Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient (PubMed:15509592, PubMed:7510718, PubMed:7524315, PubMed:8140421, PubMed:8584435). Plays an essential role in renal water homeostasis (PubMed:15509592, PubMed:7524315, PubMed:8140421). Could also be permeable to glycerol (PubMed:8584435)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Ionic Liquid Gating Induces Anomalous Permeation through Membrane Channel Proteins., [RefSeq, PubMed]; This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_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": 5, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q9UD68", "ec_number_list": [], "go_molecular_function": "GO:0005372 water transmembrane transporter activity;GO:0015168 glycerol transmembrane transporter activity;GO:0015250 water channel activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0003091 renal water homeostasis;GO:0007015 actin filament organization;GO:0051289 protein homotetramerization;GO:0006833 water transport;GO:0015793 glycerol transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "P41181-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000010011001.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21462-1", "uniprot_id": [ { "id": "FPR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P21462", "type": "external" } ], "mass": 38446.0, "length": 350, "protein_name": "N-formyl peptide receptor 1", "gene_name": "FPR1", "organism": "Human", "refseq_name": "N-formyl peptide receptor 1", "refseq_ac": [ { "id": "NP_001180235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180235", "type": "external" } ], "gene_names_uniprotkb": "FPR1", "gene_names_refseq": "FMLP; FPR1; FPR", "protein_names_uniprotkb": "N-formyl peptide receptor 1; N-formylpeptide chemoattractant receptor; fMLP receptor; fMet-Leu-Phe receptor", "protein_names_refseq": "N-formyl peptide receptor 1; N-formylpeptide chemoattractant receptor; fMLP receptor; fMet-Leu-Phe receptor", "tax_id": 9606, "disease": "thrombosis (Disease Ontology:DOID:0060903); alcohol-associated liver disease (Disease Ontology:DOID:0070658); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); Ghosal hematodiaphyseal syndrome (Disease Ontology:DOID:0112251); hypertension (Disease Ontology:DOID:10763); membranous glomerulonephritis (Disease Ontology:DOID:10976); hydronephrosis (Disease Ontology:DOID:11111); arteriosclerosis (Disease Ontology:DOID:2349); glomerulonephritis (Disease Ontology:DOID:2921); brain infarction (Disease Ontology:DOID:3454); cerebral infarction (Disease Ontology:DOID:3526); pulmonary embolism (Disease Ontology:DOID:9477)", "pathway": " (hsa:2357); (R-HSA-418594); (R-HSA-444473); (R-HSA-6783783); (R-HSA-6798695)", "pathway_count": 5, "publication_count": 100, "publication_id_list": "10092818;10415057;10433356;10514456;11007482;11237011;12120503;12554859;12565836;12626585;12832402;1374236;1445895;1460289;15153520;15210802;15919823;15951850;1612600;16634148;16923326;16982608;1712023;18434541;18577758;1940369;1940799;20145033;2161213;2176894;22447027;23650620;24108355;24743777;25109685;2534964;25605714;26516201;2748346;27726376;2834384;29242379;29557506;29786170;30429286;31154438;31534221;32387766;32938616;32983136;33392160;34185709;35051231;35217703;35580925;35878025;36064945;36309087;36750693;36970071;38438091;7510216;7512027;7512451;7516408;7543512;7593617;7594602;7684412;7687627;7836371;7902377;7937899;8015379;8063757;8102388;8120391;8163946;8186324;8224916;8301137;8406495;8537680;8662928;8692836;8734788;8742066;8871669;8897595;8910398;8921438;8946277;9013939;9312047;9354687;9449724;9550426;9794440;9836587;9918218", "class_list": "", "function": "(Microbial infection) Used by Y. pestis as a receptor on human immune cells. Upon infection, Y. pestis releases N-formyl peptides that activate FPR1-mediated immune signaling and chemotaxis. This leads to Y. pestis docking on FPR1 via the lcrV needle cap protein of its type III secretion system (T3SS) followed by the delivery of effector proteins into host immune cells, ultimately triggering immune cell apoptosis., [UniProtKB, PubMed]; Agonist concentration-dependent changes in FPR1 conformation lead to biased signaling for selective activation of phagocyte functions., [RefSeq, PubMed]; Amyloid beta and its naturally occurring N-terminal variants are potent activators of human and mouse formyl peptide receptor 1. Review article, [RefSeq, PubMed]; FPR1: A critical gatekeeper of the heart and brain. Review article, [RefSeq, PubMed]; Formyl peptide receptor 2 is an emerging modulator of inflammation in the liver. Review article, [RefSeq, PubMed]; Pattern recognition G protein-coupled receptor (PRR/GPCR) involved in innate recognition of N-formyl-methionyl peptides derived from invading microbes and host mitochondria as pathogen- and damage-associated molecular patterns (PAMPs and DAMPs). Functions as a sensor of PAMPs and DAMPs released upon microbial infection or tissue damage, triggering immune cell activation and chemotaxis to eliminate pathogens and restore tissue homeostasis (PubMed:24108355, PubMed:25605714, PubMed:35217703, PubMed:36064945). Peptide binding leads to conformational changes coupled to heterotrimeric G(i) protein signaling. Upon GDP to GTP conversion, G(i)-alpha subunit dissociates from G-beta and G-gamma subunits. Free G(i)-alpha subunit inhibits cyclic adenylate cyclase and cAMP synthesis whereas the G-beta and G-gamma dimer activates downstream phospholipase C-beta and phosphoinositide 3-kinase signaling cascades leading to Ca(2+) influx (PubMed:10514456, PubMed:15153520, PubMed:1712023, PubMed:25605714, PubMed:35217703, PubMed:36064945). Displays two affinity states for peptide agonists, low and high, likely accounting for selective signaling of myeloid cell functions at different phases of the inflammatory response. Subnanomolar concentrations of peptide agonists induce myeloid cell chemotaxis, whereas micromolar concentrations trigger degranulation and superoxide production (PubMed:2161213, PubMed:2176894, PubMed:24108355, PubMed:25605714). May recognize a myriad of bacterial signal peptides indicative of an evolutionary conserved detection mechanism in host defense against bacterial infection. Triggers bactericidal functions of neutrophils and phagocytes in response to N-formyl-Met-Leu-Phe (fMLF) which is part of the signal peptide sequences of hundreds distinct bacterial strains (PubMed:25605714). In the homeostatic wound healing response to tissue injury, senses 'necrotaxis' DAMP-type signals released in the form of mitochondria-derived N-formylated peptides and guides neutrophil trafficking toward necrotic cells within the injury site (By similarity). In the context of antitumor immunity, interacts with ANXA1 and guides dendritic cell positioning in close proximity to necrotic tumor cells, allowing for tumor-associated antigen uptake and cross-presentation to T cells (PubMed:24108355, PubMed:26516201). Receptor for TAFA4, mediates its effects on chemoattracting macrophages, promoting phagocytosis and increasing reactive oxygen species (ROS) release (PubMed:25109685). Receptor for cathepsin CTSG, leading to increased phagocyte chemotaxis (PubMed:15210802). Beyond canonical N-terminal formylated peptide agonists, can also be activated by C-terminal amidated peptides, which appear to all share a tripartite structure motif oriented around a carboxyl group (PubMed:24108355, PubMed:25605714). Differential signaling is also defined by receptor oligomerization state. Pro-resolving ligands, such as lipoxin A4 or ANXA1, induce the formation of FPR1:FPR2 heterodimers triggering proapoptotic JNK pathway in neutrophils (PubMed:24108355)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Rs867228 in FPR1 accelerates the manifestation of luminal B breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a G protein-coupled receptor of mammalian phagocytic cells that is a member of the G-protein coupled receptor 1 family. The protein mediates the response of phagocytic cells to invasion of the host by microorganisms and is important in host defense and inflammation.[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": 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": 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": 3, "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": 30, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 12, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q14939;Q7Z6A4;Q86U52;Q9NS48", "ec_number_list": [], "go_molecular_function": "GO:0004875 complement receptor activity;GO:0005124 scavenger receptor binding;GO:0050786 RAGE receptor binding;GO:0004930 G protein-coupled receptor activity;GO:0001664 G protein-coupled receptor binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030667 secretory granule membrane;GO:0101003 ficolin-1-rich granule membrane", "go_biological_process": "GO:0002430 complement receptor mediated signaling pathway;GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "P21462-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41227-1", "uniprot_id": [ { "id": "NAA10_HUMAN", "url": "https://www.uniprot.org/uniprot/P41227", "type": "external" } ], "mass": 26459.0, "length": 235, "protein_name": "N-alpha-acetyltransferase 10", "gene_name": "NAA10", "organism": "Human", "refseq_name": "N-alpha-acetyltransferase 10 isoform 2", "refseq_ac": [ { "id": "NP_001243048", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243048", "type": "external" } ], "gene_names_uniprotkb": "NAA10; ARD1A; ARD1; TE2", "gene_names_refseq": "ARD1A; ARD1P; ARD1; DXS707; LZMS; MAA; MCOPS1; NAA10; NATD; OGDNS; TE2; hARD1", "protein_names_uniprotkb": "N-alpha-acetyltransferase 10; 2.3.1.255; N-terminal acetyltransferase complex ARD1 subunit homolog A; NatA catalytic subunit Naa10; hARD1", "protein_names_refseq": "ARD1 homolog A, N-acetyltransferase; N-acetyltransferase ARD1, human homolog of; N-alpha-acetyltransferase 10 isoform 2; N-terminal acetyltransferase complex ARD1 subunit homolog A; arrest defective protein 1; microphthalmia or anophthalmia and associated anomalies; natA catalytic subunit Naa10", "tax_id": 9606, "disease": "Ogden syndrome (Disease Ontology:DOID:0050781); syndromic microphthalmia (Disease Ontology:DOID:0080636); syndromic microphthalmia 1 (Disease Ontology:DOID:0111799)", "pathway": " (hsa:8260)", "pathway_count": 1, "publication_count": 96, "publication_id_list": "11237011;11393533;12464182;15496142;16507339;16964243;17081983;17322306;18669648;18767875;19413330;19420222;19480662;19651622;19660095;19716809;19826488;20068231;20145209;20154145;20230923;21406692;21700266;21872626;21993680;23186163;23301498;23481700;24275569;24431331;24714562;24715725;25489052;25576301;25732826;25892735;26154972;26375851;26522270;26992070;27422821;27708256;27846572;27862975;29242379;29493099;29557506;29632046;29754825;30154412;30429286;30779550;30833945;31154438;31174490;31217245;31222486;31844290;31848261;32042062;32157095;32161166;32387766;32502341;32897882;32938616;32983136;33091337;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36284347;36581221;37217939;37253389;37938771;37956223;38340582;38665916;40914422;7981673", "class_list": "", "function": "ARD1-mediated acetylation regulates and destabilizes HIF-1 alpha by directly binding to it., [RefSeq, PubMed]; Catalytic subunit of N-terminal acetyltransferase complexes which display alpha (N-terminal) acetyltransferase activity (PubMed:15496142, PubMed:19420222, PubMed:19826488, PubMed:20145209, PubMed:20154145, PubMed:25489052, PubMed:27708256, PubMed:29754825, PubMed:32042062). Acetylates amino termini that are devoid of initiator methionine (PubMed:19420222). The alpha (N-terminal) acetyltransferase activity may be important for vascular, hematopoietic and neuronal growth and development. Without NAA15, displays epsilon (internal) acetyltransferase activity towards HIF1A, thereby promoting its degradation (PubMed:12464182). Represses MYLK kinase activity by acetylation, and thus represses tumor cell migration (PubMed:19826488). Acetylates, and stabilizes TSC2, thereby repressing mTOR activity and suppressing cancer development (PubMed:20145209). Acetylates HSPA1A and HSPA1B at 'Lys-77' which enhances its chaperone activity and leads to preferential binding to co-chaperone HOPX (PubMed:27708256). Acetylates HIST1H4A (PubMed:29754825). Acts as a negative regulator of sister chromatid cohesion during mitosis (PubMed:27422821)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes an N-terminal acetyltransferase that functions as the catalytic subunit of the major amino-terminal acetyltransferase A complex. Mutations in this gene are the cause of Ogden syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]., [RefSeq]; NAA10 gene expression is associated with mesenchymal transition, dedifferentiation, and progression of clear cell renal cell carcinoma., [RefSeq, PubMed]; NAA10 overexpression dictates distinct epigenetic, genetic, and clinicopathological characteristics in adult gliomas., [RefSeq, PubMed]; Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; Studying Long QT Syndrome Caused by NAA10 Genetic Variants Using Patient-Derived Induced Pluripotent Stem 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "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": "A6NM98", "ec_number_list": [ { "id": "2.3.1.255", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.255", "type": "external" } ], "go_molecular_function": "GO:0008080 N-acetyltransferase activity;GO:0004596 protein-N-terminal amino-acid acetyltransferase activity;GO:1990189 protein N-terminal-serine acetyltransferase activity;GO:1990190 protein-N-terminal-glutamate acetyltransferase activity;GO:0008999 protein-N-terminal-alanine acetyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0031415 NatA complex", "go_biological_process": "GO:0051604 protein maturation;GO:2000719 negative regulation of maintenance of mitotic sister chromatid cohesion, centromeric;GO:1904592 positive regulation of protein refolding", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "P41227-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6S5-1", "uniprot_id": [ { "id": "AR6P6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6S5", "type": "external" } ], "mass": 24676.0, "length": 226, "protein_name": "ADP-ribosylation factor-like protein 6-interacting protein 6", "gene_name": "ARL6IP6", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 6-interacting protein 6 isoform a", "refseq_ac": [ { "id": "NP_689735", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689735", "type": "external" } ], "gene_names_uniprotkb": "ARL6IP6; PFAAP1", "gene_names_refseq": "AIP-6; AIP6; ARL6IP6; PFAAP1", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 6-interacting protein 6; ARL-6-interacting protein 6; Aip-6; Phosphonoformate immuno-associated protein 1", "protein_names_refseq": "ADP ribosylation factor like GTPase 6 interacting protein 6; ADP-ribosylation factor GTPase 6 interacting protein 6; ADP-ribosylation factor-like 6 interacting protein 6; ADP-ribosylation factor-like protein 6-interacting protein 6 isoform a; ADP-ribosylation factor-like protein 6-interacting protein 6; ADP-ribosylation-like factor 6 interacting protein 6; ARL-6-interacting protein 6; phosphonoformate immuno-associated protein 1; regulated by phosphonoformate", "tax_id": 9606, "disease": "", "pathway": " (hsa:151188)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;18669648;18691976;19007248;20068231;23186163;24715725;25957586;26992070;27846572;27862975;27920218;28218747;28228285;28832583;28904123;29242379;29437277;30315122;31154438;31217245;31844290;31848261;32157095;32387766;32502341;32938616;32983136;33141586;33936100;33968037;34171305;35051231;35580925;36284347", "class_list": "", "function": "ARL6IP6 as a novel candidate gene for a syndromic form of CMTC., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2RDS6;Q7Z4G7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005637 nuclear inner membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q8N6S5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVJ2-1", "uniprot_id": [ { "id": "NUDC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVJ2", "type": "external" } ], "mass": 17676.0, "length": 157, "protein_name": "NudC domain-containing protein 2", "gene_name": "NUDCD2", "organism": "Human", "refseq_name": "nudC domain-containing protein 2 isoform 1", "refseq_ac": [ { "id": "NP_660309", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660309", "type": "external" } ], "gene_names_uniprotkb": "NUDCD2", "gene_names_refseq": "NUDCD2; NudCL2", "protein_names_uniprotkb": "NudC domain-containing protein 2", "protein_names_refseq": "NudC-like protein 2; nudC domain-containing protein 2 isoform 1; nudC domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:134492)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "10.1101/2023.09.13.557529;11237011;20133715;22661428;23186163;24190977;25505266;28228285;28510447;28904123;29242379;30315122;31217245;31427565;31844290;31848261;32157095;32350084;32387766;32488085;32665550;33214551;33968037;34019948;34087483;35254053;35580925;36284347;37074911;37272762;38665916;38801297;40596516", "class_list": "", "function": "Biallelic variants in NUDCD2 associated with a multiple malformation syndrome with cholestasis and renal failure., [RefSeq, PubMed]; May regulate the LIS1/dynein pathway by stabilizing LIS1 with Hsp90 chaperone., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; NudC-like protein 2 restrains centriole amplification by stabilizing HERC2. Publication Status: Online-Only, [RefSeq, PubMed]; NudCL2 is required for cytokinesis by stabilizing RCC2 with Hsp90 at the midbody., [RefSeq, PubMed]; NudCL2 regulates cell migration by stabilizing both myosin-9 and LIS1 with Hsp90. Erratum:[Cell Death Dis. 2024 Dec 10;15(12):886. doi: 10.1038/s41419-024-07256-7. PMID: 39658555] Publication Status: Online-Only, [RefSeq, PubMed]; NudCL2, a homolog of Aspergillus NudC, which shares significant homology with human NudC and NudCL was identified. It regulates the LIS1/dynein pathway by stabilizing LIS1 with Hsp90 chaperone., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R4V0", "ec_number_list": [], "go_molecular_function": "GO:0051082 unfolded protein binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0015630 microtubule cytoskeleton;GO:0000776 kinetochore", "go_biological_process": "GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q8WVJ2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95985-1", "uniprot_id": [ { "id": "TOP3B_HUMAN", "url": "https://www.uniprot.org/uniprot/O95985", "type": "external" } ], "mass": 96662.0, "length": 862, "protein_name": "DNA topoisomerase 3-beta-1", "gene_name": "TOP3B", "organism": "Human", "refseq_name": "DNA topoisomerase 3-beta-1 isoform 1", "refseq_ac": [ { "id": "NP_001269041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269041", "type": "external" } ], "gene_names_uniprotkb": "TOP3B; TOP3B1", "gene_names_refseq": "TOP3B1; TOP3B", "protein_names_uniprotkb": "DNA topoisomerase 3-beta-1; 5.6.2.1; DNA topoisomerase III beta-1", "protein_names_refseq": "DNA topoisomerase 3-beta-1 isoform 1; DNA topoisomerase 3-beta-1; DNA topoisomerase III beta-1; topoisomerase (DNA) III beta; topoisomerase III beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:8940)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "11237011;11549288;15358519;18477386;20950730;24715725;25576301;25645385;25880248;26375851;26811146;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29786170;29789417;30315122;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33378676;33392160;33592498;33717175;33912179;33968037;34087483;34185709;34932366;35051231;35318648;35580925;35748872;35945419;36010968;36284347;37217939;37938771;9074928;9927731", "class_list": "", "function": "A dual-activity topoisomerase complex regulates mRNA translation and turnover., [RefSeq, PubMed]; DNA and RNA Cleavage Complexes and Repair Pathway for TOP3B RNA- and DNA-Protein Crosslinks., [RefSeq, PubMed]; Introduces a single-strand break via transesterification at a target site in duplex DNA. 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. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; 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-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand. The free DNA strand than undergoes passage around the unbroken strand thus removing DNA supercoils. Finally, in the religation step, the DNA 3'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone (By similarity). Possesses negatively supercoiled DNA relaxing activity., [UniProtKB]; Structural and biochemical basis for DNA and RNA catalysis by human Topoisomerase 3beta. Publication Status: Online-Only, [RefSeq, PubMed]; The positive regulatory region including the 5'GGAACC3' core element is essential for efficient expression of the DNA topoisomerase III beta gene, [RefSeq, PubMed]; 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 relaxing the supercoils and altering the topology of DNA. The enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Low expression of this gene may be related to higher survival rates in breast cancer patients. This gene has a pseudogene on chromosome 22. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]., [RefSeq]; Topoisomerase IIIbeta expression can be a useful marker in assessing the prognosis of patients with breast cancer and is an independent predictor of survival. Erratum:[Hum Pathol. 2012 Apr;43(4):618], [RefSeq, PubMed]; Two isoforms of human DNA topoisomerase IIIbeta were expressed in HeLa cells. Isoform 1 was localized to the nucleus and associated with chromosomes during metaphase and anaphase. Isoform 2 was found in the cytoplasm., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A0M8Q3;Q9BUP5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003917 DNA topoisomerase type I (single strand cut, ATP-independent) activity;GO:0003916 DNA topoisomerase activity;GO:0140226 RNA topoisomerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0000793 condensed chromosome", "go_biological_process": "GO:0006281 DNA repair;GO:0006310 DNA recombination;GO:0006265 DNA topological change", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "O95985-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BPW4-1", "uniprot_id": [ { "id": "APOL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BPW4", "type": "external" } ], "mass": 39164.0, "length": 351, "protein_name": "Apolipoprotein L4", "gene_name": "APOL4", "organism": "Human", "refseq_name": "apolipoprotein L4 isoform 1", "refseq_ac": [ { "id": "NP_085146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085146", "type": "external" } ], "gene_names_uniprotkb": "APOL4", "gene_names_refseq": "APOL-IV; APOL4; APOLIV", "protein_names_uniprotkb": "Apolipoprotein L4; ApoL-IV; Apolipoprotein L-IV", "protein_names_refseq": "apolipoprotein L, 4; apolipoprotein L-IV; apolipoprotein L4 isoform 1", "tax_id": 9606, "disease": "kidney disease (Disease Ontology:DOID:557)", "pathway": " (hsa:80832)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;11290834;11374903;11944986;15949655;18477386;18632255;22898188;25418920;28832583;29242379;29508533;29786170;30524438;31844290;32938616;32983136;34087483;35051231;35580925;37938771", "class_list": "", "function": "APOL4 has been found only in humans and African green monkeys, [RefSeq, PubMed]; An association of APOL1, 2 and 4 with schizophrenia was establised. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver (By similarity)., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the apolipoprotein L family. The encoded protein may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q9BQ37;Q9BXQ8", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006869 lipid transport;GO:0042157 lipoprotein metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q9BPW4-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25101-1", "uniprot_id": [ { "id": "EDNRA_HUMAN", "url": "https://www.uniprot.org/uniprot/P25101", "type": "external" } ], "mass": 48722.0, "length": 427, "protein_name": "Endothelin-1 receptor", "gene_name": "EDNRA", "organism": "Human", "refseq_name": "endothelin-1 receptor isoform b precursor", "refseq_ac": [ { "id": "NP_001159527", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159527", "type": "external" } ], "gene_names_uniprotkb": "EDNRA; ETA; ETRA", "gene_names_refseq": "EDNRA; ET-A; ETA-R; ETAR; ETA; ETRA; MFDA; hET-AR", "protein_names_uniprotkb": "Endothelin-1 receptor; ET-A; ETA-R; Endothelin receptor type A; hET-AR", "protein_names_refseq": "G protein-coupled receptor; endothelin receptor subtype A; endothelin-1 receptor isoform b precursor; endothelin-1-specific receptor", "tax_id": 9606, "disease": "obstructive sleep apnea (Disease Ontology:DOID:0050848); renal fibrosis (Disease Ontology:DOID:0050855); stroke (Disease Ontology:DOID:0051061); mandibulofacial dysostosis with alopecia (Disease Ontology:DOID:0060365); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); nephrotic syndrome (Disease Ontology:DOID:1184); velocardiofacial syndrome (Disease Ontology:DOID:12583); impotence (Disease Ontology:DOID:1875); myocardial infarction (Disease Ontology:DOID:5844); migraine (Disease Ontology:DOID:6364); pulmonary hypertension (Disease Ontology:DOID:6432); lung disease (Disease Ontology:DOID:850); hyperhomocysteinemia (Disease Ontology:DOID:9279); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary emphysema (Disease Ontology:DOID:9675)", "pathway": " (hsa:1909); (R-HSA-375276); (R-HSA-416476)", "pathway_count": 3, "publication_count": 149, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10604470;10727532;10854085;10861009;10899166;11015615;11262386;11322507;11385580;11457843;11562423;11683476;11742120;11753430;11773063;12120503;12427552;12540846;12719537;1280419;1291713;12956774;1314587;1317848;1325670;1326535;1337145;1346068;1415318;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;16182515;16268778;16339447;1652463;1655761;1659806;16754659;16923326;16959974;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18515384;18577758;18936096;1905813;21487064;23446738;23584533;23690594;24715725;24906252;25576301;25772936;2649896;27375076;27496565;2841328;29557506;30429286;30779550;3086311;31844290;3202875;32157095;32387766;33141586;33392160;3366244;34509645;35051231;3525564;35580925;36284347;3856870;38860875;39448657;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8427579;8440682;8463333;8503909;8611157;8615752;8664309;8666380;8702752;873923;8823230;9171878;9284755;9305846;9521323;9530155;9593744;9607765;9685625;9722565;9770463;9792798;9832121;9851594", "class_list": "", "function": "EDNRA affects susceptibility to large artery atherosclerosis stroke through potential inflammatory pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Microarray analysis demonstrates up-regulation of the endothelin-1 gene with compensatory down-regulation of the ETA receptor gene in human portal vein., [RefSeq, PubMed]; Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of binding affinities for ET-A is: ET1 > ET2 >> ET3., [UniProtKB]; This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]., [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 16, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2R723;B4E2V6;B7Z9G6;D3DP03;E7ER36;O43441;Q16432;Q16433;Q8TBH2", "ec_number_list": [], "go_molecular_function": "GO:0004962 endothelin receptor activity;GO:0004435 phosphatidylinositol-4,5-bisphosphate phospholipase C activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0030878 thyroid gland development;GO:1904888 cranial skeletal system development;GO:0048484 enteric nervous system development;GO:0086100 endothelin receptor signaling pathway;GO:0061028 establishment of endothelial barrier", "synthesized_glycan_count": 0, "hit_score": 15.6, "record_id": "P25101-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZJ8-1", "uniprot_id": [ { "id": "GPR61_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZJ8", "type": "external" } ], "mass": 49292.0, "length": 451, "protein_name": "G protein-coupled receptor 61", "gene_name": "GPR61", "organism": "Human", "refseq_name": "G-protein coupled receptor 61", "refseq_ac": [ { "id": "NP_114142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114142", "type": "external" } ], "gene_names_uniprotkb": "GPR61; BALGR; GPCR3", "gene_names_refseq": "BALGR; GPCR3; GPR61", "protein_names_uniprotkb": "G protein-coupled receptor 61; Biogenic amine receptor-like G protein-coupled receptor", "protein_names_refseq": "G-protein coupled receptor 61; biogenic amine receptor-like G-protein coupled receptor; biogenic amine receptor-like GPCR; probable G-protein coupled receptor 61", "tax_id": 9606, "disease": "", "pathway": " (hsa:83873)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11165367;11237011;11690637;12044878;15615699;19025769;28827538;29226084;31848261;33392160;35251023", "class_list": "", "function": "Collectively, these data show that GPR61, GPR62 and GPR135 are unable to bind melatonin, but show a reciprocal regulatory interaction with MT2 receptors. Publication Status: Online-Only, [RefSeq, PubMed]; Maps to chromosome 1, is widely expressed, with expression highest in the brain areas associated with cognition, learning, and memory., [RefSeq, PubMed]; Modeling rationalizes the effects of transmembrane proline mutants previously reported for another family of GPCR., [RefSeq, PubMed]; Orphan G protein-coupled receptor. Constitutively activates the G(s)-alpha/cAMP signaling pathway (PubMed:28827538). Shows a reciprocal regulatory interaction with the melatonin receptor MTNR1B most likely through receptor heteromerization (PubMed:28827538). May be involved in the regulation of food intake and body weight (By similarity)., [UniProtKB, PubMed, UniProtKB]; This gene belongs to the G-protein coupled receptor 1 family. G protein-coupled receptors contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. The protein encoded by this gene is most closely related to biogenic amine receptors. [provided by RefSeq, Jul 2008]., [RefSeq]; We conclude that the N-terminal domain of GPR61 is required for maintaining its constitutive activity and functions as a tethered intramolecular ligand., [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": 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": 1, "reported_glycation": 0, "reported_snv": 9, "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": "A8K1W2;Q6NWS0;Q8TDV4;Q96PR4", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:1990763 arrestin family protein binding", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0010008 endosome membrane", "go_biological_process": "GO:0038035 ligand-independent adenylate cyclase-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9BZJ8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13554-1", "uniprot_id": [ { "id": "KCC2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13554", "type": "external" } ], "mass": 72678.0, "length": 666, "protein_name": "Calcium/calmodulin-dependent protein kinase type II subunit beta", "gene_name": "CAMK2B", "organism": "Human", "refseq_name": "calcium/calmodulin-dependent protein kinase type II subunit beta isoform 1", "refseq_ac": [ { "id": "NP_001211", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001211", "type": "external" } ], "gene_names_uniprotkb": "CAMK2B; CAM2; CAMK2; CAMKB", "gene_names_refseq": "CAM2; CAMK2B; CAMK2; CAMKB; CaMKIIbeta; MRD54", "protein_names_uniprotkb": "Calcium/calmodulin-dependent protein kinase type II subunit beta; 2.7.11.17; CaM kinase II subunit beta; CaMK-II subunit beta", "protein_names_refseq": "CaM kinase II beta subunit; CaM-kinase II beta chain; caMK-II subunit beta; calcium/calmodulin-dependent protein kinase type II subunit beta isoform 1; calcium/calmodulin-dependent protein kinase type II subunit beta; proline rich calmodulin-dependent protein kinase", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 54 (Disease Ontology:DOID:0080230); heart conduction disease (Disease Ontology:DOID:10273)", "pathway": " (hsa:816); (R-HSA-111932); (R-HSA-3371571); (R-HSA-399719); (R-HSA-438066); (R-HSA-442729); (R-HSA-442982); (R-HSA-5576892); (R-HSA-5578775); (R-HSA-5673000); (R-HSA-5673001); (R-HSA-6802946); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-877300); (R-HSA-9022692); (R-HSA-936837); (R-HSA-9609736); (R-HSA-9617324); (R-HSA-9620244); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9918481)", "pathway_count": 23, "publication_count": 365, "publication_id_list": "10067896;10205168;10220561;10373510;10401004;10484781;10508167;10615129;10712905;10767338;10819240;10858498;10869344;10891492;10913253;10986460;11027663;11032810;11062458;11090077;11136978;11237011;11290418;11313946;11325826;11447121;11494123;11546808;11702783;11741534;11747608;11756411;11904675;11972023;12032311;12040185;12068308;12094235;12119109;12121613;12244094;12438563;12446674;12551923;12807427;12815021;12832055;12915721;12932319;12932339;12953268;1309946;1396683;14500339;14506247;14519844;14530258;14565989;14586410;14622581;14707138;14722083;14722222;14762106;15000524;15035987;15084397;1508672;15143187;15174025;15258589;15260953;15270074;15294044;15312654;15322089;15322115;15356145;15388922;1545823;15467451;15530433;15546878;15591024;15598648;15630448;15710605;15711535;15754088;15760475;15831496;15899852;15919184;15925480;16041367;16093354;16182249;16237089;16294014;16364920;16467876;16508002;16537381;1656976;16627759;16630891;16684964;16690701;16700898;16702958;16754674;1693919;17018604;17046689;17097642;17125875;1716764;17216044;17224452;17344846;17357072;17486119;17603482;17603483;17855605;17994015;17997397;17998941;18184654;18294816;18311135;18362138;18562239;18591661;18662992;18723824;18775330;18817731;18974108;1898771;18995841;19049963;19158341;19225110;19278978;19279408;19331822;19345671;19406745;19467855;19541618;19684605;19727074;19751721;19820693;19878721;19920141;19933846;19996366;20049711;20052757;20068231;20130243;20130576;20141835;20179705;20304997;20363976;20388710;20478380;20526349;20674547;20820846;21102635;21108950;21127204;21372320;21424530;21441104;21441910;21514245;21529938;21566136;2160952;21779496;21779497;21779505;21784453;21817159;21911577;21993244;22043453;22054663;22186024;22210847;2226863;22292133;22427649;22510884;22514276;22564745;22569528;22589270;22592532;22707725;22745804;22750304;22768106;22826437;22972900;23061660;23103841;23196729;23301498;23303910;23352452;23360980;23362265;23443682;23453624;23549614;23575685;23583981;23610579;23680146;23770565;23770587;23804213;23863182;23875798;23906342;23993095;24077098;24121058;24121489;24135138;24202393;24211266;24275569;2430951;24345920;24347342;24392018;24417533;24651010;2477373;24897931;24937142;24957944;25204415;25219551;25435214;2559024;25781681;25907612;25965804;25994790;26085527;26092250;26214590;26239616;26343583;27067231;27108190;27264673;27999210;28082416;28218747;28289718;2838329;2842767;28449373;28645727;28657654;28666118;28778966;28904123;28984291;29100089;29393594;29437277;29461827;2953725;29557506;29560374;29902443;30590034;30599162;31135801;31844290;31930741;32357974;32387766;33019657;33177556;33239784;33298915;3417668;34509645;34932366;35051231;35215846;37391113;6148751;6328127;6832622;7510216;7514165;7530745;7542586;7615558;7617032;7626145;7657660;7673114;7690989;7702581;7744815;7796299;7809086;7929371;7935463;7972015;8045293;8052307;8107964;8156998;8176225;8298639;8394845;8455624;8483949;8490646;8490659;8493579;8521512;8521513;8521514;8530158;8550631;8631301;8637718;8665852;8702940;8710374;8798450;8876196;8918259;8939933;8946910;9020159;9060999;9111318;9143706;9147644;9234708;9307043;9346285;9604935;9620804;9648857;9689060;9823899;9858547;9927426", "class_list": "", "function": "CaMKIIbeta in Neuronal Development and Plasticity: An Emerging Candidate in Brain Diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in dendritic spine and synapse formation, neuronal plasticity and regulation of sarcoplasmic reticulum Ca(2+) transport in skeletal muscle (PubMed:16690701). In neurons, plays an essential structural role in the reorganization of the actin cytoskeleton during plasticity by binding and bundling actin filaments in a kinase-independent manner. This structural function is required for correct targeting of CaMK2A, which acts downstream of NMDAR to promote dendritic spine and synapse formation and maintain synaptic plasticity which enables long-term potentiation (LTP) and hippocampus-dependent learning. In developing hippocampal neurons, promotes arborization of the dendritic tree and in mature neurons, promotes dendritic remodeling. Also regulates the migration of developing neurons (PubMed:29100089). Participates in the modulation of skeletal muscle function in response to exercise (PubMed:16690701). In slow-twitch muscles, is involved in regulation of sarcoplasmic reticulum (SR) Ca(2+) transport and in fast-twitch muscle participates in the control of Ca(2+) release from the SR through phosphorylation of triadin, a ryanodine receptor-coupling factor, and phospholamban (PLN/PLB), an endogenous inhibitor of SERCA2A/ATP2A2. In response to interferon-gamma (IFN-gamma) stimulation, catalyzes phosphorylation of STAT1, stimulating the JAK-STAT signaling pathway (By similarity). Phosphorylates reticulophagy regulator RETREG1 at 'Ser-151' under endoplasmic reticulum stress conditions which enhances RETREG1 oligomerization and its membrane scission and reticulophagy activity (PubMed:31930741)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]., [RefSeq]; Understanding the pathogenetic mechanisms underlying altered neuronal function associated with CAMK2B mutations. Review article, [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": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "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": "A4D2K0;A4D2K1;A4D2K2;A4D2K3;A4D2K4;A4D2K5;A4D2K6;O95437;O95438;O95599;Q9UGH7;Q9UGH8;Q9UGH9;Q9UNX0;Q9UNX7;Q9UP00;Q9Y5N4;Q9Y6F4", "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": "7.2.2.10", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.10", "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": "2.7.11.25", "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": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.11.23", "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": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "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": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "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": "2.7.1.107", "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": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "1.14.11.65", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.65", "type": "external" }, { "id": "3.1.31.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.31.1", "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:0003779 actin binding;GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0014069 postsynaptic density", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0010976 positive regulation of neuron projection development;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 37.2, "record_id": "Q13554-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAQ2-1", "uniprot_id": [ { "id": "KIF9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAQ2", "type": "external" } ], "mass": 89986.0, "length": 790, "protein_name": "Kinesin-like protein KIF9", "gene_name": "KIF9", "organism": "Human", "refseq_name": "kinesin-like protein KIF9 isoform 2", "refseq_ac": [ { "id": "NP_001128350", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128350", "type": "external" } ], "gene_names_uniprotkb": "KIF9", "gene_names_refseq": "KIF9", "protein_names_uniprotkb": "Kinesin-like protein KIF9", "protein_names_refseq": "kinesin protein 9; kinesin-like protein KIF9 isoform 2; kinesin-like protein KIF9", "tax_id": 9606, "disease": "", "pathway": " (hsa:64147); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 3, "publication_count": 118, "publication_id_list": "10052452;10318838;10445031;10559959;10761932;10921873;11172815;11237011;11493604;11689559;11703931;11726511;11739780;11748249;11782313;12047556;12070132;12368902;1406973;14504276;14654841;15029241;15037235;15272311;15326200;15616190;15632110;15813748;16030262;1607388;16262723;1631136;16571679;16633337;1680566;16912714;16926190;16940185;17113389;17253781;17346968;17360540;17429068;17451557;17538014;17760859;17927562;17956946;18182008;18287528;18342609;18524849;18669648;18809720;1898986;19015319;19109418;19116309;19151722;19164740;19338388;19369418;1957170;19631211;19758564;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21119006;21219331;2142332;21550981;21689688;21844168;22013193;22094269;22304919;22964304;23396477;2521221;2522352;25364732;25436559;25492864;3130248;3134048;32938616;33968037;35051231;36241641;36686457;39894887;7528108;7539720;7822426;7844144;7929562;8001155;8128252;8132710;8221884;8253837;8505331;8548803;8599929;8602245;8620540;9114004;9177194;9244307;9288971;9405360;9751720;9990005", "class_list": "", "function": "Data show a mechanism by which GTPase Gem contributes to the mitotic progression by maintaining correct spindle length through the kinesin Kif9., [RefSeq, PubMed]; Essential for normal male fertility and for progressive motility of spermatozoa., [UniProtKB, UniProtKB]; Identification of bi-allelic KIF9 loss-of-function variants contributing to asthenospermia and male infertility in two Chinese families. Publication Status: Online-Only, [RefSeq, PubMed]; Kinesin KIF9 and reggie/flotillin proteins are novel regulators of macrophage podosomes and their interaction is critical for podosomal matrix-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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q86Z28;Q9H8A4", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0042802 identical protein binding;GO:0016887 ATP hydrolysis activity;GO:0003777 microtubule motor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0005871 kinesin complex;GO:0002102 podosome;GO:0036126 sperm flagellum", "go_biological_process": "GO:0071801 regulation of podosome assembly;GO:1903008 organelle disassembly;GO:0022617 extracellular matrix disassembly;GO:0007018 microtubule-based movement;GO:1901317 regulation of flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "Q9HAQ2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14978-1", "uniprot_id": [ { "id": "NOLC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14978", "type": "external" } ], "mass": 73603.0, "length": 699, "protein_name": "Nucleolar and coiled-body phosphoprotein 1", "gene_name": "NOLC1", "organism": "Human", "refseq_name": "nucleolar and coiled-body phosphoprotein 1 isoform 1", "refseq_ac": [ { "id": "NP_001271317", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271317", "type": "external" } ], "gene_names_uniprotkb": "NOLC1; KIAA0035; NS5ATP13", "gene_names_refseq": "NOLC1; NOPP130; NOPP140; NS5ATP13; P130; Srp40", "protein_names_uniprotkb": "Nucleolar and coiled-body phosphoprotein 1; 140 kDa nucleolar phosphoprotein; HCV NS5A-transactivated protein 13; Hepatitis C virus NS5A-transactivated protein 13; Nopp140; Nucleolar 130 kDa protein; Nucleolar phosphoprotein p130", "protein_names_refseq": "140 kDa nucleolar phosphoprotein; HCV NS5A trans-regulated protein 13; HCV NS5A-transactivated protein 13; hepatitis C virus NS5A-transactivated protein 13; nucleolar 130 kDa protein; nucleolar and coiled-body phosphoprotein 1 isoform 1; nucleolar and coiled-body phosphprotein 1; nucleolar phosphoprotein p130; nucleolar protein p130", "tax_id": 9606, "disease": "Treacher Collins syndrome (Disease Ontology:DOID:2908)", "pathway": " (hsa:9221)", "pathway_count": 1, "publication_count": 128, "publication_id_list": "10567578;11237011;12167624;15144186;15302935;16964243;17081983;17287340;17322306;17693683;17924679;18212344;18253863;18318008;18452278;18491316;18669648;18767875;18991276;19007248;19413330;19415658;19608861;19651622;19664994;19664995;19690332;19691289;20068231;20166139;20230923;20305658;21406692;21740066;23186163;23481700;24129315;24275569;24714562;24715725;25114211;25218447;25576301;25755297;25772364;25917549;26154972;26375851;26399832;26728094;26768311;26992070;27452731;27600516;27846572;27893789;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29605689;29632711;30315122;30379171;30410026;30484775;30524438;30779550;30833945;31092671;31154438;31217245;31222486;31373491;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33592498;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34211107;34357683;34509645;35051231;35138101;35251023;35580925;36215666;36241641;36284347;37296317;37670166;37938771;37939867;38062753;38665916;40596516;7657714;8630004;9016786", "class_list": "", "function": "Effects of the Nonstructural Protein-Nucleolar and Coiled-Body Phosphoprotein 1 Protein Interaction on rRNA Synthesis Through Telomeric Repeat-Binding Factor 2 Regulation Under Nucleolar Stress., [RefSeq, PubMed]; High expression of NOLC1 as an independent prognostic factor for survival in patients with colorectal cancer., [RefSeq, PubMed]; NOPP140 is involved in a PKA signaling pathway that leads to agp activation, [RefSeq, PubMed]; Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:10567578, PubMed:26399832). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with TCOF1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832). Involved in nucleologenesis, possibly by playing a role in the maintenance of the fundamental structure of the fibrillar center and dense fibrillar component in the nucleolus (PubMed:9016786). It has intrinsic GTPase and ATPase activities (PubMed:9016786)., [UniProtKB, PubMed, PubMed, PubMed]; Roles of NOLC1 in cancers and viral infection. Review article, [RefSeq, PubMed]; T7 phage display reveals NOLC1 as a GM3 binding partner in human breast cancer MCF-7 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 60, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "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": "Q15030;Q5VV70;Q9BUV3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0030674 protein-macromolecule adaptor activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0001650 fibrillar center;GO:0015030 Cajal body", "go_biological_process": "GO:0014029 neural crest formation;GO:0000278 mitotic cell cycle;GO:0006417 regulation of translation;GO:0042254 ribosome biogenesis;GO:0014032 neural crest cell development", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q14978-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14995-1", "uniprot_id": [ { "id": "NR1D2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14995", "type": "external" } ], "mass": 64643.0, "length": 579, "protein_name": "Nuclear receptor subfamily 1 group D member 2", "gene_name": "NR1D2", "organism": "Human", "refseq_name": "nuclear receptor subfamily 1 group D member 2 isoform 1", "refseq_ac": [ { "id": "NP_005117", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005117", "type": "external" } ], "gene_names_uniprotkb": "NR1D2", "gene_names_refseq": "BD73; EAR-1R; NR1D2; REVERBB; REVERBbeta; RVR", "protein_names_uniprotkb": "Nuclear receptor subfamily 1 group D member 2; EAR-1R; Orphan nuclear hormone receptor BD73; RVR; Rev-erb alpha-related receptor; Rev-erb-beta; V-erbA-related protein 1-related", "protein_names_refseq": "V-erbA-related protein 1-related; nuclear receptor subfamily 1 group D member 2 isoform 1; orphan nuclear hormone receptor BD73; rev-erb alpha-related receptor; rev-erb-beta; rev-erba-alpha-related receptor", "tax_id": 9606, "disease": "atrioventricular septal defect (Disease Ontology:DOID:0050651)", "pathway": " (hsa:9975); (R-HSA-383280)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10235266;10542397;11113208;11865025;15175151;15896744;16751179;17870090;17892483;17996965;19243223;19413330;21123168;22613952;22682217;26392558;27920218;28514659;28832583;28834231;29242379;29393594;29786170;29789417;30379171;31848261;36215666;36361737;36897197;37172592;38255844;38804230;7997240;9653119", "class_list": "", "function": "Association between glucose metabolism, the circadian cycle and hypoxia: Evaluation of the NPAS2 and Rev-Erb-alpha protein serum levels in obstructive sleep apnea patients - a pilot study., [RefSeq, PubMed]; Functional Characterization of Circadian Nuclear Receptors REV-ERBalpha and REV-ERBbeta in Human Osteosarcoma Cell Cultures. Publication Status: Online-Only, [RefSeq, PubMed]; Human nuclear hormone receptor activity contributes to malaria parasite liver stage development., [RefSeq, PubMed]; Novel CLOCK and NR1D2 variants in 64 sighted Japanese individuals with non-24-hour sleep-wake rhythm disorder., [RefSeq, PubMed]; Role of Circadian Transcription Factor Rev-Erb in Metabolism and Tissue Fibrosis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the nuclear hormone receptor family, specifically the NR1 subfamily of receptors. The encoded protein functions as a transcriptional repressor and may play a role in circadian rhythms and carbohydrate and lipid metabolism. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]., [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 and CLOCK. Also regulates genes involved in metabolic functions, including lipid metabolism and the 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 nuclegotides (RevDR-2). Acts as a potent competitive repressor of ROR alpha (RORA) function and also negatively regulates the expression of NR1D1. Regulates lipid and energy homeostasis in the skeletal muscle via repression of genes involved in lipid metabolism and myogenesis including: CD36, FABP3, FABP4, UCP3, SCD1 and MSTN. Regulates hepatic lipid metabolism via the repression of APOC3. Represses gene expression at a distance in macrophages by inhibiting the transcription of enhancer-derived RNAs (eRNAs). In addition to its activity as a repressor, can also act as a transcriptional activator. Acts as a transcriptional activator of the sterol regulatory element-binding protein 1 (SREBF1) and the inflammatory mediator interleukin-6 (IL6) in the skeletal muscle (By similarity). Plays a role in the regulation of circadian sleep/wake cycle; essential for maintaining wakefulness during the dark phase or active period (By similarity). Key regulator of skeletal muscle mitochondrial function; negatively regulates the skeletal muscle expression of core clock genes and genes involved in mitochondrial biogenesis, fatty acid beta-oxidation and lipid metabolism (By similarity). May play a role in the circadian control of neutrophilic inflammation in the lung (By similarity)., [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": 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": 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": "B2R8Q3;O00402;Q86XD4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0004879 nuclear receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0055088 lipid homeostasis", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q14995-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16512-1", "uniprot_id": [ { "id": "PKN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16512", "type": "external" } ], "mass": 103932.0, "length": 942, "protein_name": "Serine/threonine-protein kinase N1", "gene_name": "PKN1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase N1 isoform 2", "refseq_ac": [ { "id": "NP_002732", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002732", "type": "external" } ], "gene_names_uniprotkb": "PKN1; PAK1; PKN; PRK1; PRKCL1", "gene_names_refseq": "DBK; PAK-1; PAK1; PKN-ALPHA; PKN1; PKN; PRK1; PRKCL1", "protein_names_uniprotkb": "Serine/threonine-protein kinase N1; 2.7.11.13; PAK-1; Protease-activated kinase 1; Protein kinase C-like 1; Protein kinase C-like PKN; Protein kinase PKN-alpha; Protein-kinase C-related kinase 1; Serine-threonine protein kinase N", "protein_names_refseq": "protease-activated kinase 1; protein kinase C-like 1; protein kinase C-like PKN; protein kinase C-related kinase 1; protein kinase PKN-alpha; serine-threonine kinase N; serine/threonine protein kinase N; serine/threonine-protein kinase N1 isoform 2; serine/threonine-protein kinase N1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5585); (R-HSA-5625740); (R-HSA-5625886); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013149)", "pathway_count": 7, "publication_count": 428, "publication_id_list": "10037681;10232922;10330186;10388627;10441506;10464238;10467162;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10753910;10792047;10873388;10873802;10924361;10958683;11007481;11058585;11085924;11104762;11134534;11149925;11207612;11237011;11313932;11331307;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11942626;11961559;12071859;12093360;12096337;12195014;12221077;12221096;12351724;12432077;12473120;12514133;12531887;12546821;12547822;12650940;12665586;12783890;12857875;12877655;12923183;14512443;14514689;1464587;14675773;14718541;15003508;15023524;15033976;15064355;15107133;15133129;15147912;15184667;15302923;15302935;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15728722;15791647;15850391;15858067;15866170;15897194;15944396;16002401;16079795;16112081;16116428;16184169;16217026;16243036;16331689;16467373;16473593;16492808;16507994;16519628;16603238;16611232;16630611;16636067;16702231;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16964243;16968698;17077126;17081983;17145773;17196961;17198702;17214551;17244649;17301291;17322306;17332740;17344846;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18066052;18158243;18218625;18220336;18249095;18347018;18396277;18426980;18452278;18653540;18669648;18691976;18707149;18767875;18802007;18829452;18838382;19269969;19413330;19415658;19494238;19605563;19608861;19635168;19651622;19664994;19664995;19673492;19690332;19713215;19723632;19934221;20030946;20058876;20068231;20101212;20188095;20228790;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21148482;21224381;21351730;21373644;21406692;21454492;21542010;21565175;21576392;21613211;21699497;21730051;21749319;21754995;21757538;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22475431;22544926;22608513;22645359;22673745;22734669;22790947;22893700;22911862;22970203;22992742;23186163;23200924;23209303;23255595;23288169;23434736;23572525;23707487;23718289;23870313;23940355;24086303;24114839;24128008;24248594;24259668;24275569;24335996;24352656;24366607;24714562;24715725;24859002;24933155;24960694;25024229;25211221;25425145;25428919;25576301;25645385;25673874;25704760;25721503;25795300;25862245;25880248;25892735;26129894;26154972;26371245;26375851;26529257;26728094;26811146;26887924;26992070;27117132;27145964;27216196;27481945;27555588;27566826;27600516;27713499;27806292;27846572;27862975;27869121;27920218;27986909;28063628;28112683;28114311;28196833;28228285;28514659;28584191;28832583;28834231;28904123;29089502;29146911;29242379;29351928;29358323;29382922;29393594;29437277;29493099;29508533;29557506;29632046;29741879;29786170;30206226;30315122;30410026;30429286;30524438;30853411;31105010;31217245;31844290;31871319;31981797;32127582;32157095;32203420;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34405274;34509645;34561969;34932366;35051231;35154160;35251023;35318648;35533253;35561310;35580925;36010968;36241641;36284347;38838015;40914422;7479768;7512369;7559638;7673236;7721814;7753201;7835339;7851406;7988719;8021274;8107774;8135837;8537347;8543060;8557118;8571126;8617235;8621664;8643598;8645157;8649427;8662509;8662891;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8943281;8990121;8994827;9013646;9099726;9111050;9113980;9175763;9278512;9305890;9354661;9418861;9438849;9478917;9490638;9497316;9535835;9548756;9582072;9659915;9670022;9751706;9792683;9822598;9822605;9829970;9843499;9889122;9988689", "class_list": "", "function": "Cyclin-dependent kinase 1-mediated phosphorylation of protein kinase N1 promotes anchorage-independent growth and migration., [RefSeq, PubMed]; Novel roles of PRK1 and PRK2 in cilia and cancer biology. Publication Status: Online-Only, [RefSeq, PubMed]; PKC-related serine/threonine-protein kinase involved in various processes such as regulation of the intermediate filaments of the actin cytoskeleton, cell migration, tumor cell invasion and transcription regulation. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14. Regulates the cytoskeletal network by phosphorylating proteins such as VIM and neurofilament proteins NEFH, NEFL and NEFM, leading to inhibit their polymerization. Phosphorylates 'Ser-575', 'Ser-637' and 'Ser-669' of MAPT/Tau, lowering its ability to bind to microtubules, resulting in disruption of tubulin assembly. Acts as a key coactivator of androgen receptor (AR)-dependent transcription, by being recruited to AR target genes and specifically mediating phosphorylation of 'Thr-11' of histone H3 (H3T11ph), a specific tag for epigenetic transcriptional activation that promotes demethylation of histone H3 'Lys-9' (H3K9me) by KDM4C/JMJD2C. Phosphorylates HDAC5, HDAC7 and HDAC9, leading to impair their import in the nucleus. Phosphorylates 'Thr-38' of PPP1R14A, 'Ser-159', 'Ser-163' and 'Ser-170' of MARCKS, and GFAP. Able to phosphorylate RPS6 in vitro., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins and may mediate the Rho-dependent signaling pathway. This kinase can be activated by phospholipids and by limited proteolysis. The 3-phosphoinositide dependent protein kinase-1 (PDPK1/PDK1) is reported to phosphorylate this kinase, which may mediate insulin signals to the actin cytoskeleton. The proteolytic activation of this kinase by caspase-3 or related proteases during apoptosis suggests its role in signal transduction related to apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulation of PKN1 as a Prognosis Biomarker for Endometrial 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": 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": 32, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K7W5;B2R9R4;B3KVN3;Q15143;Q504U4;Q8IUV5;Q9UD44", "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": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "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": "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": "2.7.11.39", "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": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.4.21.77", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.77", "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": "3.1.11.-", "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": "3.4.21.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.35", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.1.2.-", "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": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "1.14.14.18", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.18", "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": "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": "1.14.11.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.66", "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:0035402 histone H3T11 kinase activity;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005829 cytosol", "go_biological_process": "GO:0010631 epithelial cell migration;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006468 protein phosphorylation;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 43.5, "record_id": "Q16512-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15750-1", "uniprot_id": [ { "id": "TAB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15750", "type": "external" } ], "mass": 54644.0, "length": 504, "protein_name": "TGF-beta-activated kinase 1 and MAP3K7-binding protein 1", "gene_name": "TAB1", "organism": "Human", "refseq_name": "TGF-beta-activated kinase 1 and MAP3K7-binding protein 1 isoform alpha", "refseq_ac": [ { "id": "NP_006107", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006107", "type": "external" } ], "gene_names_uniprotkb": "TAB1; MAP3K7IP1", "gene_names_refseq": "3'-Tab1; MAP3K7IP1; TAB1", "protein_names_uniprotkb": "TGF-beta-activated kinase 1 and MAP3K7-binding protein 1; Mitogen-activated protein kinase kinase kinase 7-interacting protein 1; TAK1-binding protein 1; TGF-beta-activated kinase 1-binding protein 1", "protein_names_refseq": "TAK1-binding protein 1; TGF-beta-activated kinase 1 and MAP3K7-binding protein 1 isoform alpha; mitogen-activated protein kinase kinase kinase 7-interacting protein 1; transforming growth factor beta-activated kinase-binding protein 1", "tax_id": 9606, "disease": "asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:10454); (R-HSA-168638); (R-HSA-2871837); (R-HSA-445989); (R-HSA-450302); (R-HSA-450321); (R-HSA-5357956); (R-HSA-5607764); (R-HSA-5689880); (R-HSA-9014325); (R-HSA-9020702); (R-HSA-937042); (R-HSA-937072); (R-HSA-9645460); (R-HSA-9705671); (R-HSA-975163)", "pathway_count": 16, "publication_count": 392, "publication_id_list": 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"class_list": "", "function": "Down-regulated TAB1 suppresses the replication of Coxsackievirus B5 via activating the NF-kappaB pathways through interaction with viral 3D polymerase. Publication Status: Online-Only, [RefSeq, PubMed]; Induction of pro-inflammatory genes by fibronectin DAMPs in three fibroblast cell lines: Role of TAK1 and MAP kinases. Publication Status: Online-Only, [RefSeq, PubMed]; Key adapter protein that plays an essential role in JNK and NF-kappa-B activation and proinflammatory cytokines production in response to stimulation with TLRs and cytokines (PubMed:22307082, PubMed:24403530). Mechanistically, associates with the catalytic domain of MAP3K7/TAK1 to trigger MAP3K7/TAK1 autophosphorylation leading to its full activation (PubMed:10838074, PubMed:25260751, PubMed:37832545). Similarly, associates with MAPK14 and triggers its autophosphorylation and subsequent activation (PubMed:11847341, PubMed:29229647). In turn, MAPK14 phosphorylates TAB1 and inhibits MAP3K7/TAK1 activation in a feedback control mechanism (PubMed:14592977). Also plays a role in recruiting MAPK14 to the TAK1 complex for the phosphorylation of the TAB2 and TAB3 regulatory subunits (PubMed:18021073)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene was identified as a regulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular signaling pathways, such as those induced by TGF beta, interleukin 1, and WNT-1. This protein interacts and thus activates TAK1 kinase. It has been shown that the C-terminal portion of this protein is sufficient for binding and activation of TAK1, while a portion of the N-terminus acts as a dominant-negative inhibitor of TGF beta, suggesting that this protein may function as a mediator between TGF beta receptors and TAK1. This protein can also interact with and activate the mitogen-activated protein kinase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, in addition to the MAPKK pathways, which contributes to the biological responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [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": 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": 15, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 15, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "Q2PP09;Q8IZW2", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0042802 identical protein binding;GO:0004722 protein serine/threonine phosphatase activity;GO:0044877 protein-containing complex binding;GO:0048273 mitogen-activated protein kinase p38 binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007249 canonical NF-kappaB signal transduction;GO:0038061 non-canonical NF-kappaB signal transduction;GO:0043408 regulation of MAPK cascade;GO:0141111 positive regulation of cGAS/STING signaling pathway", "synthesized_glycan_count": 0, "hit_score": 41.0, "record_id": "Q15750-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21283-1", "uniprot_id": [ { "id": "VATC1_HUMAN", "url": "https://www.uniprot.org/uniprot/P21283", "type": "external" } ], "mass": 43942.0, "length": 382, "protein_name": "V-type proton ATPase subunit C 1", "gene_name": "ATP6V1C1", "organism": "Human", "refseq_name": "V-type proton ATPase subunit C 1", "refseq_ac": [ { "id": "NP_001686", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001686", "type": "external" } ], "gene_names_uniprotkb": "ATP6V1C1; ATP6C; ATP6D; VATC", "gene_names_refseq": "ATP6C; ATP6D; ATP6V1C1; VATC; Vma5", "protein_names_uniprotkb": "V-type proton ATPase subunit C 1; V-ATPase subunit C 1; Vacuolar proton pump subunit C 1", "protein_names_refseq": "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1; H(+)-transporting two-sector ATPase, subunit C; H+ -ATPase C subunit; H+-transporting ATPase chain C, vacuolar; V-ATPase C subunit; V-ATPase subunit C 1; V-type proton ATPase subunit C 1; subunit C of vacuolar proton-ATPase V1 domain; testicular tissue protein Li 223; vacuolar ATP synthase subunit C; vacuolar proton pump C subunit; vacuolar proton pump subunit C 1; vacuolar proton pump, 42-kD subunit; vacuolar proton-ATPase, subunit C, VI domain", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); cancer (Disease Ontology:DOID:162); stomach carcinoma (Disease Ontology:DOID:5517)", "pathway": " (hsa:528); (R-HSA-1222556); (R-HSA-77387); (R-HSA-917977); (R-HSA-9639288); (R-HSA-983712); (R-HSA-9857377)", "pathway_count": 7, "publication_count": 166, "publication_id_list": "10029572;10409623;10802645;11237011;11237855;11707601;11779865;11800564;11970843;12384298;12531241;15854902;15878852;16098514;16227996;16271887;16564538;16574064;16609065;16793765;17051221;17470430;17662945;17729390;18077418;18406720;18497260;18604198;18794901;19089323;19321446;20112406;20134026;20381137;21124855;2147024;22053050;22087256;22223895;22424782;22544926;22575674;22706990;22980980;23401004;23481700;23723238;24081491;24095279;24715725;25259925;25263562;25418920;25457612;25548167;25561175;25567906;25576301;25645385;25819761;25892735;25901422;26154972;26205815;26375851;26449471;26586190;26972053;26992070;27308486;27487210;27600516;27648300;27846572;27920218;28066558;28199306;28199315;28218747;28228285;2825632;2848506;28504970;28514659;28832583;28834231;29053970;29056322;29123071;29236692;29242379;29393594;29437277;29508533;29557506;29596046;29632046;29632711;29769354;29786170;2986535;30061680;30181260;30254208;30315122;30337524;30484775;30524438;3061785;30651352;30779550;30781750;30833945;31154438;31222486;31844290;31848261;31901859;31937595;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33065002;33141586;33183740;33298915;33392160;33537174;33592498;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34405274;34509645;34932366;35051231;35561310;35580925;36010968;36215666;36241641;36284347;40914422;6141558;6309857;7499430;7929063;7980580;8250920;8300632;8537108;8682206;8995282;9465039;9609117;9793760", "class_list": "", "function": "Knockdown of C1 reduces breast cancer growth, metastasis, and osteolytic lesion formation., [RefSeq, PubMed]; MIR29a plays an important role during the trans-differentiation of Activated hepatic stellate cells in the resolution of liver fibrosis, in part, through regulation of ATP6V1C1. Publication Status: Online-Only, [RefSeq, PubMed]; Multi-cancer V-ATPase molecular signatures: A distinctive balance of subunit C isoforms in esophageal carcinoma., [RefSeq, PubMed]; Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed]; The ATPase subunit of ATP6V1C1 inhibits autophagy and enhances radiotherapy resistance in esophageal squamous cell carcinoma., [RefSeq, PubMed]; This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008]., [RefSeq]; We assessed ATPaseC1 expression in a sample of oral squamous cell carcinoma using tissue microarrays to analyze the relation between ATPaseC1 expression and clinical, histopathological and prognostic parameters., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0046961 proton-transporting ATPase activity, rotational mechanism", "go_cellular_component": "GO:0098850 extrinsic component of synaptic vesicle membrane;GO:0016469 proton-transporting two-sector ATPase complex;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0045177 apical part of cell", "go_biological_process": "GO:0016241 regulation of macroautophagy;GO:0097401 synaptic vesicle lumen acidification;GO:1902600 proton transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 16.9, "record_id": "P21283-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TC27-1", "uniprot_id": [ { "id": "ADA32_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TC27", "type": "external" } ], "mass": 87948.0, "length": 787, "protein_name": "Disintegrin and metalloproteinase domain-containing protein 32", "gene_name": "ADAM32", "organism": "Human", "refseq_name": "disintegrin and metalloproteinase domain-containing protein 32 isoform 2", "refseq_ac": [ { "id": "NP_001300923", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001300923", "type": "external" } ], "gene_names_uniprotkb": "ADAM32; PRO21340", "gene_names_refseq": "ADAM32", "protein_names_uniprotkb": "Disintegrin and metalloproteinase domain-containing protein 32; ADAM 32", "protein_names_refseq": "a disintegrin and metalloprotease domain 32; a disintegrin and metalloproteinase domain 32; disintegrin and metalloproteinase domain-containing protein 32 isoform 2; disintegrin and metalloproteinase domain-containing protein 32; metalloproteinase 12-like protein; testicular tissue protein Li 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:203102)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;12568724;12975309;15340161;17081983;18991276;20068231;29557506;35051231;36010968;36215666;39894887", "class_list": "", "function": "May play a role in sperm development and fertilization This is a non-catalytic metalloprotease-like protein., [UniProtKB]; This gene encodes a member of the disintegrin family of membrane-anchored proteins that play a role in diverse biological processes such as brain development, fertilization, tumor development and inflammation. This gene is predominantly expressed in the testis. The encoded protein undergoes proteolytic processing to generate a mature polypeptide comprised of an metalloprotease, disintegrin and epidermal growth factor-like domains. This gene is located in a cluster of other disintegrin and metallopeptidase family genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 33, "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": "Q8TC42", "ec_number_list": [], "go_molecular_function": "GO:0004222 metalloendopeptidase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0097228 sperm principal piece;GO:0016020 membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0007155 cell adhesion;GO:0007339 binding of sperm to zona pellucida;GO:0008584 male gonad development", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8TC27-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBL8-1", "uniprot_id": [ { "id": "NMRL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBL8", "type": "external" } ], "mass": 33344.0, "length": 299, "protein_name": "NmrA-like family domain-containing protein 1", "gene_name": "NMRAL1", "organism": "Human", "refseq_name": "nmrA-like family domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001292070", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001292070", "type": "external" } ], "gene_names_uniprotkb": "NMRAL1; HSCARG", "gene_names_refseq": "HSCARG; NMRAL1; SDR48A1", "protein_names_uniprotkb": "NmrA-like family domain-containing protein 1", "protein_names_refseq": "NmrA-like family domain containing 1; epididymis secretory sperm binding protein; nmrA-like family domain-containing protein 1 isoform 1; nmrA-like family domain-containing protein 1; short chain dehydrogenase/reductase family 48A, member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57407); (R-HSA-70635); (R-HSA-9956520)", "pathway_count": 3, "publication_count": 125, "publication_id_list": "10369256;10813810;11237011;11237854;11571557;11708871;11941481;12459178;12807890;12815590;12859189;12948741;14680976;15050968;15266621;16141327;16475226;17100653;17407445;17496144;17900240;18263583;18323623;18473344;19006241;19254724;1943692;19754428;20068231;22076378;22544926;2263616;22869377;22898188;23481700;2358466;23649895;24703693;24714562;24715725;24832601;24889030;25179242;25418920;25505266;25576301;25645385;25892735;26154972;26375851;26592762;26694452;26728094;26768311;26992070;27397612;27600516;27846572;27920218;28111830;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30379171;30484775;30524438;31217245;31796584;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34093574;34171305;34211107;34405274;34509645;34561969;35051231;35094059;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;518841;6249820;6372096;7649538;8898077;9256435;934749;9686347;9852088", "class_list": "", "function": "Data indicate that HSCARG and USP7 function in concert in inhibiting polyubiquination of NEMO, thus inhibiting NF-kappaB activity. Publication Status: Online-Only, [RefSeq, PubMed]; Expression, crystallization and preliminary X-ray crystallographic studies of HSCARG at a resolution of 2.4 A; crystals belong to F23 space group, with unit cell parameters a=b=c=223.30A, alpha=beta=gamma=90 degrees, [RefSeq, PubMed]; Functional variant rs2270363 on 16p13.3 confers schizophrenia risk by regulating NMRAL1., [RefSeq, PubMed]; HSCARG regulation of argininosuccinate synthetase activity is crucial for maintaining the intracellular balance between redox state and nitric oxide levels, [RefSeq, PubMed]; In response to the changes in the NADPH/NADP(+) ratio within cells, HSCARG, as a redox sensor, associates and dissociates with NADPH to form a new dynamic equilibrium., [RefSeq, PubMed]; Investigated the role of NmrA like redox sensor 1 (HSCARG), a cellular redox sensor. Demonstrated how HSCARG interacts with proliferating cell nuclear antigen (PCNA) in the translesion synthesis pathway, and showed that HSCARG, which is highly expressed in breast carcinoma, promotes accumulation of double stranded breaks and mutations., [RefSeq, PubMed]; One of the functions regulated by HSCARG may be argininosuccinate synthetase that is involved in NO synthesis, [RefSeq, PubMed]; Redox sensor protein. Undergoes restructuring and subcellular redistribution in response to changes in intracellular NADPH/NADP(+) levels. At low NADPH concentrations the protein is found mainly as a monomer, and binds argininosuccinate synthase (ASS1), the enzyme involved in nitric oxide synthesis. Association with ASS1 impairs its activity and reduces the production of nitric oxide, which subsequently prevents apoptosis. Under normal NADPH concentrations, the protein is found as a dimer and hides the binding site for ASS1. The homodimer binds one molecule of NADPH. Has higher affinity for NADPH than for NADP(+). Binding to NADPH is necessary to form a stable dimer., [UniProtKB, PubMed, PubMed, PubMed]; These findings suggest that the increased susceptibility of the G6PD-knockdown cells to viral infection was due to impaired NF-kappaB signaling and antiviral response mediated by HSCARG. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an NADPH sensor protein that preferentially binds to NADPH. The encoded protein also negatively regulates the activity of NF-kappaB in a ubiquitylation-dependent manner. It plays a key role in cellular antiviral response by negatively regulating the interferon response factor 3-mediated expression of interferon beta. Alternative splicing of this gene 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q9HBL8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2S5-1", "uniprot_id": [ { "id": "WRP73_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2S5", "type": "external" } ], "mass": 51588.0, "length": 460, "protein_name": "WD repeat-containing protein WRAP73", "gene_name": "WRAP73", "organism": "Human", "refseq_name": "WD repeat-containing protein WRAP73", "refseq_ac": [ { "id": "NP_060288", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060288", "type": "external" } ], "gene_names_uniprotkb": "WRAP73; WDR8", "gene_names_refseq": "WDR8; WRAP73", "protein_names_uniprotkb": "WD repeat-containing protein WRAP73; WD repeat-containing protein 8; WD repeat-containing protein antisense to TP73 gene", "protein_names_refseq": "WD repeat domain 8; WD repeat-containing protein WRAP73; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:49856)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "11237011;11401440;14654843;17322306;23186163;24366607;24715725;25418920;25892735;26154972;26375851;26545777;26675238;26992070;27600516;27920218;28218747;28514659;28832583;28904123;29242379;29437277;29493099;29632711;29769354;30315122;30410026;30429286;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32350084;32387766;32938616;32983136;33298915;33592498;33693649;33912179;33968037;34509645;35051231;35318648;35406752;35580925;36241641;36284347", "class_list": "", "function": "Exome sequencing and functional studies in zebrafish identify WDR8 as the causative gene for isolated Microspherophakia in Indian families., [RefSeq, PubMed]; Knockdown of Wdr8 or hMsd1/SSX2IP displayed very similar mitotic defects, in which spindle microtubules became shortened and misoriented., [RefSeq, PubMed]; Mitotic Maturation Compensates for Premature Centrosome Splitting and PCM Loss in Human cep135 Knockout Cells. Publication Status: Online-Only, [RefSeq, PubMed]; The SSX2IP:WRAP73 complex is proposed to act as regulator of spindle anchoring at the mitotic centrosome. Required for the centrosomal localization of SSX2IP and normal mitotic bipolar spindle morphology (PubMed:26545777). Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP, CEP290 and PIBF1/CEP90. Required for ciliogenesis and involved in the removal of the CEP97:CCP110 complex from the mother centriole. Involved in ciliary vesicle formation at the mother centriole and required for the docking of vesicles to the basal body during ciliogenesis; may promote docking of RAB8A- and ARL13B-containing vesicles (PubMed:26675238)., [UniProtKB, PubMed, 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. Studies of the related mouse protein suggest that the encoded protein may play a role in the process of ossification. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q5T0D6;Q9BUH7;Q9NTK7;Q9NX56", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005815 microtubule organizing center;GO:0005814 centriole;GO:0034451 centriolar satellite", "go_biological_process": "GO:0090307 mitotic spindle assembly;GO:0030030 cell projection organization;GO:1902857 positive regulation of non-motile cilium assembly;GO:1990810 microtubule anchoring at mitotic spindle pole body", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9P2S5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07858-1", "uniprot_id": [ { "id": "CATB_HUMAN", "url": "https://www.uniprot.org/uniprot/P07858", "type": "external" } ], "mass": 37822.0, "length": 339, "protein_name": "Cathepsin B", "gene_name": "CTSB", "organism": "Human", "refseq_name": "cathepsin B isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_001899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001899", "type": "external" } ], "gene_names_uniprotkb": "CTSB; CPSB", "gene_names_refseq": "APPS; CPSB; CTSB; KWE; RECEUP", "protein_names_uniprotkb": "Cathepsin B; 3.4.22.1; APP secretase; APPS; Cathepsin B1", "protein_names_refseq": "APP secretase; amyloid precursor protein secretase; cathepsin B isoform 1 preproprotein; cathepsin B1; cysteine protease; epididymis secretory sperm binding protein; keratolytic winter erythema (Oudtshoorn skin disease)", "tax_id": 9606, "disease": "metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); polycystic kidney disease (Disease Ontology:DOID:0080322); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); otitis media (Disease Ontology:DOID:10754); intracranial aneurysm (Disease Ontology:DOID:10941); urinary bladder cancer (Disease Ontology:DOID:11054); Guillain-Barre syndrome (Disease Ontology:DOID:12842); renal tubular acidosis (Disease Ontology:DOID:14219); Parkinson's disease (Disease Ontology:DOID:14330); breast cancer (Disease Ontology:DOID:1612); brain ischemia (Disease Ontology:DOID:2316); multiple sclerosis (Disease Ontology:DOID:2377); transitional cell carcinoma (Disease Ontology:DOID:2671); glioblastoma (Disease Ontology:DOID:3068); high grade glioma (Disease Ontology:DOID:3070); brain infarction (Disease Ontology:DOID:3454); esophagus adenocarcinoma (Disease Ontology:DOID:4914); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); fascioliasis (Disease Ontology:DOID:885); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); keratolytic winter erythema (MONDO:MONDO:0007854)", "pathway": " (hsa:1508); (R-HSA-1442490); (R-HSA-1679131); (R-HSA-2022090); (R-HSA-2132295); (R-HSA-6798695); (R-HSA-9766229); (R-HSA-9958810)", "pathway_count": 8, "publication_count": 228, "publication_id_list": "10.1101/2023.09.13.557529;10036229;10049780;10064083;10072072;10480952;10540230;10551873;10593899;10596943;10631941;10631952;10639150;10748235;10809722;10809954;10966814;11013208;11016923;11119712;11237011;11529500;11577169;11684289;11790530;11813165;11853874;11927537;12078484;12198549;12220505;12482924;12579531;12643545;12742663;12748383;1400327;14517306;14602708;14716310;14731593;15005656;15226270;15257288;15265795;15749704;15837520;15911768;15950618;16181339;16242130;16303743;1637335;16415873;16618111;16733801;16824007;16825197;16857668;16973841;1704217;17081065;17088321;17142755;17275357;17283181;17452530;17686471;18046453;18082565;18166152;18292509;18305481;18509083;18622425;18653540;1868826;18718938;18820679;18931679;19079358;19451267;1956401;19564404;19693541;19930869;19965672;2005102;20855885;20865800;21081667;21116285;2121367;21398612;21402738;21441454;21593211;21604257;21673904;2169335;2190094;21935455;22164301;22223641;22241472;22299025;22323579;22382088;2253219;2307289;23090970;23650620;2391366;23986888;24190977;24715725;25253721;2537292;2548603;25502872;2551898;25645385;26280083;26992070;27452731;28278510;2834383;2845110;28457472;28467828;28649982;28904123;29242379;29314611;29356040;29557506;29632711;29769354;29786170;29789417;3010323;30192525;3038863;30429286;30573663;31611695;31844290;31848261;32125861;32157095;32162841;3223920;32350084;32357974;32488085;32938616;32983136;33043033;33091337;33123756;33298915;33392160;33592498;33936100;34019948;34357683;34433824;3463996;34725712;35051231;35154160;35251023;35254053;35580925;36215666;36976816;37074911;37202717;37990007;38003335;38665916;39531497;3972105;40596516;6258630;6270089;6694361;7481823;7592972;7650016;7667286;7890717;8046351;8112600;8134367;8145819;8148318;8207089;8313912;8344253;8397411;8415765;8463259;8576151;8617355;8642258;8687433;8692836;8849454;8909537;8920930;8939989;8947036;8999957;9008168;9075930;9092507;9202021;9299326;9311912;9312039;9497313;9539769;9545226;9606180;9651395;9799232;9856810", "class_list": "glycogene", "function": "Correlation Analysis of CTSB Promoter Polymorphism and Function in Patients with Dilated Cardiomyopathy., [RefSeq, PubMed]; The Relationship Between Exercise, Cathepsin B, and Cognitive Functions: Systematic Review., [RefSeq, PubMed]; The Significance of Cathepsin B in Mediating Radiation Resistance in Colon Carcinoma Cell Line (Caco-2). Publication Status: Online-Only, [RefSeq, PubMed]; Thiol protease which is believed to participate in intracellular degradation and turnover of proteins (PubMed:12220505). Cleaves matrix extracellular phosphoglycoprotein MEPE (PubMed:12220505). Involved in the solubilization of cross-linked TG/thyroglobulin in the thyroid follicle lumen (By similarity). Has also been implicated in tumor invasion and metastasis (PubMed:3972105)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the C1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to form the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer's disease, the most common cause of dementia. Overexpression of the encoded protein has been associated with esophageal adenocarcinoma and other tumors. Both Cathepsin B and Cathepsin L are involved in the cleavage of the spike protein from the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) upon its entry to the human host cell. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Sep 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": 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": 744, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic; prognostic", "glycan_count": 12, "disease_count": 24, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B3KQR5;B3KRR5;Q503A6;Q96D87", "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": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.22.43", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.43", "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": "3.4.22.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.15", "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": "3.4.24.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.17", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "3.4.24.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.23", "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": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "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": "3.4.23.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.34", "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": "2.7.10.2", "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": "2.7.1.40", "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": "3.4.22.27", "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": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "3.4.24.65", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.65", "type": "external" }, { "id": "3.4.22.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.42", "type": "external" }, { "id": "3.4.22.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.38", "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": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "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": "3.1.1.-", "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": "3.5.1.23", "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": "2.3.2.27", "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": "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": "3.4.22.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.34", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "3.4.22.41", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.41", "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:0005518 collagen binding;GO:0008233 peptidase activity;GO:0043394 proteoglycan binding;GO:0004197 cysteine-type endopeptidase activity;GO:0008234 cysteine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0030855 epithelial cell differentiation;GO:0046718 symbiont entry into host cell;GO:0042981 regulation of apoptotic process;GO:0030574 collagen catabolic process", "synthesized_glycan_count": 0, "hit_score": 24.6, "record_id": "P07858-1", "record_type": "protein", "filter_code": "1001000.1000111.100000.000000000001000000.1100000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZE9-1", "uniprot_id": [ { "id": "ASPC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZE9", "type": "external" } ], "mass": 60183.0, "length": 553, "protein_name": "Tether containing UBX domain for GLUT4", "gene_name": "ASPSCR1", "organism": "Human", "refseq_name": "tether containing UBX domain for GLUT4 isoform 2", "refseq_ac": [ { "id": "NP_001238817", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238817", "type": "external" } ], "gene_names_uniprotkb": "ASPSCR1; ASPL; RCC17; TUG; UBXD9; UBXN9", "gene_names_refseq": "ASPCR1; ASPL; ASPSCR1; ASPS; RCC17; TUG; UBXD9; UBXN9", "protein_names_uniprotkb": "Tether containing UBX domain for GLUT4; Alveolar soft part sarcoma chromosomal region candidate gene 1 protein; Alveolar soft part sarcoma locus; Renal papillary cell carcinoma protein 17; UBX domain-containing protein 9", "protein_names_refseq": "ASPSCR1, UBX domain containing tether for SLC2A4; UBX domain protein 9; UBX domain-containing protein 9; alveolar soft part sarcoma chromosomal region candidate gene 1 protein; alveolar soft part sarcoma chromosome region, candidate 1; alveolar soft part sarcoma locus; renal cell carcinoma gene on chromosome 17; renal cell carcinoma, papillary, 17; renal papillary cell carcinoma protein 17; tether containing UBX domain for GLUT4 isoform 2; tether containing UBX domain for GLUT4", "tax_id": 9606, "disease": "alveolar soft part sarcoma (Disease Ontology:DOID:4239)", "pathway": " (hsa:79058); (R-HSA-1445148)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "11237011;11244503;11358836;15919790;15971998;16880201;17369524;17995453;19013499;19252894;19413330;19664994;20058876;20068231;20631154;20701589;20837646;20937701;21406692;21454505;21454690;21872626;21907143;22207755;22223895;23186163;23301498;23349634;23481700;24275569;24714562;2550440;25576301;26375851;26728094;28228285;28832583;28904123;29242379;29351928;29508533;29786170;30315122;31373491;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32938616;33298915;33592498;33717175;33936100;33968037;34171305;34509645;35051231;36010968;36656859;37731227;37936565;37938771;38051955;8094051;8664345", "class_list": "", "function": "PEComa with ASPSCR1::TFE3 fusion: expanding the molecular genetic spectrum of TFE3-rearranged PEComa with an emphasis on overlap with alveolar soft part sarcoma., [RefSeq, PubMed]; Structural remodeling of AAA+ ATPase p97 by adaptor protein ASPL facilitates posttranslational methylation by METTL21D., [RefSeq, PubMed]; Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation catalyzed by VCPKMT., [UniProtKB, PubMed]; The intracellular helical bundle of human glucose transporter GLUT4 is important for complex formation with ASPL., [RefSeq, PubMed]; The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]., [RefSeq]; UBXN9 inhibits the RNA exosome function to promote T cell control of liver tumorigenesis., [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": 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": 0, "reported_glycation": 0, "reported_snv": 21, "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": "A8K3K9;Q7Z6N7;Q8WV59;Q96LS5;Q96M40", "ec_number_list": [], "go_molecular_function": "", "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:0006886 intracellular protein transport;GO:0042593 glucose homeostasis;GO:0031401 positive regulation of protein modification process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9BZE9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQ92-1", "uniprot_id": [ { "id": "COPRS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQ92", "type": "external" } ], "mass": 20066.0, "length": 184, "protein_name": "Coordinator of PRMT5 and differentiation stimulator", "gene_name": "COPRS", "organism": "Human", "refseq_name": "coordinator of PRMT5 and differentiation stimulator isoform 1", "refseq_ac": [ { "id": "NP_060875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060875", "type": "external" } ], "gene_names_uniprotkb": "COPRS; C17orf79; COPR5", "gene_names_refseq": "C17orf79; COPR5; COPRS; HSA272196; TTP1", "protein_names_uniprotkb": "Coordinator of PRMT5 and differentiation stimulator; Cooperator of PRMT5; Protein TTP1", "protein_names_refseq": "cooperator of PRMT5; coordinator of PRMT5 and differentiation stimulator isoform 1; coordinator of PRMT5, differentiation stimulator", "tax_id": 9606, "disease": "", "pathway": " (hsa:55352); (R-HSA-3214858)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "10843809;11237011;11341840;11448779;11747826;11751582;11756452;15485929;17215844;17898714;18079182;18404153;19234465;20068231;20951943;21316606;21774791;22231400;23186163;23301498;29557506;30484775;33968037;9642256", "class_list": "", "function": "Histone-binding protein required for histone H4 methyltransferase activity of PRMT5. Specifically required for histone H4 'Arg-3' methylation mediated by PRMT5, but not histone H3 'Arg-8' methylation, suggesting that it modulates the substrate specificity of PRMT5. Specifically interacts with the N-terminus of histone H4 but not with histone H3, suggesting that it acts by promoting the association between histone H4 and PRMT5. Involved in CCNE1 promoter repression. Plays a role in muscle cell differentiation by modulating the recruitment of PRMT5 to the promoter of genes involved in the coordination between cell cycle exit and muscle differentiation (By similarity)., [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": 2, "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": "A6NP14;E1P656;Q96EF5;Q96P75", "ec_number_list": [], "go_molecular_function": "GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:2000234 positive regulation of rRNA processing;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0007517 muscle organ development", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9NQ92-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N960-1", "uniprot_id": [ { "id": "CE120_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N960", "type": "external" } ], "mass": 112640.0, "length": 986, "protein_name": "Centrosomal protein of 120 kDa", "gene_name": "CEP120", "organism": "Human", "refseq_name": "centrosomal protein of 120 kDa isoform 2", "refseq_ac": [ { "id": "NP_001159698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159698", "type": "external" } ], "gene_names_uniprotkb": "CEP120; CCDC100", "gene_names_refseq": "CCDC100; CEP120; JBTS31; SRTD13", "protein_names_uniprotkb": "Centrosomal protein of 120 kDa; Cep120; Coiled-coil domain-containing protein 100", "protein_names_refseq": "centrosomal protein 120kDa; centrosomal protein of 120 kDa isoform 2; centrosomal protein of 120 kDa; coiled-coil domain-containing protein 100", "tax_id": 9606, "disease": "Joubert syndrome 31 (Disease Ontology:DOID:0080277); short-rib thoracic dysplasia 13 with or without polydactyly (Disease Ontology:DOID:0110093)", "pathway": " (hsa:153241)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "11237011;14654843;17920017;19584346;24366607;24715725;25361962;25576301;25880248;26992070;27185865;27208211;27869121;28218747;28228285;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29789417;30192525;30315122;30410026;30429286;30779550;31217245;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32938616;32983136;33297941;33298915;33392160;33486889;33936100;33968037;33981976;34357683;34509645;34561969;34711653;34932366;35051231;35580925;36010968;36241641;36590171;38050708", "class_list": "", "function": "CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum., [RefSeq, PubMed]; Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development. Publication Status: Online-Only, [RefSeq, PubMed]; Functional characterization of the homologous mouse gene, and comparison to the human protein., [RefSeq, PubMed]; Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis (By similarity). 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)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31., [RefSeq, PubMed]; This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]., [RefSeq]; Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6AI52;Q6AW89;Q8IWB5;Q8N9Y0;Q8NDE8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005814 centriole", "go_biological_process": "GO:1904951 positive regulation of establishment of protein localization;GO:0007098 centrosome cycle;GO:0045724 positive regulation of cilium assembly;GO:1903724 positive regulation of centriole elongation;GO:0010825 positive regulation of centrosome duplication", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q8N960-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31689-1", "uniprot_id": [ { "id": "DNJA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P31689", "type": "external" } ], "mass": 44868.0, "length": 397, "protein_name": "DnaJ homolog subfamily A member 1", "gene_name": "DNAJA1", "organism": "Human", "refseq_name": "dnaJ homolog subfamily A member 1 isoform 1", "refseq_ac": [ { "id": "NP_001530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001530", "type": "external" } ], "gene_names_uniprotkb": "DNAJA1; DNAJ2; HDJ2; HSJ2; HSPF4", "gene_names_refseq": "DJ-2; DNAJA1; DjA1; HDJ2; HSDJ; HSJ-2; HSJ2; HSPF4; NEDD7; hDJ-2", "protein_names_uniprotkb": "DnaJ homolog subfamily A member 1; DnaJ protein homolog 2; HSDJ; HSJ-2; Heat shock 40 kDa protein 4; Heat shock protein J2; Human DnaJ protein 2; hDj-2", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily A, member 1; dnaJ homolog subfamily A member 1 isoform 1; dnaJ homolog subfamily A member 1; dnaJ protein homolog 2; heat shock 40 kDa protein 4; heat shock protein J2; heat shock protein, DNAJ-like 2; human DnaJ protein 2; neural precursor cell expressed, developmentally down-regulated 7", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:3301); (R-HSA-3371497); (R-HSA-9841251)", "pathway_count": 3, "publication_count": 193, "publication_id_list": "10747884;10816573;11139588;11589254;11701661;11751894;12781197;13486053;14654843;14752510;1493716;15159550;15381148;15591061;15592455;15595953;16403413;17081983;17322306;17591767;17804755;17924679;18215318;18243712;18254226;18452278;18635947;18669648;18691976;18767875;19359544;19413330;19608861;19651622;19664994;19690332;19901323;20006655;20038533;20058876;20068231;20072699;20305658;21158691;21183720;21376746;21406692;21700222;21740066;21796517;22011577;22266222;22318716;22433123;22791416;23186163;23301498;23481700;23665396;24012426;24318877;24366607;24512202;24694367;24714562;24715725;25253355;25281747;25418920;25469497;25576301;25645385;26073023;26154972;26203193;26313416;26375851;26728094;26992070;27426517;27462449;27600516;27663436;27726376;27846572;27862975;27920218;28063628;28083797;28228285;28301631;28755533;28832583;28834231;28855257;28919297;29242379;29314611;29317506;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30197098;30315122;30429286;30451992;30524438;30779550;30833945;31092671;31110491;31141847;31154438;31217245;31530632;31731497;31826031;31844290;31848261;31937595;31998317;32016915;32157095;32265295;32302062;32320027;32350084;32357974;32387766;32448030;32488085;32502341;32544881;32870666;32897882;32938616;32982970;32983136;33123756;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34509645;34561969;34725712;34932366;35051231;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36241641;36284347;36291603;37217939;37938771;37977037;38309209;38665916;40914422;6645495;6891012;8157723;8282004;8334160;8334161;8455624;8560673;9192730;9464360;9464361;9667968", "class_list": "", "function": "Co-chaperone for HSPA8/Hsc70 (PubMed:10816573). Stimulates ATP hydrolysis, but not the folding of unfolded proteins mediated by HSPA1A (in vitro) (PubMed:24318877). Plays a role in protein transport into mitochondria via its role as co-chaperone. Functions as a co-chaperone for HSPA1B and negatively regulates the translocation of BAX from the cytosol to mitochondria in response to cellular stress, thereby protecting cells against apoptosis (PubMed:14752510). Promotes apoptosis in response to cellular stress mediated by exposure to anisomycin or UV (PubMed:24512202)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; DNAJA1 promotes proliferation and metastasis of breast cancer by activating mutant P53/NF-kappaB pathway., [RefSeq, PubMed]; Leveraging the Structure of DNAJA1 to Discover Novel Potential Pancreatic Cancer Therapies. Publication Status: Online-Only, [RefSeq, PubMed]; Novel insights into the post-translational modifications of Ydj1/DNAJA1 co-chaperones. Review article, [RefSeq, PubMed]; Structure and function of human DNAJA1 and its relationship to pancreatic cancer, [RefSeq, PubMed]; Therefore, we propose that DnaJA1 is co-opted by the influenza A virus to enter the nucleus and to enhance its RNA polymerase activity in an Hsp70 cochaperone-independent manner., [RefSeq, PubMed]; This gene encodes a member of the DnaJ family of proteins, which act as heat shock protein 70 cochaperones. Heat shock proteins facilitate protein folding, trafficking, prevention of aggregation, and proteolytic degradation. Members of this family are characterized by a highly conserved N-terminal J domain, a glycine/phenylalanine-rich region, four CxxCxGxG zinc finger repeats, and a C-terminal substrate-binding domain. The J domain mediates the interaction with heat shock protein 70 to recruit substrates and regulate ATP hydrolysis activity. In humans, this gene has been implicated in positive regulation of virus replication through co-option by the influenza A virus. Several pseudogenes of this gene are found on other chromosomes. [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": 6, "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": "Q5T7Q0;Q86TL9", "ec_number_list": [], "go_molecular_function": "GO:0055131 C3HC4-type RING finger domain binding;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0050750 low-density lipoprotein particle receptor binding;GO:0051082 unfolded protein binding", "go_cellular_component": "GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0051223 regulation of protein transport;GO:0070585 protein localization to mitochondrion;GO:1903748 negative regulation of establishment of protein localization to mitochondrion;GO:1905259 negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway;GO:0043065 positive regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 19.6, "record_id": "P31689-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EY1-1", "uniprot_id": [ { "id": "DNJA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EY1", "type": "external" } ], "mass": 52489.0, "length": 480, "protein_name": "DnaJ homolog subfamily A member 3, mitochondrial", "gene_name": "DNAJA3", "organism": "Human", "refseq_name": "dnaJ homolog subfamily A member 3, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001128582", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128582", "type": "external" } ], "gene_names_uniprotkb": "DNAJA3; HCA57; TID1", "gene_names_refseq": "DNAJA3; HCA57; TID1; Tid1-L; Tid1-S; hTID-1", "protein_names_uniprotkb": "DnaJ homolog subfamily A member 3, mitochondrial; DnaJ protein Tid-1; Hepatocellular carcinoma-associated antigen 57; Tumorous imaginal discs protein Tid56 homolog; hTid-1", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily A, member 3; dnaJ homolog subfamily A member 3, mitochondrial isoform 2; dnaJ homolog subfamily A member 3, mitochondrial; dnaJ protein Tid-1; hepatocellular carcinoma-associated antigen 57; tumorous imaginal discs protein Tid56 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:9093)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "10411904;11237011;11679576;12097419;12783860;17525332;23186163;23455924;25576301;25880248;25892735;28510447;28514659;28904123;29242379;29314611;29557506;29769354;30315122;31217245;31717259;31844290;32161166;32357974;33298915;33912179;34087483;34171305;34357683;34405274;34725712;35051231;35494241;35651334;36010968;36215666;36241641;36581221;37938771;40914422;9683573", "class_list": "", "function": "Modulates apoptotic signal transduction or effector structures within the mitochondrial matrix. Affect cytochrome C release from the mitochondria and caspase 3 activation, but not caspase 8 activation. Isoform 1 increases apoptosis triggered by both TNF and the DNA-damaging agent mytomycin C; in sharp contrast, isoform 2 suppresses apoptosis. Can modulate IFN-gamma-mediated transcriptional activity. Isoform 2 may play a role in neuromuscular junction development as an effector of the MUSK signaling pathway., [UniProtKB]; Structural resemblance of the DNAJA-family protein, Tid1, to the DNAJB-family Hsp40., [RefSeq, PubMed]; This gene encodes a member of the DNAJ/Hsp40 protein family. DNAJ/Hsp40 proteins stimulate the ATPase activity of Hsp70 chaperones and play critical roles in protein folding, degradation, and multimeric complex assembly. The encoded protein is localized to mitochondria and mediates several cellular processes including proliferation, survival and apoptotic signal transduction. The encoded protein also plays a critical role in tumor suppression through interactions with oncogenic proteins including ErbB2 and the p53 tumor suppressor protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2RAJ5;B4DI33;E7ES32;O75472;Q8WUJ6;Q8WXJ3;Q96D76;Q96IV1;Q9NYH8", "ec_number_list": [], "go_molecular_function": "GO:0005133 type II interferon receptor binding;GO:0005102 signaling receptor binding;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007528 neuromuscular junction development;GO:0008285 negative regulation of cell population proliferation;GO:0043065 positive regulation of apoptotic process;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q96EY1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14921-1", "uniprot_id": [ { "id": "ETS1_HUMAN", "url": "https://www.uniprot.org/uniprot/P14921", "type": "external" } ], "mass": 50408.0, "length": 441, "protein_name": "Protein C-ets-1", "gene_name": "ETS1", "organism": "Human", "refseq_name": "protein C-ets-1 isoform 1", "refseq_ac": [ { "id": "NP_001137292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137292", "type": "external" } ], "gene_names_uniprotkb": "ETS1; EWSR2", "gene_names_refseq": "ETS-1; ETS1; EWSR2; c-ets-1; p54", "protein_names_uniprotkb": "Protein C-ets-1; p54", "protein_names_refseq": "Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1; protein C-ets-1 isoform 1; protein C-ets-1; v-ets avian erythroblastosis virus E2 oncogene homolog 1; v-ets avian erythroblastosis virus E26 oncogene homolog 1", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:2113); (R-HSA-2559585); (R-HSA-9976102)", "pathway_count": 3, "publication_count": 119, "publication_id_list": "10358095;10698492;11234019;11237011;11782450;11883935;11909962;11948414;12048211;12475968;12971829;14729966;15247905;15572696;15592455;15592518;1614856;16211008;17401458;18566588;18991276;19377509;19608861;19690332;20361728;20378371;20435626;20534573;21136679;21711453;22294049;22424782;22645359;23186163;24366607;24646888;24714562;24715725;25294825;25418920;25531327;25576301;25755297;25880248;26154972;26811146;26992070;27449293;27846572;27862975;28247944;2847145;28851877;28904123;29309620;29437277;29493099;29557506;2997781;30315122;30410026;30429286;30484775;3060801;30779550;30833945;31118072;31154438;31222486;31530632;31844290;31848261;31998317;32131547;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34023818;34171305;34211107;34509645;34561969;34932366;35051231;35561310;35580925;36241641;36284347;37938771;38725843;38759515;39002703;39138880;39159682;40914422;7588608;8231246;8521493;8552081;9333025", "class_list": "", "function": "Acts as a dominant-negative for isoform c-ETS-1A., [UniProtKB, PubMed]; Circ-PITX1 promotes non-small-cell lung cancer progression through regulating ETS1 expression via miR-615-5p., [RefSeq, PubMed]; ETS1 and RBPJ transcriptionally regulate METTL14 to suppress TGF-beta1-induced epithelial-mesenchymal transition in human bronchial epithelial cells., [RefSeq, PubMed]; ETS1 drives EGF-induced glycolytic shift and metastasis of epithelial ovarian cancer cells., [RefSeq, PubMed]; HMGA1 sensitizes esophageal squamous cell carcinoma to mTOR inhibitors through the ETS1-FKBP12 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Mechanoresponsive ETS1 causes endothelial dysfunction and arterialization in varicose veins via NOTCH4/DLL4 signaling., [RefSeq, PubMed]; This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]., [RefSeq]; Transcription factor (PubMed:10698492, PubMed:11909962). Directly controls the expression of cytokine and chemokine genes in a wide variety of different cellular contexts (PubMed:20378371). May control the differentiation, survival and proliferation of lymphoid cells (PubMed:20378371). May also regulate angiogenesis through regulation of expression of genes controlling endothelial cell migration and invasion (PubMed:15247905, PubMed:15592518)., [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": 23, "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": "A9UL17;F5GYX9;Q14278;Q16080;Q6N087;Q96AC5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0003676 nucleic acid binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0030578 PML body organization;GO:1904996 positive regulation of leukocyte adhesion to vascular endothelial cell;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006955 immune response", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "P14921-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3B820-1", "uniprot_id": [ { "id": "F161A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3B820", "type": "external" } ], "mass": 76752.0, "length": 660, "protein_name": "Protein FAM161A", "gene_name": "FAM161A", "organism": "Human", "refseq_name": "protein FAM161A isoform 1", "refseq_ac": [ { "id": "NP_001188472", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188472", "type": "external" } ], "gene_names_uniprotkb": "FAM161A", "gene_names_refseq": "FAM161A; RP28", "protein_names_uniprotkb": "Protein FAM161A", "protein_names_refseq": "FAM161A, centrosomal protein; family with sequence similarity 161 member A; protein FAM161A isoform 1; protein FAM161A; retinitis pigmentosa 28 (autosomal recessive)", "tax_id": 9606, "disease": "retinitis pigmentosa 28 (Disease Ontology:DOID:0110365)", "pathway": " (hsa:84140)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;14654843;20705278;20705279;22645359;22791751;22940612;23481700;25018096;25880248;26375851;26992070;27588451;28218747;28832583;28834231;28904123;29242379;29493099;30315122;30379171;30833945;31236346;31530632;31844290;32110738;32157095;32502341;32897882;32938616;33592498;33633747;33717175;33912179;33968037;34171305;34561969;36233334", "class_list": "", "function": "FAM161A is a microtubule-associated ciliary protein presumably involved in microtubule stabilization to maintain the microtubule tracks and/or in transport processes along microtubules in photoreceptors and other retinal cell types., [RefSeq, PubMed]; Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in ciliogenesis., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Null mutations in FAM161A are responsible for the RP28-associated autosomal-recessive retinitis pigmentosa., [RefSeq, PubMed]; These data suggest a pivotal role for FAM161A in photoreceptors and reveal that FAM161A loss-of-function mutations are a major cause of autosomal-recessive Retinitis pigmentosa., [RefSeq, PubMed]; This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after birth. Mutations in this gene cause autosomal recessive retinitis pigmentosa-28. Alternatively spliced transcript variants have been identified.[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": 0, "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": "B4DJV7;Q9H8R2", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0000235 astral microtubule;GO:0005813 centrosome;GO:0001917 photoreceptor inner segment;GO:0005814 centriole;GO:0036064 ciliary basal body", "go_biological_process": "GO:0007601 visual perception;GO:0060271 cilium assembly;GO:0044782 cilium organization;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q3B820-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVV2-1", "uniprot_id": [ { "id": "FND11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVV2", "type": "external" } ], "mass": 36526.0, "length": 318, "protein_name": "Fibronectin type III domain-containing protein 11", "gene_name": "FNDC11", "organism": "Human", "refseq_name": "fibronectin type III domain-containing protein 11", "refseq_ac": [ { "id": "NP_001306081", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306081", "type": "external" } ], "gene_names_uniprotkb": "FNDC11; C20orf195", "gene_names_refseq": "C20orf195; FNDC11", "protein_names_uniprotkb": "Fibronectin type III domain-containing protein 11", "protein_names_refseq": "fibronectin type III domain-containing protein 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:79025)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;24715725", "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q9BVV2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96SL4-1", "uniprot_id": [ { "id": "GPX7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96SL4", "type": "external" } ], "mass": 20996.0, "length": 187, "protein_name": "Protein peroxidase GPX7", "gene_name": "GPX7", "organism": "Human", "refseq_name": "glutathione peroxidase 7 precursor", "refseq_ac": [ { "id": "NP_056511", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056511", "type": "external" } ], "gene_names_uniprotkb": "GPX7; GPX6; PRO828", "gene_names_refseq": "CL683; GPX6; GPX7; GPx-7; GSHPx-7; NPGPx", "protein_names_uniprotkb": "Protein peroxidase GPX7; 5.3.4.1; CL683; GPx-7; GSHPx-7", "protein_names_refseq": "glutathione peroxidase 6; glutathione peroxidase 7 precursor; non-selenocysteine containing phospholipid hydroperoxide glutathione peroxidase", "tax_id": 9606, "disease": "Barrett's adenocarcinoma (Disease Ontology:DOID:7941); Barrett's esophagus (Disease Ontology:DOID:9206)", "pathway": " (hsa:2882); (R-HSA-3299685)", "pathway_count": 2, "publication_count": 97, "publication_id_list": "10029572;10514471;10521424;10656833;10833429;10919671;10982;11018045;11139407;11507097;11518528;11886899;11912930;12446202;12829378;12975309;15044467;15046979;15064408;15280035;15294905;15317809;15596429;15927447;16401067;16615992;1668270;16750198;16880213;17275676;17519234;1763037;17707404;18358825;18703498;18936159;19219623;19542232;19913121;1999334;20070187;20200426;20367259;20690882;2071038;21215271;21385867;21393238;21967640;22157330;22493009;22869735;22910329;23152058;23164639;23454490;23455484;23919619;24715725;25047527;25576301;26992070;28832583;29242379;31747588;31848261;32719007;32897882;32983136;33392160;34339889;3457020;34626080;35051231;35318648;3532102;35440701;3619451;3693360;38757339;5389100;60;6286671;6961438;7021796;7172448;7487923;807573;8379940;8428933;8452552;8663465;9295278;9369223;9639555;9726962;9923614", "class_list": "", "function": "Acts as an endoplasmic reticulum (ER) thiol peroxidase that maintains ER redox homeostasis and supports oxidative protein folding (PubMed:32719007). Rapidly reacts with hydrogen peroxide to form sulfenylated/disulfide intermediates and oxidizes protein disulfide isomerase (PDI) family members, promoting disulfide-bond formation (PubMed:21215271). Functions in a redox relay with ERO1A, using ERO1A-generated H(2)O(2) to drive PDI oxidation, linking peroxide detoxification to productive disulfide formation (PubMed:23919619). Protects esophageal epithelia from hydrogen peroxide-induced oxidative stress by reducing reactive oxygen species (ROS) and preventing oxidative DNA damage and double-strand breaks (PubMed:22157330)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Comprehensive analysis of epigenetics regulation, prognostic and the correlation with immune infiltrates of GPX7 in adult gliomas. Publication Status: Online-Only, [RefSeq, PubMed]; GPX7 Facilitates BMSCs Osteoblastogenesis via ER Stress and mTOR Pathway., [RefSeq, PubMed]; GPX7 reduces chondrocyte inflammation and extracellular matrix degradation triggered by IL-1beta, via a mechanism mediated by ferroptosis., [RefSeq, PubMed]; MicroRNAs mediated regulation of glutathione peroxidase 7 expression and its changes during adipogenesis., [RefSeq, PubMed]; NPGPx plays an essential role in breast cancer cells in alleviating oxidative stress generated from polyunsaturated fatty acid metabolism, [RefSeq, PubMed]; 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "O95337;Q5T501", "ec_number_list": [ { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" } ], "go_molecular_function": "GO:0004096 catalase activity;GO:0004601 peroxidase activity;GO:0004602 glutathione peroxidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0034599 cellular response to oxidative stress", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q96SL4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JB6-1", "uniprot_id": [ { "id": "LOXL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JB6", "type": "external" } ], "mass": 84483.0, "length": 756, "protein_name": "Lysyl oxidase homolog 4", "gene_name": "LOXL4", "organism": "Human", "refseq_name": "lysyl oxidase homolog 4 precursor", "refseq_ac": [ { "id": "NP_115587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115587", "type": "external" } ], "gene_names_uniprotkb": "LOXL4; LOXC", "gene_names_refseq": "LOXC; LOXL4", "protein_names_uniprotkb": "Lysyl oxidase homolog 4; 1.4.3.13; Lysyl oxidase-like protein 4; Lysyl oxidase-related protein C", "protein_names_refseq": "lysyl oxidase homolog 4 precursor; lysyl oxidase homolog 4; lysyl oxidase related C; lysyl oxidase-like 4 pseudogene; lysyl oxidase-like protein 4; lysyl oxidase-related protein C", "tax_id": 9606, "disease": "", "pathway": " (hsa:84171); (R-HSA-1566948); (R-HSA-2243919)", "pathway_count": 3, "publication_count": 47, "publication_id_list": "10198291;10936461;11292829;11313359;11481325;11691588;11691589;12211432;1237296;12894545;1348714;14551188;1484505;1567360;16906757;17081983;19729652;22842973;25576301;27600516;29557506;31222486;31844290;32157095;32488085;32502341;33968037;34565340;35051231;35289036;35580925;3595596;36284347;37074911;37235663;37814029;38047403;3992061;41816;5246001;5723342;6123066;6129847;641035;8617364;8636146;9470928", "class_list": "", "function": "Catalyzes the oxidative deamination of lysine and hydroxylysine residues in collagen and elastin, resulting in the formation of covalent cross-linkages, and the stabilization of collagen and elastin fibers., [UniProtKB, PubMed]; LAMA2 and LOXL4 are candidate FSGS genes. Publication Status: Online-Only, [RefSeq, PubMed]; LOXL4 Shuttled by Tumor Cells-derived Extracellular Vesicles Promotes Immune Escape in Hepatocellular Carcinoma by Activating the STAT1/PD-L1 Axis., [RefSeq, PubMed]; LOXL4, but not LOXL2, is the critical determinant of pathological collagen cross-linking and fibrosis in the lung., [RefSeq, PubMed]; LOXL4, with the four scavenger receptor cysteine rich domains, may also function as an active amine oxidase, [RefSeq, PubMed]; The data presented in this work might emphasize the involvement of LOXL4 in molecular processes of the genesis or progression of head and neck carcinomas., [RefSeq, PubMed]; The possibilities of LOXL4 as a prognostic marker for carcinomas. Review article, [RefSeq, PubMed]; This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [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": 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": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q5W0B3;Q96DY1;Q96PC0;Q9H6T5", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.24.19", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.19", "type": "external" }, { "id": "1.4.3.13", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.13", "type": "external" }, { "id": "1.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.-", "type": "external" } ], "go_molecular_function": "GO:0005507 copper ion binding;GO:0004720 protein-lysine 6-oxidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0016020 membrane;GO:0031012 extracellular matrix;GO:0043235 receptor complex;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030199 collagen fibril organization", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q96JB6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28482-1", "uniprot_id": [ { "id": "MK01_HUMAN", "url": "https://www.uniprot.org/uniprot/P28482", "type": "external" } ], "mass": 41390.0, "length": 360, "protein_name": "Mitogen-activated protein kinase 1", "gene_name": "MAPK1", "organism": "Human", "refseq_name": "mitogen-activated protein kinase 1", "refseq_ac": [ { "id": "NP_002736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002736", "type": "external" } ], "gene_names_uniprotkb": "MAPK1; ERK2; PRKM1; PRKM2", "gene_names_refseq": "ERK-2; ERK2; ERK; ERT1; MAPK1; MAPK2; NS13; P42MAPK; PRKM1; PRKM2; p38; p40; p41mapk; p41; p42-MAPK", "protein_names_uniprotkb": "Mitogen-activated protein kinase 1; 2.7.11.24; ERK-2; ERT1; Extracellular signal-regulated kinase 2; MAP kinase 1; MAP kinase 2; MAP kinase isoform p42; MAPK 1; MAPK 2; Mitogen-activated protein kinase 2; p42-MAPK", "protein_names_refseq": "MAP kinase 1; MAP kinase 2; MAPK 2; extracellular signal-regulated kinase 2; mitogen-activated protein kinase 1; mitogen-activated protein kinase 2; protein tyrosine kinase ERK2", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); renal fibrosis (Disease Ontology:DOID:0050855); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); withdrawal disorder (Disease Ontology:DOID:0060001); autism spectrum disorder (Disease Ontology:DOID:0060041); chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515); Noonan syndrome 13 (Disease Ontology:DOID:0112161); Alzheimer's disease (Disease Ontology:DOID:10652); portal hypertension (Disease Ontology:DOID:10762); gastric ulcer (Disease Ontology:DOID:10808); urethral obstruction (Disease Ontology:DOID:12577); velocardiofacial syndrome (Disease Ontology:DOID:12583); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); thyroid cancer (Disease Ontology:DOID:1781); melanoma (Disease Ontology:DOID:1909); colon cancer (Disease Ontology:DOID:219); colon adenocarcinoma (Disease Ontology:DOID:234); prostate adenocarcinoma (Disease Ontology:DOID:2526); morphine dependence (Disease Ontology:DOID:2560); endometrial adenocarcinoma (Disease Ontology:DOID:2870); endometrial carcinoma (Disease Ontology:DOID:2871); middle cerebral artery infarction (Disease Ontology:DOID:3525); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); coronary restenosis (Disease Ontology:DOID:4247); Weissenbacher-Zweymuller syndrome (Disease Ontology:DOID:4258); renal cell carcinoma (Disease Ontology:DOID:4450); ureteral obstruction (Disease Ontology:DOID:5199); kidney disease (Disease Ontology:DOID:557); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); childhood pilocytic astrocytoma (Disease Ontology:DOID:6812); hepatocellular carcinoma (Disease Ontology:DOID:684); cocaine abuse (Disease Ontology:DOID:809); vascular dementia (Disease Ontology:DOID:8725); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:5594); (R-HSA-111995); (R-HSA-112409); (R-HSA-112411); (R-HSA-1181150); (R-HSA-1295596); (R-HSA-1502540); (R-HSA-162658); (R-HSA-170968); (R-HSA-198753); (R-HSA-202670); (R-HSA-2029482); (R-HSA-2173795); (R-HSA-2173796); (R-HSA-2559580); (R-HSA-2559582); (R-HSA-2559585); (R-HSA-2871796); (R-HSA-3371453); (R-HSA-375165); (R-HSA-437239); (R-HSA-444257); (R-HSA-445144); (R-HSA-450341); (R-HSA-456926); (R-HSA-5654726); (R-HSA-5654727); (R-HSA-5654732); (R-HSA-5654733); (R-HSA-5663213); (R-HSA-5668599); (R-HSA-5673001); (R-HSA-5674135); (R-HSA-5674499); (R-HSA-5675221); (R-HSA-6798695); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-6811558); (R-HSA-74749); (R-HSA-877300); (R-HSA-879415); (R-HSA-881907); (R-HSA-8939211); (R-HSA-8940973); (R-HSA-8943724); (R-HSA-9627069); (R-HSA-9634635); (R-HSA-9634638); (R-HSA-9635465); (R-HSA-9649948); (R-HSA-9652169); (R-HSA-9652817); (R-HSA-9656223); (R-HSA-9664422); (R-HSA-9725371); (R-HSA-9732724); (R-HSA-9764725); (R-HSA-9768919); (R-HSA-982772); (R-HSA-9842640); (R-HSA-9856649)", "pathway_count": 64, "publication_count": 1114, "publication_id_list": 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"class_list": "", "function": "Acts as a transcriptional repressor. Binds to a [GC]AAA[GC] consensus sequence. Repress the expression of interferon gamma-induced genes. Seems to bind to the promoter of CCL5, DMP1, IFIH1, IFITM1, IRF7, IRF9, LAMP3, OAS1, OAS2, OAS3 and STAT1. Transcriptional activity is independent of kinase activity., [UniProtKB, PubMed]; CARM1 phosphorylation at S595 by p38gamma MAPK drives ROS-mediated cellular senescence., [RefSeq, PubMed]; Deubiquitination of CIB1 by USP14 promotes lenvatinib resistance via the PAK1-ERK1/2 axis in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; ERK2 acts as a transcriptional repressor for interferon gamma-induced genes., [RefSeq, PubMed]; MAZ promotes thyroid cancer progression by driving transcriptional reprogram and enhancing ERK1/2 activation., [RefSeq, PubMed]; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade also plays a role in initiation and regulation of meiosis, mitosis, and postmitotic functions in differentiated cells by phosphorylating a number of transcription factors. About 160 substrates have already been discovered for ERKs. Many of these substrates are localized in the nucleus, and seem to participate in the regulation of transcription upon stimulation. However, other substrates are found in the cytosol as well as in other cellular organelles, and those are responsible for processes such as translation, mitosis and apoptosis. Moreover, the MAPK/ERK cascade is also involved in the regulation of the endosomal dynamics, including lysosome processing and endosome cycling through the perinuclear recycling compartment (PNRC); as well as in the fragmentation of the Golgi apparatus during mitosis. The substrates include transcription factors (such as ATF2, BCL6, ELK1, ERF, FOS, HSF4 or SPZ1), cytoskeletal elements (such as CANX, CTTN, GJA1, MAP2, MAPT, PXN, SORBS3 or STMN1), regulators of apoptosis (such as BAD, BTG2, CASP9, DAPK1, IER3, MCL1 or PPARG), regulators of translation (such as EIF4EBP1 and FXR1) and a variety of other signaling-related molecules (like ARHGEF2, DCC, FRS2, GLI1 or GRB10) (PubMed:35831023). Protein kinases (such as RAF1, RPS6KA1/RSK1, RPS6KA3/RSK2, RPS6KA2/RSK3, RPS6KA6/RSK4, SYK, MKNK1/MNK1, MKNK2/MNK2, RPS6KA5/MSK1, RPS6KA4/MSK2, MAPKAPK3 or MAPKAPK5) and phosphatases (such as DUSP1, DUSP4, DUSP6 or DUSP16) are other substrates which enable the propagation the MAPK/ERK signal to additional cytosolic and nuclear targets, thereby extending the specificity of the cascade. Mediates phosphorylation of TPR in response to EGF stimulation. May play a role in the spindle assembly checkpoint. Phosphorylates PML and promotes its interaction with PIN1, leading to PML degradation. Phosphorylates CDK2AP2 (By similarity). Phosphorylates phosphoglycerate kinase PGK1 under hypoxic conditions to promote its targeting to the mitochondrion and suppress the formation of acetyl-coenzyme A from pyruvate (PubMed:26942675). Phosphorylates GJA1 at 'Ser-279' and 'Ser-282' resulting in an increase in GJA1 ubiquitination and ultimately lysosomal degradation (By similarity). Acts as a positive regulator of smoothened signaling by mediating phosphorylation of GLI1 in response to smoothened activation, promoting its dissociation from SUFU inhibitor and translocation to the nucleus (PubMed:35831023)., [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]; Temporal variation in p38-mediated regulation of DUX4 in facioscapulohumeral muscular dystrophy. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The activation of this kinase requires its phosphorylation by upstream kinases. Upon activation, this kinase translocates to the nucleus of the stimulated cells, where it phosphorylates nuclear targets. One study also suggests that this protein acts as a transcriptional repressor independent of its kinase activity. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Two alternatively spliced transcript variants encoding the same protein, but differing in the UTRs, have been reported for this gene. [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": 25, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 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DNA binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP 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:0072584 caveolin-mediated endocytosis;GO:2000641 regulation of early endosome to late endosome transport;GO:0038127 ERBB signaling pathway;GO:0006351 DNA-templated transcription;GO:0006468 protein phosphorylation", "synthesized_glycan_count": 0, "hit_score": 111.7, "record_id": "P28482-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P45984-1", "uniprot_id": [ { "id": "MK09_HUMAN", "url": "https://www.uniprot.org/uniprot/P45984", "type": "external" } ], "mass": 48139.0, "length": 424, "protein_name": "Mitogen-activated protein kinase 9", "gene_name": "MAPK9", "organism": "Human", "refseq_name": "mitogen-activated protein kinase 9 isoform JNK2 gamma", "refseq_ac": [ { "id": "NP_001128516", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128516", "type": "external" } ], "gene_names_uniprotkb": "MAPK9; JNK2; PRKM9; SAPK1A", "gene_names_refseq": "JNK-55; JNK2ALPHA; JNK2A; JNK2BETA; JNK2B; JNK2; MAPK9; PRKM9; SAPK1a; SAPK; p54aSAPK; p54a", "protein_names_uniprotkb": "Mitogen-activated protein kinase 9; 2.7.11.24; JNK-55; MAP kinase 9; MAPK 9; SAPK1a; Stress-activated protein kinase 1a; Stress-activated protein kinase JNK2; c-Jun N-terminal kinase 2", "protein_names_refseq": "MAP kinase 9; MAPK 9; c-Jun N-terminal kinase 2; c-Jun kinase 2; mitogen-activated protein kinase 9 isoform JNK2 gamma; stress-activated protein kinase 1a; stress-activated protein kinase JNK2", "tax_id": 9606, "disease": "pre-malignant neoplasm (Disease Ontology:DOID:0060071); Alzheimer's disease (Disease Ontology:DOID:10652); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:5601); (R-HSA-2559580); (R-HSA-2871796); (R-HSA-450321); (R-HSA-450341); (R-HSA-9725370)", "pathway_count": 6, "publication_count": 259, "publication_id_list": "10026222;10216106;10347217;10376527;10395673;10523831;10556217;10702393;10706082;10706887;10722742;10772813;10871633;10878576;10934142;11007481;11062067;11110708;11237011;11278486;11280786;11306453;11310834;11340169;11504915;11564866;11751994;11804587;11850821;11943732;11988758;12112524;12134156;12185581;12189133;12193592;12421820;12424201;12435631;12670394;12750159;12800156;12808055;12920229;12934099;13130464;14507994;14532106;14962911;15169778;15208656;15287722;15374880;15548136;15563468;15588951;15693750;15805466;15837794;15866172;15895073;15911620;15998799;16153436;16153455;16161041;16170336;16186825;16337592;16436515;16825495;16826196;16871283;16939498;17086210;17189706;17210787;17254968;17255097;17332741;17344414;17344846;17353907;17395714;17416736;17483340;17525747;17540168;17625570;17761173;17765224;17825402;17875713;17875933;18097461;18365017;18452557;18593892;18594010;18701132;18724359;18793328;18801372;18923523;18923524;18923525;19054851;19124833;19290929;19451217;19451218;19456272;19459784;19462008;19528227;19574218;19592646;19675674;19806201;19909365;20454865;20595622;21110917;21134980;21164297;21213368;21364637;21415216;21494621;21596819;21656749;21838707;21847362;21986495;22020331;22249260;22325352;22327622;22336108;22347464;22441692;22570254;22658521;22683641;22730327;23104988;23139213;23201355;23239810;23301498;23661334;23957430;24060861;24445538;24475247;24496003;24518094;24613930;24715725;24736082;25342631;25393796;25418920;25421750;25576301;25813404;25921060;26001147;26062823;26154972;26301689;26992070;27245569;27573755;27698876;27846572;27862975;27874193;27920218;28089251;28218747;28404650;28659337;28741662;28832583;28834231;28904123;29455642;29493099;29508533;29741879;29786170;29873274;30131584;30599894;30692217;31366041;31668396;31844290;32157095;32502341;33141586;33298915;33592498;33791043;33912179;33936100;33968037;34048572;34087483;34171305;36010968;37957865;38159171;38163874;39169203;7535770;7588633;7816143;7824924;7855889;7859739;7969172;7997270;8001816;8001819;8078588;8259215;8319905;8493579;8533096;8622669;8622688;8626550;8633037;8654373;8663278;8673706;8702662;8741839;8774846;8846784;8974401;8986718;8995445;9030721;9099726;9162092;9195981;9199344;9529249;9564042;9628874;9639556;9768359;9819383;9824166;9890973;9989831", "class_list": "", "function": "Circ_MAPK9 promotes STAT3 and LDHA expression by silencing miR-642b-3p and affects the progression of hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; JNK2 Promotes Progression of Esophageal Squamous Cell Carcinoma via Inhibiting Axin2., [RefSeq, PubMed]; JNK2-MMP-9 axis facilitates the progression of intracranial aneurysms. Erratum:[Sci Rep. 2025 Sep 18;15(1):32593. doi: 10.1038/s41598-025-17846-w. PMID: 40968147] Publication Status: Online-Only, [RefSeq, PubMed]; MAPK9 isoforms display different binding patterns: alpha-1 and alpha-2 preferentially bind to JUN, whereas beta-1 and beta-2 bind to ATF2. However, there is no correlation between binding and phosphorylation, which is achieved at about the same efficiency by all isoforms. JUNB is not a substrate for JNK2 alpha-2, and JUND binds only weakly to it., [UniProtKB]; Overexpression of circZNF720 Inhibits Hepatocellular Carcinoma Progression by Regulating miR-421/MAPK9., [RefSeq, PubMed]; Responds to activation by environmental stress and pro-inflammatory cytokines by phosphorylating a number of transcription factors, and thus regulates transcriptional activity., [UniProtKB, UniProtKB]; Serine/threonine-protein kinase involved in various processes such as cell proliferation, differentiation, migration, transformation and programmed cell death (PubMed:10376527, PubMed:15805466, PubMed:17525747, PubMed:19675674, PubMed:20595622, PubMed:21364637, PubMed:22441692, PubMed:34048572). Extracellular stimuli such as pro-inflammatory cytokines or physical stress stimulate the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK9/JNK2 (PubMed:10376527, PubMed:15805466, PubMed:17525747, PubMed:19675674, PubMed:20595622, PubMed:21364637, PubMed:22441692, PubMed:34048572). In turn, MAPK9/JNK2 phosphorylates a number of transcription factors, primarily components of AP-1 such as JUN and ATF2 and thus regulates AP-1 transcriptional activity (PubMed:10376527). In response to oxidative or ribotoxic stresses, inhibits rRNA synthesis by phosphorylating and inactivating the RNA polymerase 1-specific transcription initiation factor RRN3 (PubMed:15805466). Promotes stressed cell apoptosis by phosphorylating key regulatory factors including TP53 and YAP1 (PubMed:17525747, PubMed:21364637). In T-cells, MAPK8 and MAPK9 are required for polarized differentiation of T-helper cells into Th1 cells (PubMed:19290929). Upon T-cell receptor (TCR) stimulation, is activated by CARMA1, BCL10, MAP2K7 and MAP3K7/TAK1 to regulate JUN protein levels (PubMed:19290929). Plays an important role in the osmotic stress-induced epithelial tight-junctions disruption (PubMed:20595622). When activated, promotes beta-catenin/CTNNB1 degradation and inhibits the canonical Wnt signaling pathway (PubMed:19675674). Also participates in neurite growth in spiral ganglion neurons (By similarity). Phosphorylates the CLOCK-BMAL1 heterodimer and plays a role in the regulation of the circadian clock (PubMed:22441692). Phosphorylates POU5F1, which results in the inhibition of POU5F1's transcriptional activity and enhances its proteasomal degradation (By similarity). Phosphorylates ALKBH5 in response to reactive oxygen species (ROS), promoting ALKBH5 sumoylation and inactivation (PubMed:34048572)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase targets specific transcription factors, and thus mediates immediate-early gene expression in response to various cell stimuli. It is most closely related to MAPK8, both of which are involved in UV radiation induced apoptosis, thought to be related to the cytochrome c-mediated cell death pathway. This gene and MAPK8 are also known as c-Jun N-terminal kinases. This kinase blocks the ubiquitination of tumor suppressor p53, and thus it increases the stability of p53 in nonstressed cells. Studies of this gene's mouse counterpart suggest a key role in T-cell differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Sep 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": 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": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K0S3;B5BU66;B5M0B4;D3DWQ8;D3DWQ9;Q15708;Q15710;Q15711;Q8N5C5", "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:0004712 protein serine/threonine/tyrosine kinase activity;GO:0004705 JUN kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0010628 positive regulation of gene expression;GO:0007254 JNK cascade;GO:0010744 positive regulation of macrophage derived foam cell differentiation;GO:0031398 positive regulation of protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 26.4, "record_id": "P45984-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14566-1", "uniprot_id": [ { "id": "MCM6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14566", "type": "external" } ], "mass": 92889.0, "length": 821, "protein_name": "DNA replication licensing factor MCM6", "gene_name": "MCM6", "organism": "Human", "refseq_name": "DNA replication licensing factor MCM6", "refseq_ac": [ { "id": "NP_005906", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005906", "type": "external" } ], "gene_names_uniprotkb": "MCM6", "gene_names_refseq": "MCG40308; MCM6; Mis5; P105MCM", "protein_names_uniprotkb": "DNA replication licensing factor MCM6; 3.6.4.12; p105MCM", "protein_names_refseq": "DNA replication licensing factor MCM6; MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe); minichromosome maintenance deficient (mis5, S. pombe) 6", "tax_id": 9606, "disease": "lactose intolerance (Disease Ontology:DOID:10604)", "pathway": " (hsa:4175); (R-HSA-176187); (R-HSA-176974); (R-HSA-68867); (R-HSA-68949); (R-HSA-68962); (R-HSA-69052)", "pathway_count": 7, "publication_count": 208, "publication_id_list": 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"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 (PubMed:16899510, PubMed:32453425, PubMed:34694004, PubMed:34700328, PubMed:35585232, PubMed:9305914). The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity (PubMed:32453425)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues., [RefSeq, PubMed]; High MCM6 expression promotes proliferation and correlates with poor prognosis in triple-negative breast cancer., [RefSeq, PubMed]; In silico functional, structural and pathogenicity analysis of missense single nucleotide polymorphisms in human MCM6 gene. Publication Status: Online-Only, [RefSeq, PubMed]; MCM6 Inhibits Decidualization via Cross-Talking with ERK Pathway in Human Endometrial Stromal Cells., [RefSeq, PubMed]; The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the 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. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. Single nucleotide polymorphisms in the intron regions of this gene are associated with differential transcriptional activation of the promoter of the neighboring lactase gene and, thereby, influence lactose intolerance in early adulthood. [provided by RefSeq, May 2012]., [RefSeq]; UBE3A and MCM6 synergistically regulate the proliferation and migration of lung adenocarcinoma 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": 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": 5, "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": "B2R6H2;Q13504;Q99859", "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:0005524 ATP binding;GO:0042802 identical protein binding;GO:0016887 ATP hydrolysis activity;GO:0003697 single-stranded DNA binding;GO:0003678 DNA helicase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000781 chromosome, telomeric region;GO:0042555 MCM complex;GO:0071162 CMG complex", "go_biological_process": "GO:0030174 regulation of DNA-templated DNA replication initiation;GO:0006260 DNA replication;GO:0006270 DNA replication initiation;GO:0000727 double-strand break repair via break-induced replication;GO:1902969 mitotic DNA replication", "synthesized_glycan_count": 0, "hit_score": 21.3, "record_id": "Q14566-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQA1-1", "uniprot_id": [ { "id": "MEP50_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQA1", "type": "external" } ], "mass": 36724.0, "length": 342, "protein_name": "Methylosome protein WDR77", "gene_name": "WDR77", "organism": "Human", "refseq_name": "methylosome protein WDR77 isoform 1", "refseq_ac": [ { "id": "NP_001303991", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303991", "type": "external" } ], "gene_names_uniprotkb": "WDR77; HKMT1069; MEP50; Nbla10071; WD45", "gene_names_refseq": "HKMT1069; MEP-50; MEP50; Nbla10071; WDR77; p44/Mep50; p44", "protein_names_uniprotkb": "Methylosome protein WDR77; Androgen receptor cofactor p44; MEP-50; Methylosome protein 50; WD repeat-containing protein 77; p44/Mep50", "protein_names_refseq": "WD repeat-containing protein 77; androgen receptor cofactor p44; methylosome protein 50; methylosome protein WDR77 isoform 1; methylosome protein WDR77; testis tissue sperm-binding protein Li 44a", "tax_id": 9606, "disease": "", "pathway": " (hsa:79084); (R-HSA-191859); (R-HSA-3214858)", "pathway_count": 3, "publication_count": 134, "publication_id_list": 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"class_list": "", "function": "Germ-line mutations in WDR77 predispose to familial papillary thyroid cancer., [RefSeq, PubMed]; HBx represses WDR77 to enhance HBV replication by DDB1-mediated WDR77 degradation in the liver. Publication Status: Online-Only, [RefSeq, PubMed]; HNRNPC promotes estrogen receptor-positive breast cancer cell cycle by stabilizing WDR77 mRNA in an m6A-dependent manner., [RefSeq, PubMed]; Here, we describe a novel component of the methylosome, a 50-kilodalton WD repeat protein termed methylosome protein 50 (MEP50)., [RefSeq, PubMed]; Inhibition of PRMT5/MEP50 Arginine Methyltransferase Activity Causes Cancer Vulnerability in NDRG2[low] Adult T-Cell Leukemia/Lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; Non-catalytic component of the methylosome complex, composed of PRMT5, WDR77 and CLNS1A, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins and histones (PubMed:11756452). This modification targets Sm proteins to the survival of motor neurons (SMN) complex for assembly into small nuclear ribonucleoprotein core particles. Might play a role in transcription regulation. The methylosome complex also 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 (PubMed:23071334)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The protein encoded by this gene is an androgen receptor coactivator that forms a complex with protein arginine methyltransferase 5, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins. The encoded protein may be involved in the early stages of prostate cancer, with most of the protein being nuclear-localized in benign cells but cytoplasmic in cancer cells. Several transcript variants encoding different isoforms have been found for this gene. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B3KMW6;B4DP38;Q3LID2;Q53FU2;Q6JZZ5;Q96GK4;Q9BWY3", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008327 methyl-CpG binding;GO:1990756 ubiquitin-like ligase-substrate adaptor 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:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0000387 spliceosomal snRNP assembly", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q9BQA1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14247-1", "uniprot_id": [ { "id": "SRC8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14247", "type": "external" } ], "mass": 61586.0, "length": 550, "protein_name": "Src substrate cortactin", "gene_name": "CTTN", "organism": "Human", "refseq_name": "src substrate cortactin isoform c", "refseq_ac": [ { "id": "NP_001171669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171669", "type": "external" } ], "gene_names_uniprotkb": "CTTN; EMS1", "gene_names_refseq": "CTTN; EMS1", "protein_names_uniprotkb": "Src substrate cortactin; Amplaxin; Oncogene EMS1", "protein_names_refseq": "amplaxin; ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate); epididymis secretory sperm binding protein; oncogene EMS1; src substrate cortactin isoform c", "tax_id": 9606, "disease": "", "pathway": " (hsa:2017); (R-HSA-5627123); (R-HSA-8856828)", "pathway_count": 3, "publication_count": 342, "publication_id_list": "10.1101/2023.09.13.557529;10047984;10092231;10470034;10535736;10537323;10542231;10559856;10559861;10559924;10625686;10639334;10748018;10766823;10921917;10975528;11082044;11231140;11237011;11239472;11278486;11470803;11516654;11517213;11532990;11577110;11804587;11877457;11877461;11889126;12057195;12151401;12198493;12213833;12408982;12447393;12453877;12601080;12847086;12925758;12952949;14555962;14580336;14581451;14617351;14622578;14622579;15000491;15144186;15252009;15260957;15302935;15318165;1532244;15339664;15378014;15502812;15502813;15561106;15574754;15592455;15649145;15703209;15802264;15895077;15916959;15951569;16103228;16204230;16212419;16215232;16326391;16410077;16497976;16516836;16636290;16707488;16798879;16825425;16854367;16880396;16903783;16905744;16964243;17016520;17018281;17035995;17081983;17158794;17287340;17306540;17322306;17389395;17487921;17494869;17512409;17540576;17609109;17681954;17762867;17765681;17959782;17978091;18077418;18083107;18088087;18093523;18212344;18220336;18387954;18388313;18452278;1847920;18491316;18669648;18691976;18707149;18767875;18790740;18829550;18981233;19038333;19092055;19146815;19287005;19289088;19296720;19413330;19415658;19458185;19513348;19536138;19562805;19575674;19603039;19608861;19651622;19664994;19664995;19690332;19691289;19696796;19713939;19776351;19809571;20033059;20041195;20058876;20059951;20068231;20166139;20211604;20230923;20231386;20363754;20428113;20444238;20448150;20708589;20826345;20861316;20946875;21079800;21098037;2115402;21187331;21278753;21296879;21316588;21406692;21445324;21482805;21499258;21613550;21655441;21779028;21841790;21883765;21927000;21927001;21962517;22078467;22099461;22233676;22484487;22505844;22761768;22815487;22863004;22952966;23038781;23144454;23161543;23186163;23297414;23301498;23423155;23519612;23536704;23552693;23823722;23861397;23891661;24130457;24166499;24186068;24275569;24465712;24477238;24574519;24581490;24789820;24859002;24867096;24966051;25107275;25114211;25247763;25303366;25341920;25505266;25576301;25645385;25682866;25772245;26042225;26103422;26154972;26403691;26447611;26490115;26992070;27339664;27363897;27397612;27600516;27705916;27824079;27846572;27862975;28287395;28657654;28832583;28904123;28983097;29133485;29237092;29242379;29314611;29393594;29508533;29557506;29643476;29786170;29789417;30059200;30098172;30285892;30379171;30397120;30429286;30484775;30562756;30620550;30779550;3079756;30833945;30976201;31154438;31373491;31492838;31667337;31727638;31844290;31848261;32119511;32157095;32161166;32363035;32369440;32488085;32844749;32897882;32938616;32983136;33214551;33298915;33592498;33633747;33912179;33968037;33981976;34019948;34087483;34171305;34725712;35051231;35132862;35251023;35254053;35318648;35513511;35580925;36215666;36241641;36284347;36581221;36790139;37039823;37541260;37938771;38126170;38353696;38358895;3839510;38665916;39302247;39531497;39534244;39894887;40136647;40307207;40596516;41350704;6146630;7519605;7559638;7877694;8107774;8474448;8524399;8552632;9092476;9100026;9427626;9428629;9535855;9635431;9683637;9722593;9736607;9748248", "class_list": "", "function": "A MAP1B-cortactin-Tks5 axis regulates TNBC invasion and tumorigenesis., [RefSeq, PubMed]; Binding of USP4 to cortactin enhances cell migration in HCT116 human colon cancer cells., [RefSeq, PubMed]; Contributes to the organization of the actin cytoskeleton and cell shape (PubMed:21296879). Plays a role in the formation of lamellipodia and in cell migration. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Through its interaction with CTTNBP2, involved in the regulation of neuronal spine density (By similarity). Plays a role in focal adhesion assembly and turnover (By similarity). In complex with ABL1 and MYLK regulates cortical actin-based cytoskeletal rearrangement critical to sphingosine 1-phosphate (S1P)-mediated endothelial cell (EC) barrier enhancement (PubMed:20861316). Plays a role in intracellular protein transport and endocytosis, and in modulating the levels of potassium channels present at the cell membrane (PubMed:17959782). Plays a role in receptor-mediated endocytosis via clathrin-coated pits (By similarity). Required for stabilization of KCNH1 channels at the cell membrane (PubMed:23144454). Plays a role in the invasiveness of cancer cells, and the formation of metastases (PubMed:16636290)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Cortactin expression in a Norwegian cohort of human papilloma virus negative oral squamous cell carcinomas of the mobile tongue., [RefSeq, PubMed]; METTL3 promotes osteogenic differentiation of human umbilical cord mesenchymal stem cells by up-regulating m6A modification of circCTTN., [RefSeq, PubMed]; Requirement of Site-Specific Tyrosine Phosphorylation of Cortactin in Retinal Neovascularization and Vascular Leakage., [RefSeq, PubMed]; This gene is overexpressed in breast cancer and squamous cell carcinomas of the head and neck. The encoded protein is localized in the cytoplasm and in areas of the cell-substratum contacts. This gene has two roles: (1) regulating the interactions between components of adherens-type junctions and (2) organizing the cytoskeleton and cell adhesion structures of epithelia and carcinoma cells. During apoptosis, the encoded protein is degraded in a caspase-dependent manner. The aberrant regulation of this gene contributes to tumor cell invasion and metastasis. Three splice variants that encode different isoforms have been identified for this gene. [provided by RefSeq, May 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": 14, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 14, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 14, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 54, "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": 15, "binding_glycan_count": 0, "secondary_ac_list": "Q8N707;Q96H99", "ec_number_list": [], "go_molecular_function": "GO:0045296 cadherin binding;GO:0070064 proline-rich region binding;GO:0005522 profilin binding;GO:0071933 Arp2/3 complex binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098871 postsynaptic actin cytoskeleton;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0098885 modification of postsynaptic actin cytoskeleton;GO:0006886 intracellular protein transport;GO:0007165 signal transduction;GO:0045987 positive regulation of smooth muscle contraction;GO:0048812 neuron projection morphogenesis", "synthesized_glycan_count": 0, "hit_score": 36.0, "record_id": "Q14247-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13569-1", "uniprot_id": [ { "id": "TDG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13569", "type": "external" } ], "mass": 46053.0, "length": 410, "protein_name": "G/T mismatch-specific thymine DNA glycosylase", "gene_name": "TDG", "organism": "Human", "refseq_name": "G/T mismatch-specific thymine DNA glycosylase isoform 1", "refseq_ac": [ { "id": "NP_003202", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003202", "type": "external" } ], "gene_names_uniprotkb": "TDG", "gene_names_refseq": "TDG; hTDG", "protein_names_uniprotkb": "G/T mismatch-specific thymine DNA glycosylase; 3.2.2.29; Thymine-DNA glycosylase; hTDG", "protein_names_refseq": "G/T mismatch-specific thymine DNA glycosylase isoform 1; G/T mismatch-specific thymine DNA glycosylase", "tax_id": 9606, "disease": "", "pathway": " (hsa:6996); (R-HSA-110328); (R-HSA-110329); (R-HSA-110357); (R-HSA-3108214); (R-HSA-5221030)", "pathway_count": 6, "publication_count": 165, "publication_id_list": "10074426;10574707;10882850;10930409;11056019;11139613;11160897;11237011;11792325;11889051;11904416;12097317;12140329;12456671;12519758;12718543;15175327;15341901;15355988;15479784;15608651;15713479;15823533;15829507;15940266;15959518;16030353;16221681;16478998;16608850;16626738;16688858;16810316;17537817;17693435;18587051;18625722;18691969;18708356;18805789;19287951;19372391;19596686;19622798;19706679;19779455;19956565;20016594;20016603;20190268;20639862;20705237;21057493;21098080;21147198;21284855;21321204;21496894;21550342;21722948;21817016;21862836;22327402;22508508;22569481;22573813;22635276;22645359;22661230;22751501;22848106;22962365;23403289;23548903;23727577;23750026;23812591;23871147;24027577;24315485;24366607;24714562;24715725;24782567;25086253;25114211;25218447;25576301;25645385;25755297;25772364;26095805;26154972;26992070;27354518;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29508533;29557506;29786170;29789417;30192525;30315122;30410026;30524438;30779550;30833945;31217245;31530632;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33392160;33537174;33592498;33633747;33691108;33733652;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34561969;34681690;34932366;35051231;35414793;35580925;36010968;36215666;36241641;37217939;37224078;37938771;39455577;8127859;8218289;8407958;8662714;9200707;9412458;9452416;9705289;9724657;9756909;9811839;9885291;9890904", "class_list": "", "function": "Comprehensive analysis of the prognostic value and biological function of TDG in hepatocellular carcinoma., [RefSeq, PubMed]; DNA glycosylase that plays a key role in active DNA demethylation: specifically recognizes and binds 5-formylcytosine (5fC) and 5-carboxylcytosine (5caC) in the context of CpG sites and mediates their excision through base-excision repair (BER) to install an unmethylated cytosine. Cannot remove 5-hydroxymethylcytosine (5hmC). According to an alternative model, involved in DNA demethylation by mediating DNA glycolase activity toward 5-hydroxymethyluracil (5hmU) produced by deamination of 5hmC. Also involved in DNA repair by acting as a thymine-DNA glycosylase that mediates correction of G/T mispairs to G/C pairs: in the DNA of higher eukaryotes, hydrolytic deamination of 5-methylcytosine to thymine leads to the formation of G/T mismatches. Its role in the repair of canonical base damage is however minor compared to its role in DNA demethylation. It is capable of hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of the DNA and a mispaired thymine. In addition to the G/T, it can remove thymine also from C/T and T/T mispairs in the order G/T >> C/T > T/T. It has no detectable activity on apyrimidinic sites and does not catalyze the removal of thymine from A/T pairs or from single-stranded DNA. It can also remove uracil and 5-bromouracil from mispairs with guanine., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Direct and Base Excision Repair-Mediated Regulation of a GC-Rich cis-Element in Response to 5-Formylcytosine and 5-Carboxycytosine. Publication Status: Online-Only, [RefSeq, PubMed]; Reversible chromatin condensation by the DNA repair and demethylation factor thymine DNA glycosylase., [RefSeq, PubMed]; TDG suppresses the migration and invasion of human colon cancer cells via the DNMT3A/TIMP2 axis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. [provided by RefSeq, Jul 2008]., [RefSeq]; Thymine DNA glycosylase combines sliding, hopping, and nucleosome interactions to efficiently search for 5-formylcytosine. 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": 9, "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": "Q8IUZ6;Q8IZM3", "ec_number_list": [ { "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": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.2.2.29", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.29", "type": "external" } ], "go_molecular_function": "GO:0043739 G/U mismatch-specific uracil-DNA glycosylase activity;GO:0000287 magnesium ion binding;GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0003684 damaged DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016605 PML body", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006284 base-excision repair;GO:0040029 epigenetic regulation of gene expression;GO:0045995 regulation of embryonic development;GO:0006285 base-excision repair, AP site formation", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "Q13569-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N1K5-1", "uniprot_id": [ { "id": "THMS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N1K5", "type": "external" } ], "mass": 73452.0, "length": 641, "protein_name": "Protein THEMIS", "gene_name": "THEMIS", "organism": "Human", "refseq_name": "protein THEMIS isoform 2", "refseq_ac": [ { "id": "NP_001010923", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010923", "type": "external" } ], "gene_names_uniprotkb": "THEMIS; C6orf190; C6orf207", "gene_names_refseq": "C6orf190; C6orf207; GASP; SPOT; THEMIS1; THEMIS; TSEPA", "protein_names_uniprotkb": "Protein THEMIS; Thymocyte-expressed molecule involved in selection", "protein_names_refseq": "GRB2-associated protein; protein THEMIS isoform 2; protein THEMIS; signaling phosphoprotein specific for T cells; thymocyte selection pathway associated; thymocyte-expressed molecule involved in selection", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589)", "pathway": " (hsa:387357)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;15144186;19597498;19597499;19690332;25418920;25548167;25810538;25880248;26154972;26992070;28218747;28250424;28832583;28904123;29242379;29437277;29493099;29557506;29786170;30315122;30410026;30620550;31020640;31844290;32004441;32157095;32357974;32488085;32983136;33298915;33968037;34357683;35008409;35051231;35580925", "class_list": "", "function": "Functional analysis of the mouse gene by knockout, and comparison of the mouse and human proteins., [RefSeq, PubMed]; Functional characterization of the homologous mouse gene. Erratum:[Nat Immunol. 2010 Jan;11(1):97], [RefSeq, PubMed]; Plays a central role in late thymocyte development by controlling both positive and negative T-cell selection. Required to sustain and/or integrate signals required for proper lineage commitment and maturation of T-cells. Regulates T-cell development through T-cell antigen receptor (TCR) signaling and in particular through the regulation of calcium influx and phosphorylation of Erk., [UniProtKB, UniProtKB]; THEMIS-SHP1 Recruitment by 4-1BB Tunes LCK-Mediated Priming of Chimeric Antigen Receptor-Redirected T Cells, [RefSeq, PubMed]; This gene encodes a protein that plays a regulatory role in both positive and negative T-cell selection during late thymocyte development. The protein functions through T-cell antigen receptor signaling, and is necessary for proper lineage commitment and maturation of T-cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]., [RefSeq]; We found that THEMIS directly regulated the catalytic activity of the tyrosine phosphatase SHP-1. Erratum:[Nat Immunol. 2017 May 18;18(6):705. doi: 10.1038/ni0617-705c. PMID: 28518157], [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": 30, "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": "A1L4F0;A8K7N1;B3KT31;B3KW32;B3KY07;F5H1J9;Q5T3C4;Q5T3C5;Q6MZT7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005911 cell-cell junction;GO:0008180 COP9 signalosome", "go_biological_process": "GO:0043383 negative T cell selection;GO:0050852 T cell receptor signaling pathway;GO:0002250 adaptive immune response;GO:0043368 positive T cell selection", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q8N1K5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RU7-1", "uniprot_id": [ { "id": "TRIB3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RU7", "type": "external" } ], "mass": 39578.0, "length": 358, "protein_name": "Tribbles homolog 3", "gene_name": "TRIB3", "organism": "Human", "refseq_name": "tribbles homolog 3 isoform 1", "refseq_ac": [ { "id": "NP_001288117", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288117", "type": "external" } ], "gene_names_uniprotkb": "TRIB3; C20orf97; NIPK; SKIP3; TRB3", "gene_names_refseq": "C20orf97; NIPK; SINK; SKIP3; TRB3; TRIB3", "protein_names_uniprotkb": "Tribbles homolog 3; Neuronal cell death-inducible putative kinase; SINK; TRB-3; p65-interacting inhibitor of NF-kappa-B", "protein_names_refseq": "TRB-3; neuronal cell death inducible putative kinase; p65-interacting inhibitor of NF-kappa-B; p65-interacting inhibitor of NF-kappaB; tribbles homolog 3 isoform 1; tribbles homolog 3", "tax_id": 9606, "disease": "glucose metabolism disease (Disease Ontology:DOID:4194)", "pathway": " (hsa:57761); (R-HSA-1257604); (R-HSA-165158); (R-HSA-1989781); (R-HSA-199418); (R-HSA-389357); (R-HSA-5218920); (R-HSA-9633012); (R-HSA-9648895)", "pathway_count": 9, "publication_count": 142, "publication_id_list": "10075701;10191262;10777541;10982836;11018027;11147812;11163539;11237011;11241327;11267664;11278486;11598301;11677247;11691921;11803464;11804587;12118000;12138205;12167717;12177166;12505311;12582161;12660731;12670391;12736262;12743605;12767043;12791994;1400365;14630918;15067378;15130092;15299019;15385533;15635043;15718470;15775988;15781252;15808505;15890450;16026328;16123373;16129579;16380219;16972786;16989641;17060906;17140605;17267404;17344846;17386267;17726049;17872950;18055463;18285520;18439422;18540824;18719978;18848529;18925875;19088433;19505541;19710929;19805105;19934321;20110263;20338997;20361218;20423929;21136679;21827948;22564745;22645359;22977230;23186163;23269699;23876217;24196956;25576301;25645385;25892735;25931127;26024233;26154972;26811146;26992070;27526673;27920218;28218747;28228285;28814160;28832583;28904123;29242379;29331515;29413899;29437277;29493099;29557506;29632046;29769354;30315122;30410026;30804176;31844290;32157095;32387766;32488085;32938616;33298915;33392160;33633747;33912179;33968037;34561969;35051231;35580925;38429254;38561354;38696945;38902892;7637810;7685352;7744773;7892212;8336711;8621607;8645147;8645157;8647822;9012850;9094314;9153226;9211906;9228007;9445477;9637919;9679957;9705280;9736715;9748239;9895304", "class_list": "", "function": "Coexpression of hNIPK inhibits activation of hNIPK promoter in response to the stress-inducing agents and to overexpressed ATF4, and thus NIPK may function as a negative feedback regulator of ATF4, [RefSeq, PubMed]; Diverse functions of Tribbles homolog 3 in cancers and its potential as a therapeutic target. Review article, [RefSeq, PubMed]; Inactive protein kinase which acts as a regulator of the integrated stress response (ISR), a process for adaptation to various stress (PubMed:15775988, PubMed:15781252). Inhibits the transcriptional activity of DDIT3/CHOP and is involved in DDIT3/CHOP-dependent cell death during ER stress (PubMed:15775988, PubMed:15781252). May play a role in programmed neuronal cell death but does not appear to affect non-neuronal cells (PubMed:15775988, PubMed:15781252). Acts as a negative feedback regulator of the ATF4-dependent transcription during the ISR: while TRIB3 expression is promoted by ATF4, TRIB3 protein interacts with ATF4 and inhibits ATF4 transcription activity (By similarity). Disrupts insulin signaling by binding directly to Akt kinases and blocking their activation (By similarity). May bind directly to and mask the 'Thr-308' phosphorylation site in AKT1 (By similarity). Interacts with the NF-kappa-B transactivator p65 RELA and inhibits its phosphorylation and thus its transcriptional activation activity (PubMed:12736262). Interacts with MAPK kinases and regulates activation of MAP kinases (PubMed:15299019). Can inhibit APOBEC3A editing of nuclear DNA (PubMed:22977230)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Increased transcription as well as altered usage of 5'-UTR variants contributes to the upregulation of hTRB3 protein synthesis in stressful conditions., [RefSeq, PubMed]; Results suggest that TRB3, a mammalian homolog of Drosophila tribbles, promotes glucose output from liver under fasting conditions by binding to and interfering with Akt phosphorylation in response to residual insulin signaling [Trb3 tribbles homolog 3], [RefSeq, PubMed]; SINK specifically interacted with the NF-kappaB transactivator p65 and inhibited p65 phosphorylation, [RefSeq, PubMed]; TRIB3 promotes malignancy of head and neck squamous cell carcinoma via inhibiting ferroptosis. Publication Status: Online-Only, [RefSeq, PubMed]; TRIB3 promotes the growth of oral squamous cell carcinoma by regulating JNK/JUN-mediated aerobic glycolysis., [RefSeq, PubMed]; TRIB3 promotes the progression of renal cell carcinoma by upregulating the lipid droplet-associated protein PLIN2. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a putative protein kinase that is induced by the transcription factor NF-kappaB. The encoded protein is a negative regulator of NF-kappaB and can also sensitize cells to TNF- and TRAIL-induced apoptosis. In addition, this protein can negatively regulate the cell survival serine-threonine kinase AKT1. Differential promoter usage and alternate splicing result in multiple transcript variants. [provided by RefSeq, Jul 2014]., [RefSeq]; This protein, a novel Drosophila tribbles ortholog, is overexpressed in human tumors and is regulated by hypoxia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q53GU4;Q53ZW7;Q6I9Y9;Q8TAI6;Q9H5M8;Q9NUD2", "ec_number_list": [], "go_molecular_function": "GO:0055106 ubiquitin-protein transferase regulator activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0003714 transcription corepressor activity;GO:0031434 mitogen-activated protein kinase kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0046627 negative regulation of insulin receptor signaling pathway;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0010506 regulation of autophagy;GO:0032869 cellular response to insulin stimulus", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "Q96RU7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WT6-1", "uniprot_id": [ { "id": "TRI69_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WT6", "type": "external" } ], "mass": 57419.0, "length": 500, "protein_name": "E3 ubiquitin-protein ligase TRIM69", "gene_name": "TRIM69", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM69 isoform c", "refseq_ac": [ { "id": "NP_001288073", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288073", "type": "external" } ], "gene_names_uniprotkb": "TRIM69; HSD-34; HSD34; RNF36", "gene_names_refseq": "HSD-34; HSD34; RNF36; TRIM69; Trif", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM69; 2.3.2.27; RFP-like domain-containing protein trimless; RING finger protein 36; RING-type E3 ubiquitin transferase TRIM69; Tripartite motif-containing protein 69", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM69 isoform c; E3 ubiquitin-protein ligase TRIM69; RFP-like domain-containing protein trimless; RING-type E3 ubiquitin transferase TRIM69; ring finger protein 36", "tax_id": 9606, "disease": "", "pathway": " (hsa:140691); (R-HSA-983168)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "11062501;11237011;11350924;11578878;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;2261476;23131556;25880248;26375851;28832583;28904123;29242379;29786170;30142214;30844644;31375575;31578292;31844290;32983136;33021497;35051231;36251989;36423520;37739411;37864033;9380723;9668046", "class_list": "", "function": "E3 ubiquitin ligase that plays an important role in antiviral immunity by restricting different viral infections including dengue virus or vesicular stomatitis indiana virus (PubMed:23131556, PubMed:30142214, PubMed:31375575, PubMed:31578292). Ubiquitinates viral proteins such as dengue virus NS3 thereby limiting infection (PubMed:30844644). In addition, acts as a key mediator of type I interferon induced microtubule stabilization by directly associating to microtubules independently of its E3 ligase activity (PubMed:36251989). Also plays a role in cataract formation together with TP53 (PubMed:30844644). Mechanistically, inhibits UVB-induced cell apoptosis and reactive oxygen species (ROS) production by inducing TP53 ubiquitination (PubMed:30844644). Regulates centrosome dynamics and mitotic progression by ubiquitinating STK3/MST2; leading to its redistribution to the perinuclear cytoskeleton and subsequent phosphorylation by PLK1 (PubMed:37739411)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Gene and protein analysis of the mouse counterpart., [RefSeq, PubMed]; HDLBP-stabilized lncFAL inhibits ferroptosis vulnerability by diminishing Trim69-dependent FSP1 degradation in hepatocellular carcinoma., [RefSeq, PubMed]; HTRIM69 is a novel E3 ubiquitin ligase identified from human testis and may function to ubiquitinate its particular substrates during spermatogenesis., [RefSeq, PubMed]; TRIM69 suppressed the anoikis resistance and metastasis of gastric cancer through ubiquitin-proteasome-mediated degradation of PRKCD., [RefSeq, PubMed]; The TRIM69-MST2 signaling axis regulates centrosome dynamics and chromosome segregation., [RefSeq, PubMed]; This gene encodes a member of the RING-B-box-coiled-coil (RBCC) family and encodes a protein with an N-terminal RING finger motif, a PRY domain and a C-terminal SPRY domain. The mouse ortholog of this gene is specifically expressed in germ cells at the round spermatid stages during spermatogenesis and, when overexpressed, induces apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; Trim69 is a microtubule regulator that acts as a pantropic viral 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "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": "A8MX03;Q309B0;Q4G1A5;Q6W897;Q8IYY3;Q8WY16;Q8WY17", "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:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0045087 innate immune response;GO:0006915 apoptotic process;GO:0016567 protein ubiquitination;GO:0071539 protein localization to centrosome", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q86WT6-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3KQV3-1", "uniprot_id": [ { "id": "ZN792_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3KQV3", "type": "external" } ], "mass": 71577.0, "length": 632, "protein_name": "Zinc finger protein 792", "gene_name": "ZNF792", "organism": "Human", "refseq_name": "zinc finger protein 792", "refseq_ac": [ { "id": "NP_787068", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_787068", "type": "external" } ], "gene_names_uniprotkb": "ZNF792", "gene_names_refseq": "ZNF792", "protein_names_uniprotkb": "Zinc finger protein 792", "protein_names_refseq": "zinc finger protein 792", "tax_id": 9606, "disease": "", "pathway": " (hsa:126375); (R-HSA-212436)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "10.1101/2023.09.13.557529;10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;23186163;24715725;27846572;28228285;28832583;29242379;29508533;29769354;31530632;31844290;32357974;32387766;36581221;8183939;8769649;9637681;9653119", "class_list": "", "function": "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": 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": 19, "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": "B4E333;Q495L1;Q495L3;Q8N932", "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: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": 3.1, "record_id": "Q3KQV3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NC0-1", "uniprot_id": [ { "id": "ZMAT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NC0", "type": "external" } ], "mass": 23612.0, "length": 199, "protein_name": "Zinc finger matrin-type protein 2", "gene_name": "ZMAT2", "organism": "Human", "refseq_name": "zinc finger matrin-type protein 2", "refseq_ac": [ { "id": "NP_653324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653324", "type": "external" } ], "gene_names_uniprotkb": "ZMAT2", "gene_names_refseq": "Ptg-12; Snu23; ZMAT2", "protein_names_uniprotkb": "Zinc finger matrin-type protein 2", "protein_names_refseq": "zinc finger matrin-type protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:153527); (R-HSA-72163)", "pathway_count": 2, "publication_count": 121, "publication_id_list": "10882114;11014198;11101529;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16809785;17095540;17332742;17606899;18322460;18593880;19103666;19165350;19536130;20423332;20980672;21536652;2176635;22110043;22365833;22959432;22961380;23222130;23236153;23345524;24196718;24304693;24448447;24714562;24737827;24914973;25555158;2558966;25772364;26154972;26385511;26420826;26728094;26969736;26992070;27377154;27459055;27683217;27846572;27920218;28062851;28063628;28076346;28502770;28649982;28781166;28832583;28834231;28904123;29242379;29301961;29360106;29361316;29393594;29493099;29508533;29557506;29632046;29632711;2963332;29786170;30315277;30484775;30705154;30728453;30765414;30779550;30833945;30975767;31217245;31409651;31844290;31848261;32005145;32157095;32179686;32265295;32329775;32494006;32502341;32938616;32983136;33243851;33446560;33717175;33981976;34087483;34171305;34301950;34822310;34932366;35051231;35318648;35385551;35580925;36241641;3757028;37938771;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Involved in pre-mRNA splicing as a component of the spliceosome., [UniProtKB, PubMed]; Zmat2 in mammals: conservation and diversification among genes and Pseudogenes. 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": 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:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0046540 U4/U6 x U5 tri-snRNP complex;GO:0071005 U2-type precatalytic spliceosome;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "Q96NC0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P32418-1", "uniprot_id": [ { "id": "NAC1_HUMAN", "url": "https://www.uniprot.org/uniprot/P32418", "type": "external" } ], "mass": 108547.0, "length": 973, "protein_name": "Sodium/calcium exchanger 1", "gene_name": "SLC8A1", "organism": "Human", "refseq_name": "sodium/calcium exchanger 1 isoform B precursor", "refseq_ac": [ { "id": "NP_001106271", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001106271", "type": "external" } ], "gene_names_uniprotkb": "SLC8A1; CNC; NCX1", "gene_names_refseq": "NCX1; SLC8A1", "protein_names_uniprotkb": "Sodium/calcium exchanger 1; Na(+)/Ca(2+)-exchange protein 1; Solute carrier family 8 member 1", "protein_names_refseq": "Na(+)/Ca(2+)-exchange protein 1; Na+/Ca++ exchanger; Na+/Ca2+ exchanger; sodium/calcium exchanger 1 isoform B precursor; sodium/calcium exchanger 1; solute carrier family 8 (sodium/calcium exchanger), member 1; solute carrier family 8 member 1", "tax_id": 9606, "disease": "atrial fibrillation (Disease Ontology:DOID:0060224); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); status epilepticus (Disease Ontology:DOID:1824); brain ischemia (Disease Ontology:DOID:2316); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432)", "pathway": " (hsa:6546); (R-HSA-418359); (R-HSA-425561); (R-HSA-5578775)", "pathway_count": 4, "publication_count": 92, "publication_id_list": "10220561;10662833;10908415;10913253;11062458;11237011;11241183;11294880;11904675;12119109;12379639;12406570;12832055;12953268;1374913;14625281;1476165;15060069;15174025;15260953;15598648;15754088;16357253;16754674;1693919;17224452;17357072;17486119;18166528;18446792;18995841;19278978;19751721;20298697;20388710;21108950;22210847;2226863;22427649;22707725;22972900;23362265;23376057;23506867;23549614;23610579;2430951;2477373;25576301;2559024;25892735;25994790;26421717;26992070;27862975;2838329;2844759;28514659;28645727;2953725;29557506;29632046;29786170;30429286;31217245;32157095;32350084;32488085;32502341;32983136;33592498;34171305;35051231;35561310;35580925;36010968;37074453;37794011;37938771;37966164;38177313;39441737;5961668;6328127;7702581;7929371;8021246;8048567;8798450;8918259;9346285;9856482", "class_list": "", "function": "Association of polymorphisms of calcium reabsorption genes SLC12A1, KCNJ1 and SLC8A1 with colorectal adenoma., [RefSeq, PubMed]; In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004]., [RefSeq]; In-Depth Proteomic Analysis of Paraffin-Embedded Tissue Samples from Colorectal Cancer Patients Revealed TXNDC17 and SLC8A1 as Key Proteins Associated with the Disease., [RefSeq, PubMed]; LKB1-SIK2 loss drives uveal melanoma proliferation and hypersensitivity to SLC8A1 and ROS inhibition. Erratum:[EMBO Mol Med. 2024 Sep;16(9):2262-2267. doi: 10.1038/s44321-024-00114-1. PMID: 39164473], [RefSeq, PubMed]; Mediates the exchange of one Ca(2+) ion against three to four Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes (PubMed:11241183, PubMed:1374913, PubMed:1476165). Contributes to Ca(2+) transport during excitation-contraction coupling in muscle (PubMed:11241183, PubMed:1374913, PubMed:1476165). In a first phase, voltage-gated channels mediate the rapid increase of cytoplasmic Ca(2+) levels due to release of Ca(2+) stores from the endoplasmic reticulum (PubMed:11241183, PubMed:1374913, PubMed:1476165). SLC8A1 mediates the export of Ca(2+) from the cell during the next phase, so that cytoplasmic Ca(2+) levels rapidly return to baseline (PubMed:11241183, PubMed:1374913, PubMed:1476165). Required for normal embryonic heart development and the onset of heart contractions (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Structural insight into the allosteric inhibition of human sodium-calcium exchanger NCX1 by XIP and SEA0400., [RefSeq, PubMed]; Structural mechanisms of the human cardiac sodium-calcium exchanger NCX1. 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": 37, "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": "A8K6N1;D6W595;O95849;Q4QQG6;Q587I6;Q59GN4;Q9UBL8;Q9UD55;Q9UDN1;Q9UDN2;Q9UKX6", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0044325 transmembrane transporter binding;GO:0005509 calcium ion binding;GO:0005432 calcium:sodium antiporter activity;GO:0008092 cytoskeletal protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0030424 axon;GO:0030425 dendrite;GO:0043025 neuronal cell body", "go_biological_process": "GO:1902532 negative regulation of intracellular signal transduction;GO:0006936 muscle contraction;GO:0006874 intracellular calcium ion homeostasis;GO:0006883 intracellular sodium ion homeostasis;GO:0060048 cardiac muscle contraction", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "P32418-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BSW7-1", "uniprot_id": [ { "id": "SYT17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BSW7", "type": "external" } ], "mass": 53849.0, "length": 474, "protein_name": "Synaptotagmin-17", "gene_name": "SYT17", "organism": "Human", "refseq_name": "synaptotagmin-17 isoform 1", "refseq_ac": [ { "id": "NP_057608", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057608", "type": "external" } ], "gene_names_uniprotkb": "SYT17", "gene_names_refseq": "SYT17; Syt-17; sytXVII", "protein_names_uniprotkb": "Synaptotagmin-17; Protein B/K; Synaptotagmin XVII; SytXVII", "protein_names_refseq": "B/K protein; synaptotagmin XVII; synaptotagmin-17 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51760)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;16672768;23999003;28228285;28904123;29557506;31844290;32157095", "class_list": "", "function": "Plays a role in dendrite formation by melanocytes (PubMed:23999003)., [UniProtKB, PubMed]; Plays a role in dendrite formation by melanocytes., [UniProtKB, UniProtKB, UniProtKB]; The results suggest that B/K proteins play a role as potential substrates for PKA in the area where they are expressed., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "O43330;Q9NZ18", "ec_number_list": [], "go_molecular_function": "GO:0005544 calcium-dependent phospholipid binding;GO:0000149 SNARE binding;GO:0061891 calcium ion sensor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0098794 postsynapse;GO:0005802 trans-Golgi network;GO:0070382 exocytic vesicle", "go_biological_process": "GO:1903861 positive regulation of dendrite extension;GO:0030154 cell differentiation;GO:0016192 vesicle-mediated transport;GO:0017158 regulation of calcium ion-dependent exocytosis;GO:0099149 regulation of postsynaptic neurotransmitter receptor internalization", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9BSW7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WZ64-1", "uniprot_id": [ { "id": "ARAP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WZ64", "type": "external" } ], "mass": 193452.0, "length": 1704, "protein_name": "Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2", "gene_name": "ARAP2", "organism": "Human", "refseq_name": "arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2", "refseq_ac": [ { "id": "NP_056045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056045", "type": "external" } ], "gene_names_uniprotkb": "ARAP2; CENTD1; KIAA0580", "gene_names_refseq": "ARAP2; CENTD1; PARX", "protein_names_uniprotkb": "Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2; Centaurin-delta-1; Cnt-d1; Protein PARX", "protein_names_refseq": "Arf and Rho GAP adapter protein 2; arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2; centaurin-delta-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:116984); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013423)", "pathway_count": 5, "publication_count": 348, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10619026;10699171;10699464;10724160;10873388;10873802;10958683;11007481;11058585;11085924;11149925;11207612;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11956649;11961559;12071859;12093360;12096337;12172552;12195014;12221077;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;15866170;15897194;16002401;16112081;16116428;16184169;16217026;16243036;16467373;16473593;16492808;16497976;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16968698;17064668;17077126;17081983;17145773;17196961;17214551;17244649;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18077418;18158243;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18697831;18786931;18829452;18835169;18838382;18929667;19269969;19494238;19534724;19605563;19635168;19673492;19713215;19934221;20030946;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;20823205;21148482;21351730;21454492;21542010;21565175;21613211;21685891;21699497;21730051;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22645359;22673745;22734669;22911862;22970203;22992742;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24584464;24714562;24859002;24933155;24960694;24996924;25024229;25211221;25225293;25428919;25505266;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26371245;26529257;26598554;26628301;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27846572;27986909;28028151;28112683;28114311;28196833;28356423;28584191;28825699;28860633;28904123;29089502;29146911;29358323;29382922;29437277;29493099;29557506;30061681;30144359;30429286;30853411;31105010;31217245;31844290;31871319;32157095;32203420;32387766;32502341;32938616;32983136;33298915;33633747;33912179;33936100;33968037;34171305;34211107;34932366;35051231;35580925;35842667;36215666;36240223;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;9252344;9268338;9305890;9405671;9418861;9438849;9490638;9497316;9535835;9548756;9582072;9659915;9670022;9792683;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "ACAP1 and ARAP2 each colocalize with Arf6 but they did not colocalize with each other and have opposing effects on focal adhesions., [RefSeq, PubMed]; ARAP2 is an Arf6GAP that functions downstream of RhoA to regulate focal adhesion dynamics., [RefSeq, PubMed]; Our findings indicate that ARAP2 promotes InlB-mediated entry of Listeria monocytogenes in part, by antagonizing the host GTPase Arf6., [RefSeq, PubMed]; Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency (By similarity)., [UniProtKB]; The abnormal expression of circ-ARAP2 promotes ESCC progression through regulating miR-761/FOXM1 axis-mediated stemness and the endothelial-mesenchymal transition. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008]., [RefSeq]; These results highlight an Arf GAP-independent function of ARAP2 in regulating Akt 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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "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": "Q4W5D2;Q7Z2L5;Q96L70;Q96P49;Q9Y4E4", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0032956 regulation of actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 35.1, "record_id": "Q8WZ64-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q06278-1", "uniprot_id": [ { "id": "AOXA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q06278", "type": "external" } ], "mass": 147918.0, "length": 1338, "protein_name": "Aldehyde oxidase", "gene_name": "AOX1", "organism": "Human", "refseq_name": "aldehyde oxidase", "refseq_ac": [ { "id": "NP_001150", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001150", "type": "external" } ], "gene_names_uniprotkb": "AOX1; AO", "gene_names_refseq": "AOH1; AOX1; AO", "protein_names_uniprotkb": "Aldehyde oxidase; 1.17.3.-; 1.2.3.1; Aldehyde oxidase 1; Azaheterocycle hydroxylase", "protein_names_refseq": "aldehyde oxidase; azaheterocycle hydroxylase", "tax_id": 9606, "disease": "xanthinuria (Disease Ontology:DOID:0060236); amyotrophic lateral sclerosis (Disease Ontology:DOID:332)", "pathway": " (hsa:316); (R-HSA-964975)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10987144;11237011;11302742;15182361;15249053;17022944;18066686;18671973;20444863;22031625;22279051;22335465;22522748;22996261;23481700;23857892;24275569;26322824;26758079;26842593;26992070;27862975;28218747;28904123;29557506;30429286;31844290;32157095;32470878;32502341;32938616;33141586;33392160;33592498;33968037;34185709;35051231;35354150;35580925;36010968;36284347;37827455;38199597;39034354;7786031;8248161;9224775", "class_list": "", "function": "Aldehyde oxidase 1 activity and protein expression in human, rabbit, and pig ocular tissues., [RefSeq, PubMed]; Aldehyde oxidase 1 promoted the occurrence and development of colorectal cancer by up-regulation of expression of CD133., [RefSeq, PubMed]; Aldehyde oxidase 1 promotes gallbladder carcinogenesis through ROS-mediated activation of the Wnt/beta-catenin pathway. Erratum:[Cell Signal. 2026 Jan;137:112219. doi: 10.1016/j.cellsig.2025.112219. PMID: 41224574], [RefSeq, PubMed]; Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]., [RefSeq]; DNA Methylation-Mediated Lowly Expressed AOX1 Promotes Cell Migration and Invasion of Prostate Cancer., [RefSeq, PubMed]; Oxidase with broad substrate specificity, oxidizing aromatic azaheterocycles, such as N1-methylnicotinamide, N-methylphthalazinium and phthalazine, as well as aldehydes, such as benzaldehyde, retinal, pyridoxal, and vanillin. Plays a key role in the metabolism of xenobiotics and drugs containing aromatic azaheterocyclic substituents. Participates in the bioactivation of prodrugs such as famciclovir, catalyzing the oxidation step from 6-deoxypenciclovir to penciclovir, which is a potent antiviral agent. Is probably involved in the regulation of reactive oxygen species homeostasis. May be a prominent source of superoxide generation via the one-electron reduction of molecular oxygen. May also catalyze nitric oxide (NO) production via the reduction of nitrite to NO with NADH or aldehyde as electron donor. May play a role in adipogenesis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Role of AOX1 on RXR signaling regulates osteoblastogenesis in hPDLMSCs. 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": 2, "reported_glycation": 0, "reported_snv": 10, "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": "O14765;Q53RR8;Q53TV3;Q9BYF0;Q9UPG6", "ec_number_list": [ { "id": "1.17.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.17.3.-", "type": "external" }, { "id": "1.2.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.3.1", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0050660 flavin adenine dinucleotide binding;GO:0071949 FAD binding", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006805 xenobiotic metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q06278-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z2E3-1", "uniprot_id": [ { "id": "APTX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z2E3", "type": "external" } ], "mass": 40740.0, "length": 356, "protein_name": "Aprataxin", "gene_name": "APTX", "organism": "Human", "refseq_name": "aprataxin isoform a", "refseq_ac": [ { "id": "NP_001182178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182178", "type": "external" } ], "gene_names_uniprotkb": "APTX; AXA1", "gene_names_refseq": "AOA1; AOA; APTX; AXA1; EAOH; EOAHA; FHA-HIT", "protein_names_uniprotkb": "Aprataxin; 3.6.1.71; 3.6.1.72; FHA-HIT; Forkhead-associated domain histidine triad-like protein", "protein_names_refseq": "aprataxin isoform a; forkhead-associated domain histidine triad-like protein", "tax_id": 9606, "disease": "early-onset ataxia with oculomotor apraxia and hypoalbuminemia (Disease Ontology:DOID:0050754); olivopontocerebellar atrophy (Disease Ontology:DOID:14784)", "pathway": " (hsa:54840)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;11586299;11586300;12196655;12629250;14506070;14755728;15044383;15276230;15380105;15699391;15852392;16547001;16777843;16964241;17276982;19561170;20008512;21406692;24275569;24362567;24715725;25576301;25802875;26992070;27600516;28218747;28228285;28904123;29351928;29437277;29557506;30315122;31217245;31844290;32157095;33298915;33691108;33912179;33968037;33981976;34357683;34932366;35580925;36010968;36241641;36940705;39894887;40596516", "class_list": "", "function": "APTX acts in DNA double-strand break repair in a manner distinct from XRCC4., [RefSeq, PubMed]; DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair (PubMed:15044383, PubMed:15380105, PubMed:16964241, PubMed:17276982, PubMed:24362567). Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases attempt to repair non-ligatable breaks induced by reactive oxygen species (PubMed:16964241, PubMed:24362567). Catalyzes the release of adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini that can be efficiently rejoined (PubMed:16964241, PubMed:17276982, PubMed:24362567). Also able to hydrolyze adenosine 5'-monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity (PubMed:16547001). Likewise, catalyzes the release of 3'-linked guanosine (DNAppG) and inosine (DNAppI) from DNA, but has higher specific activity with 5'-linked adenosine (AppDNA) (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "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": "A8MTN4;D3DRK9;D3DRL0;Q0P662;Q5T781;Q5T782;Q5T784;Q6JV81;Q6JV82;Q6JV85;Q7Z2F3;Q7Z336;Q7Z5R5;Q7Z6V7;Q7Z6V8;Q9NXM5", "ec_number_list": [ { "id": "3.6.1.71", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.71", "type": "external" }, { "id": "3.6.1.72", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.72", "type": "external" } ], "go_molecular_function": "GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0003684 damaged DNA binding;GO:0051219 phosphoprotein binding;GO:0003690 double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0031647 regulation of protein stability;GO:0000012 single strand break repair;GO:0006282 regulation of DNA repair;GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q7Z2E3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q63HQ0-1", "uniprot_id": [ { "id": "AP1AR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q63HQ0", "type": "external" } ], "mass": 34280.0, "length": 302, "protein_name": "AP-1 complex-associated regulatory protein", "gene_name": "AP1AR", "organism": "Human", "refseq_name": "AP-1 complex-associated regulatory protein isoform 2", "refseq_ac": [ { "id": "NP_001121898", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121898", "type": "external" } ], "gene_names_uniprotkb": "AP1AR; C4orf16; PRO0971", "gene_names_refseq": "2C18; AP1AR; C4orf16; GBAR; PRO0971; gamma-BAR", "protein_names_uniprotkb": "AP-1 complex-associated regulatory protein; 2c18; Adaptor-related protein complex 1-associated regulatory protein; GBAR; Gadkin; Gamma-1-adaptin brefeldin A resistance protein; Gamma-A1-adaptin and kinesin interactor; Gamma-BAR", "protein_names_refseq": "AP-1 complex-associated regulatory protein isoform 2; AP-1 complex-associated regulatory protein; adapter-related protein complex 1-associated regulatory protein; gadkin; gamma-1-adaptin brefeldin A resistance protein; gamma-A1-adaptin and kinesin interactor; gamma1-adaptin brefeldin A resistance protein, gamma-BAR", "tax_id": 9606, "disease": "", "pathway": " (hsa:55435)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11230166;11237011;15144186;15775984;18578522;18669648;19349973;19706427;19901323;19965873;20166139;20332099;21525240;22689987;23186163;23481700;25576301;29242379;29393594;29493099;31844290;32157095;32350084;33912179;33936100;33981976;34357683;36241641", "class_list": "", "function": "Conclude that a specific fraction of the AP2-derived endocytic pathway is dedicated to secretory purposes under the control of AP1 and Gadkin, [RefSeq, PubMed]; Gadkin (gamma-BAR), a peripheral membrane protein localized to the trans-Golgi network and to endosomal vesicles, directly associates with the clathrin adaptor AP-1 and the motor protein kinesin KIF5, potentially regulating endosomal vesicle dynamics., [RefSeq, PubMed]; Necessary for adaptor protein complex 1 (AP-1)-dependent transport between the trans-Golgi network and endosomes. Regulates the membrane association of AP1G1/gamma1-adaptin, one of the subunits of the AP-1 adaptor complex. The direct interaction with AP1G1/gamma1-adaptin attenuates the release of the AP-1 complex from membranes. Regulates endosomal membrane traffic via association with AP-1 and KIF5B thus linking kinesin-based plus-end-directed microtubular transport to AP-1-dependent membrane traffic. May act as effector of AP-1 in calcium-induced endo-lysosome secretion. Inhibits Arp2/3 complex function; negatively regulates cell spreading, size and motility via intracellular sequestration of the Arp2/3 complex., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Hum Mol Genet. 2010 Oct 15;19(20):4121. Hesselbrock, Victor [added]; Tischfield, Jay A [added]], [RefSeq, PubMed]; Studies unravel the molecular basis for Gadkin-mediated AP-1 recruitment to TGN/endosomal membranes and identify a novel subtype of the AP-1-binding motif., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "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": "B2RCV7;Q96GG6;Q9H0V0;Q9P1L4", "ec_number_list": [], "go_molecular_function": "GO:0019894 kinesin binding;GO:0035650 AP-1 adaptor complex binding", "go_cellular_component": "GO:0005768 endosome;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005770 late endosome", "go_biological_process": "GO:0015031 protein transport;GO:0034315 regulation of Arp2/3 complex-mediated actin nucleation;GO:1900025 negative regulation of substrate adhesion-dependent cell spreading;GO:0001920 negative regulation of receptor recycling;GO:0048203 vesicle targeting, trans-Golgi to endosome", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q63HQ0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08243-1", "uniprot_id": [ { "id": "ASNS_HUMAN", "url": "https://www.uniprot.org/uniprot/P08243", "type": "external" } ], "mass": 64370.0, "length": 561, "protein_name": "Asparagine synthetase [glutamine-hydrolyzing]", "gene_name": "ASNS", "organism": "Human", "refseq_name": "asparagine synthetase [glutamine-hydrolyzing] isoform b", "refseq_ac": [ { "id": "NP_001171546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171546", "type": "external" } ], "gene_names_uniprotkb": "ASNS; TS11", "gene_names_refseq": "ASNSD; ASNS; TS11", "protein_names_uniprotkb": "Asparagine synthetase [glutamine-hydrolyzing]; 6.3.5.4; Cell cycle control protein TS11; Glutamine-dependent asparagine synthetase", "protein_names_refseq": "TS11 cell cycle control protein; asparagine synthetase [glutamine-hydrolyzing] isoform b; glutamine-dependent asparagine synthetase", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684); retinal degeneration (Disease Ontology:DOID:8466); congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome (MONDO:MONDO:0014258)", "pathway": " (hsa:440); (R-HSA-380994); (R-HSA-8963693); (R-HSA-9633012); (R-HSA-9648895)", "pathway_count": 5, "publication_count": 189, "publication_id_list": "10085079;10369257;10642534;10958673;10982836;11018027;11163539;11237011;11241327;11566871;11677247;11691921;12602510;1400365;14630918;14654843;14716746;14742429;15385533;15775988;15781252;16026328;16467855;16669630;16687408;16912112;16931790;16989641;17027983;17140605;17194761;17267404;17726049;18055463;18285520;18840095;19413330;19608861;19641205;19678840;19807691;20022965;20361218;20423929;22304711;2241899;22544926;22718265;22802018;22819556;22898188;22978410;23038267;23186163;23269699;23301498;23328677;23475216;23481700;23876217;24139043;24155240;24366607;24657844;24715725;25418920;25505266;25576301;2564390;25645385;2565875;2569668;2573597;25880248;25931127;26154972;26375851;2663993;2664463;26758079;26811146;26929215;26992070;27045997;27526673;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28467828;28514659;28649982;28814160;28832583;28834231;28855257;2886907;28904123;29242379;29331515;29372909;29393594;29413899;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;30524438;30573663;30779550;30804176;30833945;31020640;31092671;31154438;31222486;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;3260265;32870666;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34561969;3470743;34725712;35051231;35138101;35154160;35251023;35318648;35469797;35561310;35580925;35739087;36010968;36215666;36241641;37938771;38206293;38474084;38665916;39990658;4052435;8336711;9153226;9211906", "class_list": "", "function": "An endoplasmic reticulum stress-related signature featuring ASNS for predicting prognosis and immune landscape in prostate cancer., [RefSeq, PubMed]; An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency., [RefSeq, PubMed]; Asparagine synthetase regulates lung-cancer metastasis by stabilizing the beta-catenin complex and modulating mitochondrial response. Publication Status: Online-Only, [RefSeq, PubMed]; Integrated Bioinformatics Analysis Identified ASNS and DDIT3 as the Therapeutic Target in Castrate-Resistant Prostate Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 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": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 4, "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": "A4D1I8;B4DXZ1;B7ZAA9;D6W5R3;E9PCI3;E9PCX6;P08184;Q15666;Q549T9;Q96HD0", "ec_number_list": [ { "id": "6.3.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.5.4", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004066 asparagine synthase (glutamine-hydrolyzing) activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0045931 positive regulation of mitotic cell cycle;GO:0042149 cellular response to glucose starvation;GO:0070981 L-asparagine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 19.2, "record_id": "P08243-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NN9-1", "uniprot_id": [ { "id": "AIFM3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NN9", "type": "external" } ], "mass": 66791.0, "length": 605, "protein_name": "Apoptosis-inducing factor 3", "gene_name": "AIFM3", "organism": "Human", "refseq_name": "apoptosis-inducing factor 3 isoform 2", "refseq_ac": [ { "id": "NP_001018070", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018070", "type": "external" } ], "gene_names_uniprotkb": "AIFM3; AIFL", "gene_names_refseq": "AIFL; AIFM3", "protein_names_uniprotkb": "Apoptosis-inducing factor 3; 1.-.-.-; Apoptosis-inducing factor-like protein", "protein_names_refseq": "apoptosis inducing factor mitochondria associated 3; apoptosis-inducing factor 3 isoform 2; apoptosis-inducing factor 3; apoptosis-inducing factor like; apoptosis-inducing factor, mitochondrion-associated, 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:150209)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;15764604;16001080;18477386;19166416;20877624;22984286;29557506;31088422;32664187;34502088;34949658;35051231", "class_list": "", "function": "AIF maintains the transformed state of colon cancer cells through its NADH oxidase activity, by mechanisms that involve complex I function., [RefSeq, PubMed]; AIFL has 598 amino acids, with a characteristic Rieske domain and a pyridine nucleotide-disulfide oxidoreductase domain (Pyr_redox). AIFL shares 35% homology with AIF, mainly in the Pyr_redox domain., [RefSeq, PubMed]; AIFM3 was significantly more expressed in breast cancer tissues than in normal tissues. There was a significant association of AIFM3 expression with tumor size, lymph node metastasis, molecular typing and TNM staging. Lymph node metastasis and TNM stage were independent factors of AIFM3 expression. High AIFM3 expression was related to a shorter OS and DFS. Publication Status: Online-Only, [RefSeq, PubMed]; Apoptosis-Inducing Factor, Mitochondrion-Associated 3 (AIFM3) Protein Level in the Sera as a Prognostic Marker of Cholangiocarcinoma Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Bioinformatic Prediction of Novel Signaling Pathways of Apoptosis-inducing Factor, Mitochondrion-associated 3 (AIFM3) and Their Roles in Metastasis of Cholangiocarcinoma Cells., [RefSeq, PubMed]; CRKL, AIFM3, AIF, BCL2, and UBASH3A during Human Kidney Development. Publication Status: Online-Only, [RefSeq, PubMed]; H. pylori triggers apoptosis in AGS cells via interaction with death receptors in the plasma membrane, leading to the cleavage of procaspase-8, release of cytochrome c and AIF from mitochondria, and activation of subsequent downstream apoptotic events, [RefSeq, PubMed]; Induces apoptosis through a caspase dependent pathway. Reduces mitochondrial membrane potential., [UniProtKB, PubMed, UniProtKB, UniProtKB]; 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": 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": "B7WP37;D3DX37;D3DX38;Q6ZT44;Q8N1V3;Q8N5E0", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0051537 2 iron, 2 sulfur cluster binding;GO:0016651 oxidoreductase activity, acting on NAD(P)H;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0097194 execution phase of apoptosis;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q96NN9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13635-1", "uniprot_id": [ { "id": "PTC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13635", "type": "external" } ], "mass": 160545.0, "length": 1447, "protein_name": "Protein patched homolog 1", "gene_name": "PTCH1", "organism": "Human", "refseq_name": "protein patched homolog 1 isoform L", "refseq_ac": [ { "id": "NP_000255", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000255", "type": "external" } ], "gene_names_uniprotkb": "PTCH1; PTCH", "gene_names_refseq": "BCNS1; BCNS; NBCCS; PTC1; PTCH1; PTCH; PTC; SLC65B1", "protein_names_uniprotkb": "Protein patched homolog 1; PTC1; PTC", "protein_names_refseq": "protein patched homolog 1 isoform L; protein patched homolog 1", "tax_id": 9606, "disease": "colorectal adenoma (Disease Ontology:DOID:0050860); medulloblastoma (Disease Ontology:DOID:0050902); nevoid basal cell carcinoma syndrome 1 (Disease Ontology:DOID:0070365); spina bifida (Disease Ontology:DOID:0080016); holoprosencephaly 7 (Disease Ontology:DOID:0110876); nasopharyngitis (Disease Ontology:DOID:10460); stomach cancer (Disease Ontology:DOID:10534); neurodegenerative disease (Disease Ontology:DOID:1289); Parkinson's disease (Disease Ontology:DOID:14330); pancreatic cancer (Disease Ontology:DOID:1793); nevoid basal cell carcinoma syndrome (Disease Ontology:DOID:2512); basal cell carcinoma (Disease Ontology:DOID:2513); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung adenocarcinoma (Disease Ontology:DOID:3910); hyperglycemia (Disease Ontology:DOID:4195); holoprosencephaly (Disease Ontology:DOID:4621); gallbladder carcinoma (Disease Ontology:DOID:4948); basaloid squamous cell carcinoma (Disease Ontology:DOID:5522); hepatocellular carcinoma (Disease Ontology:DOID:684); basal cell carcinoma, susceptibility to, 1 (MONDO:MONDO:0011556)", "pathway": " (hsa:5727); (R-HSA-373080); (R-HSA-5610787); (R-HSA-5632681); (R-HSA-5632684); (R-HSA-5635838)", "pathway_count": 6, "publication_count": 263, "publication_id_list": "10.1101/2023.09.13.557529;10050855;10097073;10200051;10433824;10564661;10874314;10966113;11027307;11231326;11237011;11278759;11286632;11297558;11375483;11841368;11941477;11960000;12050670;12068298;12098667;12123571;12138125;12192414;12426310;12435627;12516098;12559132;12569124;12655573;14528312;14603322;14611647;14614827;14636583;15019948;15087129;15115751;15198976;15294024;15300262;15459969;15498814;15618519;15691767;15769472;15780749;15930098;16061793;16136078;16155214;16229832;16254602;16311594;16339192;16396903;16421275;16459297;16459298;16493421;16602827;16611981;16630821;16647304;16651542;16707575;16740475;16908539;16980583;17001668;17027958;17086203;17096318;17115028;17200122;17310997;17442700;17504940;17504941;17553904;17641202;17762891;17960137;18327258;18455992;18497258;18559595;18794898;18801728;18815277;18827223;18832070;19000668;19196978;19218434;19223390;19286674;19305393;19365551;19368795;19371734;19533801;19549984;19561609;19561611;19592253;19622347;19666503;19684112;19767740;19776033;19818708;19852954;19877275;19878745;19906846;19948480;19955409;19996169;20014402;20016067;20067783;20154143;20207148;20360384;20395968;20412786;20460306;20487519;20512148;20519495;20643644;20818436;20844013;20844016;20889716;20956384;20966082;2105456;21209331;21356043;21537345;21659505;21664576;21664577;21695114;21801010;21802063;21842183;21878643;22007132;22231273;22277298;22326621;22391300;22391301;22981989;22982193;22986504;23026747;23209152;23332756;23481700;23719536;23725801;23877428;23900540;23955340;24072710;24190977;24302888;24339784;24582806;24845016;24854174;24863049;24917297;24925320;24952464;25576301;25892735;26375851;26992070;27600516;27846572;28228285;28390897;28832583;28834231;29242379;29393594;29493099;29508533;29557506;29769354;29954986;29995851;30139912;30192525;30315122;30379171;30429286;30484775;30524438;30779550;30833945;31127104;31217245;31222486;31548691;31555730;31844290;31848261;32157095;32350084;32387766;32502341;32897882;33091337;33392160;33592498;33691108;33717175;33968037;33981976;34171305;34932366;35051231;35251023;35561310;35580925;36010968;3616618;36241641;36284347;37074911;37611095;38253038;38529886;40128518;6950381;7797535;8082781;8198617;8386612;8397094;8557170;8612563;8647801;8658145;8732687;8770894;8840969;8898207;8906787;8906794;8981943;9064337;9341860;9601642;9620294;9811851;9874371", "class_list": "", "function": "Negative regulator of the smoothened signaling pathway, which acts as a receptor for hedgehog (SHH, IHH and DHH) morphogens (PubMed:21537345, PubMed:29954986, PubMed:29995851, PubMed:30139912, PubMed:31127104, PubMed:31555730, PubMed:37611095, PubMed:40128518, PubMed:9811851). In absence of hedgehog, acts as an inhibitor of smoothened protein (SMO) by preventing SMO access to cholesterol: mechanistically, acts as a cholesterol transporter, which depeletes cholesterol from the outer leaflet of plasma membrane, thereby preventing cholesterol-binding to the extracellular CRD region of SMO (PubMed:31555730, PubMed:37611095). Hedgehog-binding inhibits PTCH1 cholesterol transporter activity, promoting SMO activation by cholesterol and transduction of the smoothened signaling pathway (PubMed:31548691). Molecular mechanism governing cholesterol transport are still unclear: may move cholesterol from the outer to the inner leaflet of the membrane in exchange for potassium or sodium ion export in the opposite direction (PubMed:37611095). Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis (PubMed:8658145)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Seven isoforms of human PTCH mRNA were identified., [RefSeq, PubMed]; This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]., [RefSeq]; Thus, our study clearly demonstrated the unique involvement of the two novel PTCH1 splice variants in HH signal transduction., [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": 6, "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": 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": 2, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 158, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 21, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A3KBI9;E9PEJ8;Q13463;Q5R1U7;Q5R1U9;Q5R1V0;Q5VZC0;Q5VZC2;Q86XG7", "ec_number_list": [], "go_molecular_function": "GO:0097108 hedgehog family protein binding;GO:0008201 heparin binding;GO:0015485 cholesterol binding;GO:0044877 protein-containing complex binding;GO:0008158 hedgehog receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045177 apical part of cell;GO:0045211 postsynaptic membrane;GO:0048471 perinuclear region of cytoplasm;GO:0030666 endocytic vesicle membrane", "go_biological_process": "GO:0043279 response to alkaloid;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007165 signal transduction;GO:0010875 positive regulation of cholesterol efflux;GO:0016485 protein processing", "synthesized_glycan_count": 0, "hit_score": 27.9, "record_id": "Q13635-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BX10-1", "uniprot_id": [ { "id": "GTPB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BX10", "type": "external" } ], "mass": 65768.0, "length": 602, "protein_name": "GTP-binding protein 2", "gene_name": "GTPBP2", "organism": "Human", "refseq_name": "GTP-binding protein 2 isoform b", "refseq_ac": [ { "id": "NP_001273145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273145", "type": "external" } ], "gene_names_uniprotkb": "GTPBP2", "gene_names_refseq": "GTPBP2; JABELS", "protein_names_uniprotkb": "GTP-binding protein 2", "protein_names_refseq": "GTP-binding protein 2 isoform b", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); Jaberi-Elahi syndrome (MONDO:MONDO:0060711)", "pathway": " (hsa:54676); (R-HSA-114608)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10833435;11054535;11237011;1435334;14630798;15297306;23481700;23640497;24366607;24715725;25576301;25645385;26154972;26675814;26992070;27600516;27846572;27920218;28228285;28467828;28514659;28649982;28832583;28904123;29242379;29449720;29508533;29557506;29632046;29632711;29786170;30108131;30410026;30484775;30779550;30790272;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33968037;33981976;34087483;34357683;34509645;34932366;35051231;37938771;38118446;6457647;8467233", "class_list": "", "function": "Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome., [RefSeq, PubMed]; Biallelic inactivating variants in the GTPBP2 were identified in two patients with severe intellectual disability and structural brain abnormalities., [RefSeq, PubMed]; GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding GTP and are inactivated by hydrolyzing GTP to GDP. This general mechanism enables G proteins to perform a wide range of biologic activities.[supplied by OMIM, Jan 2003]., [RefSeq]; GTPBP2 lacked elongation activity and did not stimulate exosomal degradation, indicating that GTPBP1 and GTPBP2 have different functions., [RefSeq, PubMed]; Involved in the rescue of ribosome stalling due to the presence of non-functional tRNA (By similarity). Has very low GTP-binding activity (PubMed:30108131)., [UniProtKB, PubMed, UniProtKB]; It may be a novel neurodegeneration with brain iron accumulation gene., [RefSeq, PubMed]; Prenatal and neonatal findings as well as the first Caucasian and black African families with GTPBP2 biallelic variants, are reported. 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q5T7E8;Q8ND84;Q8TAH7;Q8WUA5;Q9HCS9;Q9NRU4;Q9NX60", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0042802 identical protein binding;GO:1904678 alpha-aminoacyl-tRNA binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0031093 platelet alpha granule lumen", "go_biological_process": "GO:0006414 translational elongation", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q9BX10-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25963-1", "uniprot_id": [ { "id": "IKBA_HUMAN", "url": "https://www.uniprot.org/uniprot/P25963", "type": "external" } ], "mass": 35609.0, "length": 317, "protein_name": "NF-kappa-B inhibitor alpha", "gene_name": "NFKBIA", "organism": "Human", "refseq_name": "NF-kappa-B inhibitor alpha", "refseq_ac": [ { "id": "NP_065390", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065390", "type": "external" } ], "gene_names_uniprotkb": "NFKBIA; IKBA; MAD3; NFKBI", "gene_names_refseq": "EDAID2; IKBA; MAD-3; NFKBIA; NFKBI", "protein_names_uniprotkb": "NF-kappa-B inhibitor alpha; I-kappa-B-alpha; IkB-alpha; IkappaBalpha; Major histocompatibility complex enhancer-binding protein MAD3", "protein_names_refseq": "I-kappa-B-alpha; IkappaBalpha; NF-kappa-B inhibitor alpha; ikB-alpha; major histocompatibility complex enhancer-binding protein MAD3; nuclear factor of kappa light chain gene enhancer in B-cells; nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha", "tax_id": 9606, "disease": "diffuse large B-cell lymphoma (Disease Ontology:DOID:0050745); pre-malignant neoplasm (Disease Ontology:DOID:0060071); childhood-onset asthma (Disease Ontology:DOID:0080815); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); ectodermal dysplasia and immunodeficiency 2 (Disease Ontology:DOID:0081079); prostate cancer (Disease Ontology:DOID:10283); hypertension (Disease Ontology:DOID:10763); sciatic neuropathy (Disease Ontology:DOID:11446); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); nephrotic syndrome (Disease Ontology:DOID:1184); alcoholic hepatitis (Disease Ontology:DOID:12351); Sjogren's syndrome (Disease Ontology:DOID:12894); lung cancer (Disease Ontology:DOID:1324); diarrhea (Disease Ontology:DOID:13250); toxic shock syndrome (Disease Ontology:DOID:14115); hepatitis C (Disease Ontology:DOID:1883); melanoma (Disease Ontology:DOID:1909); hepatitis B (Disease Ontology:DOID:2043); prostate adenocarcinoma (Disease Ontology:DOID:2526); endometriosis (Disease Ontology:DOID:289); pulmonary tuberculosis (Disease Ontology:DOID:2957); glioblastoma (Disease Ontology:DOID:3068); atopic dermatitis (Disease Ontology:DOID:3310); middle cerebral artery infarction (Disease Ontology:DOID:3525); gastritis (Disease Ontology:DOID:4029); pneumonia (Disease Ontology:DOID:552); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); collagen disease (Disease Ontology:DOID:854); Hodgkin's lymphoma (Disease Ontology:DOID:8567); multiple myeloma (Disease Ontology:DOID:9538); encephalitis (Disease Ontology:DOID:9588); pulmonary emphysema (Disease Ontology:DOID:9675); toxoplasmosis (Disease Ontology:DOID:9965)", "pathway": " (hsa:4792); (R-HSA-1169091); (R-HSA-1810476); (R-HSA-202424); (R-HSA-209560); (R-HSA-2871837); (R-HSA-445989); (R-HSA-4755510); (R-HSA-5603029); (R-HSA-5607764); (R-HSA-5689880); (R-HSA-9020702); (R-HSA-933542); (R-HSA-9692916); (R-HSA-9860927); (R-HSA-9920951)", "pathway_count": 16, "publication_count": 465, "publication_id_list": "10022904;10066434;10066435;10075690;10187770;10230406;10321728;10329681;10336492;10384135;10398585;10409681;10421793;10437795;10444327;10454581;10490984;10514424;10514433;10527519;10542212;10574930;10593898;10637284;10644755;10655476;10657303;10698680;10702308;10716940;10722693;10723127;10754328;10764587;10779524;10783893;10838074;10854325;10882101;10882136;10918611;10930537;10973957;10982547;10982817;11053425;11057907;11090634;11094434;11124955;11231305;11237011;11254493;11262391;11279241;11325957;11358993;11408488;11460167;11566882;11606584;11772397;11815618;11884229;11923872;11960013;11994255;12054687;12070292;12118249;12138192;12167702;12189195;12221085;12377412;12429743;12432072;12473183;12473184;12496252;12538665;12660731;12791687;12860405;12909638;12917689;12917691;14514672;14523047;14625308;14651848;14661020;14695475;1493333;15053880;15093615;15105418;15122200;15125833;15128824;15145317;15208624;15308505;15327770;15337789;15368357;15371334;15496460;15541657;15843586;15845454;15879144;15880609;15916963;15917247;16007147;16015604;16056267;16115877;16186825;16214042;16252004;16271147;16301747;16319058;16341139;16356853;16356855;16356856;16612002;16619039;16648481;16822942;16831874;16901786;16906147;16964248;16978534;17003112;17035307;17047224;17072321;17135271;17141195;17158449;17270291;17290220;17308110;17363905;17412287;17428801;17443180;17468049;17496917;17507369;17533369;17548359;1756723;17596301;17675297;17728323;17761676;17873522;17890055;17948050;17956732;17980597;17981138;17997719;18070982;18172164;18180283;18207244;18280240;1828071;1829648;1833184;18412279;18436431;18438411;18444250;18453612;18455150;18462684;18462924;18467330;18468507;18577712;18617892;18632802;18636086;18657515;18772140;18941233;19015242;19066035;19074556;19135894;19188362;19264966;19297320;19359218;19363159;19380580;19398035;19398555;19424180;19590578;19666475;19796012;19838211;19874889;19903815;19909372;19910467;19934406;20038579;20068231;20096447;20188669;20191354;20193029;20228808;20300203;20347421;20356841;20368735;20385620;20449947;20501646;20504922;20538596;20685844;20696886;20811049;20890592;21239494;21362556;2139180;2147937;21525931;21571647;21596315;21606193;21659512;21849505;21962518;21966355;22029577;22046132;22069318;22078572;22085928;22128162;22216260;22253733;22265677;22312431;22645359;22649547;22706990;22798961;22896603;23118497;23159851;23250755;23395819;23469069;23481700;23483519;23486064;23675531;23708964;23824326;23825189;23892407;24056413;24074955;24083678;24101387;24260525;24493797;24509444;24552816;24622840;24714562;24715725;24854014;24896179;24973451;25074923;25135833;25197364;25218447;25305019;25502872;25576301;25578727;25764917;25881508;25907116;26154972;26320399;26378163;26721416;26728094;26758079;27108190;27164085;27203180;27466718;27701768;27846572;27862975;27920218;28148787;28218747;28228285;28431901;28467781;28514659;28629746;28832583;28904123;29050234;29070839;29242379;29294448;29393594;29437277;2946959;29493099;29508533;29557506;29632711;29786170;30185776;30315122;30410026;30429286;30464509;30779550;30804118;30833945;31034780;31231549;3129195;31408443;31530632;31844290;31848261;31937595;32037480;32157095;32357974;32488085;32502341;32673515;32728199;32938616;32983136;33060197;33123756;33141586;33184242;33298915;33392160;33537174;33572115;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34030642;34087483;34171305;34185709;34211107;34433824;34932366;35051231;35081975;35580925;36010968;36284347;36310878;36651806;38228802;38697463;38842203;38961189;39322062;7479848;7479976;7499357;7575604;7578059;7612269;7628694;7796813;7809113;7831327;7862124;7878466;7957109;8327496;8332913;8387275;8550590;8599092;8601309;8604224;8622650;8622692;8631829;8655651;8657102;8657113;8660357;8668171;8670417;8797825;8837778;8887633;8940099;8972730;9008162;9135156;9154800;9214631;9244310;9252186;9261139;9315679;9346241;9346484;9346485;9362451;9371760;9430229;9566872;9573057;9632633;9632806;9687533;9689078;9701247;9707608;9721103;9734360;9751059;9789032;9792644;9792645;9859996;9865693;9865694;9892650;9914500;9989503;9990852;9990853", "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]; Assessing the association between common functional Nuclear Factor Kappa-b gene polymorphisms (NFKB1, NFKBIZ, NFKBIA) and Alzheimer s disease., [RefSeq, PubMed]; Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL (RELA/p65 and NFKB1/p50) dimers in the cytoplasm by masking their nuclear localization signals (PubMed:1493333, PubMed:36651806, PubMed:7479976). On cellular stimulation by immune and pro-inflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription (PubMed:7479976, PubMed:7628694, PubMed:7796813, PubMed:7878466)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; NF-kappaB inhibitor alpha controls SARS-CoV-2 infection in ACE2-overexpressing human airway organoids. Publication Status: Online-Only, [RefSeq, PubMed]; SIAH1 Promotes the Pyroptosis of Cardiomyocytes in Diabetic Cardiomyopathy via Regulating IkappaB-alpha/NF-kappacapital VE, Cyrillic Signaling., [RefSeq, PubMed]; This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]., [RefSeq]; Trim14-IkappaBalpha Signaling Regulates Chronic Inflammatory Pain in Rats and Osteoarthritis 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": 40, "reported_mutagensis": 21, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 34, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R8L6", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding;GO:0051059 NF-kappaB binding;GO:0008139 nuclear localization sequence binding", "go_cellular_component": "GO:0033256 I-kappaB/NF-kappaB complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0070498 interleukin-1-mediated signaling pathway;GO:0070417 cellular response to cold;GO:0010888 negative regulation of lipid storage;GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 46.6, "record_id": "P25963-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q32M45-1", "uniprot_id": [ { "id": "ANO4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q32M45", "type": "external" } ], "mass": 111462.0, "length": 955, "protein_name": "Anoctamin-4", "gene_name": "ANO4", "organism": "Human", "refseq_name": "anoctamin-4 isoform 1", "refseq_ac": [ { "id": "NP_001273544", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273544", "type": "external" } ], "gene_names_uniprotkb": "ANO4; TMEM16D", "gene_names_refseq": "ANO4; TMEM16D", "protein_names_uniprotkb": "Anoctamin-4; Transmembrane protein 16D", "protein_names_refseq": "anoctamin-4 isoform 1; transmembrane protein 16D", "tax_id": 9606, "disease": "", "pathway": " (hsa:121601); (R-HSA-2672351); (R-HSA-9733458)", "pathway_count": 3, "publication_count": 120, "publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;11182090;11237011;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12739008;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19620632;19808995;19953639;20388639;20466723;20525693;20538786;21040849;21527911;21607626;21642943;21984732;22002868;22302790;22773952;22946059;2298749;23112050;2321095;23616951;2536303;26359375;26562072;27600516;28071645;28154142;28790369;29393594;30783137;31548259;31564164;32125455;32362314;32512386;32532959;32703818;32721790;32942285;33051876;33310888;33493182;33494095;33581114;33800471;33827113;33890572;34213849;34504087;34528721;34561887;34613786;34732583;34929169;35343766;38744284;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "ANO4 is one of the most highly expressed genes in the adrenal zona glomerulosa. It attenuates stimulated aldosterone secretion and cell proliferation., [RefSeq, PubMed]; Anoctamin-4 is a bona fide Ca(2+)-dependent non-selective cation channel. Publication Status: Online-Only, [RefSeq, PubMed]; Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity (By similarity)., [UniProtKB, UniProtKB]; Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect., [RefSeq, PubMed]; Prediction of Functional Consequences of Missense Mutations in ANO4 Gene. 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 30, "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": "Q8NAJ0;Q8NB39;Q8NB53", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" } ], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0005229 intracellularly calcium-gated chloride channel activity;GO:0005254 chloride channel activity;GO:0017128 phospholipid scramblase activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0034220 monoatomic ion transmembrane transport;GO:0045332 phospholipid translocation;GO:1902476 chloride transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "Q32M45-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCJ1-1", "uniprot_id": [ { "id": "ANKH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCJ1", "type": "external" } ], "mass": 54241.0, "length": 492, "protein_name": "Mineralization regulator ANKH", "gene_name": "ANKH", "organism": "Human", "refseq_name": "mineralization regulator ANKH isoform 1", "refseq_ac": [ { "id": "NP_473368", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_473368", "type": "external" } ], "gene_names_uniprotkb": "ANKH; KIAA1581; PRO274", "gene_names_refseq": "ANKH; ANK; CCAL2; CMDJ; CPPDD; HANK; MANK; SLC62A1", "protein_names_uniprotkb": "Mineralization regulator ANKH; ANK; ATP carrier protein ANKH; Progressive ankylosis protein homolog", "protein_names_refseq": "ATP carrier protein ANKH; ankylosis, progressive homolog; mineralization regulator ANKH isoform 1; mineralization regulator ANKH; progressive ankylosis protein homolog; solute carrier family 62, member 1", "tax_id": 9606, "disease": "craniometaphyseal dysplasia (Disease Ontology:DOID:0080033); autosomal dominant craniometaphyseal dysplasia (Disease Ontology:DOID:0080801); chondrocalcinosis (Disease Ontology:DOID:1156)", "pathway": " (hsa:56172); (R-HSA-5223345)", "pathway_count": 2, "publication_count": 94, "publication_id_list": "10571941;10894769;11237011;11326272;11326338;11401429;12297987;12297989;12951058;12975309;13130483;14984739;15804357;17166836;18057121;18347014;1840603;18930737;19262752;1955075;19717468;20943778;22119785;22649030;23169667;24715725;24725410;24790029;25576301;25645385;26620797;26635246;26824658;26992070;27102039;27600516;28218747;28228285;28514659;28832583;28855257;28904123;29242379;29314611;29393594;29437277;29557506;29786170;30315122;30410026;30429286;30484775;30524438;31092671;31844290;32157095;32161166;32350084;32366894;32387766;32488085;32639996;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33859255;33936100;33968037;33981976;34087483;34171305;34357683;34405274;34737423;35051231;35147247;35494241;35561310;35580925;36010968;36215666;36241641;36284347;4018271;7615546;7619062;7749638;9114041;9537412", "class_list": "", "function": "Activation of nuclear factor-kappa B by TNF promotes nucleus pulposus mineralization through inhibition of ANKH and ENPP1. Publication Status: Online-Only, [RefSeq, PubMed]; Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia. Publication Status: Online-Only, [RefSeq, PubMed]; M(6)A-mediated upregulation of AC008 promotes osteoarthritis progression through the miR-328-3pAQP1/ANKH axis., [RefSeq, PubMed]; The Mineralization Regulator ANKH Mediates Cellular Efflux of ATP, Not Pyrophosphate., [RefSeq, PubMed]; This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]., [RefSeq]; Transports adenosine triphosphate (ATP) and possibly other nucleoside triphosphates (NTPs) from cytosol to the extracellular space. Mainly regulates their levels locally in peripheral tissues while playing a minor systemic role. Prevents abnormal ectopic mineralization of the joints by regulating the extracellular levels of the calcification inhibitor inorganic pyrophosphate (PPi), which originates from the conversion of extracellular NTPs to NMPs and PPis by ENPP1 (PubMed:20943778, PubMed:32639996, PubMed:35147247). Regulates the release of the TCA cycle intermediates to the extracellular space, in particular citrate, succinate and malate. Extracellular citrate mostly present in bone tissue is required for osteogenic differentiation of mesenchymal stem cells, stabilization of hydroxyapatite structure and overall bone strength (PubMed:32639996). The transport mechanism remains to be elucidated (Probable)., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RCA7;B3KMG4;D3DTD4;Q9NQW2", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0005315 phosphate transmembrane transporter activity;GO:0005347 ATP transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0019867 outer membrane", "go_biological_process": "GO:0007626 locomotory behavior;GO:0055085 transmembrane transport;GO:0001501 skeletal system development;GO:0030500 regulation of bone mineralization;GO:0035435 phosphate ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q9HCJ1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BWW9-1", "uniprot_id": [ { "id": "APOL5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BWW9", "type": "external" } ], "mass": 47044.0, "length": 433, "protein_name": "Apolipoprotein L5", "gene_name": "APOL5", "organism": "Human", "refseq_name": "apolipoprotein L5", "refseq_ac": [ { "id": "NP_085145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085145", "type": "external" } ], "gene_names_uniprotkb": "APOL5", "gene_names_refseq": "APOL-V; APOL5; APOLV", "protein_names_uniprotkb": "Apolipoprotein L5; ApoL-V; Apolipoprotein L-V", "protein_names_refseq": "apolipoprotein L, 5; apolipoprotein L-V; apolipoprotein L5", "tax_id": 9606, "disease": "kidney disease (Disease Ontology:DOID:557)", "pathway": " (hsa:80831)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11374903;20602615;20691427", "class_list": "", "function": "APOL5 has been found only in humans, [RefSeq, PubMed]; May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5TFL9;Q9UGW5", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding;GO:0008035 high-density lipoprotein particle binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006869 lipid transport;GO:0042157 lipoprotein metabolic process", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q9BWW9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15514-1", "uniprot_id": [ { "id": "AREG_HUMAN", "url": "https://www.uniprot.org/uniprot/P15514", "type": "external" } ], "mass": 27895.0, "length": 252, "protein_name": "Amphiregulin", "gene_name": "AREG", "organism": "Human", "refseq_name": "amphiregulin preproprotein", "refseq_ac": [ { "id": "NP_001648", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001648", "type": "external" } ], "gene_names_uniprotkb": "AREG; AREGB; SDGF", "gene_names_refseq": "AREGB; AREG; AR; CRDGF; SDGF", "protein_names_uniprotkb": "Amphiregulin; AR; CRDGF; Colorectum cell-derived growth factor", "protein_names_refseq": "amphiregulin B; amphiregulin preproprotein; colorectum cell-derived growth factor; schwannoma-derived growth factor", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); urinary bladder cancer (Disease Ontology:DOID:11054); breast cancer (Disease Ontology:DOID:1612); transitional cell carcinoma (Disease Ontology:DOID:2671); invasive ductal carcinoma (Disease Ontology:DOID:3008); high grade glioma (Disease Ontology:DOID:3070); prostate carcinoma in situ (Disease Ontology:DOID:8634)", "pathway": " (hsa:374); (R-HSA-1257604); (R-HSA-177929); (R-HSA-179812); (R-HSA-180292); (R-HSA-180336); (R-HSA-182971); (R-HSA-204005); (R-HSA-212718); (R-HSA-2219530); (R-HSA-5638303); (R-HSA-5673001); (R-HSA-5694530); (R-HSA-6811558); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-9009391); (R-HSA-9634638); (R-HSA-9818030); (R-HSA-9927418); (R-HSA-9927432)", "pathway_count": 21, "publication_count": 595, "publication_id_list": 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"class_list": "", "function": "Amphiregulin from regulatory T cells promotes liver fibrosis and insulin resistance in non-alcoholic steatohepatitis., [RefSeq, PubMed]; Amphiregulin promotes activated regulatory T cell-suppressive function via the AREG/EGFR pathway in laryngeal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; CD133 Stimulates Cell Proliferation via the Upregulation of Amphiregulin in Melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; Ligand of the EGF receptor/EGFR. Autocrine growth factor as well as a mitogen for a broad range of target cells including astrocytes, Schwann cells and fibroblasts., [UniProtKB]; Mucosal-associated invariant T cells promote ductular reaction through amphiregulin in biliary atresia., [RefSeq, PubMed]; The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). The protein interacts with the EGF/TGF-alpha receptor to promote the growth of normal epithelial cells, and it inhibits the growth of certain aggressive carcinoma cell lines. It also functions in mammary gland, oocyte and bone tissue development. This gene is associated with a psoriasis-like skin phenotype, and is also associated with other pathological disorders, including various types of cancers and inflammatory conditions. [provided by RefSeq, Apr 2014]., [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": 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": 1, "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": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q5U026", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0005154 epidermal growth factor receptor binding;GO:0008083 growth factor activity;GO:0030297 transmembrane receptor protein tyrosine kinase activator activity;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0009986 cell surface;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007267 cell-cell signaling;GO:0008284 positive regulation of cell population proliferation;GO:0031175 neuron projection development;GO:0042542 response to hydrogen peroxide", "synthesized_glycan_count": 0, "hit_score": 60.8, "record_id": "P15514-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25098-1", "uniprot_id": [ { "id": "GRK2_HUMAN", "url": "https://www.uniprot.org/uniprot/P25098", "type": "external" } ], "mass": 79574.0, "length": 689, "protein_name": "G protein-coupled receptor kinase 2", "gene_name": "GRK2", "organism": "Human", "refseq_name": "beta-adrenergic receptor kinase 1", "refseq_ac": [ { "id": "NP_001610", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001610", "type": "external" } ], "gene_names_uniprotkb": "GRK2; ADRBK1; BARK1; BARK", "gene_names_refseq": "ADRBK1; BARK1; BETA-ARK1; GRK2", "protein_names_uniprotkb": "G protein-coupled receptor kinase 2; 2.7.11.15; 2.7.11.16; Beta-ARK-1; Beta-adrenergic receptor kinase 1", "protein_names_refseq": "adrenergic beta receptor kinase 1; beta-ARK-1; beta-adrenergic receptor kinase 1", "tax_id": 9606, "disease": "limb ischemia (Disease Ontology:DOID:0050852); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); toxic shock syndrome (Disease Ontology:DOID:14115); Parkinson's disease (Disease Ontology:DOID:14330); impotence (Disease Ontology:DOID:1875); opiate dependence (Disease Ontology:DOID:2559); pituitary adenoma (Disease Ontology:DOID:3829); hyperglycemia (Disease Ontology:DOID:4195); liver cirrhosis (Disease Ontology:DOID:5082); congestive heart failure (Disease Ontology:DOID:6000); rheumatoid arthritis (Disease Ontology:DOID:7148); bacterial pneumonia (Disease Ontology:DOID:874)", "pathway": " (hsa:156); (R-HSA-111933); (R-HSA-416476); (R-HSA-418555); (R-HSA-5635838); (R-HSA-8856825)", "pathway_count": 6, "publication_count": 298, "publication_id_list": "10085131;10097102;10191087;10436022;10567358;10567430;10574913;10613896;10727525;10727532;10769163;10861009;10966113;10983987;11007482;11015615;11042191;11071885;11076969;11120772;11237011;11247302;11278469;11454741;11588219;11742120;11753430;11919637;11927540;11988742;12036966;12058044;12086608;12106601;12120503;12180353;12221107;12234931;12429842;12451172;12464600;12717448;12860470;12944396;12958364;1317852;1339451;13549488;14614827;14636583;14662753;14671004;14726597;14976224;15134832;1517224;1535555;15473838;15618519;15671180;15691767;15728179;15765929;15769620;15951850;16136078;16159959;16179383;16182515;16268778;16313925;16339447;16459302;16460808;16516836;16630821;16687412;16723738;16725308;16754659;16903783;16908539;16923326;17168849;17267500;17344846;17360967;17456551;17522231;17641202;17713526;17960137;18032517;18044684;18077607;18088087;18166656;18199683;18434541;18463167;18497258;18515384;18577758;18767875;18775314;18815277;18819912;18936096;1905813;19105585;19140243;19196978;19218434;19306925;19365551;19651622;1968060;19696798;19715378;19732400;19853559;19876791;19929708;19948480;20080565;20231386;20351096;2037065;20381629;20844016;21036126;21081496;21102408;21356043;2163110;21659505;21695114;21799898;21995445;22118466;22193721;22277298;22357968;22484487;22544926;2257624;22942912;22981989;22986504;23026747;23077507;23186163;23719536;23772028;23877428;2417744;24186068;24384571;24570070;24582806;24680432;24687066;24714562;24715725;24746795;24845016;2491850;24925320;2553411;2553705;25576301;25645385;25880248;26154972;26403691;26417854;26829388;26992070;27543614;27600516;27720394;27846572;27862975;27869121;27920218;28218747;28228285;2841328;28514659;2871555;28832583;28834231;2890644;29242379;29393594;29437277;29443750;29493099;29508533;29557506;29602314;29632046;29632711;29786170;30284927;30315122;30410026;30429286;30524438;30779550;30784271;30833991;3086311;31092671;31154438;3127824;31279028;31399091;31530632;31844290;31848261;31937595;31983287;31998317;32157095;32161166;32226383;32265295;32350084;32357974;32387766;32413989;32488085;32497535;32502341;32540603;32618402;32715661;32897882;32938616;32983136;33049737;33073183;33141586;33298915;33537174;33592498;33691108;33717175;33806062;33912179;33936100;33968037;33981976;34087483;34171305;3417785;34185709;34211107;34405274;34509645;34561969;34932366;35051231;35154160;35580925;36010968;36241641;36284347;37892234;38242702;38446273;39138140;40384633;6085243;7569928;7822302;7937899;8195124;8340388;8514797;8553074;8664309;8672451;8837779;8910504;9169477;9263355;9303539;9305846;9417641;9446593;9501202;9651336;9723620;9753452;9770463;9812899", "class_list": "", "function": "Exploring the potential biological function of GRK2 in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; G Protein-Coupled Receptor Kinase 2 Selectively Enhances beta-Arrestin Recruitment to the D2 Dopamine Receptor through Mechanisms That Are Independent of Receptor Phosphorylation. Publication Status: Online-Only, [RefSeq, PubMed]; GRK2-YAP signaling is implicated in pulmonary arterial hypertension development., [RefSeq, PubMed]; Specifically phosphorylates the activated forms of G protein-coupled receptors (PubMed:14976224, PubMed:16179383, PubMed:19306925, PubMed:19715378, PubMed:21799898, PubMed:23077507, PubMed:30284927, PubMed:39138140, PubMed:40384633). Such receptor phosphorylation initiates beta-arrestin-mediated receptor internalization, and signaling events leading to their desensitization (PubMed:14976224, PubMed:16179383, PubMed:19306925, PubMed:19715378, PubMed:21799898, PubMed:23077507, PubMed:30284927, PubMed:39138140, PubMed:40384633). Phosphorylates the agonist-occupied form of the beta-adrenergic and closely related receptors, probably inducing a desensitization of them (PubMed:19715378). Phosphorylates catecholamine-activated ADRB2 to regulate physiological cardiomyocyte contraction rate responses (By similarity). Also phosphorylates ligand-bound C3a and C5a anaphylatoxin receptors (C3AR1 and C5AR1, respectively), leading to receptor desensitization (PubMed:21799898, PubMed:23077507). Positively regulates ciliary smoothened (SMO) signaling pathway by mediating phosphorylation of SMO, facilitating SMO trafficking into the cilium and the stimulation of SMO activity (PubMed:39138140). Also positively regulates SMO signaling by mediating phosphorylation of GPR161, a key inhibitor SMO signaling, promoting ciliary export of GPR161 (PubMed:40384633). Key regulator of LPAR1 signaling (PubMed:19306925). Competes with RALA for binding to LPAR1 thus affecting the signaling properties of the receptor (PubMed:19306925). Desensitizes LPAR1 and LPAR2 in a phosphorylation-independent manner (PubMed:19306925). Inhibits relaxation of airway smooth muscle in response to blue light (PubMed:30284927)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Specifically phosphorylates the agonist-occupied form of the beta-adrenergic and closely related receptors, probably inducing a desensitization of them. Phosphorylates catecholamine-activated ADRB2 to regulate physiological cardiomyocyte contraction rate responses. Also phosphorylates ligand-bound C3a and C5a anaphylatoxin receptors (C3AR1 and C5AR1, respectively), leading to receptor desensitization. Key regulator of LPAR1 signaling. Competes with RALA for binding to LPAR1 thus affecting the signaling properties of the receptor. Desensitizes LPAR1 and LPAR2 in a phosphorylation-independent manner. Positively regulates ciliary smoothened (SMO)-dependent Hedgehog (Hh) signaling pathway by facilitating the trafficking of SMO into the cilium and the stimulation of SMO activity. Inhibits relaxation of airway smooth muscle in response to blue light., [UniProtKB, UniProtKB]; This gene encodes a member of the G protein-coupled receptor kinase family of proteins. The encoded protein phosphorylates the beta-adrenergic receptor as well as a wide range of other substrates including non-GPCR cell surface receptors, and cytoskeletal, mitochondrial, and transcription factor proteins. Data from rodent models supports a role for this gene in embryonic development, heart function and metabolism. Elevated expression of this gene has been observed in human patients with heart failure and Alzheimer's disease. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 13, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0ZBE1;Q13837;Q6GTT3", "ec_number_list": [ { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "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" }, { "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": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0005524 ATP binding;GO:0001664 G protein-coupled receptor binding;GO:0031694 alpha-2A adrenergic receptor binding;GO:0004703 G protein-coupled receptor kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005929 cilium;GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007213 G protein-coupled acetylcholine receptor signaling pathway;GO:0031623 receptor internalization;GO:0060048 cardiac muscle contraction;GO:0046718 symbiont entry into host cell", "synthesized_glycan_count": 0, "hit_score": 29.9, "record_id": "P25098-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13520-1", "uniprot_id": [ { "id": "AQP6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13520", "type": "external" } ], "mass": 29370.0, "length": 282, "protein_name": "Aquaporin-6", "gene_name": "AQP6", "organism": "Human", "refseq_name": "aquaporin-6", "refseq_ac": [ { "id": "NP_001643", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001643", "type": "external" } ], "gene_names_uniprotkb": "AQP6; AQP2L", "gene_names_refseq": "AQP2L; AQP6; KID", "protein_names_uniprotkb": "Aquaporin-6; AQP-6; Aquaporin-2-like; Kidney-specific aquaporin; hKID", "protein_names_refseq": "AQP-6; aquaporin 2-like, kidney specific; aquaporin-6, kidney specific; aquaporin-6; hKID; kidney-specific aquaporin", "tax_id": 9606, "disease": "", "pathway": " (hsa:363); (R-HSA-432047)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10510269;10564231;11001937;11027599;11034202;11076974;11231887;11237011;11532455;11573934;11952783;12084581;12177001;12801959;1373524;14514735;14592814;14701836;1510932;15703994;15948717;16325777;16407156;16596446;17178220;17374283;17920625;18202181;18501347;18511455;18555844;18678926;18762715;18768791;18948439;19144687;19170255;19383790;19574955;19590626;19680475;19857466;20147624;20461409;21251984;23359558;23481700;26779650;29557506;3049610;31844290;33912179;35051231;7510718;7530250;7535000;7678419;8140421;8621489;8812490;8855281;9369468;9405233;9806845;9829975", "class_list": "", "function": "AQP6 and AQP8 had different expression degrees in epithelial ovarian tissues, which suggests that AQP6 and AQP8 may play certain roles in epithelial ovarian tumors., [RefSeq, PubMed]; Aquaporins form homotetrameric transmembrane channels, with each monomer independently mediating water transport across the plasma membrane along its osmotic gradient (PubMed:8812490). Unlike classical aquaporins, AQP6 is an intracellular channel with selective anion permeability, particularly for nitrate, and exhibits very low water permeability (By similarity). It may also facilitate the transport of gases, such as CO2 and NH4(+), as demonstrated in vitro (By similarity)., [UniProtKB, PubMed, UniProtKB]; Data have identified AQP6 s valuable markers for renal oncocytomas. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of AQP1, AQP4, or AQP6 mRNA did not differ in vestibular endorgans from patients with Meniere's disease., [RefSeq, PubMed]; The primary role of AQP6 may be in cellular regulation, [RefSeq, PubMed]; The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "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:0005253 monoatomic anion channel activity;GO:0015112 nitrate transmembrane transporter activity;GO:0015250 water channel activity;GO:0008519 ammonium channel activity;GO:0035379 carbon dioxide transmembrane transporter activity", "go_cellular_component": "GO:0030659 cytoplasmic vesicle membrane;GO:0016020 membrane", "go_biological_process": "GO:0042476 odontogenesis;GO:0003097 renal water transport;GO:0015670 carbon dioxide transport;GO:0015706 nitrate transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q13520-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IV38-1", "uniprot_id": [ { "id": "ANKY2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IV38", "type": "external" } ], "mass": 49299.0, "length": 441, "protein_name": "Ankyrin repeat and MYND domain-containing protein 2", "gene_name": "ANKMY2", "organism": "Human", "refseq_name": "ankyrin repeat and MYND domain-containing protein 2", "refseq_ac": [ { "id": "NP_064715", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064715", "type": "external" } ], "gene_names_uniprotkb": "ANKMY2", "gene_names_refseq": "ANKMY2; ZMYND20", "protein_names_uniprotkb": "Ankyrin repeat and MYND domain-containing protein 2", "protein_names_refseq": "ankyrin repeat and MYND domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57037)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;26992070;29242379;29557506;29786170;30379171;30429286;31154438;32157095;32387766;32938616;33691108;33981976;34171305;34509645;35051231;36241641;37217939", "class_list": "", "function": "May be involved in the trafficking of signaling proteins to the cilia., [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D124;Q659G1;Q96BL3", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005929 cilium", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q8IV38-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WX3-1", "uniprot_id": [ { "id": "AROS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WX3", "type": "external" } ], "mass": 15434.0, "length": 136, "protein_name": "Active regulator of SIRT1", "gene_name": "RPS19BP1", "organism": "Human", "refseq_name": "active regulator of SIRT1", "refseq_ac": [ { "id": "NP_919307", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_919307", "type": "external" } ], "gene_names_uniprotkb": "RPS19BP1; AROS", "gene_names_refseq": "AROS; RPS19BP1; S19BP", "protein_names_uniprotkb": "Active regulator of SIRT1; 40S ribosomal protein S19-binding protein 1; RPS19-binding protein 1; S19BP", "protein_names_refseq": "40S ribosomal protein S19-binding protein 1; RPS19-binding protein 1; active regulator of SIRT1; homolog of mouse S19 binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:91582); (R-HSA-3371453)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "10954706;11237011;11747420;12853476;12917326;12974469;15364926;15802566;1586970;16278218;1754405;17964266;18235501;18235502;18477386;18550409;19229036;19914676;22465953;22541429;22735644;22940245;23186163;23349863;24715725;25576301;25880248;26992070;28228285;28832583;28834231;28904123;29393594;29557506;30192525;30315122;30379171;30429286;31154438;31530632;31844290;31848261;32157095;32265295;32488085;32502341;32938616;32983136;33592498;33912179;33968037;34171305;34516797;35580925;36361557;37217939;7585962;8721986;8946918;9305631;9873016;9920933", "class_list": "", "function": "Active regulator of SIRT1 (AROS) is the first direct SIRT1 regulator to be identified that modulates p53-mediated growth regulation. Erratum:[Mol Cell. 2007 Nov 9;28(3):513], [RefSeq, PubMed]; Molecular Mechanism of Sirtuin 1 Modulation by the AROS Protein. Publication Status: Online-Only, [RefSeq, PubMed]; Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Acts as a chaperone that specifically mediates the integration of RPS19 in state post-A1 (PubMed:34516797). Direct regulator of SIRT1. Enhances SIRT1-mediated deacetylation of p53/TP53, thereby participating in inhibition of p53/TP53-mediated transcriptional activity (PubMed:17964266)., [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": 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": "B0QY96;Q5JZA1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0032040 small-subunit processome", "go_biological_process": "GO:0042274 ribosomal small subunit biogenesis", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q86WX3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96KQ4-1", "uniprot_id": [ { "id": "ASPP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96KQ4", "type": "external" } ], "mass": 119565.0, "length": 1090, "protein_name": "Apoptosis-stimulating of p53 protein 1", "gene_name": "PPP1R13B", "organism": "Human", "refseq_name": "apoptosis-stimulating of p53 protein 1", "refseq_ac": [ { "id": "NP_056131", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056131", "type": "external" } ], "gene_names_uniprotkb": "PPP1R13B; ASPP1; KIAA0771", "gene_names_refseq": "ASPP1; PPP1R13B; p53BP2-like; p85", "protein_names_uniprotkb": "Apoptosis-stimulating of p53 protein 1; Protein phosphatase 1 regulatory subunit 13B", "protein_names_refseq": "apoptosis-stimulating of p53 protein 1; apoptosis-stimulating protein of p53, 1; protein phosphatase 1, regulatory (inhibitor) subunit 13B", "tax_id": 9606, "disease": "", "pathway": " (hsa:23368); (R-HSA-139915); (R-HSA-6803204); (R-HSA-6803205); (R-HSA-6803211); (R-HSA-6804759)", "pathway_count": 6, "publication_count": 110, "publication_id_list": "10.1101/2023.09.13.557529;10329733;10733530;10777207;10807576;11030628;11054413;11237011;11382926;11463392;11511362;11572983;11675392;11684014;11714700;11919562;12203124;12402042;12494467;12524540;12606722;1321151;14614825;14623878;14684737;14729977;15126337;15273740;15289308;15377670;15577913;15598651;15607964;15731768;15735003;15757645;15769996;15797384;15837622;15958553;16140933;16230375;16249378;16382142;17145718;17349958;17442733;17719541;18212344;18275817;18532927;18617898;18669648;18676979;19040420;19303885;19349281;19377469;19549844;19615968;20068231;20075864;20353938;22334068;22538442;22766503;22864287;22975685;23059823;23182941;23186163;23365256;23481700;23671130;23684607;23931759;24260043;24714389;25080938;25356872;25576301;26071602;26154972;26378048;27600516;27862975;28832583;28904123;29242379;29493099;29557506;29786170;30410026;31844290;31848261;32157095;32269211;32357974;32387766;32987288;33936100;33968037;34405274;35051231;35494241;35580925;7566179;7834749;7991565;9326928", "class_list": "", "function": "ASPP1 CpG island aberrant methylation could be one molecular and genetic alteration in wild-type p53 tumours., [RefSeq, PubMed]; ASPP1 deficiency promotes epithelial-mesenchymal transition, invasion and metastasis in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Apoptosis stimulating protein of p53 (ASPP) 1 and ASPP2 m-RNA expression in oral cancer., [RefSeq, PubMed]; Regulator that plays a central role in regulation of apoptosis via its interaction with p53/TP53 (PubMed:11684014, PubMed:12524540). Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic genes in vivo., [UniProtKB, PubMed, PubMed]; Target of E2F transcription factor, [RefSeq, PubMed]; This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [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": 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": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RMX5;O94870", "ec_number_list": [], "go_molecular_function": "GO:0002039 p53 binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0042981 regulation of apoptotic process;GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator;GO:0045786 negative regulation of cell cycle;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q96KQ4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BM1-1", "uniprot_id": [ { "id": "ANKR9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BM1", "type": "external" } ], "mass": 34295.0, "length": 317, "protein_name": "Ankyrin repeat domain-containing protein 9", "gene_name": "ANKRD9", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 9", "refseq_ac": [ { "id": "NP_001335580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335580", "type": "external" } ], "gene_names_uniprotkb": "ANKRD9", "gene_names_refseq": "ANKRD9", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 9", "protein_names_refseq": "ankyrin repeat domain-containing protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:122416); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 116, "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;16171779;16401342;16547496;16647857;16707496;16790436;16943200;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19617556;19748355;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24522796;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;27030794;27222660;27565346;28115426;28514659;28832583;29153394;30293565;30610225;31337707;32005965;32157095;32284348;33444648;35051231;36241641;37217939;9790970;9887101;9891082", "class_list": "", "function": "ANKRD9 regulates IMPDH2 abundance and macro-assembly in response to metabolic changes., [RefSeq, PubMed]; Show that ANKRD9 is genetically and functionally associated with tumor suppression by acting as a substrate receptor subunit of a CUL5-based E3 ubiquitin ligase that ubiquitinates substrate proteins as IMPDH2 and presumably IMPDH1, marking them for proteasomal degradation and turnover. Furthermore, ANKRD9 accomplishes its anti-proliferative and tumor-suppressive function via IMPDH2 degradation., [RefSeq, PubMed]; Substrate receptor subunit of a cullin-RING superfamily E3 ligase complex (CUL5-based E3 ubiquitin ligase complex) which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:30293565). Depending of the metabolic state of the cell, promotes the proteasomal degradation of IMPDH2, the rate-limiting enzyme in GTP biosynthesis or protects IMPDH2 by stabilizing IMPDH2 filaments assembly (PubMed:30293565, PubMed:31337707). Implicated in different cellular processes, like copper homeostasis and cell proliferation (PubMed:24522796, PubMed:30293565)., [UniProtKB, PubMed, PubMed, PubMed, 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": 0, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K753", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0031410 cytoplasmic vesicle;GO:0031466 Cul5-RING ubiquitin ligase complex", "go_biological_process": "GO:0006878 intracellular copper ion homeostasis;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q96BM1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95076-1", "uniprot_id": [ { "id": "ALX3_HUMAN", "url": "https://www.uniprot.org/uniprot/O95076", "type": "external" } ], "mass": 36935.0, "length": 343, "protein_name": "Homeobox protein aristaless-like 3", "gene_name": "ALX3", "organism": "Human", "refseq_name": "homeobox protein aristaless-like 3", "refseq_ac": [ { "id": "NP_006483", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006483", "type": "external" } ], "gene_names_uniprotkb": "ALX3", "gene_names_refseq": "ALX3; FND1; FND", "protein_names_uniprotkb": "Homeobox protein aristaless-like 3; Proline-rich transcription factor ALX3", "protein_names_refseq": "aristaless-like homeobox 3; frontonasal dysplasia; homeobox protein aristaless-like 3; proline-rich transcription factor ALX3", "tax_id": 9606, "disease": "frontonasal dysplasia (Disease Ontology:DOID:0081044); frontonasal dysplasia 1 (Disease Ontology:DOID:0081045)", "pathway": " (hsa:257); (R-HSA-9856649)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10567402;10611221;10655586;10673502;11027551;11237011;11807986;11840323;11891324;11912130;11930005;14975237;15118077;15226305;15507434;16014379;16034366;16822840;16825292;1698554;1748288;17623675;18644867;19409524;19524539;19608861;20460180;21486943;21965087;22647378;23159739;23190890;23207919;25248477;25595898;27128622;28394346;29215096;29295999;29557506;30804224;32636443;33744299;34140478;34266408;35051231;35494241;37770430;5338216;7958932;8336698;9199364;9353119;9440696;9560246;9676189;9760192;9973413", "class_list": "", "function": "Alx3 participates in the regulation of insulin gene expression in pancreatic beta-cells. GeneRIF: Chromatin immunoprecipitation assays indicated that Alx3 in mouse pancreatic islets occupies the promoter of the mouse insulin genes., [RefSeq, PubMed]; Genome scan using 250k Nsp1 array followed by exome and Sanger sequence analysis revealed a novel homozygous nonsense variant (c.604C>T, p.Gln202*) in the ALX3 gene resulting in frontorhiny in the family. This is the first mutation in the ALX3 gene, underlying frontorhiny, in Pakistani population., [RefSeq, PubMed]; Oncogenic role of ALX3 in cervical cancer cells through KDM2B-mediated histone demethylation of CDC25A. Publication Status: Online-Only, [RefSeq, PubMed]; Rat Alx3 undergoes restrictive or permissive interactions with nuclear proteins that determine its binding to and transactivation from TAAT target sites selected in a cell-specific manner., [RefSeq, PubMed]; The lack of a chromosome 1-derived fragment of ALX3 in restriction landmark genomic scanning and virtual genome scans of neuroblastomas is attributable to hypermethylation., [RefSeq, PubMed]; This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional regulator with a possible role in patterning of mesoderm during development., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "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": "O95075;Q5T8M4", "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: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;GO:0048666 neuron development", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "O95076-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95782-1", "uniprot_id": [ { "id": "AP2A1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95782", "type": "external" } ], "mass": 107546.0, "length": 977, "protein_name": "AP-2 complex subunit alpha-1", "gene_name": "AP2A1", "organism": "Human", "refseq_name": "AP-2 complex subunit alpha-1 isoform 1", "refseq_ac": [ { "id": "NP_055018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055018", "type": "external" } ], "gene_names_uniprotkb": "AP2A1; ADTAA; CLAPA1", "gene_names_refseq": "ADTAA; AP2-ALPHA; AP2A1; CLAPA1", "protein_names_uniprotkb": "AP-2 complex subunit alpha-1; 100 kDa coated vesicle protein A; Adaptor protein complex AP-2 subunit alpha-1; Adaptor-related protein complex 2 subunit alpha-1; Alpha-adaptin A; Alpha1-adaptin; Clathrin assembly protein complex 2 alpha-A large chain; Plasma membrane adaptor HA2/AP2 adaptin alpha A subunit", "protein_names_refseq": "100 kDa coated vesicle protein A; AP-2 complex subunit alpha-1 isoform 1; AP-2 complex subunit alpha-1; adapter-related protein complex 2 alpha-1 subunit; adapter-related protein complex 2 subunit alpha-1; adaptin, alpha A; adaptor protein complex AP-2 subunit alpha-1; adaptor related protein complex 2 alpha 1 subunit; alpha-adaptin A; alpha1-adaptin; clathrin assembly protein complex 2 alpha-A large chain; clathrin-associated/assembly/adaptor protein, large, alpha 1; plasma membrane adaptor HA2/AP2 adaptin alpha A subunit", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:160); (R-HSA-167590); (R-HSA-177504); (R-HSA-182218); (R-HSA-2132295); (R-HSA-3928665); (R-HSA-416993); (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": 16, "publication_count": 468, "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;10983987;11071885;11076969;11082044;11157096;11230166;11231140;11237011;11239472;11247302;11337487;11448999;11454741;11470803;11516654;11517213;11529500;11532990;11577110;11584272;11588219;11684289;11790530;11813165;11853874;11877457;11877461;11889126;11919637;11927540;11988742;12036598;12057195;12078484;12082080;12086608;12198549;12213833;12221107;12234931;12364336;12429842;12447393;12451172;12464600;12464675;12682107;12717448;12742663;12748383;12847086;12942088;12944396;12952949;12958364;12973357;1317852;14555962;14581451;14617351;14622578;14622579;14662753;14726597;14731593;14745134;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;16055064;16103193;16103228;16115318;16159959;16179341;16181339;16215232;16242130;16262731;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;17762867;17765681;17978091;18032517;18039658;18046453;18093523;18166656;18199683;18266465;18292509;18388313;18452278;18478542;1847920;18644789;18669648;18691976;18713744;18772377;18775314;18782767;18790740;18819912;18981233;19033387;19092055;19140243;19141679;19196236;19278660;19287005;19296720;19458185;19520913;19536138;19563754;1956401;19564404;19575674;19582886;19592704;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;19910923;20033059;20059951;20068231;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;22262466;22357968;22401777;22484487;22505844;22510808;22552008;2257624;22764087;22814904;22815487;22863004;22936343;22942912;23084921;23297414;23536704;23641311;23658209;23676497;23823722;23861397;23891661;2391366;24074594;24130457;24186068;24272870;24366607;24384571;2448316;24581490;24584101;24680432;24715725;24746795;24789820;24868095;24966051;25107275;25303366;25341920;25418920;25576301;25645385;25699256;25801024;25802875;25880248;25915661;26002965;26042225;26056282;26154972;26212330;26403691;26468529;26474739;26758079;26829388;26929215;26992070;27022195;2722848;27397612;27452731;27600516;27832191;27920218;28218747;28228285;28425720;28467828;28510447;28514659;28832583;28834231;28855257;28904123;2890644;29242379;29262337;29393594;29437277;29493099;29557506;29610346;29632046;29632711;29742433;29769354;29786170;29945920;30081190;30201761;30315122;30397120;30410026;30429286;30779550;30833945;31048504;31154438;31217245;31222486;31530632;31720911;31844290;31848261;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33091337;33141586;33214551;33298915;33465208;33592498;33866776;33912179;33968037;33981976;34019948;34171305;3417785;34229054;34357683;34725712;35051231;35154160;35318648;35561310;35580925;36010968;36241641;36284347;37192158;37217939;37938771;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 alpha subunit binds polyphosphoinositide-containing lipids, positioning AP-2 on the membrane. The AP-2 alpha subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Results revealed thirteen novel splice junctions of previously annotated exons. Consecutive nested PCRs led to the determination of the primary structure of seventy-seven novel AP2A1 transcripts, all of which were shown to comprise at least one premature translation termination codon, thus representing nonsense-mediated mRNA decay candidates., [RefSeq, PubMed]; This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [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": 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": 15, "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": "Q96CI7;Q96PP6;Q96PP7;Q9H070", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0050750 low-density lipoprotein particle receptor binding;GO:0044877 protein-containing complex binding;GO:0035615 clathrin adaptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0098884 postsynaptic neurotransmitter receptor internalization;GO:0006886 intracellular protein transport;GO:0006897 endocytosis;GO:0010976 positive regulation of neuron projection development;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 47.4, "record_id": "O95782-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00966-1", "uniprot_id": [ { "id": "ASSY_HUMAN", "url": "https://www.uniprot.org/uniprot/P00966", "type": "external" } ], "mass": 46530.0, "length": 412, "protein_name": "Argininosuccinate synthase", "gene_name": "ASS1", "organism": "Human", "refseq_name": "argininosuccinate synthase", "refseq_ac": [ { "id": "NP_000041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000041", "type": "external" } ], "gene_names_uniprotkb": "ASS1; ASS", "gene_names_refseq": "ASS1; ASS; CTLN1", "protein_names_uniprotkb": "Argininosuccinate synthase; 6.3.4.5; Citrulline--aspartate ligase", "protein_names_refseq": "argininosuccinate synthase; argininosuccinate synthetase 1; citrulline-aspartate ligase; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "classic citrullinemia (Disease Ontology:DOID:0070340); Alzheimer's disease (Disease Ontology:DOID:10652); uveitis (Disease Ontology:DOID:13141); melanoma (Disease Ontology:DOID:1909); hepatocellular carcinoma (Disease Ontology:DOID:684); citrullinemia (Disease Ontology:DOID:9273)", "pathway": " (hsa:445); (R-HSA-70635); (R-HSA-9956520)", "pathway_count": 3, "publication_count": 115, "publication_id_list": "10369256;10813810;11237011;11237854;11571557;11708871;11941481;12459178;12807890;12815590;12859189;12948741;14680976;15050968;15266621;15863597;16141327;16408927;16475226;1708740;17407445;17496144;17900240;18263583;18323623;18473344;18691976;18991276;19006241;1943692;19754428;20068231;22076378;2263616;23186163;2358466;23611581;23649895;24275569;24703693;24714562;24889030;25179242;25576301;26374642;26592762;26728094;26992070;27287393;27846572;27862975;2788888;27920218;28063628;28111830;28832583;28985504;29242379;29393594;29557506;29632046;3027451;30429286;30484775;30524438;31844290;32157095;32350084;32387766;32488085;32897882;32938616;33141586;33214551;33392160;33537174;33592498;33912179;33968037;33981976;34019948;34087483;34105348;34357683;34509645;34725712;34932366;35016033;35051231;35083852;35318648;35580925;36215666;36241641;36284347;36680390;36995581;37254538;37906139;37938771;39990658;518841;6194510;6249820;6321498;6372096;7649538;7977368;8792870;8898077;9150948;9256435;934749;9686347;9852088", "class_list": "", "function": "A survey of the correlation between mutations in the ASS1 gene and the respective clinical courses of citrullinemia type I as described so far (Review) Review article, [RefSeq, PubMed]; Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants., [RefSeq, PubMed]; Downregulation of argininosuccinate synthase 1 (ASS1) is associated with hypoxia in placental development., [RefSeq, PubMed]; One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues., [UniProtKB, PubMed, PubMed, PubMed]; Polymorphic Variants of ASS1 Gene Related to Arginine Metabolism and the Risk of HCC., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]., [RefSeq]; [Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 8, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q6LDL2;Q86UZ0;Q96GT4", "ec_number_list": [ { "id": "6.3.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.5", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0015643 toxic substance binding;GO:0042802 identical protein binding;GO:0016597 amino acid binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:0043204 perikaryon;GO:0070062 extracellular exosome", "go_biological_process": "GO:0071400 cellular response to oleic acid;GO:0071242 cellular response to ammonium ion;GO:0001889 liver development;GO:0007584 response to nutrient;GO:0010043 response to zinc ion", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "P00966-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02760-1", "uniprot_id": [ { "id": "AMBP_HUMAN", "url": "https://www.uniprot.org/uniprot/P02760", "type": "external" } ], "mass": 38999.0, "length": 352, "protein_name": "Protein AMBP", "gene_name": "AMBP", "organism": "Human", "refseq_name": "protein AMBP preproprotein", "refseq_ac": [ { "id": "NP_001624", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001624", "type": "external" } ], "gene_names_uniprotkb": "AMBP; HCP; ITIL", "gene_names_refseq": "A1M; AMBP; EDC1; HCP; HI30; IATIL; ITILC; ITIL; ITI; UTI", "protein_names_uniprotkb": "Protein AMBP; Alpha-1 microglycoprotein; Bikunin; Complex-forming glycoprotein heterogeneous in charge; EDC1; HI-30; Protein HC; Uronic-acid-rich protein", "protein_names_refseq": "bikunin; complex-forming glycoprotein heterogeneous in charge; growth-inhibiting protein 19; inter-alpha-trypsin inhibitor light chain; protein AMBP preproprotein; protein AMBP; protein HC; trypstatin; uristatin; uronic-acid-rich protein", "tax_id": 9606, "disease": "calcium oxalate nephrolithiasis (Disease Ontology:DOID:0080652); kidney failure (Disease Ontology:DOID:1074); adult respiratory distress syndrome (Disease Ontology:DOID:11394); pyelonephritis (Disease Ontology:DOID:11400); asthma (Disease Ontology:DOID:2841); acute kidney failure (Disease Ontology:DOID:3021)", "pathway": " (hsa:259); (R-HSA-2168880)", "pathway_count": 2, "publication_count": 102, "publication_id_list": "1008494;10381560;10480954;10631976;11058759;11196644;11237011;11877257;1252417;13342742;13472068;1469060;15037615;15448162;15452109;15542058;15683711;15697213;15917224;15947085;16046400;16140784;16189277;1646599;16778136;16873769;1694784;1696200;17008602;1708673;17102136;1714898;17845074;18556779;1898736;19324878;19650691;20430887;20463016;20920479;21356557;22096585;22171320;22492620;22512701;22922649;23090970;23157686;23642167;2408638;2428011;2430261;2476436;25301953;25326458;25698971;26598643;26992070;27862975;2806549;2833500;29557506;29632046;29741879;30237853;30459171;31154438;31844290;32092412;32337544;32823731;35051231;35580925;36213313;37074911;37453717;37861555;38665916;3890890;3891754;4074707;4327491;496916;5135507;6164372;6171497;6198962;6480598;6849882;7263686;7287740;7378053;7506257;7513643;7535251;7676539;7682553;8424694;8855948;9183005;9566199;971416", "class_list": "", "function": "Antioxidant and tissue repair protein with reductase, heme-binding and radical-scavenging activities. Removes and protects against harmful oxidants and repairs macromolecules in intravascular and extravascular spaces and in intracellular compartments (PubMed:11877257, PubMed:15683711, PubMed:22096585, PubMed:23157686, PubMed:23642167, PubMed:25698971, PubMed:32092412, PubMed:32823731). Intravascularly, plays a regulatory role in red cell homeostasis by preventing heme- and reactive oxygen species-induced cell damage. Binds and degrades free heme to protect fetal and adult red blood cells from hemolysis (PubMed:11877257, PubMed:32092412). Reduces extracellular methemoglobin, a Fe3+ (ferric) form of hemoglobin that cannot bind oxygen, back to the Fe2+ (ferrous) form deoxyhemoglobin, which has oxygen-carrying potential (PubMed:15683711). Upon acute inflammation, inhibits oxidation of low-density lipoprotein particles by MPO and limits vascular damage (PubMed:25698971). Extravascularly, protects from oxidation products formed on extracellular matrix structures and cell membranes. Catalyzes the reduction of carbonyl groups on oxidized collagen fibers and preserves cellular and extracellular matrix ultrastructures (PubMed:22096585, PubMed:23642167). Importantly, counteracts the oxidative damage at blood-placenta interface, preventing leakage of free fetal hemoglobin into the maternal circulation (PubMed:21356557). Intracellularly, has a role in maintaining mitochondrial redox homeostasis. Bound to complex I of the respiratory chain of mitochondria, may scavenge free radicals and preserve mitochondrial ATP synthesis. Protects renal tubule epithelial cells from heme-induced oxidative damage to mitochondria (PubMed:23157686, PubMed:32823731). Reduces cytochrome c from Fe3+ (ferric) to the Fe2+ (ferrous) state through formation of superoxide anion radicals in the presence of ascorbate or NADH/NADPH electron donor cofactors, ascorbate being the preferred cofactor (PubMed:15683711). Has a chaperone role in facilitating the correct folding of bikunin in the endoplasmic reticulum compartment (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Correlation between peripheral blood alpha1-MG, DNMT1 expression, and the severity of diabetic nephropathy renal pathological damage., [RefSeq, PubMed]; Kunitz-type serine protease inhibitor and structural component of extracellular matrix with a role in extracellular space remodeling and cell adhesion (PubMed:20463016, PubMed:25301953). Among others, has antiprotease activity toward kallikrein, a protease involved in airway inflammation; inhibits GZMK/granzyme, a granule-stored serine protease involved in NK and T cell cytotoxic responses; and inhibits PLG/plasmin, a protease required for activation of matrix metalloproteinases (PubMed:10480954, PubMed:15917224, PubMed:16873769). As part of I-alpha-I complex, provides for the heavy chains to be transferred from I-alpha-I complex to hyaluronan in the presence of TNFAIP6, in a dynamic process that releases free bikunin and remodels extracellular matrix proteoglycan structures. Free bikunin, but not its heavy chain-bound form, acts as potent protease inhibitor in airway secretions (PubMed:16873769). Part of hyaluronan-rich extracellular matrix that surrounds oocyte during cumulus oophorus expansion, an indispensable process for proper ovulation (By similarity). Also inhibits calcium oxalate crystallization (PubMed:7676539)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Kunitz-type serine protease inhibitor. Has high catalytic efficiency for F10/blood coagulation factor Xa and may act as an anticoagulant by inhibiting prothrombin activation. Inhibits trypsin and mast cell CMA1/chymase and tryptase proteases., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of lipocalin transport proteins and may play a role in the regulation of inflammatory processes, and bikunin, which is a urinary trypsin inhibitor belonging to the superfamily of Kunitz-type protease inhibitors and plays an important role in many physiological and pathological processes. This gene is located on chromosome 9 in a cluster of lipocalin genes. [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": 3, "reported_o_glycosites": 2, "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": 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": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 104, "disease_count": 6, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "P00977;P02759;P78491;Q2TU33;Q5TBD7;Q9UC58;Q9UDI8", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0042803 protein homodimerization activity;GO:0030246 carbohydrate binding;GO:0016491 oxidoreductase activity;GO:0020037 heme binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005743 mitochondrial inner membrane;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0007155 cell adhesion;GO:0007565 female pregnancy;GO:0046329 negative regulation of JNK cascade;GO:0030163 protein catabolic process;GO:0042167 heme catabolic process", "synthesized_glycan_count": 0, "hit_score": 21.5, "record_id": "P02760-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18089-1", "uniprot_id": [ { "id": "ADA2B_HUMAN", "url": "https://www.uniprot.org/uniprot/P18089", "type": "external" } ], "mass": 49954.0, "length": 450, "protein_name": "Alpha-2B adrenergic receptor", "gene_name": "ADRA2B", "organism": "Human", "refseq_name": "alpha-2B adrenergic receptor", "refseq_ac": [ { "id": "NP_000673", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000673", "type": "external" } ], "gene_names_uniprotkb": "ADRA2B; ADRA2L1; ADRA2RL1", "gene_names_refseq": "ADRA2B; ADRA2L1; ADRA2RL1; ADRARL1; ALPHA2BAR; FAME2; alpha-2BAR", "protein_names_uniprotkb": "Alpha-2B adrenergic receptor; Alpha-2 adrenergic receptor subtype C2; Alpha-2B adrenoceptor; Alpha-2B adrenoreceptor; Alpha-2BAR", "protein_names_refseq": "ADRA2B adrenergic, alpha-2B-, receptor; G-protein coupled receptor; alpha-2 adrenergic receptor subtype C2; alpha-2-adrenergic receptor-like 1; alpha-2B adrenergic receptor; alpha-2B adrenoreceptor", "tax_id": 9606, "disease": "familial adult myoclonic epilepsy 2 (Disease Ontology:DOID:0111692); hypertension (Disease Ontology:DOID:10763); myocardial infarction (Disease Ontology:DOID:5844); type 2 diabetes mellitus (Disease Ontology:DOID:9352); diabetic neuropathy (Disease Ontology:DOID:9743); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:151); (R-HSA-390696); (R-HSA-392023); (R-HSA-418594); (R-HSA-418597)", "pathway_count": 5, "publication_count": 65, "publication_id_list": "10215710;10321720;10531390;10954748;11007482;11056163;11313909;12106601;12120503;12428542;1328250;1347957;15037199;15655528;15951850;16480771;16634148;16923326;17052695;18434541;18577758;1939224;1980236;20871122;21118696;2164221;2172775;2173582;23105096;23148172;24114805;24890609;2534964;2570461;26811329;26992070;2748346;27901063;27965369;2823383;2825170;2834384;28400472;28502923;29069590;29557506;3025863;32152538;32385805;32387766;32983136;33900865;35051231;36010968;37525034;37805907;7559455;7595566;7746284;7937899;8015379;8396931;8406495;8564227;9605427", "class_list": "", "function": "ADRA2B and HTR1A: An Updated Study of the Biogenic Amine Receptors Reveals Novel Conserved Motifs Which Play Key Role in Mental Disorders., [RefSeq, PubMed]; ASSOCIATION BETWEEN GLN27GLU POLYMORPHISM IN THE Beta2 ADRENERGIC RECEPTOR GENE AND OBESITY RISK IN PATIENTS WITH EARLY-ONSET AND LATE-ONSET BRONCHIAL ASTHMA., [RefSeq, PubMed]; Alpha-2 adrenergic receptors are G protein-coupled receptors for catecholamines that activate G(i/o) protein pathway, thereby promoting adenylyl cyclase inhibition, ERK1/2 stimulation, and voltage-gated calcium channels suppression (PubMed:11056163, PubMed:2164221, PubMed:2172775, PubMed:23105096, PubMed:26811329). Control a variety of physiological processes, such as regulation of blood pressure, lipolysis and insulin release (PubMed:2164221). The rank order of potency for agonists of ADRA2B is clonidine > norepinephrine > epinephrine = oxymetazoline > dopamine > p-tyramine = phenylephrine > serotonin > p-synephrine / p-octopamine. For antagonists, the rank order is yohimbine > chlorpromazine > phentolamine > mianserine > spiperone > prazosin > alprenolol > propanolol > pindolol (PubMed:2164221, PubMed:2172775)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Alpha-2 beta-adrenergic receptor (301-303 I/D) gene polymorphism in hypertension and type 2 diabetes mellitus diseases among Saudi cases in the Qassim region., [RefSeq, PubMed]; Involvement of Histamine 2 Receptor in Alpha 1 Adrenoceptor Mediated Cardiac Hypertrophy and Oxidative Stress in H9c2 Cardio Myoblasts., [RefSeq, PubMed]; This intronless gene encodes a seven-pass transmembrane protein. This protein is a member of a subfamily of G protein-coupled receptors that regulate neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2RUS0;Q4TUH9;Q53RF2;Q9BZK0", "ec_number_list": [], "go_molecular_function": "GO:0004938 alpha2-adrenergic receptor activity;GO:0051379 epinephrine binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0003056 regulation of vascular associated smooth muscle contraction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007267 cell-cell signaling;GO:0043410 positive regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "P18089-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50583-1", "uniprot_id": [ { "id": "AP4A_HUMAN", "url": "https://www.uniprot.org/uniprot/P50583", "type": "external" } ], "mass": 16829.0, "length": 147, "protein_name": "Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]", "gene_name": "NUDT2", "organism": "Human", "refseq_name": "bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]", "refseq_ac": [ { "id": "NP_001152", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001152", "type": "external" } ], "gene_names_uniprotkb": "NUDT2; APAH1", "gene_names_refseq": "APAH1; IDDPN; NUDT2", "protein_names_uniprotkb": "Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]; 3.6.1.17; Ap4A hydrolase; Ap4Aase; Diadenosine 5',5'''-P1,P4-tetraphosphate asymmetrical hydrolase; Diadenosine tetraphosphatase; Nucleoside diphosphate-linked moiety X motif 2; Nudix motif 2", "protein_names_refseq": "Ap4A hydrolase 1; Ap4Aase; bis(5'-nucleosyl)-tetraphosphatase (asymmetrical); bis(5'-nucleosyl)-tetraphosphatase [asymmetrical]; diadenosine 5',5'''-P1,P4-tetraphosphate asymmetrical hydrolase; diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase; diadenosine tetraphosphatase; nucleoside diphosphate-linked moiety X motif 2; nudix (nucleoside diphosphate linked moiety X)-type motif 2; nudix motif 2", "tax_id": 9606, "disease": "intellectual developmental disorder with or without peripheral neuropathy (MONDO:MONDO:0859240)", "pathway": " (hsa:318); (R-HSA-3299685)", "pathway_count": 2, "publication_count": 89, "publication_id_list": "10029572;10514471;10521424;10656833;10833429;10919671;10982;11018045;11139407;11507097;11518528;11886899;11912930;12446202;12829378;15044467;15046979;15064408;15280035;15317809;15596429;15927447;16401067;16615992;1668270;16750198;16880213;17275676;17519234;1763037;17707404;18358825;18703498;18936159;19219623;19542232;1999334;20070187;20367259;20690882;2071038;21215271;21385867;21393238;21967640;22493009;22869735;22910329;23152058;23164639;23454490;23455484;25047527;27431290;28089905;30059600;31844290;32350084;32387766;33058507;33298915;33968037;33981976;34509645;3457020;34824277;35251023;3532102;3619451;3693360;37445693;38141063;5389100;60;6286671;6961438;7021796;7172448;7487923;807573;8379940;8428933;8452552;8663465;9295278;9369223;9639555;9726962;9923614", "class_list": "", "function": "Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease., [RefSeq, PubMed]; Catalyzes the asymmetric hydrolysis of diadenosine 5',5'''-P1,P4-tetraphosphate (Ap4A) to yield AMP and ATP (By similarity). Exhibits decapping activity towards FAD-capped RNAs and dpCoA-capped RNAs in vitro (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; NUDT2 initiates viral RNA degradation by removal of 5'-phosphates. Publication Status: Online-Only, [RefSeq, PubMed]; NUDT2 is a novel complex formation enhancing factor regulating mTORC1-Rag GTPase signaling that is crucial for cell growth control., [RefSeq, PubMed]; Role of Nudt2 in Anchorage-Independent Growth and Cell Migration of Human Melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and four transcript variants, all encoding the same protein, have been identified. [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": "D3DRM0;Q5T589", "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": "3.1.4.1", "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": "3.6.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.17", "type": "external" }, { "id": "3.6.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.62", "type": "external" }, { "id": "3.6.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.64", "type": "external" }, { "id": "3.6.1.68", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.68", "type": "external" }, { "id": "3.6.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.76", "type": "external" } ], "go_molecular_function": "GO:0005525 GTP binding;GO:0004081 bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity;GO:0008803 bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity", "go_cellular_component": "GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006754 ATP biosynthetic process;GO:0006915 apoptotic process;GO:0034599 cellular response to oxidative stress;GO:0006139 nucleobase-containing compound metabolic process;GO:0006167 AMP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "P50583-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55064-1", "uniprot_id": [ { "id": "AQP5_HUMAN", "url": "https://www.uniprot.org/uniprot/P55064", "type": "external" } ], "mass": 28292.0, "length": 265, "protein_name": "Aquaporin-5", "gene_name": "AQP5", "organism": "Human", "refseq_name": "aquaporin-5", "refseq_ac": [ { "id": "NP_001642", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001642", "type": "external" } ], "gene_names_uniprotkb": "AQP5", "gene_names_refseq": "AQP-5; AQP5; PPKB", "protein_names_uniprotkb": "Aquaporin-5; AQP-5", "protein_names_refseq": "aquaporin-5", "tax_id": 9606, "disease": "Bothnian type palmoplantar keratoderma (Disease Ontology:DOID:0111707); dry eye syndrome (Disease Ontology:DOID:10140); brain ischemia (Disease Ontology:DOID:2316)", "pathway": " (hsa:362); (R-HSA-432047)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "10510269;10564231;11001937;11027599;11034202;11076974;11231887;11532455;11573934;11952783;12084581;12801959;1373524;14514735;14592814;14701836;1510932;15703994;15948717;16325777;16407156;16571723;16596446;17178220;17374283;17920625;18042467;18202181;18478076;18501347;18511455;18555844;18678926;18762715;18768791;18948439;19144687;19170255;19383790;19574955;19590626;19857466;20147624;21251984;23359558;23473857;23830519;23867895;26569106;27983600;28665757;29557506;3049610;31277235;31684196;34087483;36706090;36766810;37718989;38047298;38527693;7510718;7530250;7535000;7678419;8140421;8621489;8812490;8855281;9369468;9405233;9806845;9829975", "class_list": "", "function": "A Role for Aquaporin-5 Variants in Regulation of the Actin Cytoskeleton in Non-Epidermolytic Palmoplantar Keratoderma., [RefSeq, PubMed]; Aquaporin 5 (AQP5) expression in breast cancer and its clinicopathological characteristics. Publication Status: Online-Only, [RefSeq, PubMed]; Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008]., [RefSeq]; Aquaporins form homotetrameric transmembrane channels, with each monomer independently mediating water transport across the plasma membrane along its osmotic gradient (PubMed:18768791, PubMed:8621489). Plays an important role in fluid secretion in salivary glands (By similarity). Required for TRPV4 activation by hypotonicity. Together with TRPV4, controls regulatory volume decrease in salivary epithelial cells (PubMed:16571723). Seems to play a redundant role in water transport in the eye, lung and in sweat glands (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Involvement of aquaporin 5 and Na-K-2Cl cotransporter 1 in the pathogenesis of primary focal hyperhidrosis: evidence from the primary sweat gland cell culture., [RefSeq, PubMed]; The Role of Aquaporin 5 (AQP5) in Lung Adenocarcinoma: A Review Article. Review article Publication Status: Online-Only, [RefSeq, PubMed]; We described a Chinese family with palmoplantar keratoderma Bothnia type in which we identified a gain-of-function mutation in AQP5., [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": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 7, "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": "Q6FGW8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0015250 water channel activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane;GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "GO:0071476 cellular hypotonic response;GO:0051289 protein homotetramerization;GO:0030157 pancreatic juice secretion;GO:0042476 odontogenesis;GO:0006833 water transport", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "P55064-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78348-2", "uniprot_id": [ { "id": "ASIC1_HUMAN", "url": "https://www.uniprot.org/uniprot/P78348", "type": "external" } ], "mass": 59909.0, "length": 528, "protein_name": "Acid-sensing ion channel 1", "gene_name": "ASIC1", "organism": "Human", "refseq_name": "acid-sensing ion channel 1 isoform b", "refseq_ac": [ { "id": "NP_001086", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001086", "type": "external" } ], "gene_names_uniprotkb": "ASIC1; ACCN2; BNAC2", "gene_names_refseq": "ACCN2; ASIC1; ASIC; BNaC2", "protein_names_uniprotkb": "Acid-sensing ion channel 1; ASIC1; Amiloride-sensitive cation channel 2, neuronal; Brain sodium channel 2", "protein_names_refseq": "Cation channel, amiloride-sensitive, neuronal, 2; acid sensing (proton gated) ion channel 1; acid-sensing ion channel 1 isoform b; acid-sensing ion channel 1a protein; amiloride-sensitive cation channel 2, neuronal; brain sodium channel 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:41); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 121, "publication_id_list": "10.1101/2023.09.13.557529;10564087;10642508;10720933;10767424;10798398;10830164;10831588;11182090;11279279;11588175;11687798;11734858;11802773;11842292;11904445;11956057;12244121;12393854;12578970;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15247234;15318163;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19091960;19153159;19307298;19380724;19387438;19620632;19654327;19808995;19953639;20388639;20466723;20525693;20538786;21036899;21040849;21527911;21984732;22002868;22760635;22773952;22946059;2298749;23034652;23112050;2321095;23616951;2536303;25880248;25892735;26359375;26562072;28071645;28154142;28327374;28790369;28904123;29393594;31530632;31844290;32157095;32897882;32915133;32938616;33981976;34319232;35051231;35251023;35561310;35580925;36241641;36545882;37931656;38306794;38627262;38987597;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "ASIC1 promotes migration and invasion of hepatocellular carcinoma via the PRKACA/AP-1 signaling pathway., [RefSeq, PubMed]; ASIC1/RIP1 accelerates atherosclerosis via disrupting lipophagy., [RefSeq, PubMed]; ASIC1a involves the acid-mediated activation of pancreatic stellate cells associated with autophagy induction., [RefSeq, PubMed]; Forms voltage-independent, pH-gated trimeric sodium channels that act as postsynaptic excitatory receptors in the nervous system, playing a crucial role in regulating synaptic plasticity, learning, and memory (PubMed:21036899, PubMed:32915133, PubMed:34319232). Upon extracellular pH drop this channel elicits transient, fast activating, and completely desensitizing inward currents (PubMed:21036899). Displays high selectivity for sodium ions but can also permit the permeation of other cations (PubMed:21036899). Regulates more or less directly intracellular calcium concentration and CaMKII phosphorylation, and thereby the density of dendritic spines. Modulates neuronal activity in the circuits underlying innate fear (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Functional expression of the proton sensors ASIC1a, TMEM206, and OGR1 together with BKCa channels is associated with cell volume changes and cell death under strongly acidic conditions in DAOY medulloblastoma cells., [RefSeq, PubMed]; Glutamate acts on acid-sensing ion channels to worsen ischaemic brain injury., [RefSeq, PubMed]; Has high selectivity for sodium ions, but can also be permeable to other cations including calcium, lithium and potassium., [UniProtKB, PubMed]; Has no measurable proton-gated sodium channel activity in vitro., [UniProtKB, PubMed]; Produces acid activated currents with a reduced amplitude and inactivates faster (PubMed:21036899). Has high selectivity for sodium ions but also supports a calcium-mediated current which is sustained and maintained as long as acidic conditions are present (PubMed:21036899). Also potentially permeable to lithium and potassium (PubMed:21036899)., [UniProtKB, PubMed]; This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [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": 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": 5, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 9562, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A3KN86;E5KBL7;P78349;Q96CV2", "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:0015280 ligand-gated sodium channel activity;GO:0022839 monoatomic ion-gated channel activity;GO:0160128 pH-gated monoatomic ion channel activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0030425 dendrite;GO:0098839 postsynaptic density membrane", "go_biological_process": "GO:0006816 calcium ion transport;GO:0035725 sodium ion transmembrane transport;GO:0006814 sodium ion transport;GO:0050915 sensory perception of sour taste;GO:0071467 cellular response to pH", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "P78348-2", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01484-4", "uniprot_id": [ { "id": "ANK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01484", "type": "external" } ], "mass": 433715.0, "length": 3957, "protein_name": "Ankyrin-2", "gene_name": "ANK2", "organism": "Human", "refseq_name": "ankyrin-2 isoform 3", "refseq_ac": [ { "id": "NP_001120965", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120965", "type": "external" } ], "gene_names_uniprotkb": "ANK2; ANKB", "gene_names_refseq": "ANK-2; ANK2; CFAP87; FAP87; LQT4; brank-2", "protein_names_uniprotkb": "Ankyrin-2; ANK-2; Ankyrin-B; Brain ankyrin; Non-erythroid ankyrin", "protein_names_refseq": "ankyrin 2, neuronal; ankyrin B; ankyrin, brain; ankyrin-2 isoform 3; ankyrin-2, nonerythrocytic; non-erythroid ankyrin", "tax_id": 9606, "disease": "sinoatrial node disease (Disease Ontology:DOID:0050824); atrial fibrillation (Disease Ontology:DOID:0060224); ankyrin-B-related cardiac arrhythmia (Disease Ontology:DOID:0111700); intellectual disability (Disease Ontology:DOID:1059); Alzheimer's disease (Disease Ontology:DOID:10652); autistic disorder (Disease Ontology:DOID:12849); sick sinus syndrome (Disease Ontology:DOID:13884); epilepsy (Disease Ontology:DOID:1826); transient cerebral ischemia (Disease Ontology:DOID:224); long QT syndrome (Disease Ontology:DOID:2843)", "pathway": " (hsa:287); (R-HSA-445095); (R-HSA-6807878)", "pathway_count": 3, "publication_count": 162, "publication_id_list": "10.1101/2023.09.13.557529;10052452;10318838;10445031;10559959;10679020;10761932;10903204;10921873;11035033;11172815;11222639;11285137;11306556;11461920;11689559;11703931;11726511;11748249;12047556;12070132;12388752;12571597;12634853;14654841;14742712;15037235;15178757;15262991;15345747;15611082;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16597699;16633337;16723730;1680566;16904324;16912714;16926190;16940185;16959974;17081983;17223356;17253781;17274799;17287340;17360540;17429068;17451557;17760859;17927562;17940615;17956946;18086915;18182008;18283113;1830053;1833308;18491316;18510355;18524849;18809720;1898986;19007774;19015319;19109418;19164740;19296914;19413330;1957170;19631211;19758564;20068231;20357002;20427317;20637885;21219331;21689688;21844168;22013193;22094269;22304919;22411828;23839779;24119662;24275569;24806965;25436559;25492864;25502872;25576301;25645385;26992070;27600516;27862975;28228285;28649982;28657654;28834231;28904123;29437277;29557506;30315122;30379171;30429286;31154438;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32938616;32983136;33298915;33410423;33717175;33912179;33968037;34087483;34185709;34509645;35051231;35561310;35580925;36010968;36284347;37074911;37195288;37938771;38507076;7691276;8001155;8128252;8132710;8221884;8253837;8253844;8505331;8620540;8636227;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9671725;9751720;9990005", "class_list": "", "function": "ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks., [RefSeq, PubMed]; Human ankyrins and their contribution to disease biology: An update. Review article, [RefSeq, PubMed]; Phenotypic spectrum of tinnitus patients bearing rare ANK2 gene variants., [RefSeq, PubMed]; Plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in several cell types, including cardiomyocytes, as well as in striated muscle cells. In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions. In cardiomyocytes, required for coordinate assembly of Na/Ca exchanger, SLC8A1/NCX1, Na/K ATPases ATP1A1 and ATP1A2 and inositol 1,4,5-trisphosphate (InsP3) receptors at sarcoplasmic reticulum/sarcolemma sites. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate (PubMed:12571597). In the inner segment of rod photoreceptors, required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) (By similarity). Plays a role in endocytosis and intracellular protein transport. Associates with phosphatidylinositol 3-phosphate (PI3P)-positive organelles and binds dynactin to promote long-range motility of cells. Recruits RABGAP1L to (PI3P)-positive early endosomes, where RABGAP1L inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous directional cell migration (By similarity)., [UniProtKB, UniProtKB, PubMed]; This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [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": 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": 68, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 173, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 10, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q01485;Q08AC7;Q08AC8;Q7Z3L5", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0019899 enzyme binding;GO:0019901 protein kinase binding;GO:0030674 protein-macromolecule adaptor activity;GO:0051117 ATPase binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0010628 positive regulation of gene expression;GO:0015031 protein transport;GO:0072659 protein localization to plasma membrane;GO:0006874 intracellular calcium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 17.4, "record_id": "Q01484-4", "record_type": "protein", "filter_code": "0000000.1100111.001000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12955-3", "uniprot_id": [ { "id": "ANK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12955", "type": "external" } ], "mass": 480410.0, "length": 4377, "protein_name": "Ankyrin-3", "gene_name": "ANK3", "organism": "Human", "refseq_name": "ankyrin-3 isoform 2", "refseq_ac": [ { "id": "NP_001140", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001140", "type": "external" } ], "gene_names_uniprotkb": "ANK3", "gene_names_refseq": "ANK3; ANKYRIN-G; MRT37", "protein_names_uniprotkb": "Ankyrin-3; ANK-3; Ankyrin-G", "protein_names_refseq": "ankyrin 3, node of Ranvier (ankyrin G); ankyrin-3 isoform 2", "tax_id": 9606, "disease": "alcohol-related birth defects (Disease Ontology:DOID:0050668); autosomal recessive intellectual developmental disorder 37 (Disease Ontology:DOID:0081202); status epilepticus (Disease Ontology:DOID:1824); post-traumatic stress disorder (Disease Ontology:DOID:2055); bipolar disorder (Disease Ontology:DOID:3312); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:288); (R-HSA-445095); (R-HSA-6807878); (R-HSA-9768727)", "pathway_count": 4, "publication_count": 186, "publication_id_list": "10052452;10318838;10445031;10559959;10679020;10761932;10903204;10921873;11035033;11172815;11222639;11230166;11285137;11306556;11461920;11689559;11703931;11726511;11748249;11781319;12047556;12070132;12388752;12634853;14654841;14742712;15037235;15579534;15611082;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16597699;16633337;16723730;1680566;16904324;16912714;16926190;16940185;17223356;17253781;17261850;17274799;17287340;17322306;17360540;17429068;17451557;17760859;17927562;17956946;18086915;18182008;18283113;18452278;18491227;18524849;18767875;18809720;1898986;19015319;19109418;19164740;19296914;19413330;1957170;19631211;19651622;19758564;19901323;20068231;20166139;20357002;20427317;20637885;21219331;21223964;21406692;21689688;21844168;22013193;22094269;22304919;22375065;22865819;22869377;23186163;23390136;23481700;23839779;23903368;24119662;24275569;24681004;24715725;24806965;24966173;25307106;25436559;25492864;25645385;25950943;25966638;26416966;26992070;27255086;27862975;27920218;28228285;28411811;28512129;28657654;28832583;29242379;29351928;29493099;29557506;29786170;29789417;30379171;30410026;30429286;30779550;30833945;31154438;31844290;31848261;32161166;32357974;32387766;32938616;32983136;33091337;33141586;33298915;33592498;33968037;34087483;34105348;34211107;34357683;34509645;35051231;35318648;35561310;35580925;36010968;36284347;37620394;37891324;37938771;38657895;38702695;38988293;7691276;7836469;7982500;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8666667;8940148;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9671725;9751720;9990005", "class_list": "", "function": "ANK3 rs10994336 and ZNF804A rs7597593 polymorphisms: genetic interaction for emotional and behavioral symptoms of alcohol withdrawal syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]., [RefSeq]; Dynamic interactions between E-cadherin and Ankyrin-G mediate epithelial cell polarity maintenance. Publication Status: Online-Only, [RefSeq, PubMed]; Effects of CACNA1C and ANK3 on cognitive function in patients with bipolar disorder., [RefSeq, PubMed]; Expression of ANK3 moderates the association between childhood trauma and affective traits in severe mental disorders. Publication Status: Online-Only, [RefSeq, PubMed]; May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin., [UniProtKB]; Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments (PubMed:7836469). In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption (PubMed:23903368). Required for intracellular adhesion and junctional conductance in myocytes, potentially via stabilization of GJA1/CX43 protein abundance and promotion of PKP2, GJA1/CX43, and SCN5A/Nav1.5 localization to cell-cell junctions (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The ankyrin-B C-terminal domain determines activity of ankyrin-B/G chimeras, [RefSeq, PubMed]; The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 49, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 49, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 49, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 40, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 172, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 49, "binding_glycan_count": 0, "secondary_ac_list": "B1AQT2;B4DIL1;E9PE32;Q13484;Q5CZH9;Q5VXD5;Q7Z3G4;Q9H0P5", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0030674 protein-macromolecule adaptor activity;GO:0017080 sodium channel regulator activity;GO:0044325 transmembrane transporter binding;GO:0030507 spectrin binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0099612 protein localization to axon;GO:0007009 plasma membrane organization;GO:0007165 signal transduction;GO:0007409 axonogenesis;GO:0007528 neuromuscular junction development", "synthesized_glycan_count": 0, "hit_score": 23.7, "record_id": "Q12955-3", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2VPB7-1", "uniprot_id": [ { "id": "AP5B1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2VPB7", "type": "external" } ], "mass": 93949.0, "length": 878, "protein_name": "AP-5 complex subunit beta-1", "gene_name": "AP5B1", "organism": "Human", "refseq_name": "AP-5 complex subunit beta-1", "refseq_ac": [ { "id": "NP_612377", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612377", "type": "external" } ], "gene_names_uniprotkb": "AP5B1; PP1030", "gene_names_refseq": "AP-5; AP5B1; PP1030", "protein_names_uniprotkb": "AP-5 complex subunit beta-1; Adaptor-related protein complex 5 beta subunit; Beta5", "protein_names_refseq": "AP-5 complex subunit beta-1; AP-5 complex subunit beta; adaptor related protein complex 5 beta 1 subunit; adaptor-related protein complex 5 beta subunit; beta5", "tax_id": 9606, "disease": "", "pathway": " (hsa:91056)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "15498874;20613862;22022230;23481700;23825025;24715725;25576301;25645385;26154972;26992070;27392064;27846572;27862975;27920218;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632711;29786170;30315122;30410026;30429286;30524438;30779550;31154438;31530632;31844290;31848261;32157095;32161166;32387766;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33936100;33968037;33981976;34087483;34171305;34509645;34932366;35051231;35580925;36010968;36215666;36241641", "class_list": "", "function": "AP-5 is an evolutionarily ancient complex, which is involved in endosomal sorting, and which has links with hereditary spastic paraplegia. Erratum:[PLoS Biol. 2012 Mar;10(3). doi: 10.1371/annotation/89dff893-c156-44bb-a731-bfcc91843583], [RefSeq, PubMed]; As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport., [UniProtKB, PubMed]; HIV-2 particle release was dependent on the adaptor protein complex AP-3 and the newly identified AP-5 complex, but much less so on AP-1. Publication Status: Online-Only, [RefSeq, PubMed]; We propose AP-5, SPG15, SPG11 form a coat-like complex, with AP-5 involved in protein sorting, SPG15 facilitating docking of the coat onto membranes by interacting with PI3P via its FYVE domain, and SPG11 (possibly together with SPG15) forming a scaffold., [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": 0, "reported_glycation": 0, "reported_snv": 8, "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": "A1L0S6;H6WUK2;Q0D2Q2;Q8N3J7;Q8WYH6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0005770 late endosome;GO:0030119 AP-type membrane coat adaptor complex", "go_biological_process": "GO:0015031 protein transport;GO:0007040 lysosome organization;GO:0016197 endosomal transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q2VPB7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VYY1-1", "uniprot_id": [ { "id": "ANR22_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VYY1", "type": "external" } ], "mass": 21849.0, "length": 191, "protein_name": "Ankyrin repeat domain-containing protein 22", "gene_name": "ANKRD22", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 22", "refseq_ac": [ { "id": "NP_653191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653191", "type": "external" } ], "gene_names_uniprotkb": "ANKRD22", "gene_names_refseq": "ANKRD22", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 22", "protein_names_refseq": "ankyrin repeat domain-containing protein 22", "tax_id": 9606, "disease": "", "pathway": " (hsa:118932)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "16385451;25576301;26992070;28667340;29557506;29786170;30429286;30779550;31154438;31903135;32983136;33537174;34185709;34584137;35580925;37164633;37586180", "class_list": "", "function": "ANKRD22 exhibits oncogene activity that promotes tumor progression in NSCLC through the transcriptional regulation of E2F1. Publication Status: Online-Only, [RefSeq, PubMed]; ANKRD22 is an N-myristoylated hairpin-like monotopic membrane protein specifically localized to lipid droplets. Publication Status: Online-Only, [RefSeq, PubMed]; ANKRD22 knockdown suppresses papillary thyroid cell carcinoma growth and migration and modulates the Wnt/beta-catenin signaling pathway., [RefSeq, PubMed]; ANKRD22 promotes glioma proliferation, migration, invasion, and epithelial-mesenchymal transition by upregulating E2F1-mediated MELK expression., [RefSeq, PubMed]; ANKRD22, a novel tumor microenvironment-induced mitochondrial protein promotes metabolic reprogramming of colorectal cancer cells. 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": 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": "B2R9Y7;Q8WU06", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q5VYY1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68DC2-1", "uniprot_id": [ { "id": "ANKS6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68DC2", "type": "external" } ], "mass": 92219.0, "length": 871, "protein_name": "Ankyrin repeat and SAM domain-containing protein 6", "gene_name": "ANKS6", "organism": "Human", "refseq_name": "ankyrin repeat and SAM domain-containing protein 6", "refseq_ac": [ { "id": "NP_775822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775822", "type": "external" } ], "gene_names_uniprotkb": "ANKS6; ANKRD14; PKDR1; SAMD6", "gene_names_refseq": "ANKRD14; ANKS6; NPHP16; PKDR1; SAMD6", "protein_names_uniprotkb": "Ankyrin repeat and SAM domain-containing protein 6; Ankyrin repeat domain-containing protein 14; SAM domain-containing protein 6; SamCystin; Sterile alpha motif domain-containing protein 6", "protein_names_refseq": "SAM domain-containing protein 6; ankyrin repeat and SAM domain-containing protein 6; ankyrin repeat domain 14; samCystin", "tax_id": 9606, "disease": "visceral heterotaxy (Disease Ontology:DOID:0050545); polycystic kidney disease (Disease Ontology:DOID:0080322); nephronophthisis 16 (Disease Ontology:DOID:0111124); uremia (Disease Ontology:DOID:4676); proteinuria (Disease Ontology:DOID:576)", "pathway": " (hsa:203286)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;16207829;18434273;18669648;18978678;19413330;23186163;23793029;24998259;26967905;29242379;29485866;29632711;30315122;30379171;30429286;30779550;31844290;32157095;32161166;32350084;32387766;32938616;33912179;33936100;33968037;33981976;34740236;35051231;35251023", "class_list": "", "function": "ANKS6 as a new NPHP family member that assembles a distinct module of nephronophthisis-associated proteins, encompassing NEK8, INVS and NPHP3., [RefSeq, PubMed]; Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation., [RefSeq, PubMed]; Location, sequence and structure of the gene encoding human SamCystin have been determined., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Required for renal function., [UniProtKB, PubMed]; This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "reported_glycation": 0, "reported_snv": 8, "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": "A0SE62;Q5VSL0;Q5VSL2;Q5VSL3;Q5VSL4;Q68DB8;Q6P2R2;Q8N9L6;Q96D62", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0097543 ciliary inversin compartment", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q68DC2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IWH7-1", "uniprot_id": [ { "id": "ANO7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IWH7", "type": "external" } ], "mass": 105532.0, "length": 933, "protein_name": "Anoctamin-7", "gene_name": "ANO7", "organism": "Human", "refseq_name": "anoctamin-7 isoform 2", "refseq_ac": [ { "id": "NP_001001666", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001666", "type": "external" } ], "gene_names_uniprotkb": "ANO7; NGEP; PCANAP5; TMEM16G", "gene_names_refseq": "ANO7; D-TMPP; DTMPP; IPCA-5; IPCA5; NGEP; PCANAP5L; PCANAP5; TMEM16G", "protein_names_uniprotkb": "Anoctamin-7; D-TMPP; Dresden transmembrane protein of the prostate; IPCA-5; New gene expressed in prostate; Prostate cancer-associated protein 5; Transmembrane protein 16G", "protein_names_refseq": "Dresden-transmembrane protein of the prostate; anoctamin-7 isoform 2; prostate cancer associated protein 5; transmembrane protein 16G", "tax_id": 9606, "disease": "", "pathway": " (hsa:50636); (R-HSA-2672351); (R-HSA-9733458)", "pathway_count": 3, "publication_count": 134, "publication_id_list": "10.1101/2023.09.13.557529;10564087;10613842;10642508;10720933;10767424;10830164;10831588;11182090;11237011;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12907679;1379744;14584882;14634667;14981236;15010458;15044642;15147738;15318163;15375614;15504734;15505377;15761874;15916532;15919655;16219661;16813530;16849430;16850186;17308099;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18676855;18724360;19153159;19307298;19380724;19387438;19495750;19620632;19808995;19953639;20056604;20388639;20466723;20525693;20538786;21040849;21527911;21607626;21642943;21984732;22002868;22075693;22302790;22773952;22946059;2298749;23112050;2321095;23616951;2536303;26359375;26562072;28071645;28154142;28790369;30157291;30524438;31092671;32125455;32176628;32362314;32488085;32512386;32532959;32703818;32721790;32942285;33051876;33310888;33493182;33494095;33581114;33628598;33827113;33890572;34185709;34213849;34504087;34528721;34561887;34561969;34613786;34732583;34929169;35043958;35051231;35343766;36674564;38838015;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "ANO7 genotypes correlate with expression and biochemical relapse, suggesting that ANO7 is a potential PrCa susceptibility gene and that its elevated expression correlates with disease severity and outcome., [RefSeq, PubMed]; Complete coding sequence of TMEM16G cDNA was determined by assembling 25 exons of TMEM16G gene, [RefSeq, PubMed]; Description of the novel prostate-restricted molecule D-TMPP widely expressed in prostate cancer tissues, [RefSeq, PubMed]; Expressed only in prostate and prostate camcer is a promising target for the antibody-based therapies of prostate cancer, [RefSeq, PubMed]; Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity (PubMed:22075693). May play a role in cell-cell interactions (PubMed:17308099)., [UniProtKB, UniProtKB, PubMed, PubMed]; NGEP is a glycoprotein with predicted glycosylation sites at N809 and N824. When these residues were converted to glutamine, glycosylation was abolished, confirming that the residues are extracellular, [RefSeq, PubMed]; Reduced anoctamin 7 (ANO7) expression is a strong and independent predictor of poor prognosis in prostate cancer., [RefSeq, PubMed]; The interactome of the prostate-specific protein Anoctamin 7., [RefSeq, PubMed]; The variant rs77559646 associated with aggressive prostate cancer disrupts ANO7 mRNA splicing and protein expression., [RefSeq, PubMed]; This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011]., [RefSeq]; Transcripts of the Prostate Cancer-Associated Gene ANO7 Are Retained in the Nuclei of Prostatic Epithelial Cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "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": 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": 14, "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": "Q6IWH6", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" } ], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0005229 intracellularly calcium-gated chloride channel activity;GO:0005254 chloride channel activity;GO:0017128 phospholipid scramblase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070161 anchoring junction;GO:0016020 membrane", "go_biological_process": "GO:0034220 monoatomic ion transmembrane transport;GO:1902476 chloride transmembrane transport;GO:0061588 calcium activated phospholipid scrambling", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "Q6IWH7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UB98-1", "uniprot_id": [ { "id": "ANR12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UB98", "type": "external" } ], "mass": 235652.0, "length": 2062, "protein_name": "Ankyrin repeat domain-containing protein 12", "gene_name": "ANKRD12", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 12 isoform 2", "refseq_ac": [ { "id": "NP_001077094", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077094", "type": "external" } ], "gene_names_uniprotkb": "ANKRD12; ANCO2; KIAA0874", "gene_names_refseq": "ANCO-2; ANCO1; ANKRD12; GAC-1; Nbla00144", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 12; Ankyrin repeat-containing cofactor 2; GAC-1 protein", "protein_names_refseq": "ankyrin repeat domain-containing protein 12 isoform 2; ankyrin repeat domain-containing protein 12; ankyrin repeat-containing cofactor 2; ankyrin repeats containing cofactor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23253)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "11237011;15184363;18088087;18377363;18669648;20112406;22645359;23186163;23718802;25576301;25892735;26375851;26811146;26992070;27862975;28031159;28218747;28514659;28832583;28904123;29242379;29393594;29437277;29463886;29493099;29557506;29632046;29769354;30379171;30410026;30429286;30779550;31154438;31185953;31217245;31844290;31848261;32157095;32161166;32357974;32387766;32897882;32938616;32983136;33592498;33717175;33912179;33968037;34171305;35051231;35561310;35580925;36010968;40136647", "class_list": "", "function": "ADA3 is a newly identified target of the ANCO proteins, which may modulate co-activator function in a transcription-factor-specific manner, [RefSeq, PubMed]; May recruit HDACs to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation., [UniProtKB]; Study revealed that ANKRD12 mRNA were down regulated in CRC tumor tissues and low ANKRD12 expression was correlated with liver metastasis and poor survival of CRC patients. Publication Status: Online-Only, [RefSeq, PubMed]; These results suggest that circANKRD12 could be involved in a diverse set of functions ranging from cell cycle arrest, tumor invasion to immune modulation. Manipulating the levels of circANKRD12 can regulate molecular functions by altering different signaling pathways and modifies the phenotype of the cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the ankyrin repeats-containing cofactor family. These proteins may inhibit the transcriptional activity of nuclear receptors through the recruitment of histone deacetylases. The encoded protein interacts with p160 coactivators and also represses transcription mediated by the coactivator alteration/deficiency in activation 3 (ADA3). Alternatively spliced transcript variants encoding multiple isoforms have been observed 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": 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": 53, "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": "O94951;Q658K1;Q6QMF7;Q9H231;Q9H784", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q6UB98-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6VUC0-1", "uniprot_id": [ { "id": "AP2E_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6VUC0", "type": "external" } ], "mass": 46212.0, "length": 442, "protein_name": "Transcription factor AP-2-epsilon", "gene_name": "TFAP2E", "organism": "Human", "refseq_name": "transcription factor AP-2-epsilon", "refseq_ac": [ { "id": "NP_848643", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848643", "type": "external" } ], "gene_names_uniprotkb": "TFAP2E", "gene_names_refseq": "AP-2epsilon; AP2E; TFAP2E", "protein_names_uniprotkb": "Transcription factor AP-2-epsilon; AP2-epsilon; Activating enhancer-binding protein 2-epsilon", "protein_names_refseq": "AP2-epsilon; activating enhancer-binding protein 2-epsilon; adaptor-related protein complex 2, epsilon subunit; transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon); transcription factor AP-2-epsilon", "tax_id": 9606, "disease": "sleep disorder (Disease Ontology:DOID:535)", "pathway": " (hsa:339488); (R-HSA-8866904); (R-HSA-8866907)", "pathway_count": 3, "publication_count": 19, "publication_id_list": "11694877;11744733;12586840;14636996;15548692;16698963;19115315;1998122;2010091;20862309;22216841;23331625;23382213;25645385;28260105;29535127;31115533;33968037;38773108", "class_list": "", "function": "AP-2epsilon indirectly interacts with the core promoter of COL2A1 and subsequently inhibits its transcriptional activity, thus modulating cartilage development., [RefSeq, PubMed]; In the present study, it was demonstrated that hypermethylation of TFAP2E resulted in its reduced expression and 5FU chemoresistance in gastric cancer (GC) cells. miRNAs miR106a5p and miR421 were highly expressed and regulated the chemoresistance induced by TFAP2E methylation., [RefSeq, PubMed]; Results showed that lower expression levels of TFAP2E are significantly associated with a shorter survival of patients with neuroblastoma indicating that TFAP2E acts as a tumor suppressor of neuroblastoma., [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. AP-2-epsilon may play a role in the development of the CNS and in cartilage differentiation (By similarity)., [UniProtKB]; TFAP2E hypermethylation is associated with clinical nonresponsiveness to chemotherapy in colorectal cancer., [RefSeq, PubMed]; TFAP2E methylation and expression may not play a major role in predicting response to 5-FU-based chemotherapy in patients with colorectal cancer., [RefSeq, PubMed]; These findings reveal that Tfap2 activity, mediated redundantly by Tfap2a and Tfap2e, promotes melanophore differentiation in parallel with Mitf by an effector other than Kit. Publication Status: Online-Only, [RefSeq, PubMed]; Transcription factor activating enhancer-binding protein 2epsilon (AP2epsilon) modulates phenotypic plasticity and progression of malignant melanoma. 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": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8IW12", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO: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:0042127 regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q6VUC0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q719I0-1", "uniprot_id": [ { "id": "AHSA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q719I0", "type": "external" } ], "mass": 33806.0, "length": 299, "protein_name": "Putative activator of 90 kDa heat shock protein ATPase homolog 2", "gene_name": "AHSA2P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "AHSA2P; AHSA2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative activator of 90 kDa heat shock protein ATPase homolog 2; Activator of HSP90 ATPase homolog 2 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "12504007;16959974;29242379;35051231", "class_list": "", "function": "Co-chaperone that stimulates HSP90 ATPase activity., [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KS51;D6W5E0;Q8NDU5", "ec_number_list": [], "go_molecular_function": "GO:0051087 protein-folding chaperone binding;GO:0001671 ATPase activator activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q719I0-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q75V66-1", "uniprot_id": [ { "id": "ANO5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q75V66", "type": "external" } ], "mass": 107188.0, "length": 913, "protein_name": "Anoctamin-5", "gene_name": "ANO5", "organism": "Human", "refseq_name": "anoctamin-5 isoform b", "refseq_ac": [ { "id": "NP_001136121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136121", "type": "external" } ], "gene_names_uniprotkb": "ANO5; GDD1; TMEM16E", "gene_names_refseq": "ANO5; GDD1; LGMD2L; LGMDR12; TMEM16E", "protein_names_uniprotkb": "Anoctamin-5; Gnathodiaphyseal dysplasia 1 protein; Transmembrane protein 16E", "protein_names_refseq": "anoctamin-5 isoform b; gnathodiaphyseal dysplasia 1 protein; integral membrane protein GDD1; transmembrane protein 16E", "tax_id": 9606, "disease": "Miyoshi muscular dystrophy 3 (Disease Ontology:DOID:0070201); autosomal recessive limb-girdle muscular dystrophy type 2L (Disease Ontology:DOID:0110284); isolated elevated serum creatine phosphokinase levels (Disease Ontology:DOID:0111338); gnathodiaphyseal dysplasia (Disease Ontology:DOID:0111533)", "pathway": " (hsa:203859); (R-HSA-2672351); (R-HSA-9733458); (R-HSA-9769739)", "pathway_count": 4, "publication_count": 201, "publication_id_list": "10.1101/2023.09.13.557529;10026158;10564087;10642508;10720933;10767424;10830164;10831588;11035113;11182090;11237011;11238108;11588175;11687798;11734858;11833835;11842292;11904445;11956057;12052963;12393854;12907439;12907679;1379744;14584882;14634667;15010458;15044642;15067359;15124103;15147738;15318163;15504734;15505377;15916532;15919655;16161994;1618828;16219661;16619025;16813530;16849430;16850186;17381423;17448995;17506785;17598008;17635713;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;1902833;19153159;19297154;1930190;19307298;19380724;19387438;19620632;19808995;19953639;20056604;20096397;20388639;20427285;20466723;20525693;20538786;21040849;21527911;21607626;21642943;21932952;21984732;22002868;22075693;22144186;22302790;22424782;22499103;22618708;2271516;22773952;22786881;22946059;2298749;23047743;23112050;2321095;23481700;23616951;23683607;2384594;24554904;2536303;2538457;25713144;25855704;25864073;25891276;25892735;26154972;26359375;26375851;26562072;27216912;27846572;27920218;28071645;28154142;28228285;28514659;28790369;28832583;29419409;29508533;29557506;29632046;29769354;30429286;30918026;31154438;31217245;31262782;31439947;31844290;31937595;32125455;32350084;32362314;32387766;32502341;32512386;32532959;32703818;32721790;32925086;32938616;32942285;33051876;33141586;33310888;33493182;33494095;33496727;33581114;33717175;33827113;33890572;34211107;34213849;34504087;34528721;34561887;34561969;34613786;34732583;34929169;34932366;35051231;35343766;35580925;36010968;36157935;36913258;36951953;3744129;37649308;37726033;3863104;6323392;7499257;7588753;7665160;7795595;8041726;8112288;8144529;8383669;8533761;8544406;8626462;8639781;8809036;9037075;9218519;9395096;9459334;9469622;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Anoctamin 5 regulates the cell cycle and affects prognosis in gastric cancer., [RefSeq, PubMed]; Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort., [RefSeq, PubMed]; Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review. Review article, [RefSeq, PubMed]; Plays a role in plasma membrane repair in a process involving annexins (PubMed:33496727). Does not exhibit calcium-activated chloride channel (CaCC) activity., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 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": 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": 43, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "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:0005789 endoplasmic reticulum membrane;GO:0031982 vesicle", "go_biological_process": "GO:0001778 plasma membrane repair;GO:0034220 monoatomic ion transmembrane transport;GO:0045332 phospholipid translocation;GO:1902476 chloride transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 20.4, "record_id": "Q75V66-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7LC44-1", "uniprot_id": [ { "id": "ARC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7LC44", "type": "external" } ], "mass": 45316.0, "length": 396, "protein_name": "Activity-regulated cytoskeleton-associated protein", "gene_name": "ARC", "organism": "Human", "refseq_name": "activity-regulated cytoskeleton-associated protein", "refseq_ac": [ { "id": "NP_056008", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056008", "type": "external" } ], "gene_names_uniprotkb": "ARC; KIAA0278", "gene_names_refseq": "ARC; Arg3.1; hArc", "protein_names_uniprotkb": "Activity-regulated cytoskeleton-associated protein; ARC/ARG3.1; Activity-regulated gene 3.1 protein homolog; Arg3.1; hArc", "protein_names_refseq": "ARC/ARG3.1; activity-regulated cytoskeleton-associated protein; activity-regulated gene 3.1 protein homolog", "tax_id": 9606, "disease": "withdrawal disorder (Disease Ontology:DOID:0060001); anxiety disorder (Disease Ontology:DOID:2030); morphine dependence (Disease Ontology:DOID:2560); middle cerebral artery infarction (Disease Ontology:DOID:3525)", "pathway": " (hsa:23237); (R-HSA-9031628)", "pathway_count": 2, "publication_count": 139, "publication_id_list": "10203854;10381005;10611221;10611312;10656257;10734128;10826704;10872467;10882540;10970730;10984481;11018254;11027551;11280768;11331872;11343657;11567222;11755530;11840323;11956230;12399542;12511643;1377233;14522948;14597720;14969744;15102911;15161978;15449318;15542842;15620361;1570299;15733869;15836632;15880109;16034366;16136673;16187211;16221685;16260776;16287845;16339507;16407550;16484497;16574654;16732277;17088210;17088211;17088212;17120280;17632064;17898216;18056528;18088355;18160048;1833716;18456662;18524893;1861162;19061646;19116276;19193899;19194657;19926875;2017159;2040600;20506119;2052361;2072895;21057636;2109185;21326363;21486943;21621608;21834987;22053691;22065583;22302795;2237820;24060757;24945773;25248477;25569790;25748042;26018600;2676516;27041596;27128622;27220739;28076410;28275114;28286024;28670266;29557506;29559111;31154438;3127059;31844290;34171305;35051231;3672127;36796600;37714058;37820952;38552740;7551568;7592934;7595538;7608156;7624335;7777577;7823924;7857651;7871435;7876254;7923378;8090221;8090222;8248782;8413279;8483478;8576248;8583621;8668170;8756618;8846918;8918830;9032251;9084409;9343422;9390517;9418898;9622090;9722618;9770464;9774344;9808461;9822744;9858769", "class_list": "", "function": "Arc regulates brain damage and neuroinflammation via Sirt1 signaling following subarachnoid hemorrhage., [RefSeq, PubMed]; Arc/MS2 mRNA assembles into particles that move independently, bidirectionally, and intermittently. These observations identify several phases of Arc mRNA movement that serve as potential points for regulating Arc mRNA localization., [RefSeq, PubMed]; Gut-derived 4-hydroxyphenylacetic acid attenuates sepsis-induced acute kidney injury by upregulating ARC to inhibit necroptosis., [RefSeq, PubMed]; Master regulator of synaptic plasticity that self-assembles into virion-like capsids that encapsulate RNAs and mediate intercellular RNA transfer in the nervous system. ARC protein is released from neurons in extracellular vesicles that mediate the transfer of ARC mRNA into new target cells, where ARC mRNA can undergo activity-dependent translation. ARC capsids are endocytosed and are able to transfer ARC mRNA into the cytoplasm of neurons. Acts as a key regulator of synaptic plasticity: required for protein synthesis-dependent forms of long-term potentiation (LTP) and depression (LTD) and for the formation of long-term memory. Regulates synaptic plasticity by promoting endocytosis of AMPA receptors (AMPARs) in response to synaptic activity: this endocytic pathway maintains levels of surface AMPARs in response to chronic changes in neuronal activity through synaptic scaling, thereby contributing to neuronal homeostasis. Acts as a postsynaptic mediator of activity-dependent synapse elimination in the developing cerebellum by mediating elimination of surplus climbing fiber synapses. Accumulates at weaker synapses, probably to prevent their undesired enhancement. This suggests that ARC-containing virion-like capsids may be required to eliminate synaptic material. Required to transduce experience into long-lasting changes in visual cortex plasticity and for long-term memory (By similarity). Involved in postsynaptic trafficking and processing of amyloid-beta A4 (APP) via interaction with PSEN1 (By similarity). In addition to its role in synapses, also involved in the regulation of the immune system: specifically expressed in skin-migratory dendritic cells and regulates fast dendritic cell migration, thereby regulating T-cell activation (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; NMDA Receptor-Arc Signaling Is Required for Memory Updating and Is Disrupted in Alzheimer's Disease. Erratum:[Biol Psychiatry. 2023 Nov 1;94(9):760. doi: 10.1016/j.biopsych.2023.08.012. PMID: 37778866], [RefSeq, PubMed]; Tau regulates Arc stability in neuronal dendrites via a proteasome-sensitive but ubiquitin-independent pathway., [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": 6, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 11, "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": "Q9UJW6;Q9Y469", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane", "go_biological_process": "GO:1900452 regulation of long-term synaptic depression;GO:0110077 vesicle-mediated intercellular transport;GO:0006897 endocytosis;GO:0051260 protein homooligomerization;GO:0050804 modulation of chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "Q7LC44-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXF9-1", "uniprot_id": [ { "id": "AQ12A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXF9", "type": "external" } ], "mass": 31475.0, "length": 295, "protein_name": "Putative aquaporin-12A", "gene_name": "AQP12A", "organism": "Human", "refseq_name": "putative aquaporin-12A", "refseq_ac": [ { "id": "NP_945349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_945349", "type": "external" } ], "gene_names_uniprotkb": "AQP12A; AQP12; AQPX2", "gene_names_refseq": "AQP-12; AQP12A; AQP12; AQPX2", "protein_names_uniprotkb": "Putative aquaporin-12A; AQP-12", "protein_names_refseq": "aquaporin 12; aquaporin X2; putative aquaporin-12A", "tax_id": 9606, "disease": "", "pathway": " (hsa:375318); (R-HSA-432047)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10510269;10564231;11001937;11027599;11034202;11076974;11231887;11532455;11573934;11952783;12084581;12801959;1373524;14514735;14592814;14701836;1510932;15703994;15809071;15948717;16325777;16407156;16596446;17178220;17374283;17920625;18202181;18501347;18511455;18555844;18678926;18762715;18768791;18948439;19144687;19170255;19383790;19574955;19590626;19857466;20147624;21251984;23359558;23719902;3049610;36167651;7510718;7530250;7535000;7678419;8140421;8621489;8812490;8855281;9369468;9405233;9806845;9829975", "class_list": "", "function": "A role of AQP12 in digestive enzyme secretion such as maturation and exocytosis of secretory granules, [RefSeq, PubMed]; Built accurate 3D-models for AQP11 and AQP12 and comprehensively compared their sequence and structure to other known aquaporins., [RefSeq, PubMed]; Genetic analysis of the aquaporin water channels AQP12A and AQP12B in patients with chronic pancreatitis., [RefSeq, PubMed]; Putative aquaporin. Could form homotetrameric transmembrane channels, with each monomer independently mediating water transport across the plasma membrane along its osmotic gradient., [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": 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:0015267 channel activity;GO:0015250 water channel activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q8IXF9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4T4-1", "uniprot_id": [ { "id": "ARG39_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4T4", "type": "external" } ], "mass": 38295.0, "length": 335, "protein_name": "Rho guanine nucleotide exchange factor 39", "gene_name": "ARHGEF39", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 39", "refseq_ac": [ { "id": "NP_116207", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116207", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF39; C9orf100", "gene_names_refseq": "ARHGEF39; C9orf100; XGEF", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 39", "protein_names_refseq": "Rho guanine nucleotide exchange factor (GEF) 39; rho guanine nucleotide exchange factor 39; vav-like protein C9orf100", "tax_id": 9606, "disease": "", "pathway": " (hsa:84904); (R-HSA-193648); (R-HSA-416482); (R-HSA-9013149)", "pathway_count": 4, "publication_count": 267, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10873802;10958683;11007481;11058585;11085924;11149925;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;12433842;12515866;12531887;12546821;12547822;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;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;20679435;20810653;21148482;21542010;21565175;21613211;21730051;21865595;21989057;22004470;22096251;22298643;22327280;22407364;22475431;22608513;22661716;22734669;22970203;23209303;23255595;23288169;23434736;23572525;23707487;23718289;23940355;24086303;24259668;24335996;24352656;24366607;24715725;24859002;24933155;24960694;25024229;25211221;25414122;25428919;25576301;25704760;25721503;25795300;25862245;26129894;26154972;26529257;26887924;26992070;27072905;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27806292;27846572;28114311;28196833;28871449;29089502;29358323;29382922;30007591;30853411;31844290;31871319;32157095;32203420;32265295;32387766;32502341;32897882;33141586;33298915;33912179;33936100;33968037;34171305;34211107;34731623;35051231;36400179;39128592;7479768;7512369;7559638;7673236;7721814;7753201;7835339;7937899;8021274;8107774;8537347;8543060;8617235;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9305890;9308960;9438849;9490638;9497316;9520479;9582072;9659915;9670022;9792683;9796816;9822598;9843499;9988689", "class_list": "", "function": "ARHGEF39 promotes tumor growth and invasion by activating the Rac1-P38-ATF2 signaling pathway, as well as increasing the expression of Cyclin A2, Cyclin D1, and MMP2 in NSCLC cells., [RefSeq, PubMed]; ARHGEF39 targeted by E2F1 fosters hepatocellular carcinoma metastasis by mediating fatty acid metabolism., [RefSeq, PubMed]; C9orf100 plays a potential oncogenic role in the development and metastasis of HCC., [RefSeq, PubMed]; FARP1, ARHGEF39, and TIAM2 are essential receptor tyrosine kinase effectors for Rac1-dependent cell motility in human lung adenocarcinoma., [RefSeq, PubMed]; Findings suggest that ARHGEF39 may contribute to cell proliferation and migration in gastric cancer via a possible mechanism involving Akt signaling., [RefSeq, PubMed]; Genome-wide admixture and association analysis identifies African ancestry-specific risk loci of eosinophilic esophagitis in African Americans., [RefSeq, PubMed]; Promotes cell proliferation., [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": 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": "Q49AG0;Q6TPQ2;Q96ST6", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 26.8, "record_id": "Q8N4T4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92481-1", "uniprot_id": [ { "id": "AP2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92481", "type": "external" } ], "mass": 50474.0, "length": 460, "protein_name": "Transcription factor AP-2-beta", "gene_name": "TFAP2B", "organism": "Human", "refseq_name": "transcription factor AP-2-beta", "refseq_ac": [ { "id": "NP_003212", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003212", "type": "external" } ], "gene_names_uniprotkb": "TFAP2B", "gene_names_refseq": "AP-2B; AP-2beta; AP2-B; PDA2; TFAP2B", "protein_names_uniprotkb": "Transcription factor AP-2-beta; AP2-beta; Activating enhancer-binding protein 2-beta", "protein_names_refseq": "AP2-beta; activating enhancer binding protein 2 beta; transcription factor AP-2-beta", "tax_id": 9606, "disease": "Char syndrome (Disease Ontology:DOID:0060563); angle-closure glaucoma (Disease Ontology:DOID:13550); patent ductus arteriosus (Disease Ontology:DOID:13832); sleep disorder (Disease Ontology:DOID:535); patent ductus arteriosus 2 (MONDO:MONDO:0014878)", "pathway": " (hsa:7021); (R-HSA-3232118); (R-HSA-8866904); (R-HSA-8866907); (R-HSA-8866910); (R-HSA-9834899)", "pathway_count": 6, "publication_count": 75, "publication_id_list": "10497269;10648798;10802654;11237011;11505339;11694877;11744733;12072434;12356736;12419227;12586840;14744778;15247228;15494207;15507434;15548692;15684060;15870067;16698963;16781829;17283066;17998543;18374648;18617891;18752453;19115315;19318566;19744555;19843847;1998122;20016603;20068231;2010091;20209145;20547755;20581866;21098080;21375726;21643846;21900752;21965678;22022399;23382213;23417673;23684889;24390485;24782567;24835590;25114211;25218447;25772240;26073453;26308378;26375851;26832794;27935866;29331515;29485866;29786170;31492751;34019948;34087483;34171305;35864973;36689838;37962045;38237728;7891714;8661133;8895516;9162057;9182571;9271117;9687504;9850080", "class_list": "", "function": "AP-2alpha/AP-2beta Transcription Factors Are Key Regulators of Epidermal Homeostasis., [RefSeq, PubMed]; Novel Circular RNA CircUBAP2 Drives Tumor Progression by Regulating the miR-143/TFAP2B Axis in Prostate Cancer., [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. AP-2-beta appears to be required for normal face and limb development and for proper terminal differentiation and function of renal tubular epithelia., [UniProtKB, PubMed]; TRIM37 Augments AP-2gamma Transcriptional Activity and Cellular Localization via K63-linked Ubiquitination to Drive Breast Cancer Progression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor activating enhancer-binding protein 2B expression correlates with invasiveness and prognosis of extramammary Paget's 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "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": "Q5JYX6;Q9NQ63;Q9NU99;Q9UJI7;Q9Y214;Q9Y3K3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "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:0008284 positive regulation of cell population proliferation;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q92481-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BI3-1", "uniprot_id": [ { "id": "APH1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BI3", "type": "external" } ], "mass": 28996.0, "length": 265, "protein_name": "Gamma-secretase subunit APH-1A", "gene_name": "APH1A", "organism": "Human", "refseq_name": "gamma-secretase subunit APH-1A isoform 1", "refseq_ac": [ { "id": "NP_001071096", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001071096", "type": "external" } ], "gene_names_uniprotkb": "APH1A; CGI-78; PRO1141; PSF", "gene_names_refseq": "6530402N02Rik; APH-1A; APH-1; APH1A; CGI-78", "protein_names_uniprotkb": "Gamma-secretase subunit APH-1A; APH-1a; Aph-1alpha; Presenilin-stabilization factor", "protein_names_refseq": "APH1A gamma secretase subunit; anterior pharynx defective 1 homolog A; aph-1 homolog A, gamma-secretase subunit; aph-1alpha; gamma-secretase subunit APH-1A isoform 1; gamma-secretase subunit APH-1A; presenilin-stabilization factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:51107); (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": 262, "publication_id_list": "10079256;10097139;10206645;10319874;10391242;10411933;10551863;10583407;10713164;10879540;10882063;10934472;10956649;10958687;10964718;11006133;11044625;11171333;11226752;11237011;11278841;11401442;11448999;11467836;11518718;11590439;11679632;11740940;11823422;11861489;118839;12050117;12110170;12209127;12297508;12354787;12391150;12454989;12471034;12522139;12530964;12679784;1270801;12740439;12763021;12807903;12843241;12913006;12973357;12975309;14506261;14567678;14567914;14593096;14960584;14980219;15023535;15064394;15107403;15351694;15533827;15534001;15546612;15569487;15574878;15652348;15701642;15760269;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;19369254;19524514;19567869;19596786;19640841;19658395;19726682;19828817;20156974;20496116;20676056;20807650;20972443;2118650;21632553;2195544;22065755;22131221;22162134;22658935;22658936;23230144;23481700;23813966;2409350;24308844;24715725;24829397;24833601;24842903;24893886;25043039;25125655;25356737;25418920;25523424;25576301;25645385;25740432;25880248;26018760;26280335;26375851;26417681;26668317;26686862;26807092;26811146;27600516;27846572;27862975;279930;28228285;28467828;28514659;28753424;28832583;28904123;2900981;29242379;29437277;29493099;29508533;29557506;29632046;29632711;29789417;29856954;29856955;30315122;3035556;30429286;3053705;30598546;30630874;30779550;3080684;3094007;31092671;31154438;31217245;31222486;3142462;3153318;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33392160;33592498;33717175;33912179;33968037;33981976;34087483;34171305;34357683;34509645;34725712;34932366;35008932;35051231;35318648;35580925;36010968;36215666;36241641;36284347;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": "APH-1 binds to presenilins and nicastrin and may play a role in maturation of presenilin-nicastrin complexes, [RefSeq, PubMed]; Non-catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:12297508, PubMed:12522139, PubMed:12679784, PubMed:12763021, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874). Required for normal gamma-secretase assembly (PubMed:12471034, PubMed:12522139, PubMed:12763021, PubMed:19369254). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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]; Specific Mutations in Aph1 Cause gamma-Secretase Activation. Publication Status: Online-Only, [RefSeq, PubMed]; These data indicate that mammalian APH-1 (mAPH-1) along with presenilin 1 and nicastrin is probably a functional component of the gamma-secretase complex required for the intramembrane proteolysis of APP and Notch, [RefSeq, PubMed]; This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011]., [RefSeq]; Using purified PSEN1/Aph1A gamma-secretase and the APPC99-3XFLAG substrate, authors show that substrate shortening progressively destabilizes the consecutive enzyme-substrate complexes that characterize the sequential gamma-secretase processing of APP; present a unifying model for how PSEN or APP mutations enhance amyloidogenic Abeta production, suggests that environmental factors may increase Alzheimer's Disease risk. Erratum:[Cell. 2021 Apr 15;184(8):2257-2258. doi: 10.1016/j.cell.2021.03.058. PMID: 33861967], [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": 2, "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": "B4DQK0;Q5TB22;Q5TB23;Q969R6;Q9BVG0;Q9Y386", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding;GO:0030674 protein-macromolecule adaptor activity;GO:0061133 endopeptidase activator activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0006509 membrane protein ectodomain proteolysis;GO:0007219 Notch signaling pathway;GO:0007220 Notch receptor processing;GO:0016485 protein processing;GO:0042982 amyloid precursor protein metabolic process", "synthesized_glycan_count": 0, "hit_score": 26.5, "record_id": "Q96BI3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LA8-1", "uniprot_id": [ { "id": "ANM6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LA8", "type": "external" } ], "mass": 41938.0, "length": 375, "protein_name": "Protein arginine N-methyltransferase 6", "gene_name": "PRMT6", "organism": "Human", "refseq_name": "protein arginine N-methyltransferase 6", "refseq_ac": [ { "id": "NP_060607", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060607", "type": "external" } ], "gene_names_uniprotkb": "PRMT6; HRMT1L6", "gene_names_refseq": "HRMT1L6; PRMT6", "protein_names_uniprotkb": "Protein arginine N-methyltransferase 6; 2.1.1.319; Heterogeneous nuclear ribonucleoprotein methyltransferase-like protein 6; Histone-arginine N-methyltransferase PRMT6", "protein_names_refseq": "HMT1 hnRNP methyltransferase-like 6; heterogeneous nuclear ribonucleoprotein methyltransferase-like protein 6; histone-arginine N-methyltransferase PRMT6; protein arginine N-methyltransferase 6", "tax_id": 9606, "disease": "cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:55170); (R-HSA-3214858); (R-HSA-8936459)", "pathway_count": 3, "publication_count": 70, "publication_id_list": "10617663;11237011;11341840;11448779;11724789;11747826;11751582;11756452;12483298;12576332;15334060;15485929;15596808;16157300;16159886;16600869;16628190;17176473;17215844;17267505;17415034;17898714;18077460;18079182;18263580;18316480;18404153;18691976;19114653;19234465;19405910;19509293;19651622;20047962;20339092;20876458;20951943;21129147;21252065;21316606;21725049;21774791;22231400;22777353;23186163;23481700;23866860;26010396;26178996;26992070;28228285;28834231;29393594;29557506;30420520;31530632;31844290;32387766;32828318;32938616;33298915;33592498;33968037;34087483;36814156;37813837;38842205;39043634;39134684;9642256", "class_list": "", "function": "Arginine methyltransferase that can catalyze the formation of both omega-N monomethylarginine (MMA) and asymmetrical dimethylarginine (aDMA), with a strong preference for the formation of aDMA (PubMed:17898714, PubMed:18077460, PubMed:18079182, PubMed:19405910, PubMed:30420520). Preferentially methylates arginyl residues present in a glycine and arginine-rich domain and displays preference for monomethylated substrates (PubMed:17898714, PubMed:18077460, PubMed:18079182, PubMed:19405910). Specifically mediates the asymmetric dimethylation of histone H3 'Arg-2' to form H3R2me2a (PubMed:17898714, PubMed:18077460, PubMed:18079182). H3R2me2a represents a specific tag for epigenetic transcriptional repression and is mutually exclusive with methylation on histone H3 'Lys-4' (H3K4me2 and H3K4me3) (PubMed:17898714, PubMed:18077460). Acts as a transcriptional repressor of various genes such as HOXA2, THBS1 and TP53 (PubMed:19509293). Repression of TP53 blocks cellular senescence (By similarity). Also methylates histone H2A and H4 'Arg-3' (H2AR3me and H4R3me, respectively). Acts as a regulator of DNA base excision during DNA repair by mediating the methylation of DNA polymerase beta (POLB), leading to the stimulation of its polymerase activity by enhancing DNA binding and processivity (PubMed:16600869). Methylates HMGA1 (PubMed:16157300, PubMed:16159886). Regulates alternative splicing events. Acts as a transcriptional coactivator of a number of steroid hormone receptors including ESR1, ESR2, PGR and NR3C1. Promotes fasting-induced transcriptional activation of the gluconeogenic program through methylation of the CRTC2 transcription coactivator (By similarity). May play a role in innate immunity against HIV-1 in case of infection by methylating and impairing the function of various HIV-1 proteins such as Tat, Rev and Nucleocapsid protein p7 (NC) (PubMed:17267505). Methylates GPS2, protecting GPS2 from ubiquitination and degradation (By similarity). Methylates SIRT7, inhibiting SIRT7 histone deacetylase activity and promoting mitochondria biogenesis (PubMed:30420520)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Methylates HIV-1 Tat protein and acts as a restriction factor for HIV-1 replication, [RefSeq, PubMed]; MiR-141-3p promotes malignant progression in prostate cancer through AlkB homolog 5-mediated m[6]A modification of protein arginine methyltransferase 6., [RefSeq, PubMed]; PRMT6 Promotes the Immune Evasion of Gastric Cancer by Upregulating ANXA1., [RefSeq, PubMed]; PRMT6 facilitates EZH2 protein stability by inhibiting TRAF6-mediated ubiquitination degradation to promote glioblastoma cell invasion and migration. Publication Status: Online-Only, [RefSeq, PubMed]; PRMT6 methylation of STAT3 regulates tumor metastasis in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The PRMT6/STAT1/ACSL1 axis promotes ferroptosis in diabetic nephropathy., [RefSeq, PubMed]; The protein encoded by this gene belongs to the arginine N-methyltransferase family, which catalyze the sequential transfer of methyl group from S-adenosyl-L-methionine to the side chain nitrogens of arginine residues within proteins, to form methylated arginine derivatives and S-adenosyl-L-homocysteine. This protein can catalyze both, the formation of omega-N monomethylarginine and asymmetrical dimethylarginine, with a strong preference for the latter. It specifically mediates the asymmetric dimethylation of Arg2 of histone H3, and the methylated form represents a specific tag for epigenetic transcriptional repression. This protein also forms a complex with, and methylates DNA polymerase beta, resulting in stimulation of polymerase activity by enhancing DNA binding and processivity. [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": 1, "reported_mutagensis": 3, "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": "A3KME1;B4DID8;Q5T5Y5;Q6DKI4;Q9NVR8", "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": "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": "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" } ], "go_molecular_function": "GO:0003682 chromatin binding;GO:0016274 protein-arginine N-methyltransferase activity;GO:0035242 protein-arginine omega-N asymmetric methyltransferase activity;GO:0042054 histone methyltransferase activity;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006284 base-excision repair;GO:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q96LA8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PS8-1", "uniprot_id": [ { "id": "AQP10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PS8", "type": "external" } ], "mass": 31763.0, "length": 301, "protein_name": "Aquaporin-10", "gene_name": "AQP10", "organism": "Human", "refseq_name": "aquaporin-10", "refseq_ac": [ { "id": "NP_536354", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_536354", "type": "external" } ], "gene_names_uniprotkb": "AQP10", "gene_names_refseq": "AQP10; AQPA_HUMAN", "protein_names_uniprotkb": "Aquaporin-10; AQP-10; Aquaglyceroporin-10; Small intestine aquaporin", "protein_names_refseq": "AQP-10; aquaglyceroporin-10; aquaporin-10; small intestine aquaporin", "tax_id": 9606, "disease": "", "pathway": " (hsa:89872); (R-HSA-432047)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10510269;10564231;11001937;11027599;11034202;11076974;11231887;11532455;11573934;11952783;12084581;12801959;1373524;14514735;14592814;14701836;1510932;15221416;15703994;15948717;16325777;16407156;16596446;17178220;17374283;17920625;18202181;18501347;18511455;18555844;18678926;18762715;18768791;18948439;19144687;19170255;19383790;19574955;19590626;19857466;20147624;21251984;21733844;23359558;23382902;26313002;26810286;30420639;3049610;32350084;32488085;34699768;35051231;35251023;35580925;7510718;7530250;7535000;7678419;8140421;8621489;8812490;8855281;9369468;9405233;9806845;9829975", "class_list": "", "function": "Aquaglyceroporins form homotetrameric transmembrane channels, with each monomer independently mediating glycerol and water transport across the plasma membrane along their osmotic gradient (PubMed:11573934, PubMed:12084581, PubMed:21733844, PubMed:23382902, PubMed:30420639). Could also be permeable to urea (PubMed:12084581). Among aquaglyceroporins, it exhibits a unique pH-gated glycerol transport activity, being more active at acidic pH. It most likely plays a central role in the efflux of glycerol formed during triglyceride hydrolysis in adipocytes and in glycerol uptake by enterocytes, as both processes occur and are stimulated at acidic pH (PubMed:11573934, PubMed:23382902, PubMed:30420639)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Expression of CXCL4 and aquaporin 3 and 10 mRNAs in middle ear effusion is associated with the pathophysiology of otitis media with effusion., [RefSeq, PubMed]; In human adipocytes, the decreased pH observed during lipolysis (fat burning) correlates with increased glycerol release and stimulation of aquaglyceroporin AQP10. Publication Status: Online-Only, [RefSeq, PubMed]; The human aquaglyceroporins, i.e., AQP3, AQP7, AQP9 and AQP10 can act as silicon transporters in both Xenopus laevis oocytes and HEK-293 cells. Publication Status: Online-Only, [RefSeq, PubMed]; The role of water coordination in the pH-dependent gating of hAQP10., [RefSeq, PubMed]; This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable channels in the epithelia of organs that absorb and excrete water. This protein was shown to function as a water-selective channel, and could also permeate neutral solutes such as glycerol and urea. [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": 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": 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": 9, "reported_glycation": 0, "reported_snv": 13, "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": "Q5VYD3;Q5VYD4;Q8NG70", "ec_number_list": [], "go_molecular_function": "GO:0015250 water channel activity;GO:0015254 glycerol channel activity;GO:0015204 urea transmembrane transporter activity", "go_cellular_component": "GO:0005811 lipid droplet;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0051289 protein homotetramerization;GO:0009636 response to toxic substance;GO:0006833 water transport;GO:0015793 glycerol transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q96PS8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000100010000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99218-2", "uniprot_id": [ { "id": "AMELY_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99218", "type": "external" } ], "mass": 23250.0, "length": 206, "protein_name": "Amelogenin, Y isoform", "gene_name": "AMELY", "organism": "Human", "refseq_name": "amelogenin, Y isoform isoform 1 precursor", "refseq_ac": [ { "id": "NP_001134", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001134", "type": "external" } ], "gene_names_uniprotkb": "AMELY; AMGL; AMGY", "gene_names_refseq": "AMELY; AMGL; AMGY", "protein_names_uniprotkb": "Amelogenin, Y isoform", "protein_names_refseq": "amelogenin (Y chromosome); amelogenin, Y isoform isoform 1 precursor", "tax_id": 9606, "disease": "autosomal dominant hypocalcemia (Disease Ontology:DOID:0090109); amelogenesis imperfecta type 1E (Disease Ontology:DOID:0110058)", "pathway": " (hsa:266)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "1734713;2004775;23623014;23948316;28828942;32571191", "class_list": "", "function": "252 confirmed and unrelated father/son pairs from the Moroccan population were examined using 17 Y-STR markers of the AmpFISTR Yfiler kit. A total of 15 single repeat mutations between fathers and sons were observed as mutational events., [RefSeq, PubMed]; Demonstrate the presence of copy number variations in regions containing 9 of the 13 CODIS(Combined DNA Index System) short tandem repeat(STR) and AMELX/Y loci, [RefSeq, PubMed]; Finally, since these results are almost completely in accordance with previously published data on B&H and neighboring populations generated by Y-chromosome single nucleotide polymorphism analysis, it can be concluded that in silico analysis of Y-STRs is a reliable method for approximation of the Y-chromosome haplogroup diversity of an examined population., [RefSeq, PubMed]; Optimization of Method for Human Sex Determination Using Peptidome Analysis of Teeth Enamel from Teeth of Different Biological Generation, Archeological Age, and Degrees of Taphonomic Preservation., [RefSeq, PubMed]; Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel., [UniProtKB]; This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. [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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6RWT1", "ec_number_list": [], "go_molecular_function": "GO:0030345 structural constituent of tooth enamel", "go_cellular_component": "GO:0031012 extracellular matrix", "go_biological_process": "GO:0070166 enamel mineralization", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q99218-2", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVC5-1", "uniprot_id": [ { "id": "ASHWN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVC5", "type": "external" } ], "mass": 25858.0, "length": 232, "protein_name": "tRNA-splicing ligase complex subunit ASW", "gene_name": "C2orf49", "organism": "Human", "refseq_name": "tRNA-splicing ligase complex subunit ASW isoform 2", "refseq_ac": [ { "id": "NP_001273466", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273466", "type": "external" } ], "gene_names_uniprotkb": "C2orf49; ASW", "gene_names_refseq": "C2orf49; asw", "protein_names_uniprotkb": "tRNA-splicing ligase complex subunit ASW", "protein_names_refseq": "ashwin; tRNA-splicing ligase complex subunit ASW isoform 2; tRNA-splicing ligase complex subunit ASW", "tax_id": 9606, "disease": "", "pathway": " (hsa:79074); (R-HSA-6784531)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "10.1101/2023.09.13.557529;10444065;11237011;11455963;11727826;11871657;12138183;12526808;12711671;12729736;15109492;15317868;16361254;16710424;17081983;17204286;17224653;17287340;18226598;18445686;18452278;18669648;18707149;18767875;18809514;18984158;19413330;19651622;19664995;19690332;20058876;20068231;20166139;21311021;21406692;21450806;21559454;21593607;22944664;23186163;23301498;23481700;24275569;2470644;24870230;25576301;25640237;25849199;25880248;26154972;27600516;27862975;28218747;28510447;28832583;29242379;29437277;29485866;29508533;29557506;29632711;30429286;31154438;31844290;31848261;31998317;32157095;32350084;32488085;32502341;32983136;33298915;33592498;33968037;34019948;35251023;35580925;37938771;6930639;7759547;7828588;9512417;9660920", "class_list": "", "function": "Accessory subunit of the tRNA-splicing ligase complex that acts by directly joining spliced tRNA halves to mature-sized tRNAs by incorporating the precursor-derived splice junction phosphate into the mature tRNA as a canonical 3',5'-phosphodiester. May act as an RNA ligase with broad substrate specificity and may function toward other RNAs., [UniProtKB, 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": 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": 0, "reported_glycation": 0, "reported_snv": 14, "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": "B3KXN3;B4E2G9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0072669 tRNA-splicing ligase complex", "go_biological_process": "GO:0048598 embryonic morphogenesis;GO:0006388 tRNA splicing, via endonucleolytic cleavage and ligation", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q9BVC5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYT9-1", "uniprot_id": [ { "id": "ANO3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYT9", "type": "external" } ], "mass": 114657.0, "length": 981, "protein_name": "Anoctamin-3", "gene_name": "ANO3", "organism": "Human", "refseq_name": "anoctamin-3 isoform 1", "refseq_ac": [ { "id": "NP_001300655", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001300655", "type": "external" } ], "gene_names_uniprotkb": "ANO3; C11orf25; GENX-3947; TMEM16C", "gene_names_refseq": "ANO3; C11orf25; DYT23; DYT24; GENX-3947; TMEM16C", "protein_names_uniprotkb": "Anoctamin-3; Transmembrane protein 16C", "protein_names_refseq": "anoctamin-3 isoform 1; dystonia 23; transmembrane protein 16C (eight membrane-spanning domains)", "tax_id": 9606, "disease": "dystonia 24 (Disease Ontology:DOID:0090052)", "pathway": " (hsa:63982); (R-HSA-2672351); (R-HSA-9733458)", "pathway_count": 3, "publication_count": 129, "publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;11182090;11237011;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12739008;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19620632;19808995;19953639;20388639;20466723;20525693;20538786;21040849;21527911;21607626;21642943;21984732;22002868;22302790;22773952;22946059;2298749;23112050;23200863;2321095;23616951;23872594;2536303;25847575;25892735;26154972;26359375;26562072;28063628;28071645;28154142;28790369;29557506;29632046;29769354;31548259;31844290;32125455;32362314;32488085;32512386;32532959;32703818;32721790;32942285;33051876;33310888;33493182;33494095;33581114;33827113;33890572;34213849;34504087;34528721;34561887;34613786;34732583;34929169;35051231;35343766;37116293;38079528;38284143;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "A novel ANO3 variant in two siblings with different phenotypes., [RefSeq, PubMed]; Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia., [RefSeq, PubMed]; C11orf25, FLJ10261 (ORAOV2), C12orf3 and FLJ34272 constitute a family of eight-transmembrane proteins with N- and C-terminal tails facing the cytoplasm., [RefSeq, PubMed]; Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide (By similarity). Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity by promoting its full single-channel conductance at very low sodium concentrations and by increasing its sodium sensitivity (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity (PubMed:21984732)., [UniProtKB, UniProtKB, PubMed]; Mutations in ANO3 are a cause of autosomal-dominant craniocervical dystonia., [RefSeq, PubMed]; Rat Ano3 (also known as Tmem16c) interacts with, and alters the activity of the sodium-activated potassium channel Slack. Reduced expression of Ano3 in rat models results in increased pain sensitivity., [RefSeq, PubMed]; The Clinical Spectrum of ANO3-Report of a New Family and Literature Review. Review article, [RefSeq, PubMed]; The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]., [RefSeq]; This study demonstrated that Mutations in ANO3 may cause Dystonia., [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": 35, "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": "B7Z3F5", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" } ], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0005254 chloride channel activity;GO:0017128 phospholipid scramblase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005929 cilium", "go_biological_process": "GO:0034220 monoatomic ion transmembrane transport;GO:0045332 phospholipid translocation;GO:0016048 detection of temperature stimulus;GO:0050982 detection of mechanical stimulus", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "Q9BYT9-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZX7-1", "uniprot_id": [ { "id": "AICDA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZX7", "type": "external" } ], "mass": 23954.0, "length": 198, "protein_name": "Single-stranded DNA cytosine deaminase", "gene_name": "AICDA", "organism": "Human", "refseq_name": "single-stranded DNA cytosine deaminase isoform 2", "refseq_ac": [ { "id": "NP_001317272", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317272", "type": "external" } ], "gene_names_uniprotkb": "AICDA; AID", "gene_names_refseq": "AICDA; AID; ARP2; CDA2; HEL-S-284; HIGM2", "protein_names_uniprotkb": "Single-stranded DNA cytosine deaminase; 3.5.4.38; AID; Activation-induced cytidine deaminase; Cytidine aminohydrolase", "protein_names_refseq": "cytidine aminohydrolase; epididymis secretory protein Li 284; integrated into Burkitt's lymphoma cell line Ramos; single-stranded DNA cytosine deaminase isoform 2; single-stranded DNA cytosine deaminase", "tax_id": 9606, "disease": "swine influenza (Disease Ontology:DOID:0050211); immunodeficiency with hyper-IgM type 2 (Disease Ontology:DOID:0060758); Epstein-Barr virus infectious disease (Disease Ontology:DOID:2938); hyperimmunoglobulin syndrome (Disease Ontology:DOID:2959); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:57379); (R-HSA-9821002)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "10950930;11007475;11237011;11544457;12202747;14769937;14962793;16387847;16723391;17320160;17320161;17320163;17363312;17713478;17851529;18003914;18197815;18417471;18722174;19010772;20507984;20729863;21113164;21135131;21385873;21496894;21518874;21659520;22420752;23166356;23277564;23803409;24097111;24434356;25418920;26355458;26545377;26811146;26992070;27258794;27716525;27846572;27920218;28063628;28218747;28228285;28832583;28904123;29122947;29242379;29393594;29437277;29632046;31844290;31998317;32484799;33691108;33717175;33912179;34357683;35314832;35524550;37248842;37300695;37600817;37949972", "class_list": "", "function": "Activation-induced cytidine deaminase an antibody diversification enzyme interacts with chromatin modifier UBN1 in B-cells. Publication Status: Online-Only, [RefSeq, PubMed]; Activation-induced cytidine deaminase displays an alternative co-factor for modulating PIM1 expression in diffuse large B cell lymphoma cell lines. Publication Status: Online-Only, [RefSeq, PubMed]; Human activation-induced deaminase lacks strong replicative strand bias or preference for cytosines in hairpin loops., [RefSeq, PubMed]; Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation (SHM), gene conversion, and class-switch recombination (CSR) in B-lymphocytes by deaminating C to U during transcription of Ig-variable (V) and Ig-switch (S) region DNA. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses (PubMed:18722174, PubMed:21385873, PubMed:21518874, PubMed:27716525). May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation (PubMed:21496894)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The off-target effects of AID in carcinogenesis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. AICDA is specifically expressed and active in germinal center-like B cells. In the germinal center, AICDA is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. An epigenetic role in neoplastic transformation and lymphoma progression has been experimentally ascribed to AICDA using mouse models. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Jul 2020]., [RefSeq]; [Activation-induced cytidine deaminase (AID) involved in the regulation of B cell immune senescence]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 12, "reported_glycation": 0, "reported_snv": 11, "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": "Q6QJ81;Q8NFC1", "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:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000932 P-body;GO:0032991 protein-containing complex", "go_biological_process": "GO:0033262 regulation of nuclear cell cycle DNA replication;GO:0044029 positive regulation of gene expression via chromosomal CpG island demethylation;GO:0006397 mRNA processing;GO:0016554 cytidine to uridine editing;GO:0051607 defense response to virus", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9GZX7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBZ2-1", "uniprot_id": [ { "id": "ARNT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBZ2", "type": "external" } ], "mass": 78691.0, "length": 717, "protein_name": "Aryl hydrocarbon receptor nuclear translocator 2", "gene_name": "ARNT2", "organism": "Human", "refseq_name": "aryl hydrocarbon receptor nuclear translocator 2", "refseq_ac": [ { "id": "NP_055677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055677", "type": "external" } ], "gene_names_uniprotkb": "ARNT2; BHLHE1; KIAA0307", "gene_names_refseq": "ARNT2; WEDAS; bHLHe1", "protein_names_uniprotkb": "Aryl hydrocarbon receptor nuclear translocator 2; ARNT protein 2; Class E basic helix-loop-helix protein 1; bHLHe1", "protein_names_refseq": "ARNT protein 2; aryl hydrocarbon receptor nuclear translocator 2; class E basic helix-loop-helix protein 1", "tax_id": 9606, "disease": "Webb-Dattani syndrome (MONDO:MONDO:0014404)", "pathway": " (hsa:9915); (R-HSA-1989781); (R-HSA-211945); (R-HSA-211976); (R-HSA-211981); (R-HSA-8937144); (R-HSA-9768919)", "pathway_count": 7, "publication_count": 142, "publication_id_list": "10383923;10409767;10445380;10588945;10777541;10945627;11154734;11237011;11259606;11267664;11274138;11422004;11555828;12118000;12177166;12210012;12464245;12505311;12573486;12582161;12629583;12725862;12732646;1351198;14701734;15042513;15067378;15130092;15196988;15350128;15365656;15454734;15492766;15523003;15535985;15635043;15665333;16359177;16380219;16614850;16765324;16972786;1708392;17400359;1741400;17980155;18000031;18254726;18256025;18285471;18540824;18669648;18719978;18848529;19053771;19088433;19588076;19661213;19710929;19764817;19934321;20007405;20110263;20149798;20177059;2025243;20422440;20542992;20977903;21368041;21636783;2256920;22700792;22759865;22772592;22813719;23616950;23953689;24022475;24196956;24291638;24423752;24465693;24677340;24900196;25144769;25418920;25425164;25446851;25923589;2592361;27397612;27472814;27600516;27846572;2897122;29485866;29557506;29948506;3024157;3038528;30833945;31154438;31844290;31848261;31964743;32152082;32157095;32171872;32187464;32205870;32210741;32488085;33298915;33592498;33968037;34171305;3487786;35051231;36343253;6220203;7217086;7685352;7892212;7903454;7961644;7980644;8619637;8647822;8647857;8975785;8985016;9012850;9169443;9367528;9447995;9536209;9578606;9644715;9653080;9748239;9842986", "class_list": "", "function": "Low expression of ARNT2 is associated with gastric cancer., [RefSeq, PubMed]; Structures of NPAS4-ARNT and NPAS4-ARNT2 heterodimers reveal new dimerization modalities in the bHLH-PAS transcription factor family., [RefSeq, PubMed]; The meta-analysis of both populations showed that carriers of the ARNT2 rs1374213G, CX3CR1 rs7631529A, and CX3CR1 rs9823718G alleles (where the RefSeq identifier appears as a subscript) had a significantly increased risk of developing invasive aspergillosis according to a log-additive model. Publication Status: Online-Only, [RefSeq, PubMed]; There is no association of ARNT2 gene with cleft palate only (n = 45) and cleft lip/palate (n = 37)., [RefSeq, PubMed]; This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013]., [RefSeq]; Transcription factor that plays a role in the development of the hypothalamo-pituitary axis, postnatal brain growth, and visual and renal function (PubMed:24022475). Specifically recognizes the xenobiotic response element (XRE)., [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "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": "B4DIS7;O15024;Q8IYC2", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0046982 protein heterodimerization activity;GO:0044877 protein-containing complex binding;GO:0017162 aryl hydrocarbon receptor 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:0034751 aryl hydrocarbon receptor complex;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0001701 in utero embryonic development;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "Q9HBZ2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCE9-1", "uniprot_id": [ { "id": "ANO8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCE9", "type": "external" } ], "mass": 136034.0, "length": 1232, "protein_name": "Anoctamin-8", "gene_name": "ANO8", "organism": "Human", "refseq_name": "anoctamin-8", "refseq_ac": [ { "id": "NP_066010", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066010", "type": "external" } ], "gene_names_uniprotkb": "ANO8; KIAA1623; TMEM16H", "gene_names_refseq": "ANO8; KIAA1623; TMEM16H", "protein_names_uniprotkb": "Anoctamin-8; Transmembrane protein 16H", "protein_names_refseq": "anoctamin-8; transmembrane protein 16H", "tax_id": 9606, "disease": "", "pathway": " (hsa:57719); (R-HSA-2672351); (R-HSA-381426); (R-HSA-8957275); (R-HSA-9733458)", "pathway_count": 5, "publication_count": 192, "publication_id_list": "10026136;10077652;10218588;10512690;10564087;10614670;10642508;10681634;10720933;10767424;10810289;10830164;10831588;10898936;10912521;10951195;10990447;11158056;11182090;11237011;11250653;11264294;11316783;11522292;11588175;11606061;11687798;11734858;11739083;11751371;11788658;11842292;11904445;11956057;12241545;12379487;12393854;12466191;12810533;12904166;12907679;1370451;1379744;1383255;14584882;14634667;15010458;15044642;15126567;15147738;15308688;15318163;15469690;15485880;15504734;15505377;15525596;15642270;15647853;15916532;15919655;16219661;16813530;16849430;16850186;17047378;17249697;17312271;17381423;17448995;17699613;17881003;17985932;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19620632;19808995;19953639;20056604;20388639;20466723;20525693;20538786;21040849;21527911;21607626;21642943;21984732;22002868;22178883;22302790;22773952;22946059;2298749;23112050;2321095;23481700;23616951;2476804;2479552;2536303;26091039;26359375;26562072;28071645;28154142;28790369;29242379;29557506;30192525;31061173;31530632;31844290;32125455;32161166;32362314;32387766;32512386;32532959;32703818;32721790;32938616;32942285;32942997;33051876;33310888;33493182;33494095;33581114;33592498;33633747;33827113;33890572;33912179;34213849;34504087;34528721;34561887;34613786;34732583;34929169;35051231;35343766;36010968;37938771;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7588753;7665160;7683646;7689487;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8781553;8809036;8817670;8894645;8964575;9037075;9395096;9497324;9571199;9662395;9700209;9709957;9719863;9733769;9744806;9786878;9922210", "class_list": "", "function": "Anoctamin 8 (ANO8) as a key tether in the formation of the Endoplasmic reticulum/Plasma membrane (ER/PM) junctions that is essential for STIM1-STIM1 interaction and STIM1-Orai1 interaction and channel activation at a ER/PM PI(4,5)P2-rich compartment. Ano8 assembles all core Calcium signaling proteins., [RefSeq, PubMed]; Does not exhibit calcium-activated chloride channel (CaCC) activity., [UniProtKB, PubMed]; Human TMEM16H gene, consisting of 18 exons, is located at human chromosome 19p13.11., [RefSeq, PubMed]; Whole-exome sequencing reveals ANO8 as a genetic risk factor for intrahepatic cholestasis of pregnancy. 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": 3, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NIJ0", "ec_number_list": [], "go_molecular_function": "GO:0005229 intracellularly calcium-gated chloride channel activity;GO:0005254 chloride channel activity", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0034220 monoatomic ion transmembrane transport;GO:1902476 chloride transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "Q9HCE9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NU02-1", "uniprot_id": [ { "id": "ANKE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NU02", "type": "external" } ], "mass": 86664.0, "length": 776, "protein_name": "Ankyrin repeat and EF-hand domain-containing protein 1", "gene_name": "ANKEF1", "organism": "Human", "refseq_name": "ankyrin repeat and EF-hand domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001290401", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290401", "type": "external" } ], "gene_names_uniprotkb": "ANKEF1; ANKRD5", "gene_names_refseq": "ANKEF1; ANKRD5", "protein_names_uniprotkb": "Ankyrin repeat and EF-hand domain-containing protein 1; Ankyrin repeat domain-containing protein 5", "protein_names_refseq": "ankyrin repeat and EF-hand domain-containing protein 1 isoform 2; ankyrin repeat and EF-hand domain-containing protein 1; ankyrin repeat domain-containing protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:63926)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "16959974;18491316;19664995;25880248;26758079;26811146;26992070;28218747;28649982;28832583;28904123;29242379;29393594;29437277;30315122;30379171;30429286;30484775;30779550;30833945;31530632;31844290;31848261;32157095;32265295;32357974;32938616;32983136;33298915;33537174;33912179;33968037;34171305;34185709;35051231;35580925;36010968;36215666;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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KUQ0;Q9H6Y9", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9NU02-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVM4-1", "uniprot_id": [ { "id": "ANM7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVM4", "type": "external" } ], "mass": 78459.0, "length": 692, "protein_name": "Protein arginine N-methyltransferase 7", "gene_name": "PRMT7", "organism": "Human", "refseq_name": "protein arginine N-methyltransferase 7 isoform 2", "refseq_ac": [ { "id": "NP_001171753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171753", "type": "external" } ], "gene_names_uniprotkb": "PRMT7; KIAA1933", "gene_names_refseq": "PRMT7; SBIDDS", "protein_names_uniprotkb": "Protein arginine N-methyltransferase 7; 2.1.1.321; Histone-arginine N-methyltransferase PRMT7; [Myelin basic protein]-arginine N-methyltransferase PRMT7", "protein_names_refseq": "[Myelin basic protein]-arginine N-methyltransferase PRMT7; histone-arginine N-methyltransferase PRMT7; protein arginine N-methyltransferase 7 isoform 2; protein arginine N-methyltransferase 7", "tax_id": 9606, "disease": "short stature-brachydactyly-obesity-global developmental delay syndrome (MONDO:MONDO:0014944)", "pathway": " (hsa:54496); (R-HSA-3214858)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "11237011;11341840;11448779;11747826;11751582;11756452;15044439;15485929;15494416;17215844;17709427;17898714;18079182;18381071;18404153;19089452;19110445;19234465;20951943;21316606;21774791;22231400;23481700;24715725;25294873;25418920;25576301;25880248;26154972;26375851;26437029;26992070;27397612;27600516;27846572;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30410026;30429286;31844290;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34211107;34932366;35051231;35264579;35288557;35318648;35561310;35580925;36010968;36241641;36284347;36348013;36399134;37216364;37541260;9642256", "class_list": "", "function": "An enhancer variant at 16q22.1 predisposes to hepatocellular carcinoma via regulating PRMT7 expression. Publication Status: Online-Only, [RefSeq, PubMed]; 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. 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. Specifically mediates the symmetric dimethylation of histone H4 'Arg-3' to form H4R3me2s. Plays a role in gene imprinting by being recruited by CTCFL at the H19 imprinted control region (ICR) and methylating histone H4 to form H4R3me2s, possibly leading to recruit DNA methyltransferases at these sites. May also play a role in embryonic stem cell (ESC) pluripotency. Also able to mediate the arginine methylation of histone H2A and myelin basic protein (MBP) in vitro; the relevance of such results is however unclear in vivo., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities., [RefSeq, PubMed]; Both domains are required for functionality, [RefSeq, PubMed]; PRMT7 (like PRMT5) is a Type II methyltransferase capable of producing symmetric dimethylarginine modifications in proteins., [RefSeq, PubMed]; Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment., [RefSeq, PubMed]; That in human cells, PRMT5 and PRMT7 are required for Sm protein sDMA modification, and that Sm protein symmetric dimethylarginine modification is required for snRNP biogenesis in human cells., [RefSeq, PubMed]; The arginine methyltransferase PRMT7 promotes extravasation of monocytes resulting in tissue injury in COPD. Publication Status: Online-Only, [RefSeq, PubMed]; The exquisite specificity of human protein arginine methyltransferase 7 (PRMT7) toward Arg-X-Arg sites. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the protein arginine N-methyltransferase family of proteins. The encoded enzyme transfers single methyl groups to arginine residues to generate monomethylarginines on histone proteins as well as other protein substrates. This enzyme plays a role in a wide range of biological processes, including neuronal differentiation, male germ line imprinting, small nuclear ribonucleoprotein biogenesis, and regulation of the Wnt signaling pathway. Mutations in this gene underlie multiple related syndromes in human patients characterized by intellectual disability, short stature and other features. The encoded protein may promote breast cancer cell invasion and metastasis in human patients. [provided by RefSeq, May 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": 0, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KPR0;B3KUG9;B4E379;Q96PV5;Q9H9L0", "ec_number_list": [ { "id": "2.1.1.320", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.320", "type": "external" }, { "id": "2.1.1.319", "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:0043021 ribonucleoprotein complex binding;GO:0016274 protein-arginine N-methyltransferase activity;GO:0042054 histone methyltransferase activity;GO:0042393 histone binding;GO:0044020 histone H4R3 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0018216 peptidyl-arginine methylation;GO:0000387 spliceosomal snRNP assembly", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q9NVM4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVV5-2", "uniprot_id": [ { "id": "AIG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVV5", "type": "external" } ], "mass": 27458.0, "length": 238, "protein_name": "Androgen-induced gene 1 protein", "gene_name": "AIG1", "organism": "Human", "refseq_name": "androgen-induced gene 1 protein isoform b", "refseq_ac": [ { "id": "NP_001273516", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273516", "type": "external" } ], "gene_names_uniprotkb": "AIG1; CGI-103", "gene_names_refseq": "AIG-1; AIG1; dJ95L4.1", "protein_names_uniprotkb": "Androgen-induced gene 1 protein; 3.1.-.-; AIG-1; FAHFA hydrolase AIG1; Fatty acid esters of hydroxy fatty acids hydrolase AIG1", "protein_names_refseq": "FAHFA hydrolase AIG1; androgen-induced gene 1 protein isoform b; androgen-induced gene 1 protein; fatty acid esters of hydroxy fatty acids hydrolase AIG1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51390)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11266118;21622095;23481700;27018888;27920218;28218747;28228285;28514659;28832583;29242379;29393594;29554130;29632711;30315122;32157095;32897882;32938616;32983136;33968037;33981976;34087483;34509645;34932366;35051231;35318648;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "High AIG1 expression is associated with virulence in clinical isolates of Entamoeba histolytica. Erratum:[PLoS Pathog. 2018 May 31;14(5):e1007091. doi: 10.1371/journal.ppat.1007091. PMID: 29851996] Publication Status: Online-Only, [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)., [UniProtKB, PubMed]; Identified a novel Pirh2-interacting protein, AIG1, by yeast two-hybrid screening and confirmed its interaction with p53 both in vitro and in vivo Publication Status: Online-Only, [RefSeq, PubMed]; These results indicate that AIG1 and ADTRP are founding members of an evolutionarily conserved class of transmembrane threonine hydrolases involved in bioactive lipid metabolism., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B4DPX2;C9J569;Q5T2H2;Q6N047;Q7Z378;Q8TB14;Q9Y3A9;Q9Y5B4", "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:0005886 plasma membrane;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0042758 long-chain fatty acid catabolic process", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9NVV5-2", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZK5-1", "uniprot_id": [ { "id": "ADA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZK5", "type": "external" } ], "mass": 58934.0, "length": 511, "protein_name": "Adenosine deaminase 2", "gene_name": "ADA2", "organism": "Human", "refseq_name": "adenosine deaminase 2 isoform a precursor", "refseq_ac": [ { "id": "NP_001269154", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269154", "type": "external" } ], "gene_names_uniprotkb": "ADA2; ADGF; CECR1; IDGFL", "gene_names_refseq": "ADA2; ADGF; CECR1; IDGFL; PAN; SNEDS; VAIHS", "protein_names_uniprotkb": "Adenosine deaminase 2; 3.5.4.4; Cat eye syndrome critical region protein 1", "protein_names_refseq": "adenosine deaminase 2 isoform a precursor; adenosine deaminase CECR1; cat eye syndrome chromosome region, candidate 1; cat eye syndrome critical region protein 1", "tax_id": 9606, "disease": "pleural tuberculosis (Disease Ontology:DOID:106); Sneddon syndrome (Disease Ontology:DOID:13096); pulmonary tuberculosis (Disease Ontology:DOID:2957); adenosine deaminase deficiency (Disease Ontology:DOID:5810); deficiency of adenosine deaminase 2 (MONDO:MONDO:0014306)", "pathway": " (hsa:51816); (R-HSA-5683826); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 134, "publication_id_list": "10368295;10485905;10496952;10580105;10625644;10756095;11237011;11278984;11563989;12185598;12882447;1325798;1339284;1415726;1568474;15926889;16006481;16199866;1636732;16423266;16630564;17496061;18020944;18477386;18512783;18692472;1898081;19100526;19144824;19159218;1928448;19824815;20054143;20147294;20338813;20418254;20453107;21081667;23069847;23590306;23650620;23684610;23783831;23922714;24190977;24366607;24552284;24552285;24743970;25075847;2515193;25418920;25424900;25802875;2587265;25892735;2610270;26154972;26992070;27397612;27846572;27920218;28218747;28228285;28467828;28514659;28649982;28832583;28904123;29242379;29317506;29391424;29393594;29437277;29493099;29557506;29632046;29632711;29769354;29786170;29789417;2995821;30315122;3037072;30410026;30620550;31154438;31530632;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32502341;32983136;33043033;33123756;33298915;33392160;33592498;33633747;3366248;33717175;33912179;33936100;33955503;34185709;34357683;34433824;34631;35051231;35154160;35580925;36215666;36284347;37074911;37312195;37328410;3755136;37584090;37685949;37938771;3801783;39078537;7597036;8314870;8428971;8522976;8527267;8636114;8692836;9813380", "class_list": "", "function": "A case series of ten plus one deficiency of adenosine deaminase 2 (DADA2) patients in Iran. Publication Status: Online-Only, [RefSeq, PubMed]; Adenosine deaminase 2 regulates the activation of the toll-like receptor 9 in response to nucleic acids., [RefSeq, PubMed]; Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Changes in Adenosine Deaminase Activity and Endothelial Dysfunction after Mild Coronavirus Disease-2019. Publication Status: Online-Only, [RefSeq, PubMed]; Deficiency of adenosine deaminase 2 (DADA2): Review. Review article, [RefSeq, PubMed]; Findings show ADA2 is encoded by the CECR1 gene & belongs to novel family of ADA-related growth factors;ADA2 may be active in sites of inflammation during hypoxia & in areas of tumour growth where adenosine is elevated & extracellular pH is acidic, [RefSeq, PubMed]; Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study., [RefSeq, PubMed]; This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. 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": 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": 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": 2, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 23, "disease_count": 5, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K9H4;Q6ICF1;Q86UB6;Q8NCJ2;Q96K41", "ec_number_list": [ { "id": "4.6.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.19", "type": "external" }, { "id": "3.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.24", "type": "external" }, { "id": "1.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2", "type": "external" }, { "id": "3.5.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.4", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.11.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.2.2", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.22", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.2.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.52", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "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": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "3.5.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.26", "type": "external" }, { "id": "3.4.21.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.76", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.1.6.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.4", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "6.3.4.21", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.21", "type": "external" }, { "id": "2.4.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.1", "type": "external" }, { "id": "2.4.2.28", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.28", "type": "external" }, { "id": "4.3.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.3.3.-", "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": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "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" }, { "id": "3.4.14.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.2", "type": "external" }, { "id": "3.5.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.15", "type": "external" } ], "go_molecular_function": "GO:0004000 adenosine deaminase activity;GO:0008201 heparin binding;GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0035578 azurophil granule lumen", "go_biological_process": "GO:0006154 adenosine catabolic process;GO:0046103 inosine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "Q9NZK5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBZ4-1", "uniprot_id": [ { "id": "APEX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBZ4", "type": "external" } ], "mass": 57401.0, "length": 518, "protein_name": "DNA-(apurinic or apyrimidinic site) endonuclease 2", "gene_name": "APEX2", "organism": "Human", "refseq_name": "DNA-(apurinic or apyrimidinic site) endonuclease 2 isoform 1", "refseq_ac": [ { "id": "NP_055296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055296", "type": "external" } ], "gene_names_uniprotkb": "APEX2; APE2; APEXL2; XTH2", "gene_names_refseq": "APE2; APEX2; APEXL2; XTH2; ZGRF2", "protein_names_uniprotkb": "DNA-(apurinic or apyrimidinic site) endonuclease 2; 3.1.11.2; AP endonuclease 2; AP endonuclease XTH2; APEX nuclease 2; APEX nuclease-like 2; Apurinic-apyrimidinic endonuclease 2", "protein_names_refseq": "AP endonuclease 2; AP endonuclease XTH2; APEX nuclease (apurinic/apyrimidinic endonuclease) 2; DNA-(apurinic or apyrimidinic site) endonuclease 2 isoform 1; DNA-(apurinic or apyrimidinic site) endonuclease 2; DNA-(apurinic or apyrimidinic site) lyase 2; apurinic/apyrimidinic endonuclease-like 2; zinc finger, GRF-type containing 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:27301)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "10.1101/2023.09.13.557529;11376153;11866537;16687656;18669648;19443450;20843780;25576301;25880248;26154972;26992070;27893789;28228285;28446606;28514659;28832583;28904123;29242379;29493099;29786170;30315122;30429286;30524438;31092671;31154438;31217245;31828326;31844290;31848261;32111912;32157095;32161166;32350084;32488085;32502341;32516598;32897882;32938616;32983136;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34171305;34561969;34932366;35051231;35561310;35580925;36010968;38605244;38705397", "class_list": "", "function": "Ape2 exhibits strong 3'-5' exonuclease and 3'-phosphodiesterase activities and has only a very weak AP-endonuclease activity. Publication Status: Online-Only, [RefSeq, PubMed]; Ape2 may be involved in repair of oxidative DNA damage and PCNA-dependent repair synthesis., [RefSeq, PubMed]; Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes a protein shown to have a weak class II AP endonuclease activity. Most of the encoded protein is located in the nucleus but some is also present in mitochondria. This protein may play an important role in both nuclear and mitochondrial base excision repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]., [RefSeq]; Determinants in nuclease specificity of Ape1 and Ape2, human homologues of Escherichia coli exonuclease III, [RefSeq, PubMed]; Functions as a weak apurinic/apyrimidinic (AP) endodeoxyribonuclease in the DNA base excision repair (BER) pathway of DNA lesions induced by oxidative and alkylating agents (PubMed:16687656). 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 displays double-stranded DNA 3'-5' exonuclease, 3'-phosphodiesterase activities (PubMed:16687656, PubMed:19443450, PubMed:32516598). Shows robust 3'-5' exonuclease activity on 3'-recessed heteroduplex DNA and is able to remove mismatched nucleotides preferentially (PubMed:16687656, PubMed:19443450). Also exhibits 3'-5' exonuclease activity on a single nucleotide gap containing heteroduplex DNA and on blunt-ended substrates (PubMed:16687656). Shows fairly strong 3'-phosphodiesterase activity involved in the removal of 3'-damaged termini formed in DNA by oxidative agents (PubMed:16687656, PubMed:19443450). In the nucleus functions in the PCNA-dependent BER pathway (PubMed:11376153). Plays a role in reversing blocked 3' DNA ends, problematic lesions that preclude DNA synthesis (PubMed:32516598). Required for somatic hypermutation (SHM) and DNA cleavage step of class switch recombination (CSR) of immunoglobulin genes (By similarity). Required for proper cell cycle progression during proliferation of peripheral lymphocytes (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Genomic alterations and abnormal expression of APE2 in multiple cancers. Publication Status: Online-Only, [RefSeq, PubMed]; We propose a two-step APE1/APE2-mediated mechanism for DNA single-strand breaks (SSBs) end resection that couples DNA damage response with SSB repair in a eukaryotic system., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 1, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 9671, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9Y5X7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0003906 DNA-(apurinic or apyrimidinic site) endonuclease activity;GO:0008081 phosphoric diester hydrolase activity;GO:0008311 double-stranded DNA 3'-5' DNA exonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0001650 fibrillar center", "go_biological_process": "GO:0006310 DNA recombination;GO:0006284 base-excision repair", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9UBZ4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q52MB2-1", "uniprot_id": [ { "id": "CC184_HUMAN", "url": "https://www.uniprot.org/uniprot/Q52MB2", "type": "external" } ], "mass": 20484.0, "length": 194, "protein_name": "Coiled-coil domain-containing protein 184", "gene_name": "CCDC184", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 184", "refseq_ac": [ { "id": "NP_001013657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013657", "type": "external" } ], "gene_names_uniprotkb": "CCDC184; C12orf68", "gene_names_refseq": "C12orf68; CCDC184", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 184", "protein_names_refseq": "coiled-coil domain-containing protein 184", "tax_id": 9606, "disease": "", "pathway": " (hsa:387856)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "23481700;29557506;31154438;32938616;35051231;37938771", "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": 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": "Q96MK5;Q96N39", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q52MB2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C086-1", "uniprot_id": [ { "id": "IN80B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C086", "type": "external" } ], "mass": 38637.0, "length": 356, "protein_name": "INO80 complex subunit B", "gene_name": "INO80B", "organism": "Human", "refseq_name": "INO80 complex subunit B", "refseq_ac": [ { "id": "NP_112578", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112578", "type": "external" } ], "gene_names_uniprotkb": "INO80B; HMGA1L4; PAPA1; ZNHIT4", "gene_names_refseq": "HMGA1L4; HMGIYL4; IES2; INO80B; PAP-1BP; PAPA-1; PAPA1; ZNHIT4; hIes2", "protein_names_uniprotkb": "INO80 complex subunit B; High mobility group AT-hook 1-like 4; IES2 homolog; PAP-1-associated protein 1; PAPA-1; Zinc finger HIT domain-containing protein 4; hIes2", "protein_names_refseq": "IES2 homolog; INO80 complex subunit B; PAP (Pim-1 associated protein) associated protein 1; PAP-1 binding protein; PAP-1-associated protein 1; high mobility group AT-hook 1-like 4; zinc finger HIT domain-containing protein 4; zinc finger, HIT type 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:83444); (R-HSA-5689603); (R-HSA-5696394)", "pathway_count": 3, "publication_count": 60, "publication_id_list": "10391953;11237011;11279143;12732143;12815074;12944386;14742321;15556297;15811629;15882621;15964821;16223728;16230350;16473935;16678110;16906146;17081983;17139257;17882165;18452278;18497827;18669648;18922472;19007248;19109893;19188440;19413330;19609301;19651622;19664995;19815555;20068231;20436459;20805357;20855601;21135142;21303910;21388382;22118460;23045548;23319653;23481700;25143393;2530630;25418920;28832583;28904123;29242379;29393594;29632046;31844290;32387766;33298915;33936100;33968037;34171305;35580925;8168482;9528852;9790970", "class_list": "", "function": "Induces growth and cell cycle arrests at the G1 phase of the cell cycle., [UniProtKB, PubMed]; Pathway-guided genome-wide meta-analysis and mutational analysis identified INO80B gene is a susceptibility gene for pre-eclampsia., [RefSeq, PubMed]; Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair., [UniProtKB, PubMed]; This gene encodes a subunit of an ATP-dependent chromatin remodeling complex, INO80, which plays a role in DNA and nucleosome-activated ATPase activity and ATP-dependent nucleosome sliding. Readthrough transcription of this gene into the neighboring downstream gene, which encodes WW domain-binding protein 1, generates a non-coding transcript. [provided by RefSeq, Feb 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": 14, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0031011 Ino80 complex;GO:0016604 nuclear body", "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": 6.1, "record_id": "Q9C086-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EZ8-1", "uniprot_id": [ { "id": "MCRS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EZ8", "type": "external" } ], "mass": 51803.0, "length": 462, "protein_name": "Microspherule protein 1", "gene_name": "MCRS1", "organism": "Human", "refseq_name": "microspherule protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001012300", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012300", "type": "external" } ], "gene_names_uniprotkb": "MCRS1; INO80Q; MSP58", "gene_names_refseq": "ICP22BP; INO80Q; MCRS1; MCRS2; MSP58; P78", "protein_names_uniprotkb": "Microspherule protein 1; 58 kDa microspherule protein; Cell cycle-regulated factor p78; INO80 complex subunit J; MCRS2", "protein_names_refseq": "58 kDa microspherule protein; INO80 complex subunit J; INO80 complex subunit Q; cell cycle-regulated factor (78 kDa); cell cycle-regulated factor p78; microspherule protein 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10445); (R-HSA-3214847); (R-HSA-5689603); (R-HSA-5696394); (R-HSA-9772755)", "pathway_count": 5, "publication_count": 203, "publication_id_list": "10391953;10786633;10821277;11237011;11279143;11948183;12393701;12482972;12670868;12732143;12815074;12944386;14636557;14742321;14992727;15044100;15199122;15313887;15345747;15811629;15882621;15960975;15964821;16223728;16227571;16230350;16239140;16387653;16473935;16547491;16565220;16571602;16678110;16829959;16878130;16892064;16906146;16959974;16964243;17014843;17139257;17355966;17500065;17612494;17671196;17882165;17925232;17998332;18381289;18452278;18497827;18598942;18623064;18669648;18829457;18829459;18838386;18838538;18922472;19007248;19103755;19109893;19124460;19187761;19187765;19188440;19413330;19556245;19608861;19609301;19651622;19664994;19664995;19690332;19815555;20018852;20068231;20436459;20575550;20716525;20805357;20855601;20961854;21106533;21124902;21131905;21135039;21135142;21220120;21303910;21388382;21406692;22081094;22118460;22266653;22327296;22645359;22652693;22665483;23045548;23186163;23319653;23508102;23995757;24244196;24275569;24368734;24397554;24680668;2530630;25418920;25561738;25576301;25593305;25645385;25802875;25816988;26024233;26154972;26324722;26375851;26811146;26886794;26929215;26992070;27192185;27263857;27397612;27563068;27698142;27760318;27846572;27862975;27920218;28182322;28218747;28228285;28398509;28649982;28832583;28855257;28904123;29138278;29242379;29371260;29393594;29437277;29493099;29557506;29632046;29786170;29897600;29937342;30315122;30410026;30429286;30524438;30779550;30785839;31400120;31485071;31544921;31844290;32265295;32357974;32488085;32502341;32938616;32983136;33141586;33298915;33537174;33592498;33633747;33657400;33912179;33936100;33968037;34012049;34087483;34171305;34185709;34357683;34933446;35033534;35051231;35190547;35439434;35580925;36010968;36241641;36350698;36384428;37478862;37938771;8168482;9427644;9528852;9558366;9654073;9765390;9790970;9880483", "class_list": "", "function": "MCRS1 modulates the heterogeneity of microtubule minus-end morphologies in mitotic spindles., [RefSeq, PubMed]; Modulates the transcription repressor activity of DAXX by recruiting it to the nucleolus (PubMed:11948183). As part of the NSL complex, may be involved in acetylation of nucleosomal histone H4 on several lysine residues (PubMed:20018852). Putative regulatory component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. May also be an inhibitor of TERT telomerase activity (PubMed:15044100). Binds to G-quadruplex structures in mRNA (PubMed:16571602). Binds to RNA homomer poly(G) and poly(U) (PubMed:16571602). Maintains RHEB at the lysosome in its active GTP-bound form and prevents its interaction with the mTORC1 complex inhibitor TSC2, ensuring activation of the mTORC1 complex by RHEB (PubMed:25816988). Stabilizes the minus ends of kinetochore fibers by protecting them from depolymerization, ensuring functional spindle assembly during mitosis (PubMed:22081094, PubMed:27192185). Following phosphorylation by TTK/MPS1, enhances recruitment of KIF2A to the minus ends of mitotic spindle microtubules which promotes chromosome alignment (PubMed:30785839). Regulates the morphology of microtubule minus ends in mitotic spindle by maintaining them in a closed conformation characterized by the presence of an electron-dense cap (PubMed:36350698). Regulates G2/M transition and spindle assembly during oocyte meiosis (By similarity). Mediates histone modifications and transcriptional regulation in germinal vesicle oocytes which are required for meiotic progression (By similarity). Also regulates microtubule nucleation and spindle assembly by activating aurora kinases during oocyte meiosis (By similarity). Contributes to the establishment of centriolar satellites and also plays a role in primary cilium formation by recruiting TTBK2 to the mother centriole which is necessary for removal of the CP110 cap from the mother centriole, an early step in ciliogenesis (PubMed:27263857). Required for epiblast development during early embryogenesis (By similarity). Essential for cell viability (PubMed:16547491)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Role in the modulation of Daxx-dependent transcriptional repression, [RefSeq, PubMed]; The molecular characteristics and functional roles of microspherule protein 1 (MCRS1) in gene expression, cell proliferation, and organismic development. 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": 10, "reported_mutagensis": 5, "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": "O14742;O75497;Q6VN53;Q7Z372", "ec_number_list": [], "go_molecular_function": "GO:0002151 G-quadruplex RNA binding;GO:0008266 poly(U) RNA binding;GO:0034046 poly(G) binding;GO:0010521 telomerase inhibitor activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0060382 regulation of DNA strand elongation;GO:0036211 protein modification process;GO:0033044 regulation of chromosome organization;GO:0006281 DNA repair;GO:0006310 DNA recombination", "synthesized_glycan_count": 0, "hit_score": 20.4, "record_id": "Q96EZ8-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TE85-1", "uniprot_id": [ { "id": "GRHL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TE85", "type": "external" } ], "mass": 70345.0, "length": 626, "protein_name": "Grainyhead-like protein 3 homolog", "gene_name": "GRHL3", "organism": "Human", "refseq_name": "grainyhead-like protein 3 homolog isoform 4", "refseq_ac": [ { "id": "NP_001181939", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181939", "type": "external" } ], "gene_names_uniprotkb": "GRHL3; SOM; TFCP2L4", "gene_names_refseq": "GRHL3; SOM; TFCP2L4; VWS2", "protein_names_uniprotkb": "Grainyhead-like protein 3 homolog; Sister of mammalian grainyhead; Transcription factor CP2-like 4", "protein_names_refseq": "grainyhead-like protein 3 homolog isoform 4; grainyhead-like protein 3 homolog; sister of mammalian grainyhead; transcription factor CP2-like 4; transcription factor hSOM1", "tax_id": 9606, "disease": "Van der Woude syndrome (Disease Ontology:DOID:0060239)", "pathway": " (hsa:57822)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;12549979;18814840;21081122;24360809;25347468;29557506;29702134;34888136;35051231;35075162;36901693;38383230;38429970", "class_list": "", "function": "A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22. Publication Status: Online-Only, [RefSeq, PubMed]; Data report the identification of Sister-of-Mammalian Grainyhead (SOM), which is phylogenetically aligned with grainyhead protein, and like grainyhead encodes a highly conserved developmental transcription factor. [Sister-of-Mammalian Grainyhead], [RefSeq, PubMed]; Dual role of GRHL3 in bladder carcinogenesis depending on histological subtypes., [RefSeq, PubMed]; GRHL3 Promotes Tumor Growth and Metastasis via the MEK Pathway in Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; GRHL3 strongly stimulated primary endothelial cell migration, suggesting that it is a putative tumor-angiogenesis factor., [RefSeq, PubMed]; Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis. Publication Status: Online-Only, [RefSeq, PubMed]; The GRHL3-regulated long non-coding RNA lnc-DC modulates keratinocytes differentiation by interacting with IGF2BP2 and up-regulating ZNF750., [RefSeq, PubMed]; This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010]., [RefSeq]; Transcription factor playing important roles in primary neurulation and in the differentiation of stratified epithelia of both ectodermal and endodermal origin (By similarity). Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes (PubMed:21081122, PubMed:25347468). xhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair (By similarity). Exhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair but is essential to form the epidermal barrier with TGM3 as critical direct target gene among others. Despite being dispensable during normal epidermal homeostasis in the adulthood, is again required for barrier repair after immune-mediated epidermal damage, regulates distinct gene batteries in embryonic epidermal differentiation and adult epidermal barrier reformation after injury. Plays unique and cooperative roles with GRHL2 in establishing distinct zones of primary neurulation. Essential for spinal closure, functions cooperatively with GRHL2 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure (By similarity). Also required for proper development of the oral periderm (PubMed:24360809). No genetic interaction with GRHL3, no functional cooperativity due to diverse target gene selectivity (PubMed:21081122)., [UniProtKB, PubMed, PubMed, UniProtKB, 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": 1, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A2A297;B2RCL1;G3XAF0;Q5TH78;Q86Y06;Q8N407", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0031490 chromatin DNA binding;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:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0032956 regulation of actin cytoskeleton organization;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0061436 establishment of skin barrier", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8TE85-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EL3-1", "uniprot_id": [ { "id": "RM53_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EL3", "type": "external" } ], "mass": 12107.0, "length": 112, "protein_name": "Large ribosomal subunit protein mL53", "gene_name": "MRPL53", "organism": "Human", "refseq_name": "large ribosomal subunit protein mL53", "refseq_ac": [ { "id": "NP_444278", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_444278", "type": "external" } ], "gene_names_uniprotkb": "MRPL53", "gene_names_refseq": "L53MT; MRPL53; mL53", "protein_names_uniprotkb": "Large ribosomal subunit protein mL53; 39S ribosomal protein L53, mitochondrial; L53mt; MRP-L53", "protein_names_refseq": "39S ribosomal protein L53, mitochondrial; large ribosomal subunit protein mL53; mitochondrial large ribosomal subunit protein mL53", "tax_id": 9606, "disease": "", "pathway": " (hsa:116540); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 30, "publication_id_list": "11237011;15358359;17803939;18429816;18782833;19524667;19716793;20068231;20186120;21907147;22172991;2250005;25233460;25278503;25838379;27029019;28832583;28892042;29053389;29242379;31611695;31844290;32157095;33243891;33878294;35051231;35251023;36302763;36596788;37141370", "class_list": "", "function": "Candidate gene for orofacial clefting, [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. A pseudogene corresponding to this gene is found on chromosome 1p. [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": 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:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q96EL3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15696-1", "uniprot_id": [ { "id": "U2AFM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15696", "type": "external" } ], "mass": 58045.0, "length": 482, "protein_name": "U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2", "gene_name": "ZRSR2", "organism": "Human", "refseq_name": "U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2", "refseq_ac": [ { "id": "NP_005080", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005080", "type": "external" } ], "gene_names_uniprotkb": "ZRSR2; U2AF1-RS2; U2AF1L2; U2AF1RS2; URP", "gene_names_refseq": "OFD21; U2AF1-RS2; U2AF1L2; U2AF1RS2; URP; ZC3H22; ZRSR2", "protein_names_uniprotkb": "U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2; CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 2; Renal carcinoma antigen NY-REN-20; U2(RNU2) small nuclear RNA auxiliary factor 1-like 2; U2AF35-related protein; URP", "protein_names_refseq": "U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2; U2 small nuclear ribonucleoprotein auxiliary factor, small subunit 2; U2(RNU2) small nuclear RNA auxiliary factor 1-like 2; U2AF35-related protein; renal carcinoma antigen NY-REN-20; zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); acute myeloid leukemia (Disease Ontology:DOID:9119); orofaciodigital syndrome 21 (MONDO:MONDO:0975827)", "pathway": " (hsa:8233); (R-HSA-72165)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10207048;10508479;11237011;11333026;11607023;15146077;17081983;17940139;18452278;18669648;19052544;19651622;19664994;20068231;21041408;21406692;23186163;23481700;24715725;2524422;26154972;26992070;27510544;30429286;31680349;31844290;32157095;32938616;34615655;35051231;35580925;38088204;38158857;38253038;8586425;8835860;9237760", "class_list": "", "function": "Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome., [RefSeq, PubMed]; 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]; Pre-mRNA-binding protein required for splicing of both U2- and U12-type introns. Selectively interacts with the 3'-splice site of U2- and U12-type pre-mRNAs and promotes different steps in U2 and U12 intron splicing. Recruited to U12 pre-mRNAs in an ATP-dependent manner and is required for assembly of the pre-spliceosome, a precursor to other spliceosomal complexes. For U2-type introns, it is selectively and specifically required for the second step of splicing., [UniProtKB, PubMed, PubMed]; Sex-Biased ZRSR2 Mutations in Myeloid Malignancies Impair Plasmacytoid Dendritic Cell Activation and Apoptosis., [RefSeq, PubMed]; This gene encodes an essential splicing factor. The encoded protein associates with the U2 auxiliary factor heterodimer, which is required for the recognition of a functional 3' splice site in pre-mRNA splicing, and may play a role in network interactions during spliceosome assembly. [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": 18, "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": "Q14D69", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0030628 pre-mRNA 3'-splice site binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005681 spliceosomal complex;GO:0005689 U12-type spliceosomal complex;GO:0089701 U2AF complex;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0008380 RNA splicing;GO:0000398 mRNA splicing, via spliceosome;GO:0000245 spliceosomal complex assembly", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q15696-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYH5-1", "uniprot_id": [ { "id": "ZZZ3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYH5", "type": "external" } ], "mass": 102023.0, "length": 903, "protein_name": "ZZ-type zinc finger-containing protein 3", "gene_name": "ZZZ3", "organism": "Human", "refseq_name": "ZZ-type zinc finger-containing protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001295166", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295166", "type": "external" } ], "gene_names_uniprotkb": "ZZZ3", "gene_names_refseq": "ATAC1; ZZZ3", "protein_names_uniprotkb": "ZZ-type zinc finger-containing protein 3", "protein_names_refseq": "ATAC component 1 homolog; ZZ-type zinc finger-containing protein 3 isoform 2; ZZ-type zinc finger-containing protein 3; zinc finger, ZZ domain containing 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:26009); (R-HSA-3214847); (R-HSA-9772755)", "pathway_count": 3, "publication_count": 122, "publication_id_list": "10786633;10821277;11237011;12393701;12482972;12670868;14636557;14992727;15199122;15313887;16227571;16239140;16387653;16829959;16878130;16892064;16959974;17355966;17500065;17525332;17612494;17671196;17925232;17998332;18381289;18452278;18598942;18623064;18669648;18829457;18829459;18838386;18838538;19103755;19124460;19187761;19187765;19556245;19608861;19651622;19691289;20018852;20068231;20575550;20716525;20961854;21106533;21124902;21131905;21135039;21220120;22266653;22327296;22652693;22665483;23186163;23301498;23508102;23995757;24244196;24368734;24680668;25561738;25593305;25755297;26324722;26886794;27563068;27698142;27760318;27846572;27862975;28182322;28398509;28832583;29138278;29242379;29393594;29493099;29557506;29786170;29897600;29937342;30217978;30315122;30379171;30429286;30833945;31154438;31400120;31485071;31544921;31844290;31848261;32157095;32161166;32357974;32387766;32897882;32938616;33298915;33592498;33657400;33912179;33968037;33981976;34012049;34933446;35033534;35051231;35190547;35254053;35439434;35561310;35580925;36010968;36241641;38701777;40596516;9427644;9558366;9880483", "class_list": "", "function": "Histone H3 reader that is required for the ATAC complex-mediated maintenance of histone acetylation and gene activation (PubMed:30217978). Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4 (PubMed:19103755)., [UniProtKB, PubMed, PubMed]; Study identifies the ZZ domain of ZZZ3 as a histone H3 reader that is required for the ATAC complex-mediated maintenance of histone acetylation and gene activation. Publication Status: Online-Only, [RefSeq, PubMed]; Unraveling the impact of ZZZ3 on the mTOR/ribosome pathway in human embryonic stem cells homeostasis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "reported_glycation": 0, "reported_snv": 19, "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": "B7WPC6;Q6N004;Q6N070;Q8IYP0;Q8IYR1;Q8TEK4;Q9Y4U0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0072686 mitotic spindle;GO:0140672 ATAC complex", "go_biological_process": "GO:0090043 regulation of tubulin deacetylation;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "Q8IYH5-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BSJ6-1", "uniprot_id": [ { "id": "PIMRE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BSJ6", "type": "external" } ], "mass": 27480.0, "length": 248, "protein_name": "Protein PIMREG", "gene_name": "PIMREG", "organism": "Human", "refseq_name": "protein PIMREG isoform 2", "refseq_ac": [ { "id": "NP_001182157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182157", "type": "external" } ], "gene_names_uniprotkb": "PIMREG; CATS; FAM64A; RCS1", "gene_names_refseq": "CATS; FAM64A; PIMREG; RCS1", "protein_names_uniprotkb": "Protein PIMREG; CALM-interactor expressed in thymus and spleen; PICALM-interacting mitotic regulator; Regulator of chromosome segregation protein 1", "protein_names_refseq": "CALM interacting protein expressed in thymus and spleen; CALM-interactor expressed in thymus and spleen; family with sequence similarity 64 member A; protein FAM64A; protein PIMREG isoform 2; protein PIMREG; regulator of chromosome segregation 1; regulator of chromosome segregation protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54478)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;16491119;18669648;18691976;18757745;19383357;20068231;21406692;23186163;23419774;25576301;27869121;28411811;28832583;29242379;30379171;31844290;32157095;32502341;33177704;33592498;34215720;35878427;36010968;37081231;37217939;37227120", "class_list": "", "function": "A bioinformatics analysis of the clinicopathological and prognostic significance of FAM64A mRNA expression in gynecological cancers., [RefSeq, PubMed]; Cell Cycle-Related FAM64A Could be Activated by TGF-beta Signaling to Promote Glioma Progression., [RefSeq, PubMed]; During mitosis, may play a role in the control of metaphase-to-anaphase transition., [UniProtKB, PubMed]; Excessive activation of HOXB13/PIMREG axis promotes hepatocellular carcinoma progression and drug resistance., [RefSeq, PubMed]; FAM64A is an androgen receptor-regulated feedback tumor promoter in prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular pathogenesis of breast cancer: impact of miR-99a-5p and miR-99a-3p regulation on oncogenic genes., [RefSeq, PubMed]; Moreover, we showed that CATS and KIS antagonize the transactivation capacity of CALM/AF10.In summary, our results show that CATS interacts with and is a substrate for KIS, suggesting that KIS regulates CATS 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": 7, "reported_mutagensis": 4, "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": "Q96CT4;Q9NVV1;Q9NWB5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9BSJ6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULW5-1", "uniprot_id": [ { "id": "RAB26_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULW5", "type": "external" } ], "mass": 27900.0, "length": 256, "protein_name": "Ras-related protein Rab-26", "gene_name": "RAB26", "organism": "Human", "refseq_name": "ras-related protein Rab-26 isoform 2", "refseq_ac": [ { "id": "NP_001294982", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294982", "type": "external" } ], "gene_names_uniprotkb": "RAB26", "gene_names_refseq": "RAB26; V46133", "protein_names_uniprotkb": "Ras-related protein Rab-26; 3.6.5.2", "protein_names_refseq": "Ras-related oncogene protein; ras-related protein Rab-26 isoform 2; ras-related protein Rab-26", "tax_id": 9606, "disease": "", "pathway": " (hsa:25837); (R-HSA-8873719)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "11043516;11141079;11237011;11389151;11447212;11675392;16401880;1648736;17114793;17411337;18532927;19603039;19913121;20038531;22694141;23105096;24023390;25341920;26969162;29393594;29493099;33731709;35051231;35291909;36610560;37931854;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8662963;8836150", "class_list": "", "function": "A GCC repeat in RAB26 undergoes natural selection in human and harbors divergent genotypes in late-onset Alzheimer's disease., [RefSeq, PubMed]; Members of the RAB protein family, including RAB26, are important regulators of vesicular fusion and trafficking. The RAB family of small G proteins regulates intercellular vesicle trafficking, including exocytosis, endocytosis, and recycling (summary by Seki et al., 2000 [PubMed 11043516]).[supplied by OMIM, Nov 2010]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RAB26 contributes to the progression of non-small cell lung cancer after being transcriptionally activated by SMAD3., [RefSeq, PubMed]; ROS induced the Rab26 promoter hypermethylation to promote cigarette smoking-induced airway epithelial inflammation of COPD through activation of MAPK signaling., [RefSeq, PubMed]; Rab26 suppresses migration and invasion of breast cancer cells through mediating autophagic degradation of phosphorylated Src. 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 set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). RAB26 mediates transport of ADRA2A and ADRA2B from the Golgi to the cell membrane (PubMed:23105096). Plays a role in the maturation of zymogenic granules and in pepsinogen secretion in the stomach (PubMed:20038531). Plays a role in the secretion of amylase from acinar granules in the parotid gland (By similarity)., [UniProtKB, 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": 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": "B2RAA6;Q3L6K5;Q6NXS7", "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": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "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:0046872 metal ion binding;GO:0019002 GMP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0030667 secretory granule membrane", "go_biological_process": "GO:0045055 regulated exocytosis;GO:0043001 Golgi to plasma membrane protein transport;GO:0017157 regulation of exocytosis;GO:0035272 exocrine system development;GO:0140251 regulation protein catabolic process at presynapse", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9ULW5-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHY3-1", "uniprot_id": [ { "id": "GA2L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHY3", "type": "external" } ], "mass": 96520.0, "length": 880, "protein_name": "GAS2-like protein 2", "gene_name": "GAS2L2", "organism": "Human", "refseq_name": "GAS2-like protein 2", "refseq_ac": [ { "id": "NP_644814", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_644814", "type": "external" } ], "gene_names_uniprotkb": "GAS2L2; GAR17", "gene_names_refseq": "CILD41; GAR17; GAS2L2", "protein_names_uniprotkb": "GAS2-like protein 2; GAS2-related protein on chromosome 17; Growth arrest-specific protein 2-like 2", "protein_names_refseq": "GAS2-like protein 2; GAS2-related protein on chromosome 17", "tax_id": 9606, "disease": "primary ciliary dyskinesia 41 (Disease Ontology:DOID:0111858); primary ciliary dyskinesia (Disease Ontology:DOID:9562)", "pathway": " (hsa:246176)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "12584248;23994616;24706950;28904123;30665704;34171305;35051231;35494241;36104176;39894887", "class_list": "", "function": "A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia., [RefSeq, PubMed]; GAS2L1 and GAS2L2 are differentially involved in mediating the crosstalk between F-actin and microtubules., [RefSeq, PubMed]; Involved in the cross-linking of microtubules and microfilaments (PubMed:12584248, PubMed:24706950). Regulates microtubule dynamics and stability by interacting with microtubule plus-end tracking proteins, such as MAPRE1, to regulate microtubule growth along actin stress fibers (PubMed:24706950). Enhances ADORA2-mediated adenylyl cyclase activation by acting as a scaffold to recruit trimeric G protein complexes to ADORA2A (By similarity). Regulates ciliary orientation and performance in cells located in the airway (PubMed:30665704)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Results show that a pathogenic variant in GAS2L2 causes a genetic defect in ciliary orientation and impairs mucociliary clearance and results in primary ciliary dyskinesia, [RefSeq, PubMed]; The beta isoforms of hGAR17 and hGAR22 appear to be able to crosslink microtubules and microfilaments, [RefSeq, PubMed]; The protein encoded by this gene appears to crosslink microtubules and microfilaments and may be part of the cytoskeleton. This gene is mainly expressed in skeletal muscle. [provided by RefSeq, Jul 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 21, "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": "Q8NHY4", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0051015 actin filament binding;GO:0008093 cytoskeletal anchor activity;GO:0001965 G-protein alpha-subunit binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0001725 stress fiber;GO:0036064 ciliary basal body", "go_biological_process": "GO:0031110 regulation of microtubule polymerization or depolymerization;GO:0045745 positive regulation of G protein-coupled receptor signaling pathway;GO:0007026 negative regulation of microtubule depolymerization;GO:0051764 actin crosslink formation;GO:0060296 regulation of cilium beat frequency involved in ciliary motility", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8NHY3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35813-1", "uniprot_id": [ { "id": "PPM1A_HUMAN", "url": "https://www.uniprot.org/uniprot/P35813", "type": "external" } ], "mass": 42448.0, "length": 382, "protein_name": "Protein phosphatase 1A", "gene_name": "PPM1A", "organism": "Human", "refseq_name": "protein phosphatase 1A isoform 1", "refseq_ac": [ { "id": "NP_066283", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066283", "type": "external" } ], "gene_names_uniprotkb": "PPM1A; PPPM1A", "gene_names_refseq": "PP2C-ALPHA; PP2CA; PP2Calpha; PPM1A", "protein_names_uniprotkb": "Protein phosphatase 1A; 3.1.3.16; PP2C-alpha; Protein phosphatase 2C isoform alpha; Protein phosphatase IA", "protein_names_refseq": "protein phosphatase 1A isoform 1; protein phosphatase 1A", "tax_id": 9606, "disease": "", "pathway": " (hsa:5494); (R-HSA-2173795); (R-HSA-380972)", "pathway_count": 3, "publication_count": 79, "publication_id_list": "10.1101/2023.09.13.557529;10197981;10199400;10485843;10531062;10535941;10549282;10587642;10587654;11018120;11237011;11389444;11427533;12805220;1311954;14511394;14517248;14614828;14985505;15579580;15820681;16156666;16751101;16751102;16943194;17438144;17510063;17591695;17592128;18439900;18568018;18930133;19054851;19135894;19690332;19917253;20213681;21095583;22045334;22781750;23301498;25255805;26992070;27153775;27846572;28218747;28228285;29242379;29351928;29437277;29557506;29577978;30267671;30410026;30429286;31844290;32157095;32350084;32938616;32983136;33592498;33717175;33968037;33981976;34561969;35051231;35154160;35318648;35421368;35580925;36179025;36284347;36756789;37938771;38908195;8549768;8779952;9003755;9707433", "class_list": "", "function": "Astrocytic NDRG2-PPM1A interaction exacerbates blood-brain barrier disruption after subarachnoid hemorrhage., [RefSeq, PubMed]; Enzyme with a broad specificity. Negatively regulates TGF-beta signaling through dephosphorylating SMAD2 and SMAD3, resulting in their dissociation from SMAD4, nuclear export of the SMADs and termination of the TGF-beta-mediated signaling. Dephosphorylates PRKAA1 and PRKAA2. Plays an important role in the termination of TNF-mediated NF-kappa-B activation through dephosphorylating and inactivating IKBKB/IKKB., [UniProtKB, PubMed, PubMed]; Extracellular PPM1A promotes mineralization of osteoblasts differentiation in ankylosing spondylitis via the FOXO1A-RUNX2 pathway., [RefSeq, PubMed]; Knockdown of TRIM65 suppressed the proliferation and invasiveness of gastric cancer cells by restricting the ubiquitin degradation of PPM1A., [RefSeq, PubMed]; Role of TRIM59 in regulating PPM1A in the pathogenesis of silicosis and the intervention effect of tanshinone IIA., [RefSeq, PubMed]; The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase dephosphorylates, and negatively regulates the activities of, MAP kinases and MAP kinase kinases. It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to activate the expression of the tumor suppressor gene TP53/p53, which leads to G2/M cell cycle arrest and apoptosis. Three 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": 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": 1, "reported_glycation": 0, "reported_snv": 8, "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": "B5BU11;J3KNM0;O75551", "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": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "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": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "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:0000287 magnesium ion binding;GO:0030145 manganese ion binding;GO:0004722 protein serine/threonine phosphatase activity;GO:0070412 R-SMAD binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0045893 positive regulation of DNA-templated transcription;GO:0043124 negative regulation of canonical NF-kappaB signal transduction;GO:1901223 negative regulation of non-canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "P35813-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86SE9-1", "uniprot_id": [ { "id": "PCGF5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86SE9", "type": "external" } ], "mass": 29714.0, "length": 256, "protein_name": "Polycomb group RING finger protein 5", "gene_name": "PCGF5", "organism": "Human", "refseq_name": "polycomb group RING finger protein 5", "refseq_ac": [ { "id": "NP_001243478", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243478", "type": "external" } ], "gene_names_uniprotkb": "PCGF5; RNF159", "gene_names_refseq": "PCGF5; RNF159", "protein_names_uniprotkb": "Polycomb group RING finger protein 5; RING finger protein 159", "protein_names_refseq": "RING finger protein 159; polycomb group RING finger protein 5; ring finger protein (C3HC4 type) 159", "tax_id": 9606, "disease": "", "pathway": " (hsa:84333); (R-HSA-8939243)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "16385451;16917507;18695000;20506188;22325351;23481700;25519132;25576301;26151332;27846572;28228285;28834231;28904123;29242379;29393594;30315122;30429286;31530632;31844290;32157095;32488085;32938616;32983136;33912179;33968037;35051231;35580925", "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 (PubMed:26151332). Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332). Plays a redundant role with PCGF3 as part of a PRC1-like complex that mediates monoubiquitination of histone H2A 'Lys-119' on the X chromosome and is required for normal silencing of one copy of the X chromosome in XX females (By similarity)., [UniProtKB, PubMed, UniProtKB]; 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": 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": "B7Z892;D3DR33;Q6PK47;Q86TD0", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0140862 histone H2AK119 ubiquitin ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0000785 chromatin;GO:0031519 PcG protein complex", "go_biological_process": "GO:0060816 random inactivation of X chromosome;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:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q86SE9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06702-1", "uniprot_id": [ { "id": "S10A9_HUMAN", "url": "https://www.uniprot.org/uniprot/P06702", "type": "external" } ], "mass": 13242.0, "length": 114, "protein_name": "Protein S100-A9", "gene_name": "S100A9", "organism": "Human", "refseq_name": "protein S100-A9", "refseq_ac": [ { "id": "NP_002956", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002956", "type": "external" } ], "gene_names_uniprotkb": "S100A9; CAGB; CFAG; MRP14", "gene_names_refseq": "60B8AG; CAGB; CFAG; CGLB; L1AG; LIAG; MAC387; MIF; MRP14; NIF; P14; S100-A9; S100A9", "protein_names_uniprotkb": "Protein S100-A9; Calgranulin-B; Calprotectin L1H subunit; Leukocyte L1 complex heavy chain; MRP-14; Migration inhibitory factor-related protein 14; S100 calcium-binding protein A9; p14", "protein_names_refseq": "MRP-14; calgranulin B; calprotectin L1H subunit; leukocyte L1 complex heavy chain; migration inhibitory factor-related protein 14; protein S100-A9", "tax_id": 9606, "disease": "urinary bladder cancer (Disease Ontology:DOID:11054); hepatocellular carcinoma (Disease Ontology:DOID:684); myocarditis (Disease Ontology:DOID:820)", "pathway": " (hsa:6280); (R-HSA-1236974); (R-HSA-166058); (R-HSA-3000471); (R-HSA-5602498); (R-HSA-5603041); (R-HSA-5668599); (R-HSA-5686938); (R-HSA-6798695); (R-HSA-6799990)", "pathway_count": 10, "publication_count": 283, "publication_id_list": "10026247;10072071;10103054;10400704;10455184;10465784;10734051;10772654;10938017;11090627;11145705;11509636;11544529;11708798;11724772;11851337;11861652;11960013;11988484;12056906;12105195;12110890;12138091;12138165;12140561;12214235;12297423;12447441;12447442;12626582;12637671;12651854;12716910;12724322;12817025;1286667;12874352;12947091;14530365;14625308;14726519;15299793;15331440;15576377;15585605;15591124;15598812;15642721;15690042;15824103;15866482;15905572;15944945;16024789;16030018;16213021;16216671;16258195;16276419;16329988;16368683;16439361;16488891;16507994;1660188;16636067;16751103;16754682;16762923;16778989;16834340;16855214;16878026;17101731;17141195;17485511;17553524;17583407;17710648;17726518;17767165;17876058;17878161;17878374;17890055;17893200;18070880;18070982;18318008;18347018;18354232;18438411;18458151;18558917;18559343;18566446;18669862;18692471;18786929;18829464;18990700;18991276;19087201;19112167;19117535;19122197;19217269;19224918;19237602;19367720;19372727;19402754;19451397;19498957;19506249;19509286;19534726;19562805;19592493;19592497;19740737;19810752;19835859;19935766;19935772;20037584;20058876;20068231;20103766;20213444;20305658;20473308;20485341;20523765;20813901;20956805;20966070;21239714;21325622;21487906;21606490;21871094;21912088;22095980;22153078;22230807;22344226;22363402;22454496;22457725;22489132;22747601;22804476;22808130;22898188;23276281;23289851;23431180;23446148;23613522;23650620;23875749;23980663;24275569;24316379;24583716;24715725;2478889;24833748;24840642;25083866;25417112;25418920;25576301;25597447;25673070;25877926;25880347;25892735;26154972;26296369;26374642;26375851;2656677;26992070;27397612;27558335;27600516;27726376;27742543;2776242;27790215;27846572;27862975;27920218;28218747;28228285;28467828;28649982;28832583;28834231;28855257;28904123;29204146;29314611;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30115681;30315122;30429286;30524438;30626607;30779550;30833945;31092671;31222486;31262951;31530632;31608988;31611695;31844290;32157095;32350084;32357974;32373127;32387766;32938616;32983136;32989935;33043033;33123756;3313057;33592498;33912179;33968037;3405210;34078123;34087483;34171305;34211107;34357683;34509645;34525359;34932366;35051231;35154160;35318648;35459695;35580925;36010968;36284347;37376412;37938771;38665916;38780644;39261771;39266214;39337466;39391311;40930100;7536797;7685021;7688729;8089108;8423249;8692836;8837778;9008162;9083090;9148942;9211901;9254056;9409200;9430229;9804763;9834113", "class_list": "glycogene", "function": "Calprotectin, an antimicrobial peptide with antibacterial activity inhibits the growth of Borrelia burgdorferi., [RefSeq, PubMed]; Dysregulated S100A9 Expression Impairs Matrix Deposition in Chronic Wounds. Publication Status: Online-Only, [RefSeq, PubMed]; Elevated levels of damage-associated molecular patterns HMGB1 and S100A8/A9 coupled with toll-like receptor-triggered monocyte activation are associated with inflammation in patients with myelofibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; Netrin-1-CD146 and netrin-1-S100A9 are associated with early stage of lymph node metastasis in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; S100A9 and HMGB1 orchestrate MDSC-mediated immunosuppression in melanoma through TLR4 signaling. Publication Status: Online-Only, [RefSeq, PubMed]; S100A9 is a calcium- and zinc-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response (PubMed:12626582, PubMed:15331440, PubMed:16258195, PubMed:19122197, PubMed:20103766, PubMed:21325622, PubMed:8423249). It can induce neutrophil chemotaxis, adhesion, can increase the bactericidal activity of neutrophils by promoting phagocytosis via activation of SYK, PI3K/AKT, and ERK1/2 and can induce degranulation of neutrophils by a MAPK-dependent mechanism (PubMed:12626582, PubMed:15331440, PubMed:20103766). Predominantly found as calprotectin (S100A8/A9) which has a wide plethora of intra- and extracellular functions (PubMed:16258195, PubMed:19122197, PubMed:8423249). The intracellular functions include: facilitating leukocyte arachidonic acid trafficking and metabolism, modulation of the tubulin-dependent cytoskeleton during migration of phagocytes and activation of the neutrophilic NADPH-oxidase (PubMed:15331440, PubMed:21325622). Also participates in regulatory T-cell differentiation together with CD69 (PubMed:26296369). Activates NADPH-oxidase by facilitating the enzyme complex assembly at the cell membrane, transferring arachidonic acid, an essential cofactor, to the enzyme complex and S100A8 contributes to the enzyme assembly by directly binding to NCF2/P67PHOX (PubMed:15642721, PubMed:22808130). The extracellular functions involve pro-inflammatory, antimicrobial, oxidant-scavenging and apoptosis-inducing activities (PubMed:19534726, PubMed:8423249). Its pro-inflammatory activity includes recruitment of leukocytes, promotion of cytokine and chemokine production, and regulation of leukocyte adhesion and migration (PubMed:15598812, PubMed:21487906). Acts as an alarmin or a danger associated molecular pattern (DAMP) molecule and stimulates innate immune cells via binding to pattern recognition receptors such as Toll-like receptor 4 (TLR4) and receptor for advanced glycation endproducts (AGER) (PubMed:19402754). Binding to TLR4 and AGER activates the MAP-kinase and NF-kappa-B signaling pathways resulting in the amplification of the pro-inflammatory cascade (PubMed:19402754, PubMed:22804476). Has antimicrobial activity towards bacteria and fungi and exerts its antimicrobial activity probably via chelation of Zn(2+) which is essential for microbial growth (PubMed:19087201). Can induce cell death via autophagy and apoptosis and this occurs through the cross-talk of mitochondria and lysosomes via reactive oxygen species (ROS) and the process involves BNIP3 (PubMed:19935772). Can regulate neutrophil number and apoptosis by an anti-apoptotic effect; regulates cell survival via ITGAM/ITGB and TLR4 and a signaling mechanism involving MEK-ERK (PubMed:22363402). Its role as an oxidant scavenger has a protective role in preventing exaggerated tissue damage by scavenging oxidants (PubMed:21912088, PubMed:22489132). Can act as a potent amplifier of inflammation in autoimmunity as well as in cancer development and tumor spread (PubMed:16258195). Has transnitrosylase activity; in oxidatively-modified low-densitity lipoprotein (LDL(ox))-induced S-nitrosylation of GAPDH on 'Cys-247' proposed to transfer the NO moiety from NOS2/iNOS to GAPDH via its own S-nitrosylated Cys-3 (PubMed:25417112). The iNOS-S100A8/A9 transnitrosylase complex is proposed to also direct selective inflammatory stimulus-dependent S-nitrosylation of multiple targets such as ANXA5, EZR, MSN and VIM by recognizing a [IL]-x-C-x-x-[DE] motif (PubMed:25417112)., [UniProtKB, 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 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 the inhibition of casein kinase and altered expression of this protein is associated with the disease cystic fibrosis. This antimicrobial protein exhibits antifungal and antibacterial activity. [provided by RefSeq, Nov 2014]., [RefSeq]; Usp14 deficiency removes alpha-synuclein by regulating S100A8/A9 in Parkinson's disease. 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": 6, "reported_glycation": 0, "reported_snv": 128, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic; predictive; monitoring", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DV36;Q6FGA1;Q9NYM0;Q9UCJ1", "ec_number_list": [], "go_molecular_function": "GO:0050786 RAGE receptor binding;GO:0008017 microtubule binding;GO:0008270 zinc ion binding;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006954 inflammatory response;GO:0007267 cell-cell signaling;GO:0010976 positive regulation of neuron projection development;GO:0030307 positive regulation of cell growth;GO:0034121 regulation of toll-like receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 28.6, "record_id": "P06702-1", "record_type": "protein", "filter_code": "0111000.1100111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26447-1", "uniprot_id": [ { "id": "S10A4_HUMAN", "url": "https://www.uniprot.org/uniprot/P26447", "type": "external" } ], "mass": 11729.0, "length": 101, "protein_name": "Protein S100-A4", "gene_name": "S100A4", "organism": "Human", "refseq_name": "protein S100-A4", "refseq_ac": [ { "id": "NP_002952", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002952", "type": "external" } ], "gene_names_uniprotkb": "S100A4; CAPL; MTS1", "gene_names_refseq": "18A2; 42A; CAPL; FSP1; MTS1; P9KA; PEL98; S100A4", "protein_names_uniprotkb": "Protein S100-A4; Calvasculin; Metastasin; Placental calcium-binding protein; Protein Mts1; S100 calcium-binding protein A4", "protein_names_refseq": "S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog); calcium placental protein; fibroblast-specific protein-1; leukemia multidrug resistance associated protein; malignant transformation suppression 1; metastasin 1; placental calcium-binding protein; protein Mts1; protein S100-A4", "tax_id": 9606, "disease": "", "pathway": " (hsa:6275)", "pathway_count": 1, "publication_count": 80, "publication_id_list": "11836260;12379109;1329089;1384693;14654843;1482346;16707441;19608861;19615748;20068231;22299025;23024279;23752197;24715725;25310523;25576301;26154972;26654597;26992070;27846572;27920218;28228285;28669632;28832583;29242379;29314611;29393594;29493099;29508533;29557506;29632711;29786170;30192525;30315122;30410026;30429286;30484775;30524438;30713770;30779550;30833945;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32387766;32442400;32488085;32897882;32983136;33043033;33141586;33214551;33392160;33936100;33968037;33981976;34087483;34171305;34357683;34561969;34932366;35051231;35083852;35318648;35561310;35580925;36215666;36241641;36284347;37217939;37938771;38609357;38678322;38953363;39009982;8341667", "class_list": "", "function": "ANXA9 facilitates S100A4 and promotes breast cancer progression through modulating STAT3 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Calcium-binding protein that plays a role in various cellular processes including motility, angiogenesis, cell differentiation, apoptosis, and autophagy (PubMed:16707441, PubMed:23752197, PubMed:30713770). Increases cell motility and invasiveness by interacting with non-muscle myosin heavy chain (NMMHC) IIA/MYH9 (PubMed:16707441). Mechanistically, promotes filament depolymerization and increases the amount of soluble myosin-IIA, resulting in the formation of stable protrusions facilitating chemotaxis (By similarity). Also modulates the pro-apoptotic function of TP53 by binding to its C-terminal transactivation domain within the nucleus and reducing its protein levels (PubMed:23752197). Within the extracellular space, stimulates cytokine production including granulocyte colony-stimulating factor and CCL24 from T-lymphocytes (By similarity). In addition, stimulates T-lymphocyte chemotaxis by acting as a chemoattractant complex with PGLYRP1 that promotes lymphocyte migration via CCR5 and CXCR3 receptors (PubMed:26654597, PubMed:30713770)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Long noncoding RNA VPS9D1-AS1 promotes the progression of endometrial cancer via regulation of the miR-187-3p/S100A4 axis., [RefSeq, PubMed]; The dual role of FSP1 in programmed cell death: resisting ferroptosis in the cell membrane and promoting necroptosis in the nucleus of THP-1 cells. 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 motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; [SRSF2 promotes glioblastoma cell proliferation by inducing alternative splicing of FSP1 and inhibiting ferroptosis]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K7R8;D3DV46;Q6ICP8", "ec_number_list": [], "go_molecular_function": "GO:0050786 RAGE receptor binding;GO:0003723 RNA binding;GO:0003779 actin binding;GO:0042056 chemoattractant activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031012 extracellular matrix", "go_biological_process": "GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0001837 epithelial to mesenchymal transition", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "P26447-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRT9-1", "uniprot_id": [ { "id": "SLD5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRT9", "type": "external" } ], "mass": 26047.0, "length": 223, "protein_name": "DNA replication complex GINS protein SLD5", "gene_name": "GINS4", "organism": "Human", "refseq_name": "DNA replication complex GINS protein SLD5", "refseq_ac": [ { "id": "NP_115712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115712", "type": "external" } ], "gene_names_uniprotkb": "GINS4; SLD5", "gene_names_refseq": "GINS4; SLD5", "protein_names_uniprotkb": "DNA replication complex GINS protein SLD5; GINS complex subunit 4", "protein_names_refseq": "DNA replication complex GINS protein SLD5; SLD5 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:84296); (R-HSA-176974)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "11237011;17081983;17170760;17417653;17545466;17557111;17611626;17652513;20068231;21406692;23301498;24366607;25576301;26154972;26375851;26758079;27846572;27893789;27920218;28414293;29393594;30315122;31217245;31530632;31844290;32161166;32387766;32453425;32502341;32938616;33592498;33691108;33912179;33936100;33968037;34509645;34694004;34700328;34932366;35051231;35585232;36273455;36345943;36628810;37508549", "class_list": "", "function": "Hsa_circ_0008673 Promotes Breast Cancer Progression by MiR-578/GINS4 Axis., [RefSeq, PubMed]; MicroRNA-133a-3p Inhibits Lung Adenocarcinoma Development and Cisplatin Resistance through Targeting GINS4., [RefSeq, PubMed]; Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia. Publication Status: Online-Only, [RefSeq, PubMed]; Required for correct functioning of the GINS complex, a complex that plays an essential role in the initiation of DNA replication, and progression of DNA replication forks (PubMed:17417653, PubMed:28414293). GINS complex is a core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built (PubMed:32453425, PubMed:34694004, PubMed:34700328, PubMed:35585232)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Required for initiation of chromosomal DNA replication. Core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built., [UniProtKB, UniProtKB]; The C-terminal domains of the Sld5 and Psf1 subunits are connected by linker regions to the core complex, and the C-terminal domain of Sld5 is important for core complex assembly., [RefSeq, PubMed]; The Molecular Pathogenesis of Tumor-Suppressive miR-486-5p and miR-486-3p Target Genes: GINS4 Facilitates Aggressiveness in Lung Adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The yeast heterotetrameric GINS complex is made up of Sld5, Psf1 (GINS1; MIM 610608), Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2R8H5;D3DSY0;Q8N648", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000811 GINS complex;GO:0071162 CMG complex", "go_biological_process": "GO:0006260 DNA replication;GO:0000727 double-strand break repair via break-induced replication;GO:0006261 DNA-templated DNA replication", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q9BRT9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15208-1", "uniprot_id": [ { "id": "STK38_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15208", "type": "external" } ], "mass": 54190.0, "length": 465, "protein_name": "Serine/threonine-protein kinase 38", "gene_name": "STK38", "organism": "Human", "refseq_name": "serine/threonine-protein kinase 38", "refseq_ac": [ { "id": "NP_001292031", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001292031", "type": "external" } ], "gene_names_uniprotkb": "STK38; NDR1", "gene_names_refseq": "NDR1; NDR; STK38", "protein_names_uniprotkb": "Serine/threonine-protein kinase 38; 2.7.11.1; NDR1 protein kinase; Nuclear Dbf2-related kinase 1", "protein_names_refseq": "NDR1 protein kinase; Ndr Ser/Thr kinase-like protein; nuclear Dbf2-related kinase 1; serine/threonine-protein kinase 38", "tax_id": 9606, "disease": "", "pathway": " (hsa:11329); (R-HSA-9013418); (R-HSA-9013422)", "pathway_count": 3, "publication_count": 83, "publication_id_list": "10567341;12493777;14661952;15067004;15107402;15197186;16135814;16314523;16884686;17344846;17906693;18160138;18362890;18669648;18835386;19062280;19377461;19836237;20068231;20112406;21262772;21730291;22142472;22645359;23186163;24608665;25418920;25576301;25645385;25880248;26154972;26387716;26992070;27283898;27314390;27846572;27862975;27920218;27941885;28063628;28322254;29242379;29393594;29493099;29557506;29632046;29786170;29983373;30410026;30429286;30484775;30779550;30896450;31154438;31217245;31431478;31690749;31844290;31848261;31871319;31998317;32157095;32265295;32350084;32357974;32387766;32502341;32537488;32938616;32983136;33592498;33968037;33981976;34561969;34670478;35051231;35508987;35561310;35580925;36232893;36284347;37987447;7761441", "class_list": "", "function": "Microautophagy regulated by STK38 and GABARAPs is essential to repair lysosomes and prevent aging., [RefSeq, PubMed]; NDR1 and NDR2 serine-threonine kinases are regulated by mob proteins, [RefSeq, PubMed]; NDR1 increases NOTCH1 signaling activity by impairing Fbw7 mediated NICD degradation to enhance breast cancer stem cell properties. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic and Immunological Role of STK38 across Cancers: Friend or Foe? Publication Status: Online-Only, [RefSeq, PubMed]; STK38 is a PPARgamma-interacting protein promoting adipogenesis., [RefSeq, PubMed]; Serine/threonine-protein kinase that acts as a negative regulator of MAP3K1/2 signaling (PubMed:12493777, PubMed:15197186, PubMed:17906693, PubMed:7761441). Converts MAP3K2 from its phosphorylated form to its non-phosphorylated form and inhibits autophosphorylation of MAP3K2 (PubMed:12493777, PubMed:15197186, PubMed:17906693, PubMed:7761441). Acts as an ufmylation 'reader' in a kinase-independent manner: specifically recognizes and binds mono-ufmylated histone H4 in response to DNA damage, promoting the recruitment of SUV39H1 to the double-strand breaks, resulting in ATM activation (PubMed:32537488)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the AGC serine/threonine kinase family of proteins. The kinase activity of this protein is regulated by autophosphorylation and phosphorylation by other upstream kinases. This protein has been shown to function in the cell cycle and apoptosis. This protein has also been found to regulate the protein stability and transcriptional activity of the MYC oncogene. 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "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": "Q503A1", "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": "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": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.2.3", "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": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "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": "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": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "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": "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:0045296 cadherin binding;GO:0031435 mitogen-activated protein kinase kinase kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0035861 site of double-strand break", "go_biological_process": "GO:0036211 protein modification process;GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0006974 DNA damage response;GO:0043407 negative regulation of MAP kinase activity", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q15208-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99909-1", "uniprot_id": [ { "id": "SSX3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99909", "type": "external" } ], "mass": 21697.0, "length": 188, "protein_name": "Protein SSX3", "gene_name": "SSX3", "organism": "Human", "refseq_name": "protein SSX3", "refseq_ac": [ { "id": "NP_066294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066294", "type": "external" } ], "gene_names_uniprotkb": "SSX3", "gene_names_refseq": "CT5.3; SSX3", "protein_names_uniprotkb": "Protein SSX3; CT5.3; Cancer/testis antigen 5.3", "protein_names_refseq": "Kruppel-associated box containing gene product SSX3; cancer/testis antigen 5.3; protein SSX3; synovial sarcoma, X breakpoint 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:10214)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;12007189;24645645;29557506;8697803;9378559", "class_list": "", "function": "Could act as a modulator of transcription., [UniProtKB]; SSX2, SSX3, and SSX4 are expressed only in 3.5% early-stage non-small cell lung cancer 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. While some of the related SSX genes are involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas, this gene does not appear to be involved in such translocations. [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": 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": "O60223;Q5JQZ3;Q9BRW7", "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": 0.7, "record_id": "Q99909-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXL8-1", "uniprot_id": [ { "id": "CDCA4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXL8", "type": "external" } ], "mass": 26114.0, "length": 241, "protein_name": "Cell division cycle-associated protein 4", "gene_name": "CDCA4", "organism": "Human", "refseq_name": "cell division cycle-associated protein 4", "refseq_ac": [ { "id": "NP_060425", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060425", "type": "external" } ], "gene_names_uniprotkb": "CDCA4; HEPP", "gene_names_refseq": "CDCA4; HEPP; SEI-3/HEPP; SEI-3; TRIP-Br3", "protein_names_uniprotkb": "Cell division cycle-associated protein 4; Hematopoietic progenitor protein", "protein_names_refseq": "cell division cycle-associated protein 4; hematopoietic progenitor protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55038)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11482882;16984923;18212344;18498124;18572021;23481700;24715725;25418920;25505266;25576301;25880248;26375851;28218747;28228285;28649982;28832583;28855257;29242379;29393594;29437277;30315122;30410026;30779550;31222486;31530632;31844290;32157095;32161166;32357974;32502341;32938616;32983136;33592498;33691108;33912179;33936100;33968037;33981976;34509645;34772428;34932366;35051231;35251007;35378000;35580925;36010968;36215666;36241641;36737405;37949419", "class_list": "", "function": "A Pan-Cancer Analysis of the Oncogenic Role of Cell Division Cycle-Associated Protein 4 (CDCA4) in Human Tumors. Publication Status: Online-Only, [RefSeq, PubMed]; ALKBH5 promotes the development of lung adenocarcinoma by regulating the polarization of M2 macrophages through CDCA4., [RefSeq, PubMed]; An important role of CDCA4 in the context of transcriptional regulation and cell fate determination through the JUN oncogene, [RefSeq, PubMed]; CDCA4 interacts with IGF2BP1 to regulate lung adenocarcinoma proliferation via the PI3K/AKT pathway., [RefSeq, PubMed]; CDCA4 participates in the regulation of cell proliferation, mainly through the E2F/retinoblastoma protein pathway, [RefSeq, PubMed]; Data suggest that CDCA4 is involved in spindle organization from prometaphase, and when anaphase begins, it may play a different role as a midzone factor involved in chromosome segregation or cytokinesis., [RefSeq, PubMed]; Isolation of the mouse ortholog and comparison to the human protein., [RefSeq, PubMed]; May participate in the regulation of cell proliferation through the E2F/RB pathway. May be involved in molecular regulation of hematopoietic stem cells and progenitor cell lineage commitment and differentiation (By similarity)., [UniProtKB, PubMed]; MiR-497-5p down-regulates CDCA4 to restrains lung squamous cell carcinoma progression. Publication Status: Online-Only, [RefSeq, PubMed]; STAT1 Mediates the Transcription of CircIFI30 and Promotes the Progression of Triple-Negative Breast Cancer by Up-Regulating CDCA4., [RefSeq, PubMed]; This gene encodes a protein that belongs to the E2F family of transcription factors. This protein regulates E2F-dependent transcriptional activation and cell proliferation, mainly through the E2F/retinoblastoma protein pathway. It also functions in the regulation of JUN oncogene expression. This protein shows distinctive nuclear-mitotic apparatus distribution, it is involved in spindle organization from prometaphase, and may also play a role as a midzone factor involved in chromosome segregation or cytokinesis. Two alternatively spliced transcript variants encoding the same protein have been noted for this gene. Two pseudogenes have also been identified on chromosome 1. [provided by RefSeq, May 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": 1, "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": "Q8TB18;Q9NWK7", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9BXL8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVL8-1", "uniprot_id": [ { "id": "FAME_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVL8", "type": "external" } ], "mass": 34690.0, "length": 296, "protein_name": "Factor associated with metabolism and energy", "gene_name": "CCDC198", "organism": "Human", "refseq_name": "factor associated with metabolism and energy isoform 1", "refseq_ac": [ { "id": "NP_001269985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269985", "type": "external" } ], "gene_names_uniprotkb": "CCDC198; C14orf105; FAME", "gene_names_refseq": "C14orf105; CCDC198; FAME", "protein_names_uniprotkb": "Factor associated with metabolism and energy; Protein CCDC198", "protein_names_refseq": "Factor Associated with Metabolism and Energy; factor associated with metabolism and energy isoform 1; uncharacterized protein C14orf105", "tax_id": 9606, "disease": "", "pathway": " (hsa:55195)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;29936472;37248239", "class_list": "", "function": "According to our analysis, three proteins, namely aristaless-like homeobox1 isoform X1 (ALX1), major histocompatibility complex polypeptide-related sequence A (MICA), and uncharacterized protein C14orf105 isoform X12 were found to be potential markers for Opisthorchis viverrini (OV)- infection, as they were predominantly found in all OV-infected groups, [RefSeq, PubMed]; May be involved in tuning the metabolism, energy expenditure, and excretion processes., [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q17R99;Q53G04", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0097009 energy homeostasis", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q9NVL8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01094-1", "uniprot_id": [ { "id": "E2F1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01094", "type": "external" } ], "mass": 46920.0, "length": 437, "protein_name": "Transcription factor E2F1", "gene_name": "E2F1", "organism": "Human", "refseq_name": "transcription factor E2F1", "refseq_ac": [ { "id": "NP_005216", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005216", "type": "external" } ], "gene_names_uniprotkb": "E2F1; RBBP3", "gene_names_refseq": "E2F-1; E2F1; RBAP1; RBBP3; RBP3", "protein_names_uniprotkb": "Transcription factor E2F1; E2F-1; PBR3; RBAP-1; RBBP-3; Retinoblastoma-associated protein 1; Retinoblastoma-binding protein 3; pRB-binding protein E2F-1", "protein_names_refseq": "PBR3; PRB-binding protein E2F-1; RBAP-1; RBBP-3; retinoblastoma-associated protein 1; retinoblastoma-binding protein 3 (E2F-like); retinoblastoma-binding protein 3; transcription factor E2F1", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); urinary bladder cancer (Disease Ontology:DOID:11054); Huntington's disease (Disease Ontology:DOID:12858); Sjogren's syndrome (Disease Ontology:DOID:12894); dementia (Disease Ontology:DOID:1307); pancreatic cancer (Disease Ontology:DOID:1793); glioblastoma (Disease Ontology:DOID:3068); high grade glioma (Disease Ontology:DOID:3070); osteosarcoma (Disease Ontology:DOID:3347); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); lung small cell carcinoma (Disease Ontology:DOID:5409); viral encephalitis (Disease Ontology:DOID:646); chronic myeloid leukemia (Disease Ontology:DOID:8552); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:1869); (R-HSA-111448); (R-HSA-113501); (R-HSA-1362277); (R-HSA-1362300); (R-HSA-139915); (R-HSA-1912408); (R-HSA-2559580); (R-HSA-2559585); (R-HSA-6804116); (R-HSA-68911); (R-HSA-69202); (R-HSA-69205); (R-HSA-69231); (R-HSA-69656); (R-HSA-8953750); (R-HSA-9616222); (R-HSA-9661069)", "pathway_count": 18, "publication_count": 382, "publication_id_list": "10207050;10228158;10233885;10323868;10330422;10347217;10358095;10375532;10385618;10428966;10454565;10454584;10499802;10597240;10675335;10692433;10722742;10772813;10807576;10831586;10871633;10891498;11003670;11032757;11073976;11157749;11171983;11231573;11231585;11234019;11242107;11340171;11369759;11416152;11418595;11459832;11463392;11564866;11572983;11585773;11684017;11719808;11782450;11812999;11867521;11883935;11884610;11907280;11959842;11988738;12004135;12134156;12189133;12193592;12242300;12421820;12435631;12435635;12444543;12501191;12598654;12692263;12697828;12702500;12717439;12730199;12782299;12808055;12869508;12909625;1312467;13130464;1396589;1423597;1448092;14507994;14517214;14517297;14527418;14532106;14580351;14597415;14633988;14684737;14729966;14729977;14766746;14990995;14991602;15014447;15133492;15287722;15469821;15472075;15510213;15536069;15563468;15572696;15579463;15684396;15716352;15722552;15866172;16186825;16195327;16211008;16337592;16360038;1638634;1638635;16436515;16582612;16612405;16751774;16782892;16826196;17001316;17050006;17063141;17081983;17092340;17210787;17254966;17254967;17254968;17255097;17332741;17344414;17344417;17395714;17531812;17540598;17540599;17554337;17562868;17600109;17685488;17699597;17704056;17719541;17765224;17823410;17825402;17875933;17908796;17991896;18194653;18202719;1826560;1828392;1828393;1828394;1831692;18365017;18414028;18562691;18625225;18669648;18676979;18710949;18776924;18793328;18794805;18794899;18827403;19075005;19150886;19451217;19451218;19458076;19462008;19487459;19528227;19661920;19690332;19714243;19723635;19773441;19896182;20040599;20080834;20090754;20107323;20176812;20351093;20442293;20442780;20447425;20495621;20534573;20603083;20661648;20663872;20801121;20805998;20817677;20843055;20952511;21280156;21402699;21423214;21471526;21498570;21551231;21596310;21602795;21653699;21715330;21875955;21955916;21986495;21993314;22020331;22110129;22172947;22184068;22325352;22336108;22371011;22474248;22558186;22683641;22802261;22802528;22802529;22945643;23001182;23007395;23064264;23079488;23365256;23622515;23629655;23737759;23796898;23954429;24379003;24515438;24584857;24627085;24876129;25064027;2524830;25418920;25576301;25733683;25784653;25880248;26375851;26977885;27175585;2721961;27452520;27600516;27846572;27903963;28218747;28228285;28467828;28832583;28992046;29101237;29242379;29393594;29431622;29437277;29493099;29557506;29632046;29691401;30711375;31154438;31170959;31222486;31543423;31844290;32157095;32265295;32357974;32502341;32596239;33110360;33141586;33174204;33298915;33592498;33691108;33968037;33981976;34171305;34932366;35051231;35678423;36010968;38253038;38992083;39014186;39128592;39172101;39894887;7494286;7535770;7588608;7588633;7623816;7629134;7743995;7797074;7799941;7816143;7824278;7838523;7859739;7862113;7929342;7954814;7958836;7958856;7969176;8001816;8033208;8050359;8078588;8087847;8114698;8114739;8139570;8170954;8242752;8246996;8259215;8288595;8319905;8336704;8413249;8497257;8552081;8618861;8622669;8622688;8626550;8695841;8700224;8741839;8774846;8846784;8846917;8878478;8943353;8964493;8974401;9020173;9030721;9042862;9106657;9144196;9162092;9177240;9190208;9195981;9199321;9325318;9342358;9447971;9448290;9482921;9501179;9508775;9520412;9529249;9564042;9628874;9632134;9662327;9689056;9693032;9704927;9768359;9778043;9780002;9824166;9891042", "class_list": "", "function": "ARHGEF39 targeted by E2F1 fosters hepatocellular carcinoma metastasis by mediating fatty acid metabolism., [RefSeq, PubMed]; DNMT1-Mediated the Downregulation of FOXF1 Promotes High Glucose-induced Podocyte Damage by Regulating the miR-342-3p/E2F1 Axis., [RefSeq, PubMed]; Epigenetically associated IGF2BP3 upregulation promotes cell proliferation by regulating E2F1 expression in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA HAGLR regulates gastric cancer progression by regulating the miR-20a-5p/E2F1 axis., [RefSeq, PubMed]; The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication (PubMed:10675335, PubMed:12717439, PubMed:17050006, PubMed:17704056, PubMed:18625225, PubMed:28992046). The DRTF1/E2F complex functions in the control of cell-cycle progression from G1 to S phase (PubMed:10675335, PubMed:12717439, PubMed:17704056). E2F1 binds preferentially RB1 in a cell-cycle dependent manner (PubMed:10675335, PubMed:12717439, PubMed:17704056). It can mediate both cell proliferation and TP53/p53-dependent apoptosis (PubMed:8170954). Blocks adipocyte differentiation by binding to specific promoters repressing CEBPA binding to its target gene promoters (PubMed:20176812). Directly activates transcription of PEG10 (PubMed:17050006, PubMed:18625225, PubMed:28992046). Positively regulates transcription of RRP1B (PubMed:20040599)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 9, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 19, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q13143;Q92768", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0019901 protein kinase binding;GO:0046983 protein dimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin;GO:0000228 nuclear chromosome", "go_biological_process": "GO:0070345 negative regulation of fat cell proliferation;GO:0060252 positive regulation of glial cell proliferation;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": 38.5, "record_id": "Q01094-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZT8-1", "uniprot_id": [ { "id": "NIF3L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZT8", "type": "external" } ], "mass": 41968.0, "length": 377, "protein_name": "NIF3-like protein 1", "gene_name": "NIF3L1", "organism": "Human", "refseq_name": "NIF3-like protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001129511", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129511", "type": "external" } ], "gene_names_uniprotkb": "NIF3L1; ALS2CR1; MDS015; My018", "gene_names_refseq": "ALS2CR1; CALS-7; MDS015; NIF3L1", "protein_names_uniprotkb": "NIF3-like protein 1; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 1 protein", "protein_names_refseq": "GTP cyclohydrolase I; NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1; NIF3 NGG1 interacting factor 3-like 1; NIF3-like protein 1 isoform 1; NIF3-like protein 1; amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 1; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 1 protein; putative GTP cyclohydrolase 1 type 2 NIF3L1", "tax_id": 9606, "disease": "", "pathway": " (hsa:60491)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11124544;11161814;11237011;12951069;18446792;19608861;24366607;25418920;28514659;29242379;29393594;29557506;29632046;30315122;31020640;31092671;31530632;31844290;31848261;32157095;32161166;32387766;32938616;33691108;33912179;33936100;34171305;34357683", "class_list": "", "function": "May function as a transcriptional corepressor through its interaction with COPS2, negatively regulating the expression of genes involved in neuronal differentiation., [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": 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": "Q53TX4;Q6X735;Q9H2D2;Q9HC18", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0030182 neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9GZT8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95218-1", "uniprot_id": [ { "id": "ZRAB2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95218", "type": "external" } ], "mass": 37404.0, "length": 330, "protein_name": "Zinc finger Ran-binding domain-containing protein 2", "gene_name": "ZRANB2", "organism": "Human", "refseq_name": "zinc finger Ran-binding domain-containing protein 2 isoform 2", "refseq_ac": [ { "id": "NP_005446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005446", "type": "external" } ], "gene_names_uniprotkb": "ZRANB2; ZIS; ZNF265", "gene_names_refseq": "ZIS1; ZIS2; ZIS; ZNF265; ZRANB2", "protein_names_uniprotkb": "Zinc finger Ran-binding domain-containing protein 2; Zinc finger protein 265; Zinc finger, splicing", "protein_names_refseq": "zinc finger Ran-binding domain-containing protein 2 isoform 2; zinc finger Ran-binding domain-containing protein 2; zinc finger protein 265; zinc finger, RAN-binding domain containing 2; zinc-finger, splicing", "tax_id": 9606, "disease": "", "pathway": " (hsa:9406)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "11230166;11448987;12657633;15302935;16982639;17081983;17287340;17322306;17525332;18212344;18220336;18318008;18452278;18669648;18707149;18767875;19007248;19052380;19413330;19415658;19562805;19608861;19651622;19664994;19664995;19690332;20068231;20166139;20230923;21256132;21406692;23186163;23301498;23481700;24275569;24715725;25505266;26992070;28218747;29393594;29437277;29493099;29557506;31222486;31844290;31848261;31943118;32119511;32157095;32938616;33043033;33214551;34019948;34171305;38665916;9931435", "class_list": "", "function": "Crystallization of a ZRANB2-RNA complex, [RefSeq, PubMed]; Sites responsible for MRNA binding have been characterized., [RefSeq, PubMed]; Splice factor required for alternative splicing of TRA2B/SFRS10 transcripts. Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3' (PubMed:21256132). May interfere with constitutive 5'-splice site selection., [UniProtKB, PubMed, PubMed]; These data identify Aletrnative splicing programs controlled by ZRANB2 and SYF2 and converging on ECT2, that participate to breast cancer cell resistance to doxorubicin., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "D3DQ75;Q53GS3;Q59F92;Q5VV33;Q5VV34;Q8IXN6;Q9UP63", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0001530 lipopolysaccharide binding", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "O95218-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P047-1", "uniprot_id": [ { "id": "CH074_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P047", "type": "external" } ], "mass": 33735.0, "length": 294, "protein_name": "Uncharacterized protein C8orf74", "gene_name": "C8orf74", "organism": "Human", "refseq_name": "uncharacterized protein C8orf74", "refseq_ac": [ { "id": "NP_001035121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035121", "type": "external" } ], "gene_names_uniprotkb": "C8orf74", "gene_names_refseq": "C8orf74", "protein_names_uniprotkb": "Uncharacterized protein C8orf74", "protein_names_refseq": "uncharacterized protein C8orf74", "tax_id": 9606, "disease": "", "pathway": " (hsa:203076)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;26811146;29557506;32265295", "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": "A2RUD6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6P047-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXY8-1", "uniprot_id": [ { "id": "BEX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXY8", "type": "external" } ], "mass": 15321.0, "length": 128, "protein_name": "Protein BEX2", "gene_name": "BEX2", "organism": "Human", "refseq_name": "protein BEX2 isoform 1", "refseq_ac": [ { "id": "NP_001161871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161871", "type": "external" } ], "gene_names_uniprotkb": "BEX2", "gene_names_refseq": "BEX1; BEX2; DJ79P11.1", "protein_names_uniprotkb": "Protein BEX2; Brain-expressed X-linked protein 2; hBex2", "protein_names_refseq": "brain-expressed X-linked protein 2; protein BEX2 isoform 1; protein BEX2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84707)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;15958283;16314316;16818640;19711341;25892735;29557506;31154438;31848261;32157095;32983136;33244819;33299012;34424582;37777549", "class_list": "", "function": "BEX2 is required for maintaining dormant cancer stem cell in hepatocellular carcinoma., [RefSeq, PubMed]; BEX2 suppresses mitochondrial activity and is required for dormant cancer stem cell maintenance in intrahepatic cholangiocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Crotonylated BEX2 interacts with NDP52 and enhances mitophagy to modulate chemotherapeutic agent-induced apoptosis in non-small-cell lung cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; HBex2 may act as a specific regulator during embryonic development by modulating the transcriptional activity of a novel E-box sequence-binding complex that contains hBex2, LMO2, NSCL2 and LDB1. Publication Status: Online-Only, [RefSeq, PubMed]; Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X-chromosome inactivation., [RefSeq, PubMed]; Regulator of mitochondrial apoptosis and G1 cell cycle in breast cancer (PubMed:19711341). Protects the breast cancer cells against mitochondrial apoptosis and this effect is mediated through the modulation of BCL2 protein family, which involves the positive regulation of anti-apoptotic member BCL2 and the negative regulation of pro-apoptotic members BAD, BAK1 and PUMA (PubMed:19711341). Required for the normal cell cycle progression during G1 in breast cancer cells through the regulation of CCND1 and CDKN1A (PubMed:19711341). Regulates the level of PP2A regulatory subunit B and PP2A phosphatase activity (PubMed:19711341). In absence of reductive stress, acts as a pseudosubstrate for the CRL2(FEM1B) complex: associates with FEM1B via zinc, thereby preventing association between FEM1B and its substrates (By similarity)., [UniProtKB, UniProtKB, PubMed]; This gene belongs to the brain expressed X-linked gene family. The encoded protein interacts with the transcription factor LIM domain only 2 in a DNA-binding complex that recognizes the E-box element and promotes transcription. This gene has been found to be a tumor suppressor that is silenced in human glioma. In breast cancer cells, this gene product modulates apoptosis in response to estrogen and tamoxifen, and enhances the anti-proliferative effect of tamoxifen. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]., [RefSeq]; Two novel brain expressed genes, BEX1 and BEX2 are identified; they are silenced in all glioma specimens and exhibit extensive promoter hypermethylation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2R574;D3DXA2;F5H7H5;Q5JVV9", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0046872 metal ion binding;GO:0140678 molecular function inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0006915 apoptotic process;GO:0042981 regulation of apoptotic process;GO:0031397 negative regulation of protein ubiquitination;GO:0051726 regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9BXY8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8U2-1", "uniprot_id": [ { "id": "CDYL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8U2", "type": "external" } ], "mass": 56500.0, "length": 506, "protein_name": "Chromodomain Y-like protein 2", "gene_name": "CDYL2", "organism": "Human", "refseq_name": "chromodomain Y-like protein 2", "refseq_ac": [ { "id": "NP_689555", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689555", "type": "external" } ], "gene_names_uniprotkb": "CDYL2", "gene_names_refseq": "CDYL2; PCCP1", "protein_names_uniprotkb": "Chromodomain Y-like protein 2; CDY-like 2", "protein_names_refseq": "CDY-like 2; chromodomain Y-like protein 2; chromodomain protein, Y-like 2; prostate cancer candidate protein 1, PCCP1", "tax_id": 9606, "disease": "", "pathway": " (hsa:124359)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;12837688;19724895;19844255;19851296;20068231;25892735;26154972;28832583;28904123;29242379;29493099;29557506;29769354;30315122;30379171;30484775;32157095;32357974;32373210;32387766;33141586;33298915;33968037;34509645;34980129;35051231;35314791;35561310;36010968;36215666;36241641;36658409;37217939;37938771", "class_list": "", "function": "Chromodomain on Y-like 2 (CDYL2) implicated in mitosis and genome stability regulation via interaction with CHAMP1 and POGZ. Publication Status: Online-Only, [RefSeq, PubMed]; CircCDYL2 promotes trastuzumab resistance via sustaining HER2 downstream signaling in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Discrete functional and mechanistic roles of chromodomain Y-like 2 (CDYL2) transcript variants in breast cancer growth and metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed]; STAT5A modulates CDYL2/SLC7A6 pathway to inhibit the proliferation and invasion of hepatocellular carcinoma by targeting to mTORC1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q7Z5I8", "ec_number_list": [], "go_molecular_function": "GO:0003714 transcription corepressor activity;GO:0061628 histone H3K27me3 reader activity;GO:0062072 histone H3K9me2/3 reader activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q8N8U2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H204-1", "uniprot_id": [ { "id": "MED28_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H204", "type": "external" } ], "mass": 19520.0, "length": 178, "protein_name": "Mediator of RNA polymerase II transcription subunit 28", "gene_name": "MED28", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 28", "refseq_ac": [ { "id": "NP_079481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079481", "type": "external" } ], "gene_names_uniprotkb": "MED28; EG1; FKSG20", "gene_names_refseq": "1500003D12Rik; EG1; MED28; magicin", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 28; Endothelial-derived protein 1; Magicin; Mediator complex subunit 28; Merlin and Grb2-interacting cytoskeletal protein; Tumor angiogenesis marker EG-1", "protein_names_refseq": "endothelial-derived gene 1; endothelial-derived protein 1; mediator of RNA polymerase II transcription subunit 28; mediator of RNA polymerase II transcription, subunit 28 homolog; merlin and Grb2-interacting cytoskeletal protein; tumor angiogenesis marker EG-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:80306); (R-HSA-1989781); (R-HSA-381340); (R-HSA-9833110)", "pathway_count": 4, "publication_count": 75, "publication_id_list": "10075656;10425206;10777541;11095972;11237011;11267664;11607032;11779215;11872672;12118000;12177166;12213831;12505311;12582161;12829629;14976261;15067378;15130092;15175163;15273253;15467741;15635043;15850785;15919796;15989967;16380219;16899217;16972786;17011499;17980149;18420935;18540824;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19710929;19934321;20101261;20110263;20410276;22090124;23239344;23481700;24196956;24715725;25505266;25854864;27920218;28228285;28904123;29393594;31217245;31844290;32161166;32502341;34019948;36072467;36102648;7685352;7892212;8325954;8643605;8647822;8706692;8770873;8970730;9012850;9065481;9454824;9748239;9836620", "class_list": "", "function": "Bioactive Vitamin D Attenuates MED28-Mediated Cell Growth and Epithelial-Mesenchymal Transition in Human Colorectal Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; 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. May be part of a complex containing NF2/merlin that participates in cellular signaling to the actin cytoskeleton downstream of tyrosine kinase signaling pathways., [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": 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": "Q9BZJ5", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0030864 cortical actin cytoskeleton;GO:0016592 mediator complex", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0032968 positive regulation of transcription elongation by RNA polymerase II;GO:0051123 RNA polymerase II preinitiation complex assembly;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9H204-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UGY1-1", "uniprot_id": [ { "id": "NOL12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UGY1", "type": "external" } ], "mass": 24663.0, "length": 213, "protein_name": "Nucleolar protein 12", "gene_name": "NOL12", "organism": "Human", "refseq_name": "nucleolar protein 12", "refseq_ac": [ { "id": "NP_077289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077289", "type": "external" } ], "gene_names_uniprotkb": "NOL12", "gene_names_refseq": "NOL12; Nop25; VITO; dJ37E16.7", "protein_names_uniprotkb": "Nucleolar protein 12", "protein_names_refseq": "nucleolar protein 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:79159); (R-HSA-6791226)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "11922599;12068309;12150911;16037817;16043514;16738141;17081983;17189298;17353269;17412707;18065403;18438418;19106111;19332556;19564402;19801658;20038530;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21153684;22072790;22190735;22195017;22916032;23439679;23482395;2388630;24424021;24550520;25525153;25576301;25969445;26237581;26992070;27846572;27920218;29069457;29393594;29632046;30988155;32387766;32938616;33717175;33912179;34171305;35051231;37217939;37695057;9482744", "class_list": "", "function": "Multifunctional RNA binding protein that plays a role in RNA metabolism and DNA maintenance. Participates in the resolution of DNA stress and the maintenance of genome integrity by localizing to sites of DNA insults (PubMed:29069457). Also plays a role in proper nucleolar organization by limiting nucleolar size and regulating nucleolar number. Mechanistically, regulates the nucleolar levels of fibrillarin and nucleolin, two key players in pre-rRNA processing and ribosome assembly (PubMed:30988155)., [UniProtKB, PubMed, PubMed]; Nol12 is an RNA binding protein required for both ribosome maturation and genome integrity, [RefSeq, PubMed]; Results show that NOL12 is important for nucleolar homeostasis, regulating its structure and the nucleolar levels of the multifunctional fibrillarin and nucleolin proteins. Moreover, NOL12 depletion to induce strong p53 activation leading to cell senescence suggesting an important role for NOL12 in replicative and chronological aging and its potential as aging biomarker. Publication Status: Online-Only, [RefSeq, PubMed]; The human cellular protein NoL12 is a specific partner of the HIV-1 nucleocapsid protein NCp7., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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:0042802 identical protein binding;GO:0019843 rRNA binding;GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q9UGY1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRS2-1", "uniprot_id": [ { "id": "RIOK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRS2", "type": "external" } ], "mass": 65583.0, "length": 568, "protein_name": "Serine/threonine-protein kinase RIO1", "gene_name": "RIOK1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase RIO1 isoform 1", "refseq_ac": [ { "id": "NP_113668", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113668", "type": "external" } ], "gene_names_uniprotkb": "RIOK1; RIO1", "gene_names_refseq": "AD034; RIO1; RIOK1; RRP10; bA288G3.1", "protein_names_uniprotkb": "Serine/threonine-protein kinase RIO1; 2.7.11.1; 3.6.1.-; RIO kinase 1", "protein_names_refseq": "serine/threonine-protein kinase RIO1 isoform 1; serine/threonine-protein kinase RIO1", "tax_id": 9606, "disease": "colon cancer (Disease Ontology:DOID:219)", "pathway": " (hsa:83732); (R-HSA-6791226)", "pathway_count": 2, "publication_count": 110, "publication_id_list": "11237011;11922599;12068309;12150911;16037817;16043514;16738141;17189298;17322306;17353269;17412707;18065403;18438418;18669648;19106111;19332556;19413330;19564402;19651622;19664994;19664995;19690332;19801658;20038530;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21081503;21097556;22072790;22190735;22195017;22869377;22916032;23186163;23439679;23482395;2388630;24424021;24550520;24715725;24948609;25525153;25576301;25645385;25810538;25969445;26154972;26237581;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29384474;29393594;29437277;29493099;29508533;29557506;29632046;29786170;29789417;30315122;30429286;30524438;31217245;31844290;31848261;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33908345;33912179;33936100;33968037;34185709;34509645;34561969;34932366;35051231;35580925;35589951;36010968;37217939;37301535;37938771;9482744", "class_list": "", "function": "Involved in the final steps of cytoplasmic maturation of the 40S ribosomal subunit. Involved in processing of 18S-E pre-rRNA to the mature 18S rRNA. Required for the recycling of NOB1 and PNO1 from the late 40S precursor (PubMed:22072790). The association with the very late 40S subunit intermediate may involve a translation-like checkpoint point cycle preceeding the binding to the 60S ribosomal subunit (By similarity). Despite the protein kinase domain is proposed to act predominantly as an ATPase (By similarity). The catalytic activity regulates its dynamic association with the 40S subunit (By similarity). In addition to its role in ribosomal biogenesis acts as an adapter protein by recruiting NCL/nucleolin the to PRMT5 complex for its symmetrical methylation (PubMed:21081503)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; RIOK1 mediates p53 degradation and radioresistance in colorectal cancer through phosphorylation of G3BP2., [RefSeq, PubMed]; RioK1, a new interactor of protein arginine methyltransferase 5 (PRMT5), competes with pICln for binding and modulates PRMT5 complex composition and substrate specificity., [RefSeq, PubMed]; The Oncogenic Protein Kinase/ATPase RIOK1 Is Up-Regulated via the c-myc/E2F Transcription Factor Axis in Prostate Cancer., [RefSeq, PubMed]; The final step of 40S ribosomal subunit maturation is controlled by a dual key lock. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene competes with pICln for inclusion in the protein arginine methyltransferase 5 complex. This complex targets substrates for dimethylation. The encoded protein is essential for the last steps in the maturation of 40S subunits. [provided by RefSeq, Jan 2017]., [RefSeq]; These data reveal a role of hRio1 in the final stages of cytoplasmic pre-40S maturation, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2RB28;Q8NDC8;Q96NV9", "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": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.11.21", "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": "2.1.1.-", "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": "3.6.4.6", "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": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.7.11.22", "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": "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": "2.7.11.23", "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": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "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": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "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": "2.7.1.153", "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": "3.6.5.-", "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": "2.7.11.12", "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": "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": "2.7.11.38", "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": "3.6.1.15", "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": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "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:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030688 preribosome, small subunit precursor;GO:0034708 methyltransferase complex", "go_biological_process": "GO:2000234 positive regulation of rRNA processing;GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q9BRS2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P98170-1", "uniprot_id": [ { "id": "XIAP_HUMAN", "url": "https://www.uniprot.org/uniprot/P98170", "type": "external" } ], "mass": 56685.0, "length": 497, "protein_name": "E3 ubiquitin-protein ligase XIAP", "gene_name": "XIAP", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase XIAP", "refseq_ac": [ { "id": "NP_001158", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158", "type": "external" } ], "gene_names_uniprotkb": "XIAP; API3; BIRC4; IAP3", "gene_names_refseq": "API3; BIRC4; IAP-3; ILP1; MIHA; XIAP; XLP2; hIAP-3; hIAP3", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase XIAP; 2.3.2.27; Baculoviral IAP repeat-containing protein 4; IAP-3; IAP-like protein; ILP; Inhibitor of apoptosis protein 3; RING-type E3 ubiquitin transferase XIAP; X-linked IAP; X-linked inhibitor of apoptosis protein; hIAP-3; hIAP3; hILP", "protein_names_refseq": "E3 ubiquitin-protein ligase XIAP; IAP-like protein 1; RING-type E3 ubiquitin transferase XIAP; X-linked IAP; X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase; baculoviral IAP repeat-containing protein 4; inhibitor of apoptosis protein 3", "tax_id": 9606, "disease": "X-linked lymphoproliferative syndrome 2 (Disease Ontology:DOID:0060706); prostate cancer (Disease Ontology:DOID:10283); breast cancer (Disease Ontology:DOID:1612); breast ductal carcinoma (Disease Ontology:DOID:3007); renal cell carcinoma (Disease Ontology:DOID:4450); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:331); (R-HSA-111459); (R-HSA-111463); (R-HSA-111464); (R-HSA-111469); (R-HSA-3769402); (R-HSA-5213460); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-5357956); (R-HSA-5675482); (R-HSA-8948747); (R-HSA-8948751); (R-HSA-9627069); (R-HSA-9958825)", "pathway_count": 15, "publication_count": 334, "publication_id_list": 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"class_list": "", "function": "Interleukin-1-mediated hyperinflammation in XIAP deficiency is associated with defective autophagy., [RefSeq, PubMed]; Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, copper homeostasis, mitogenic kinase signaling, cell proliferation, as well as cell invasion and metastasis (PubMed:11257230, PubMed:11257231, PubMed:11447297, PubMed:12121969, PubMed:12620238, PubMed:17560374, PubMed:17967870, PubMed:19473982, PubMed:20154138, PubMed:22103349, PubMed:9230442). Acts as a direct caspase inhibitor (PubMed:11257230, PubMed:11257231, PubMed:12620238). Directly bind to the active site pocket of CASP3 and CASP7 and obstructs substrate entry (PubMed:11257230, PubMed:11257231, PubMed:16352606, PubMed:16916640). Inactivates CASP9 by keeping it in a monomeric, inactive state (PubMed:12620238). Acts as an E3 ubiquitin-protein ligase regulating NF-kappa-B signaling and the target proteins for its E3 ubiquitin-protein ligase activity include: RIPK1, RIPK2, MAP3K2/MEKK2, DIABLO/SMAC, AIFM1, CCS, PTEN and BIRC5/survivin (PubMed:17560374, PubMed:17967870, PubMed:19473982, PubMed:20154138, PubMed:22103349, PubMed:22607974, PubMed:29452636, PubMed:30026309). Acts as an important regulator of innate immunity by mediating 'Lys-63'-linked polyubiquitination of RIPK2 downstream of NOD1 and NOD2, thereby transforming RIPK2 into a scaffolding protein for downstream effectors, ultimately leading to activation of the NF-kappa-B and MAP kinases signaling (PubMed:19667203, PubMed:22607974, PubMed:29452636, PubMed:30026309). 'Lys-63'-linked polyubiquitination of RIPK2 also promotes recruitment of the LUBAC complex to RIPK2 (PubMed:22607974, PubMed:29452636). Regulates the BMP signaling pathway and the SMAD and MAP3K7/TAK1 dependent pathways leading to NF-kappa-B and JNK activation (PubMed:17560374). Ubiquitination of CCS leads to enhancement of its chaperone activity toward its physiologic target, SOD1, rather than proteasomal degradation (PubMed:20154138). Ubiquitination of MAP3K2/MEKK2 and AIFM1 does not lead to proteasomal degradation (PubMed:17967870, PubMed:22103349). Plays a role in copper homeostasis by ubiquitinating COMMD1 and promoting its proteasomal degradation (PubMed:14685266). Can also function as E3 ubiquitin-protein ligase of the NEDD8 conjugation pathway, targeting effector caspases for neddylation and inactivation (PubMed:21145488). Ubiquitinates and therefore mediates the proteasomal degradation of BCL2 in response to apoptosis (PubMed:29020630). Protects cells from spontaneous formation of the ripoptosome, a large multi-protein complex that has the capability to kill cancer cells in a caspase-dependent and caspase-independent manner (PubMed:22095281). Suppresses ripoptosome formation by ubiquitinating RIPK1 and CASP8 (PubMed:22095281). Acts as a positive regulator of Wnt signaling and ubiquitinates TLE1, TLE2, TLE3, TLE4 and AES (PubMed:22304967). Ubiquitination of TLE3 results in inhibition of its interaction with TCF7L2/TCF4 thereby allowing efficient recruitment and binding of the transcriptional coactivator beta-catenin to TCF7L2/TCF4 that is required to initiate a Wnt-specific transcriptional program (PubMed:22304967)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Systematic analysis of PANoptosis-related genes identifies XIAP as a functional oncogene in breast cancer., [RefSeq, PubMed]; This gene encodes a protein that belongs to a family of apoptotic suppressor proteins. Members of this family share a conserved motif termed, baculovirus IAP repeat, which is necessary for their anti-apoptotic function. This protein functions through binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2 and inhibits apoptosis induced by menadione, a potent inducer of free radicals, and interleukin 1-beta converting enzyme. This protein also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7. Mutations in this gene are the cause of X-linked lymphoproliferative syndrome. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2 and 11.[provided by RefSeq, Feb 2011]., [RefSeq]; Understanding the molecular mechanism of pathogenic variants of BIR2 domain in XIAP-deficient inflammatory bowel disease. 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": 10, "reported_mutagensis": 25, "reported_glycation": 0, "reported_snv": 20, "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": "D3DTF2;Q9NQ14", "ec_number_list": [ { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "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": "2.4.1.255", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.255", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.4.22.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.56", "type": "external" }, { "id": "3.4.22.60", "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": "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": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.3.2.23", "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": "3.4.22.61", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.61", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity;GO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic process", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0070427 nucleotide-binding oligomerization domain containing 1 signaling pathway;GO:0070431 nucleotide-binding oligomerization domain containing 2 signaling pathway;GO:0060785 regulation of apoptosis involved in tissue homeostasis;GO:0032496 response to lipopolysaccharide;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 33.7, "record_id": "P98170-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99459-1", "uniprot_id": [ { "id": "CDC5L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99459", "type": "external" } ], "mass": 92251.0, "length": 802, "protein_name": "Cell division cycle 5-like protein", "gene_name": "CDC5L", "organism": "Human", "refseq_name": "cell division cycle 5-like protein", "refseq_ac": [ { "id": "NP_001244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244", "type": "external" } ], "gene_names_uniprotkb": "CDC5L; KIAA0432; PCDC5RP", "gene_names_refseq": "CDC5-LIKE; CDC5L; CDC5; CEF1; PCDC5RP; dJ319D22.1", "protein_names_uniprotkb": "Cell division cycle 5-like protein; Cdc5-like protein; Pombe cdc5-related protein", "protein_names_refseq": "CDC5 cell division cycle 5-like; Cdc5-related protein; cell division cycle 5-like protein; dJ319D22.1 (CDC5-like protein); pombe cdc5-related protein", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574); osteosarcoma (Disease Ontology:DOID:3347); esophagus adenocarcinoma (Disease Ontology:DOID:4914)", "pathway": " (hsa:988); (R-HSA-72163); (R-HSA-9918481)", "pathway_count": 3, "publication_count": 198, "publication_id_list": "10570151;10827081;10882114;11014198;11082045;11101529;11233976;11544257;11747608;11991638;12176931;12411573;12414731;12477934;12927788;14519844;14625303;14713954;14729942;14762106;15084397;16314458;16809785;17081983;17095540;17332742;17606899;18220336;18322460;18452278;18583928;18593880;18669648;18722174;19103666;19165350;19413330;19536130;19664994;19690332;20068231;20176811;20423332;20980672;21385873;21406692;21536652;2176635;21911577;22110043;22365833;22869377;22959432;22961380;23022480;23186163;23222130;23236153;23345524;23481700;24196718;24275569;24304693;24332808;24448447;24714562;24715725;24737827;24914973;25555158;25576301;2558966;25755297;25772364;25810538;26092250;26154972;26375851;26385511;26420826;26728094;26758079;26969736;26992070;27108190;27377154;27397612;27459055;27600516;27683217;27846572;27862975;27920218;28062851;28063628;28076346;28218747;28228285;28502770;28510447;28514659;28781166;28832583;28834231;28904123;29242379;29301961;29331515;29351928;29360106;29361316;29393594;29493099;29508533;29557506;29632046;29632711;2963332;29786170;29902443;30315122;30315277;30429286;30599162;30705154;30728453;30765414;30779550;30975767;31154438;31409651;31530632;31844290;31848261;32119511;32157095;32161166;32179686;32329775;32350084;32387766;32484799;32488085;32494006;32502341;32522876;32897882;32938616;32983136;33177556;33214551;33243851;33298915;33446560;33509932;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34229054;34301950;34509645;34561969;34822310;35051231;35215846;35251023;35318648;35385551;35580925;36010968;36229594;36284347;36581221;37217939;3757028;37938771;38665916;40596516;8566756;8608946;8917598;9016565;9038199;9242493;9468527;9512519;9524131;9539711;9598309;9632794;9671485;9701291;9731529", "class_list": "", "function": "DNA-binding protein involved in cell cycle control. May act as a transcription activator. Plays a role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes (PubMed:11991638, PubMed:20176811, PubMed:28076346, PubMed:28502770, PubMed:29301961, PubMed:29360106, PubMed:29361316, PubMed:30705154, PubMed:30728453). Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. The PRP19-CDC5L complex may also play a role in the response to DNA damage (DDR) (PubMed:20176811). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable)., [UniProtKB, 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 shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. [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": 11, "reported_glycation": 0, "reported_snv": 16, "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": "Q76N46;Q99974", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0016607 nuclear speck", "go_biological_process": "GO:0006281 DNA repair;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:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 20.1, "record_id": "Q99459-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P24522-1", "uniprot_id": [ { "id": "GA45A_HUMAN", "url": "https://www.uniprot.org/uniprot/P24522", "type": "external" } ], "mass": 18336.0, "length": 165, "protein_name": "Growth arrest and DNA damage-inducible protein GADD45 alpha", "gene_name": "GADD45A", "organism": "Human", "refseq_name": "growth arrest and DNA damage-inducible protein GADD45 alpha isoform 2", "refseq_ac": [ { "id": "NP_001186670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186670", "type": "external" } ], "gene_names_uniprotkb": "GADD45A; DDIT1; GADD45", "gene_names_refseq": "DDIT1; GADD45A; GADD45", "protein_names_uniprotkb": "Growth arrest and DNA damage-inducible protein GADD45 alpha; DDIT-1; DNA damage-inducible transcript 1 protein", "protein_names_refseq": "DDIT-1; DNA damage-inducible transcript 1 protein; DNA damage-inducible transcript-1; growth arrest and DNA damage-inducible protein GADD45 alpha isoform 2; growth arrest and DNA damage-inducible protein GADD45 alpha; growth arrest and DNA-damage-inducible 45 alpha", "tax_id": 9606, "disease": "systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:1647); (R-HSA-6804114); (R-HSA-9617828)", "pathway_count": 3, "publication_count": 87, "publication_id_list": "10524633;11237011;11574543;11884591;11964479;12716909;15084259;15186775;15458387;15574328;16421274;16772293;17172876;17719541;18444242;18991276;1990262;20460379;21136679;22645359;22898188;23186163;23481700;23485469;23580232;23918930;24047697;24096481;25418920;25576301;25843800;26024233;26154972;26992070;27600516;27862975;27920218;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;30315122;30410026;30779550;31092671;31154438;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33537174;33592498;33633747;33968037;33981976;34087483;34405274;34509645;34561969;35051231;35318648;35580925;36010968;36215666;36241641;37946177;38579286;38682208;38904412;7784094;7973727;8226988;9659898", "class_list": "", "function": "AGEs induce MMP-9 promoter demethylation through the GADD45alpha-mediated BER pathway to promote breast cancer metastasis in patients with diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; Activation of the MEK/ERK Pathway Mediates the Inhibitory Effects of Silvestrol on Nasopharyngeal Carcinoma Cells via RAP1A, HK2, and GADD45A., [RefSeq, PubMed]; IRE1-mediated degradation of pre-miR-301a promotes apoptosis through upregulation of GADD45A. Publication Status: Online-Only, [RefSeq, PubMed]; In T-cells, functions as a regulator of p38 MAPKs by inhibiting p88 phosphorylation and activity (By similarity). Might affect PCNA interaction with some CDK (cell division protein kinase) complexes; stimulates DNA excision repair in vitro and inhibits entry of cells into S phase., [UniProtKB]; Loss of the stress sensor GADD45A promotes stem cell activity and ferroptosis resistance in LGR4/HOXA9-dependent AML., [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 DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q5TCA7;Q5TCA8", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0019900 kinase binding;GO:1990841 promoter-specific chromatin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006281 DNA repair;GO:0043065 positive regulation of apoptotic process;GO:0046330 positive regulation of JNK cascade;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "P24522-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13233-1", "uniprot_id": [ { "id": "M3K1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13233", "type": "external" } ], "mass": 164470.0, "length": 1512, "protein_name": "Mitogen-activated protein kinase kinase kinase 1", "gene_name": "MAP3K1", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase 1 isoform 1", "refseq_ac": [ { "id": "NP_005912", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005912", "type": "external" } ], "gene_names_uniprotkb": "MAP3K1; MAPKKK1; MEKK1; MEKK", "gene_names_refseq": "MAP3K1; MAPKKK1; MEKK 1; MEKK1; MEKK; SRXY6", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase 1; 2.3.2.27; 2.7.11.25; MAPK/ERK kinase kinase 1; MEK kinase 1; MEKK 1", "protein_names_refseq": "MAP/ERK kinase kinase 1; MAPK/ERK kinase kinase 1; MEK kinase 1; mitogen-activated protein kinase kinase kinase 1 isoform 1; mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase", "tax_id": 9606, "disease": "diffuse gastric cancer (Disease Ontology:DOID:0080763); 46,XY sex reversal 6 (Disease Ontology:DOID:0111769); stomach cancer (Disease Ontology:DOID:10534); breast cancer (Disease Ontology:DOID:1612); rectum cancer (Disease Ontology:DOID:1993); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:4214); (R-HSA-166058); (R-HSA-2871796); (R-HSA-933542); (R-HSA-975138); (R-HSA-975871)", "pathway_count": 6, "publication_count": 156, "publication_id_list": "10026222;10395673;10465784;10523831;11007481;11278486;11306453;11340169;11369754;11544529;11804587;11960013;12049732;12138165;12140561;12221085;12223491;12228228;12297423;12447441;12447442;12670394;12724322;14625308;15262978;15548136;15585605;15944945;16024789;16439361;16751103;17101801;17141195;17344846;17485511;17540168;17726518;17761173;17878161;17890055;17906693;18070880;18070982;18220336;18438411;18669648;18691976;18829464;19124833;19224918;19369195;19498957;19509286;19574218;19592493;19592497;19592646;19666475;19909365;20485341;20966070;21129722;21606490;22454496;23186163;23481700;24029068;24397554;24715725;24840642;25576301;25880248;26154972;26992070;27486656;27600516;28218747;28228285;28832583;28834231;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29499695;29508533;29557506;29632711;29786170;30315122;30429286;30524438;30779550;31092671;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938750;32983136;33091337;33123756;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34561969;34932366;35051231;35318648;35580925;36010968;36241641;36284347;37166744;37217939;37314251;37592023;38253038;39317195;39443331;7855889;7997270;8493579;8597633;8649450;8663278;8673706;8702662;8837778;8986718;8995445;9008162;9099726;9199344;9430229;9639556;9689078;9808624;9989831", "class_list": "", "function": "A disease-associated PPP2R3C-MAP3K1 phospho-regulatory module controls centrosome function., [RefSeq, PubMed]; Component of a protein kinase signal transduction cascade (PubMed:9808624). Activates the ERK and JNK kinase pathways by phosphorylation of MAP2K1 and MAP2K4 (PubMed:9808624). May phosphorylate the MAPK8/JNK1 kinase (PubMed:17761173). Activates CHUK and IKBKB, the central protein kinases of the NF-kappa-B pathway (PubMed:9808624)., [UniProtKB, PubMed, PubMed]; Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk. Erratum:[Nat Genet. 2023 Nov;55(11):2009. doi: 10.1038/s41588-023-01549-x. PMID: 37752376], [RefSeq, PubMed]; MAP3K1 expression is associated with progression and poor prognosis of hormone receptor-positive, HER2-negative early-stage breast cancer., [RefSeq, PubMed]; Mitogen-activated protein kinase kinase kinase 1 facilitates the temozolomide resistance and migration of GBM via the MEK/ERK signalling., [RefSeq, PubMed]; The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]., [RefSeq]; Whole exome sequencing identifies MAP3K1, MSH2, and MLH1 as potential cancer-predisposing genes in familial early-onset 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": 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": 23, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 102, "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": "", "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": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "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": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "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:0008270 zinc ion binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005829 cytosol;GO:0070160 tight junction", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0000165 MAPK cascade;GO:0071260 cellular response to mechanical stimulus;GO:0038095 Fc-epsilon receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "Q13233-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13523-1", "uniprot_id": [ { "id": "PRP4K_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13523", "type": "external" } ], "mass": 116987.0, "length": 1007, "protein_name": "Serine/threonine-protein kinase PRP4 homolog", "gene_name": "PRP4K", "organism": "Human", "refseq_name": "serine/threonine-protein kinase PRP4 homolog", "refseq_ac": [ { "id": "NP_003904", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003904", "type": "external" } ], "gene_names_uniprotkb": "PRP4K; KIAA0536; PRP4B; PRP4H; PRP4; PRPF4K", "gene_names_refseq": "PR4H; PRP4H; PRP4K; PRP4; PRPF4B; Prp4B; dJ1013A10.1", "protein_names_uniprotkb": "Serine/threonine-protein kinase PRP4 homolog; 2.7.11.1; PRP4 kinase; PRP4 pre-mRNA-processing factor 4 homolog", "protein_names_refseq": "PRP4 kinase; PRP4 pre-mRNA processing factor 4 homolog B; PRP4 pre-mRNA-processing factor 4 homolog; dJ1013A10.1 (PRP4 protein kinase homolog); pre-mRNA processing factor 4B; protein-serine/threonine kinase; serine/threonine-protein kinase PRP4 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:8899); (R-HSA-72163)", "pathway_count": 2, "publication_count": 173, "publication_id_list": "10799319;10882114;11014198;11101529;11233976;11237011;11418604;11991638;12077342;12176931;12411573;12414731;12477934;14625303;14713954;15302935;15592455;15951569;16314458;16497976;16565220;16809785;16959974;16964243;17016520;17081983;17095540;17322306;17332742;17344846;17389395;17513757;17606899;17924679;17998396;18212344;18322460;18452278;18593880;18669648;18707149;18767875;19007248;19103666;19165350;19413330;19415658;19536130;19608861;19651622;19664995;19690332;19691289;19901323;20058876;20068231;20118938;20166139;20423332;20980672;21406692;21536652;2176635;22110043;22223895;22365833;22959432;22961380;23186163;23222130;23236153;23345524;23481700;24196718;24275569;24304693;24448447;24737827;24914973;25114211;25218447;25555158;25576301;2558966;25755297;25892735;26154972;26385511;26420826;26969736;26992070;27377154;27459055;27600516;27683217;27846572;27920218;28062851;28076346;28502770;28510447;28514659;28781166;28832583;28834231;28904123;29242379;29301961;29351928;29360106;29361316;29393594;29493099;29557506;2963332;29695716;29786170;30315277;30379171;30410026;30484775;30705154;30728453;30765414;30975767;31409651;31844290;32157095;32179686;32329775;32488085;32494006;32502341;32938616;32983136;33141586;33214551;33243851;33446560;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34301950;34561969;34822310;34932366;35051231;35281802;35328513;35385551;35580925;36010968;36284347;37217939;3757028;37938771;38665916;40531620;8566756;8608946;9016565;9102632;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "PRP4 Induces Epithelial-Mesenchymal Transition and Drug Resistance in Colon Cancer Cells via Activation of p53. Publication Status: Online-Only, [RefSeq, PubMed]; PRP4K regulates autophagy by controlling the pre-mRNA splicing of the ESCRT-III gene, CHMP4B. The PRP4K-CHMP4B/vps32 splicing circuit is conserved over at least 600 million years of evolution from the protist Dictyostelium discoideum to humans., [RefSeq, PubMed]; Pre-mRNA splicing occurs in two sequential transesterification steps, and the protein encoded by this gene is thought to be involved in pre-mRNA splicing and in signal transduction. This protein belongs to a kinase family that includes serine/arginine-rich protein-specific kinases and cyclin-dependent kinases (CDKs). This protein is regarded as a CDK-like kinase (Clk) with homology to mitogen-activated protein kinases (MAPKs). [provided by RefSeq, Jul 2008]., [RefSeq]; Serine/threonine kinase involved in spliceosomal assembly as well as mitosis and signaling regulation (PubMed:10799319, PubMed:12077342, PubMed:17513757, PubMed:17998396). Connects chromatin mediated regulation of transcription and pre-mRNA splicing (PubMed:12077342). During spliceosomal assembly, interacts with and phosphorylates PRPF6 and PRPF31, components of the U4/U6-U5 tri-small nuclear ribonucleoprotein (snRNP), to facilitate the formation of the spliceosome B complex. Plays a role in regulating transcription and the spindle assembly checkpoint (SAC) (PubMed:20118938). Associates with U5 snRNP and NCOR1 deacetylase complexes which may allow a coordination of pre-mRNA splicing with chromatin remodeling events involved in transcriptional regulation (PubMed:12077342). Associates and probably phosphorylates SMARCA4 and NCOR1 (PubMed:12077342). Phosphorylates SRSF1 (PubMed:11418604). Associates with kinetochores during mitosis and is necessary for recruitment and maintenance of the checkpoint proteins such as MAD1L1 and MAD12L1 at the kinetochores (PubMed:17998396). Phosphorylates and regulates the activity of the transcription factors such as ELK1 and KLF13 (PubMed:10799319, PubMed:17513757). Phosphorylates nuclear YAP1 and WWTR1/TAZ which induces nuclear exclusion and regulates Hippo signaling pathway, involved in tissue growth control (PubMed:29695716)., [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": 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": 61, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 21, "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": "A8K5C9;Q5D0F6;Q5TAY8;Q8IVC3;Q8TDP2;Q96QT7;Q9UEE6", "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": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "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": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "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": "3.1.13.-", "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": "2.3.1.-", "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": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "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:0003723 RNA binding;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:0016607 nuclear speck;GO:0000776 kinetochore;GO:0071013 catalytic step 2 spliceosome", "go_biological_process": "GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0046827 positive regulation of protein export from nucleus;GO:0090266 regulation of mitotic cell cycle spindle assembly checkpoint;GO:0000387 spliceosomal snRNP assembly;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 18.0, "record_id": "Q13523-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CG20-1", "uniprot_id": [ { "id": "PRR35_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CG20", "type": "external" } ], "mass": 59354.0, "length": 571, "protein_name": "Proline-rich protein 35", "gene_name": "PRR35", "organism": "Human", "refseq_name": "proline-rich protein 35", "refseq_ac": [ { "id": "NP_660313", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660313", "type": "external" } ], "gene_names_uniprotkb": "PRR35; C16orf11", "gene_names_refseq": "C16orf11; LA16c-366D1.2; PRR35", "protein_names_uniprotkb": "Proline-rich protein 35; Uncharacterized protein RJD1", "protein_names_refseq": "proline-rich protein 35", "tax_id": 9606, "disease": "", "pathway": " (hsa:146325)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "23481700;29557506;34509645;35051231;39894887", "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": 0, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "B8ZZ27;Q8N233;Q96AX3;Q96S23", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P0CG20-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50749-1", "uniprot_id": [ { "id": "RASF2_HUMAN", "url": "https://www.uniprot.org/uniprot/P50749", "type": "external" } ], "mass": 37790.0, "length": 326, "protein_name": "Ras association domain-containing protein 2", "gene_name": "RASSF2", "organism": "Human", "refseq_name": "ras association domain-containing protein 2", "refseq_ac": [ { "id": "NP_055552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055552", "type": "external" } ], "gene_names_uniprotkb": "RASSF2; CENP-34; KIAA0168", "gene_names_refseq": "CENP-34; RASFADIN; RASSF2", "protein_names_uniprotkb": "Ras association domain-containing protein 2", "protein_names_refseq": "Ras association (RalGDS/AF-6) domain family 2; Ras association (RalGDS/AF-6) domain family member 2; centromere protein 34; ras association domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9770)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "12732644;14978097;15569673;15806169;16012945;16959974;19525978;20166139;20813266;23481700;24715725;26154972;26375851;26992070;27600516;28832583;28904123;29493099;29557506;29632711;29786170;30315122;30429286;30524438;30833945;31154438;31844290;31848261;31998317;32157095;32357974;32502341;32983136;33051258;33717175;33912179;34171305;34357683;35051231;35561310;35580925;37938771;38036076;38493315", "class_list": "", "function": "Diagnostic Value of GSTP1, RASSF1, AND RASSF2 Methylation in Serum of Prostate Cancer Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Hyperhomocysteinemia may aggravate abdominal aortic aneurysm formation by up-regulating RASSF2., [RefSeq, PubMed]; In colonic neoplsms epigenetic (RASSF2A) and genetic (K-ras) changes are mutually exclusive and provide alternative pathways for affecting Ras signalling., [RefSeq, PubMed]; Potential tumor suppressor. Acts as a KRAS-specific effector protein. May promote apoptosis and cell cycle arrest. Stabilizes STK3/MST2 by protecting it from proteasomal degradation., [UniProtKB, PubMed, PubMed, PubMed]; RASSF effectors couple diverse RAS subfamily GTPases to the Hippo pathway. Publication Status: Online-Only, [RefSeq, PubMed]; RASSF2 is a new member of the RASSF1 family of Ras effectors/tumor suppressors that exhibits a specificity for interacting with K-Ras, [RefSeq, PubMed]; This gene encodes a protein that contains a Ras association domain. Similar to its cattle and sheep counterparts, this gene is located near the prion gene. Two alternatively spliced transcripts encoding the same isoform 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": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NIX9;A8K5Z3;Q17S06;Q53HD0;Q6AHZ2;Q8IZA5", "ec_number_list": [], "go_molecular_function": "GO:0004672 protein kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000776 kinetochore", "go_biological_process": "GO:0007165 signal transduction;GO:0043065 positive regulation of apoptotic process;GO:0046330 positive regulation of JNK cascade;GO:0045860 positive regulation of protein kinase activity;GO:0050821 protein stabilization", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P50749-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96K76-1", "uniprot_id": [ { "id": "UBP47_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96K76", "type": "external" } ], "mass": 157311.0, "length": 1375, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 47", "gene_name": "USP47", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 47 isoform a", "refseq_ac": [ { "id": "NP_001269588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269588", "type": "external" } ], "gene_names_uniprotkb": "USP47", "gene_names_refseq": "TRFP; USP47", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 47; 3.4.19.12; Deubiquitinating enzyme 47; Ubiquitin thioesterase 47; Ubiquitin-specific-processing protease 47", "protein_names_refseq": "Trf (TATA binding protein-related factor)-proximal homolog; deubiquitinating enzyme 47; ubiquitin carboxyl-terminal hydrolase 47 isoform a; ubiquitin carboxyl-terminal hydrolase 47; ubiquitin thioesterase 47; ubiquitin thiolesterase 47; ubiquitin-specific-processing protease 47", "tax_id": 9606, "disease": "", "pathway": " (hsa:55031); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 144, "publication_id_list": "10.1101/2023.09.13.557529;10444327;10982817;11566882;11923872;12917689;12917691;14661020;14715245;15053880;15916963;16214042;16901786;16964243;16964248;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;18669648;19015242;19135894;19188362;19363159;19398555;19424180;19608861;19690332;19838211;19874889;19910467;19966869;20068231;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;22645359;23159851;23186163;23301498;23395819;23481700;23486064;23824326;23825189;23904609;24056413;24260525;24275569;24493797;24714562;24715725;24896179;25197364;25305019;25418920;25576301;25578727;25880248;25892735;26154972;26375851;26929215;26992070;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29351928;29393594;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30484775;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33537174;33592498;33691108;33912179;33968037;33981976;34087483;34171305;34211107;34561969;34932366;35051231;35251023;35580925;36010968;36241641;36284347;36581221;36749823;37001379;37740002;37788092;37938771;38104157;40914422;7578059", "class_list": "", "function": "Deubiquitinase USP47 attenuates virus-induced type I interferon signaling., [RefSeq, PubMed]; Structural and functional characterization of USP47 reveals a hot spot for inhibitor design. Publication Status: Online-Only, [RefSeq, PubMed]; The results of this study indicated that USP47 plays a crucial role in the control of axonal growth during neuronal development by antagonizing CHIP-mediated katanin-p60 degradation., [RefSeq, PubMed]; USP47 deubiquitylates Groucho/TLE to promote Wnt-beta-catenin signaling., [RefSeq, PubMed]; USP47 has a role in regulating DNA repair and maintaining genome integrity, [RefSeq, PubMed]; USP47 inhibits m6A-dependent c-Myc translation to maintain regulatory T cell metabolic and functional homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; USP47 stabilizes YBX1 to promote the progression of acute myeloid leukemia., [RefSeq, PubMed]; USP47, a novel beta-Trcp interactor, regulates cell growth and survival, potentially providing a novel target for anticancer therapies., [RefSeq, PubMed]; Ubiquitin-specific protease that specifically deubiquitinates monoubiquitinated DNA polymerase beta (POLB), stabilizing POLB thereby playing a role in base-excision repair (BER). Acts as a regulator of cell growth and genome integrity. May also indirectly regulate CDC25A expression at a transcriptional level., [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": 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": 3, "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": "B3KXF5;E9PM46;Q658U0;Q86Y73;Q8TEP6;Q9BWI0;Q9NWN1", "ec_number_list": [ { "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": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" } ], "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity;GO:0101005 deubiquitinase activity;GO:0071987 WD40-repeat domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0006284 base-excision repair;GO:0006974 DNA damage response;GO:0031647 regulation of protein stability", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "Q96K76-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96SQ5-1", "uniprot_id": [ { "id": "ZN587_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96SQ5", "type": "external" } ], "mass": 65622.0, "length": 575, "protein_name": "Zinc finger protein 587", "gene_name": "ZNF587", "organism": "Human", "refseq_name": "zinc finger protein 587 isoform 2", "refseq_ac": [ { "id": "NP_001191746", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191746", "type": "external" } ], "gene_names_uniprotkb": "ZNF587", "gene_names_refseq": "ZF6; ZNF587", "protein_names_uniprotkb": "Zinc finger protein 587", "protein_names_refseq": "zinc finger protein 587 isoform 2; zinc finger protein zfp6", "tax_id": 9606, "disease": "", "pathway": " (hsa:84914); (R-HSA-212436)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;18452278;19415658;2163759;25880248;26992070;28834231;28904123;29557506;30379171;32157095;32938616;32983136;33592498;33717175;33968037;34171305;34561969;34670480;35051231;35580925;36181243;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; MiRNA-4537 functions as a tumor suppressor in gastric cancer and increases the radiosensitivity of gastric cancer cells., [RefSeq, PubMed]; The long non-sacoding RNA TMEM147-AS1/miR-133b/ZNF587 axis regulates the Warburg effect and promotes prostatic carcinoma invasion and proliferation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A0AV72;G3V0H5;Q6ZMK8", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q96SQ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07021-1", "uniprot_id": [ { "id": "C1QBP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07021", "type": "external" } ], "mass": 31362.0, "length": 282, "protein_name": "Complement component 1 Q subcomponent-binding protein, mitochondrial", "gene_name": "C1QBP", "organism": "Human", "refseq_name": "complement component 1 Q subcomponent-binding protein, mitochondrial precursor", "refseq_ac": [ { "id": "NP_001203", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001203", "type": "external" } ], "gene_names_uniprotkb": "C1QBP; GC1QBP; HABP1; SF2P32", "gene_names_refseq": "C1QBP; COXPD33; GC1QBP; HABP1; SF2AP32; SF2p32; gC1Q-R; gC1qR; p32", "protein_names_uniprotkb": "Complement component 1 Q subcomponent-binding protein, mitochondrial; ASF/SF2-associated protein p32; C1qBP; Glycoprotein gC1qBP; Hyaluronan-binding protein 1; Mitochondrial matrix protein p32; SF2AP32; gC1q-R protein; p33", "protein_names_refseq": "ASF/SF2-associated protein p32; C1q globular domain-binding protein; complement component 1 Q subcomponent-binding protein, mitochondrial precursor; complement component 1 Q subcomponent-binding protein, mitochondrial; complement component 1, q subcomponent binding protein; glycoprotein gC1qBP; hyaluronan-binding protein 1; mitochondrial matrix protein p32; p33; splicing factor SF2-associated protein", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 33 (Disease Ontology:DOID:0111495)", "pathway": " (hsa:708); (R-HSA-111471); (R-HSA-8980692); (R-HSA-9013106); (R-HSA-9645722); (R-HSA-9855719); (R-HSA-9970672)", "pathway_count": 7, "publication_count": 314, "publication_id_list": "10.1101/2023.09.13.557529;10022843;10037681;10097078;10232922;10479529;10490598;10523665;10523675;10526156;10579713;10619026;1066663;10699171;10722602;10747014;10823864;10873388;11058585;11085924;11086025;11204562;11207612;11237011;11278463;11373293;11396949;11431473;11432776;11493647;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11830581;11859136;11884391;11912491;11986212;12034482;12071859;12093360;12195014;12221077;12221096;12411480;12531887;12574814;12650940;12833064;12857875;12877655;12944405;14512443;14691562;15023524;15031724;15064355;15107133;15243141;15302923;15342493;15485661;15601624;15611138;15850391;15866170;16112081;16116428;16140380;16177118;16184169;16217026;16467373;16519628;16537587;16630611;16721827;16776779;16777452;16777849;16862148;16896804;16914516;17077126;17486078;17562871;17693683;17702745;17765681;17804252;17881511;17932950;17942708;17976533;18070599;18158243;18191643;18218625;18292551;1830244;18538737;18669648;18676636;18829452;19004836;19164550;19494238;19605563;19608861;19635168;19673492;19690332;19713215;20030946;20068231;20101212;20105447;20400958;20591975;20628200;20660154;20810993;20950273;21148482;21304106;21351730;21454492;21536856;21544310;21565175;21576392;21683246;21699497;21740066;21757538;21865595;21936715;22096251;22238231;22298643;22305756;22673745;22700724;22790947;22911862;22992742;23186163;23200924;23255595;23434736;23481700;23572525;23870313;24086303;24128008;24259668;24275569;24335996;24352656;24715725;24933155;25211221;25425145;25502872;25576301;25704760;2578463;2579948;25810538;26154972;26371245;26375851;26529257;26887924;26992070;27145964;27216196;27481945;27600516;27846572;27862975;27920218;27986909;28112683;28196833;28228285;28446606;28510447;28514659;28584191;28832583;28834231;28904123;28942965;29146911;29242379;29314611;29508533;29519898;29557506;29786170;29789417;30315122;30779550;30833945;3099750;31105010;31154438;31217245;31353207;31530632;31844290;31848261;31871319;31937595;31998317;32119511;32157095;32161166;32203420;32350084;32357974;32502341;32938616;32958672;32983136;33141586;33298915;33465208;33592498;33717175;33912179;33936100;33968037;34171305;34211107;34229054;34357683;34725712;3484703;34932366;35051231;35083852;35251023;35580925;36215666;36241641;36705413;37198654;37217939;3756141;38395904;38473963;3877053;3886654;39019044;4054110;40596516;40914422;4178758;4703226;500690;6203908;6604055;7391081;7479768;7673236;7721814;7753201;8021274;8195709;8262387;8537347;8543060;8567680;8571126;8617235;8643598;8649427;8662673;8662891;8710908;874082;8756646;8769096;8807639;8810315;8816443;8900153;8939998;9013646;9111050;9113980;9191880;9233640;9299613;9305890;9305894;9418861;9427705;9461517;9490638;9497316;9535835;9548756;9659915;9670022;9792683;9822605;9829970", "class_list": "", "function": "(Microbial infection) In infection processes acts as an attachment site for microbial proteins, including Listeria monocytogenes internalin B (InlB) and Staphylococcus aureus protein A., [UniProtKB, PubMed, PubMed, PubMed]; (Microbial infection) Involved in HIV-1 replication, presumably by contributing to splicing of viral RNA., [UniProtKB, PubMed]; (Microbial infection) Involved in replication of Rubella virus., [UniProtKB, PubMed]; Complement component C1q initiates extrinsic coagulation via the receptor for the globular head of C1q in adventitial fibroblasts and vascular smooth muscle cells., [RefSeq, PubMed]; Genetic and pharmacologic p32-inhibition rescue CHCHD2-linked Parkinson's disease phenotypes in vivo and in cell models. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibition of Multifunctional Protein p32/C1QBP Promotes Cytostatic Effects in Colon Cancer Cells by Altering Mitogenic Signaling Pathways and Promoting Mitochondrial Damage. Publication Status: Online-Only, [RefSeq, PubMed]; Multifunctional and multicompartmental protein involved in inflammation and infection processes, ribosome biogenesis, protein synthesis in mitochondria, regulation of apoptosis, transcriptional regulation and pre-mRNA splicing (PubMed:10022843, PubMed:10479529, PubMed:10722602, PubMed:11086025, PubMed:11859136, PubMed:15243141, PubMed:16140380, PubMed:16177118, PubMed:17881511, PubMed:18676636, PubMed:19004836, PubMed:19164550, PubMed:20810993, PubMed:21536856, PubMed:21544310, PubMed:22700724, PubMed:28942965, PubMed:8662673, PubMed:8710908, PubMed:9461517). At the cell surface is thought to act as an endothelial receptor for plasma proteins of the complement and kallikrein-kinin cascades (PubMed:10479529, PubMed:11859136, PubMed:8662673, PubMed:8710908). Putative receptor for C1q; specifically binds to the globular 'heads' of C1q thus inhibiting C1; may perform the receptor function through a complex with C1qR/CD93 (PubMed:20810993, PubMed:8195709). In complex with cytokeratin-1/KRT1 is a high affinity receptor for kininogen-1/HMWK (PubMed:21544310). Can also bind other plasma proteins, such as coagulation factor XII leading to its autoactivation. May function to bind initially fluid kininogen-1 to the cell membrane. The secreted form may enhance both extrinsic and intrinsic coagulation pathways. It is postulated that the cell surface form requires docking with transmembrane proteins for downstream signaling which might be specific for a cell-type or response. By acting as C1q receptor is involved in chemotaxis of immature dendritic cells and neutrophils and is proposed to signal through CD209/DC-SIGN on immature dendritic cells, through integrin alpha-4/beta-1 during trophoblast invasion of the decidua, and through integrin beta-1 during endothelial cell adhesion and spreading (PubMed:16140380, PubMed:22700724, PubMed:9461517). Signaling involved in inhibition of innate immune response is implicating the PI3K-AKT/PKB pathway (PubMed:16177118). Required for protein synthesis in mitochondria (PubMed:28942965). In mitochondrial translation may be involved in formation of functional 55S mitoribosomes; the function seems to involve its RNA-binding activity (By similarity). Acts as a RNA modification reader, which specifically recognizes and binds mitochondrial RNAs modified by C5-methylcytosine (m5C) in response to stress, and promotes recruitment of the mitochondrial degradosome complex, leading to their degradation (PubMed:39019044). May be involved in the nucleolar ribosome maturation process; the function may involve the exchange of FBL for RRP1 in the association with pre-ribosome particles (By similarity). Involved in regulation of RNA splicing by inhibiting the RNA-binding capacity of SRSF1 and its phosphorylation (PubMed:10022843, PubMed:21536856). Is required for the nuclear translocation of splicing factor U2AF1L4 (By similarity). Involved in regulation of CDKN2A- and HRK-mediated apoptosis. Stabilizes mitochondrial CDKN2A isoform smARF (PubMed:17486078). May be involved in regulation of FOXC1 transcriptional activity and NFY/CCAAT-binding factor complex-mediated transcription (PubMed:15243141, PubMed:18676636). May play a role in antibacterial defense as it can bind to cell surface hyaluronan and inhibit Streptococcus pneumoniae hyaluronate lyase (PubMed:19004836). May be involved in modulation of the immune response; ligation by HCV core protein is resulting in suppression of interleukin-12 production in monocyte-derived dendritic cells (PubMed:11086025, PubMed:17881511). Involved in regulation of antiviral response by inhibiting RIGI- and IFIH1-mediated signaling pathways probably involving its association with MAVS after viral infection (PubMed:19164550). Acts as a regulator of DNA repair via homologous recombination by inhibiting the activity of MRE11: interacts with unphosphorylated MRE11 and RAD50 in absence of DNA damage, preventing formation and activity of the MRN complex. Following DNA damage, dissociates from phosphorylated MRE11, allowing formation of the MRN complex (PubMed:31353207)., [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, PubMed]; The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding 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": 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": 1, "reported_glycation": 0, "reported_snv": 5, "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": "Q2HXR8;Q9NNY8", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0004857 enzyme inhibitor activity;GO:0003714 transcription corepressor activity;GO:0005080 protein kinase C binding;GO:0008134 transcription factor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005730 nucleolus", "go_biological_process": "GO:2000042 negative regulation of double-strand break repair via homologous recombination;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006397 mRNA processing;GO:0006955 immune response", "synthesized_glycan_count": 0, "hit_score": 31.9, "record_id": "Q07021-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51531-1", "uniprot_id": [ { "id": "SMCA2_HUMAN", "url": "https://www.uniprot.org/uniprot/P51531", "type": "external" } ], "mass": 181279.0, "length": 1590, "protein_name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2", "gene_name": "SMARCA2", "organism": "Human", "refseq_name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 isoform a", "refseq_ac": [ { "id": "NP_001276325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276325", "type": "external" } ], "gene_names_uniprotkb": "SMARCA2; BAF190B; BRM; SNF2A; SNF2L2", "gene_names_refseq": "BAF190; BIS; BRM; NCBRS; SAMRCA2; SMARCA2; SNF2L2; SNF2LA; SNF2; SWI2; Sth1p; hBRM; hSNF2a", "protein_names_uniprotkb": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2; 3.6.4.-; BAF190B; BRG1-associated factor 190B; Probable global transcription activator SNF2L2; Protein brahma homolog; SAMRCA2; SNF2-alpha; hBRM", "protein_names_refseq": "ATP-dependent helicase SMARCA2; BAF190B; BRG1-associated factor 190B; SNF2-alpha; SNF2/SWI2-like protein 2; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a2; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 isoform a; brahma homolog; global transcription activator homologous sequence; probable global transcription activator SNF2L2; protein brahma homolog; putative global transcription activator SNF2L2; sucrose nonfermenting 2-like protein 2", "tax_id": 9606, "disease": "opportunistic bacterial infectious disease (Disease Ontology:DOID:0050340); Nicolaides-Baraitser syndrome (Disease Ontology:DOID:0081441); blepharophimosis-impaired intellectual development syndrome (Disease Ontology:DOID:0081442); prostate cancer (Disease Ontology:DOID:10283); alcohol use disorder (Disease Ontology:DOID:1574); cancer (Disease Ontology:DOID:162); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:6595); (R-HSA-3214858); (R-HSA-8939243); (R-HSA-9824585); (R-HSA-9845323); (R-HSA-9933937); (R-HSA-9933939); (R-HSA-9933947); (R-HSA-9934037)", "pathway_count": 9, "publication_count": 198, "publication_id_list": "10.1101/2023.09.13.557529;10078207;10587587;11237011;11259672;11341840;11448779;11532965;11747826;11751582;11756452;11856727;11875071;11964381;12062444;12368262;1321344;15075294;15104674;15107404;15302935;1537333;1537334;15485929;15543135;15640446;15695812;15729346;15985610;16265664;16303920;16917507;17081983;17182843;17215844;17498659;17525332;17640523;17898714;17952075;18079182;18318008;18404153;18452278;18483556;18669648;18695000;18697795;18765789;18809673;18812475;19234465;19363039;19389701;19608861;19651622;19690332;19691289;19717472;20068231;20111005;20460684;20506188;20951943;21316606;21555454;21774791;22231400;22325351;22366787;22424782;22426308;22464331;22952240;23186163;23481700;23644491;23785148;23906836;24190977;24267888;24275569;24366607;24714562;24715725;25418920;25469497;25576301;25593309;25645385;25810538;25880248;25892735;26030138;26154972;26365797;26375851;26601204;26694611;26758079;26811146;26992070;27665729;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28533407;28832583;28904123;29242379;29331515;29374058;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30339381;30429286;30484775;30515787;30524438;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32694869;32897882;32938616;32983136;33100333;33123756;33141586;33298915;33392160;33537174;33592498;33633747;33717175;33912179;33936100;33968037;34087483;34171305;34185709;34211107;34357683;34405274;34433824;34465901;34509645;34561969;34932366;35051231;35318648;35580127;35580925;35811451;36010968;36215666;36241641;36284347;36464671;36581221;37634210;37938771;38253038;38359823;39570797;40914422;7813420;8208605;8223438;8306979;8804307;8921401;9642256;9758418", "class_list": "", "function": "ATPase involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically (PubMed:15075294, PubMed:22952240, PubMed:26601204). 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)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Clinicopathological and prognostic significance of SWI/SNF complex subunits in undifferentiated gastric carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of SMARCA2 and SMARCA4 in gastric adenocarcinoma and construction of a nomogram prognostic model., [RefSeq, PubMed]; Ten-year follow-up of Nicolaides-Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2-associated NCBRS., [RefSeq, PubMed]; The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [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": 1, "reported_o_glycosites": 1, "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": 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": 30, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 7, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B1ALG3;B1ALG4;D3DRH4;D3DRH5", "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": "2.1.1.320", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.320", "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": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "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": "1.14.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.18.1", "type": "external" }, { "id": "1.14.18.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.18.-", "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": "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": "2.3.2.27", "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": "2.7.11.1", "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" }, { "id": "2.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.37", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016514 SWI/SNF complex;GO:0071564 npBAF complex;GO:0071565 nBAF complex", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:2000819 regulation of nucleotide-excision repair;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 20.8, "record_id": "P51531-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13153-1", "uniprot_id": [ { "id": "PAK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13153", "type": "external" } ], "mass": 60647.0, "length": 545, "protein_name": "Serine/threonine-protein kinase PAK 1", "gene_name": "PAK1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase PAK 1 isoform 1", "refseq_ac": [ { "id": "NP_001122092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122092", "type": "external" } ], "gene_names_uniprotkb": "PAK1", "gene_names_refseq": "IDDMSSD; PAK1; PAKalpha; alpha-PAK; p65-PAK", "protein_names_uniprotkb": "Serine/threonine-protein kinase PAK 1; 2.7.11.1; Alpha-PAK; PAK-1; p21-activated kinase 1; p65-PAK", "protein_names_refseq": "p21 protein (Cdc42/Rac)-activated kinase 1; p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast); p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related); serine/threonine-protein kinase PAK 1 isoform 1; serine/threonine-protein kinase PAK 1", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); Alzheimer's disease (Disease Ontology:DOID:10652); breast cancer (Disease Ontology:DOID:1612); nephroblastoma (Disease Ontology:DOID:2154); brain ischemia (Disease Ontology:DOID:2316); transitional cell carcinoma (Disease Ontology:DOID:2671); ovarian carcinoma (Disease Ontology:DOID:4001); renal cell carcinoma (Disease Ontology:DOID:4450); schizophrenia (Disease Ontology:DOID:5419); intellectual developmental disorder with macrocephaly, seizures, and speech delay (MONDO:MONDO:0032568)", "pathway": " (hsa:5058); (R-HSA-202433); (R-HSA-2029482); (R-HSA-2871796); (R-HSA-389359); (R-HSA-3928662); (R-HSA-3928664); (R-HSA-399954); (R-HSA-428540); (R-HSA-445144); (R-HSA-445355); (R-HSA-5218920); (R-HSA-5621575); (R-HSA-5625740); (R-HSA-5627117); (R-HSA-5627123); (R-HSA-5687128); (R-HSA-8964616); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013406); (R-HSA-9013407); (R-HSA-9013409); (R-HSA-9013420); (R-HSA-9013423); (R-HSA-9013424)", "pathway_count": 27, "publication_count": 726, "publication_id_list": 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"class_list": "", "function": "Deubiquitination of CIB1 by USP14 promotes lenvatinib resistance via the PAK1-ERK1/2 axis in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Porocarcinomas with PAK1/2/3 fusions: a series of 12 cases., [RefSeq, PubMed]; Protein kinase involved in intracellular signaling pathways downstream of integrins and receptor-type kinases that plays an important role in cytoskeleton dynamics, in cell adhesion, migration, proliferation, apoptosis, mitosis, and in vesicle-mediated transport processes (PubMed:10551809, PubMed:11896197, PubMed:12876277, PubMed:14585966, PubMed:15611088, PubMed:17726028, PubMed:17989089, PubMed:30290153, PubMed:17420447). Can directly phosphorylate BAD and protects cells against apoptosis (By similarity). Activated by interaction with CDC42 and RAC1 (PubMed:8805275, PubMed:9528787). Functions as a GTPase effector that links the Rho-related GTPases CDC42 and RAC1 to the JNK MAP kinase pathway (PubMed:8805275, PubMed:9528787). Phosphorylates and activates MAP2K1, and thereby mediates activation of downstream MAP kinases (By similarity). Involved in the reorganization of the actin cytoskeleton, actin stress fibers and of focal adhesion complexes (PubMed:9032240, PubMed:9395435). Phosphorylates the tubulin chaperone TBCB and thereby plays a role in the regulation of microtubule biogenesis and organization of the tubulin cytoskeleton (PubMed:15831477). Plays a role in the regulation of insulin secretion in response to elevated glucose levels (PubMed:22669945). Part of a ternary complex that contains PAK1, DVL1 and MUSK that is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ) (By similarity). Activity is inhibited in cells undergoing apoptosis, potentially due to binding of CDC2L1 and CDC2L2 (PubMed:12624090). Phosphorylates MYL9/MLC2 (By similarity). Phosphorylates RAF1 at 'Ser-338' and 'Ser-339' resulting in: activation of RAF1, stimulation of RAF1 translocation to mitochondria, phosphorylation of BAD by RAF1, and RAF1 binding to BCL2 (PubMed:11733498). Phosphorylates SNAI1 at 'Ser-246' promoting its transcriptional repressor activity by increasing its accumulation in the nucleus (PubMed:15833848). In podocytes, promotes NR3C2 nuclear localization (By similarity). Required for atypical chemokine receptor ACKR2-induced phosphorylation of LIMK1 and cofilin (CFL1) and for the up-regulation of ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation (PubMed:23633677). In synapses, seems to mediate the regulation of F-actin cluster formation performed by SHANK3, maybe through CFL1 phosphorylation and inactivation (By similarity). Plays a role in RUFY3-mediated facilitating gastric cancer cells migration and invasion (PubMed:25766321). In response to DNA damage, phosphorylates MORC2 which activates its ATPase activity and facilitates chromatin remodeling (PubMed:23260667). In neurons, plays a crucial role in regulating GABA(A) receptor synaptic stability and hence GABAergic inhibitory synaptic transmission through its role in F-actin stabilization (By similarity). In hippocampal neurons, necessary for the formation of dendritic spines and excitatory synapses; this function is dependent on kinase activity and may be exerted by the regulation of actomyosin contractility through the phosphorylation of myosin II regulatory light chain (MLC) (By similarity). Along with GIT1, positively regulates microtubule nucleation during interphase (PubMed:27012601). Phosphorylates FXR1, promoting its localization to stress granules and activity (PubMed:20417602). Phosphorylates ILK on 'Thr-173' and 'Ser-246', promoting nuclear export of ILK (PubMed:17420447)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Targetable leukaemia dependency on noncanonical PI3Kgamma signalling., [RefSeq, PubMed]; This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Mutations in this gene have been associated with macrocephaly, seizures, and speech delay. Overexpression of this gene is also reported in many cancer types, and particularly in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 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": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_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": 45, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O75561;Q13567;Q32M53;Q32M54;Q86W79", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "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": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "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": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.1.168", "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": "3.1.11.-", "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": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "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": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "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": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "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": "3.6.5.-", "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": "2.7.11.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.18", "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": "1.16.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.1.-", "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": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.13", "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:0042802 identical protein binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005884 actin filament", "go_biological_process": "GO:0061052 negative regulation of cell growth involved in cardiac muscle cell development;GO:0050770 regulation of axonogenesis;GO:0060244 negative regulation of cell proliferation involved in contact inhibition;GO:1903608 protein localization to cytoplasmic stress granule;GO:0006338 chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 72.8, "record_id": "Q13153-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08133-1", "uniprot_id": [ { "id": "ANXA6_HUMAN", "url": "https://www.uniprot.org/uniprot/P08133", "type": "external" } ], "mass": 75873.0, "length": 673, "protein_name": "Annexin A6", "gene_name": "ANXA6", "organism": "Human", "refseq_name": "annexin A6 isoform 1", "refseq_ac": [ { "id": "NP_001146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001146", "type": "external" } ], "gene_names_uniprotkb": "ANXA6; ANX6", "gene_names_refseq": "ANX6; ANXA6; CBP68; CPB-II; p68; p70", "protein_names_uniprotkb": "Annexin A6; 67 kDa calelectrin; Annexin VI; Annexin-6; CPB-II; Calphobindin-II; Chromobindin-20; Lipocortin VI; Protein III; p68; p70", "protein_names_refseq": "67 kDa calelectrin; annexin A6 isoform 1; annexin VI (p68); annexin-6; calcium-binding protein p68; calelectrin; calphobindin II; chromobindin-20; lipocortin VI; testis secretory sperm-binding protein Li 198a", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:309); (R-HSA-445355)", "pathway_count": 2, "publication_count": 154, "publication_id_list": "10.1101/2023.09.13.557529;10991994;11237011;11242081;11457814;11532985;11889009;12048254;14506282;14627618;14654843;15242332;15377279;156362;15777939;17055381;17081065;18083107;18452278;18512783;18767875;18974361;1930128;19380584;19608861;19690332;20068231;2139657;22421042;22778174;23481700;23719902;23783831;23834404;24275569;24366607;24714562;24715725;24872348;2526655;2528541;25418920;25502872;25576301;25880248;25892735;26154972;26362469;26375851;26728094;26758079;26811146;26992070;27090790;27452731;2764880;27679490;27846572;27862975;27920218;28218747;28228285;28446606;28467828;28514659;28649982;28741090;28832583;28834231;28904123;29242379;29314611;29351928;29393594;29437277;29493099;29508533;29557506;29632711;2963335;29769354;29786170;29789417;30315122;30379171;30429286;30573663;30779550;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32162841;32350084;32357974;32488085;32502341;3258820;32870666;32938616;32983136;33043033;33091337;33141586;33214551;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34211107;34357683;34433824;34725712;34932366;35008409;35051231;35138101;35154160;35251023;35318648;35494241;35561310;35580925;36241641;36284347;36958013;37204294;37311953;3780718;37938771;38380783;38566133;38665916;40596516;40914422;7777579;8709144;8858389;9481611;9598563;9600334;9855623", "class_list": "", "function": "Annexin A6 mediates calcium-dependent exosome secretion during plasma membrane repair. Publication Status: Online-Only, [RefSeq, PubMed]; Annexin A6 mitigates neurological deficit in ischemia/reperfusion injury by promoting synaptic plasticity., [RefSeq, PubMed]; Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]., [RefSeq]; Annexin-A5 and annexin-A6 silencing prevents metastasis of breast cancer cells in zebrafish., [RefSeq, PubMed]; Comprehensive analysis the diagnosis, malignant progression and immune infiltrate of ANXA6 in prostate cancer. Erratum:[Genes Genomics. 2025 Dec;47(12):1383. doi: 10.1007/s13258-023-01425-2. PMID: 37450236], [RefSeq, PubMed]; May associate with CD21. May regulate the release of Ca(2+) from intracellular stores., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; SUMOylation of annexin A6 retards cell migration and tumor growth by suppressing RHOU/AKT1-involved EMT in 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": 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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "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": "B7Z8A7;D3DQH4;E9PGK1;Q6ZT79", "ec_number_list": [], "go_molecular_function": "GO:0005525 GTP binding;GO:0015276 ligand-gated monoatomic ion channel activity;GO:0042802 identical protein binding;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005886 plasma membrane;GO:0005925 focal adhesion", "go_biological_process": "GO:0006816 calcium ion transport;GO:0034220 monoatomic ion transmembrane transport;GO:0097190 apoptotic signaling pathway;GO:0051560 mitochondrial calcium ion homeostasis;GO:0051283 negative regulation of sequestering of calcium ion", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "P08133-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75843-1", "uniprot_id": [ { "id": "AP1G2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75843", "type": "external" } ], "mass": 87117.0, "length": 785, "protein_name": "AP-1 complex subunit gamma-like 2", "gene_name": "AP1G2", "organism": "Human", "refseq_name": "AP-1 complex subunit gamma-like 2 isoform 1", "refseq_ac": [ { "id": "NP_003908", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003908", "type": "external" } ], "gene_names_uniprotkb": "AP1G2", "gene_names_refseq": "AP1G2; G2AD", "protein_names_uniprotkb": "AP-1 complex subunit gamma-like 2; G2ad; Gamma2-adaptin", "protein_names_refseq": "AP-1 complex subunit gamma-like 2 isoform 1; AP-1 complex subunit gamma-like 2; adaptor related protein complex 1 gamma 2 subunit; clathrin-associated/assembly/adaptor protein, large, gamma-2; gamma2-adaptin", "tax_id": 9606, "disease": "", "pathway": " (hsa:8906); (R-HSA-432720)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10394364;10436028;11139587;11237011;11333915;11604418;11694590;11994746;14665628;16155256;16867982;17116749;17553870;19559397;19651769;20230749;20708039;21620353;23481700;24714562;24715725;25576301;26154972;26375851;26728094;26992070;27846572;27909244;27920218;28063628;28218747;28228285;28510447;28649982;28832583;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;31844290;32157095;32265295;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34211107;34509645;34932366;35051231;35318648;35580925;36010968;36215666;36284347;8374173;8524399;8670264;9733768;9762922", "class_list": "", "function": "(Microbial infection) Involved in MVB-assisted maturation of hepatitis B virus (HBV)., [UniProtKB, PubMed, PubMed]; Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface. [provided by RefSeq, Aug 2017]., [RefSeq]; Depletion of the gamma2 or mu1A (AP1M1) subunits of AP-1, but not of gamma1 (AP1G1), precludes Nef-mediated lysosomal degradation of CD4., [RefSeq, PubMed]; May function in protein sorting in late endosomes or multivesucular bodies (MVBs)., [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": 4, "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": "D3DS51;O75504", "ec_number_list": [], "go_molecular_function": "GO:0035615 clathrin adaptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005798 Golgi-associated vesicle;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport;GO:0006896 Golgi to vacuole transport;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "O75843-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z6G8-1", "uniprot_id": [ { "id": "ANS1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z6G8", "type": "external" } ], "mass": 138066.0, "length": 1248, "protein_name": "Ankyrin repeat and sterile alpha motif domain-containing protein 1B", "gene_name": "ANKS1B", "organism": "Human", "refseq_name": "ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform d", "refseq_ac": [ { "id": "NP_001190994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001190994", "type": "external" } ], "gene_names_uniprotkb": "ANKS1B", "gene_names_refseq": "AIDA-1; AIDA; ANKS1B; ANKS2; EB-1; EB1; cajalin-2", "protein_names_uniprotkb": "Ankyrin repeat and sterile alpha motif domain-containing protein 1B; AIDA-1; Amyloid-beta protein intracellular domain-associated protein 1; E2A-PBX1-associated protein; EB-1", "protein_names_refseq": "E2a-Pbx1-associated protein; amyloid-beta precursor protein intracellular domain associated protein 1; ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform d; cajalin 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:56899)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10490826;10931946;11237011;12415113;12700034;15004329;15347684;15862129;16769578;17875921;19666031;25576301;29393594;29557506;30379171;31154438;32157095;32938616;32983136;33556191;34087483;34781814;35051231;37597021;38759928", "class_list": "", "function": "AIDA-1/ANKS1B Binds to the SynGAP Family RasGAPs with High Affinity and Specificity., [RefSeq, PubMed]; AbetaPP and the AIDA-1 proteins interact in vitro, in living cells and, endogenously, in leukemia cell lines;AIDA-1 proteins are expressed at high levels in the brain, [RefSeq, PubMed]; Circular RNA circANKS1B acts as a sponge for miR-152-3p and promotes prostate cancer progression by upregulating TGF-alpha expression., [RefSeq, PubMed]; Evidence pertaining to leukemogenesis by the well-characterized E2A-fusion protein E2A-PBX1 is reviewed and its mechanistic implications are considered. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells., [UniProtKB, UniProtKB, UniProtKB]; Isoform 3 can regulate global protein synthesis by altering nucleolar numbers., [UniProtKB, PubMed, PubMed]; Isoform 4 may play a role as a modulator of APP processing. Overexpression can down-regulate APP processing., [UniProtKB]; Regulation of transforming growth factor-beta1 by circANKS1B/miR-515-5p affects the metastatic potential and cisplatin resistance in oral squamous cell carcinoma., [RefSeq, PubMed]; Replication stress causes delayed mitotic entry and chromosome 12 fragility at the ANKS1B large neuronal gene in human induced pluripotent stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; Site-specific translocation and evidence of postnatal origin of the t(1;19) fusion in childhood acute lymphoblastic leukemia, [RefSeq, PubMed]; The interaction between AbetaPP and AIDA-1 is regulated by alternative splicing of the AIDA-1 protein, [RefSeq, PubMed]; This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "reported_glycation": 0, "reported_snv": 38, "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": "A5PKY5;A7E259;A8K153;A8MSN4;B4DFP6;B4DH98;F8VPM3;F8VZR9;F8WC27;Q5XLJ0;Q6IVB5;Q6NUS4;Q7Z6G6;Q7Z6G7;Q8TAP3;Q9NRX7;Q9Y5K9", "ec_number_list": [], "go_molecular_function": "GO:0046875 ephrin receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005654 nucleoplasm;GO:0014069 postsynaptic density;GO:0043197 dendritic spine;GO:0015030 Cajal body", "go_biological_process": "GO:0048013 ephrin receptor signaling pathway;GO:1900383 regulation of synaptic plasticity by receptor localization to synapse", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q7Z6G8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6B7-1", "uniprot_id": [ { "id": "AP4B1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6B7", "type": "external" } ], "mass": 83260.0, "length": 739, "protein_name": "AP-4 complex subunit beta-1", "gene_name": "AP4B1", "organism": "Human", "refseq_name": "AP-4 complex subunit beta-1 isoform 1", "refseq_ac": [ { "id": "NP_001240781", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240781", "type": "external" } ], "gene_names_uniprotkb": "AP4B1", "gene_names_refseq": "AP4B1; BETA-4; CPSQ5; SPG47", "protein_names_uniprotkb": "AP-4 complex subunit beta-1; AP-4 adaptor complex subunit beta; Adaptor-related protein complex 4 subunit beta-1; Beta subunit of AP-4; Beta4-adaptin", "protein_names_refseq": "AP-4 adaptor complex subunit beta; AP-4 complex subunit beta-1 isoform 1; AP-4 complex subunit beta-1; adaptor related protein complex 4 beta 1 subunit; beta 4 subunit of AP-4; beta4-adaptin; spastic paraplegia 47", "tax_id": 9606, "disease": "hereditary spastic paraplegia 47 (Disease Ontology:DOID:0110799)", "pathway": " (hsa:10717); (R-HSA-432720); (R-HSA-432722)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "10066790;10394364;10436028;11139587;11237011;11333915;11590181;11604418;11694590;11994746;15102850;16155256;16867982;17116749;19559397;19651769;20230749;20708039;21620353;22472443;23481700;25418920;25892735;26154972;26542808;26756312;26929215;26992070;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29331515;29393594;29557506;29769354;29786170;30315122;30524438;31217245;31530632;31844290;32157095;32166732;32265295;32357974;32387766;32488085;32938616;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34509645;34932366;35051231;35580925;36010968;36122674;36215666;36241641;8374173;8524399;8670264;9733768", "class_list": "", "function": "AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range., [RefSeq, PubMed]; AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant., [RefSeq, PubMed]; Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found 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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "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": "B7Z4X3;Q59EJ4;Q96CL6", "ec_number_list": [], "go_molecular_function": "GO:0030276 clathrin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0031904 endosome lumen;GO:0032588 trans-Golgi network membrane;GO:0005802 trans-Golgi network;GO:0030131 clathrin adaptor complex", "go_biological_process": "GO:0061938 protein localization to somatodendritic compartment;GO:0006886 intracellular protein transport;GO:0006605 protein targeting;GO:0016192 vesicle-mediated transport;GO:0008104 intracellular protein localization", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q9Y6B7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53677-1", "uniprot_id": [ { "id": "AP3M2_HUMAN", "url": "https://www.uniprot.org/uniprot/P53677", "type": "external" } ], "mass": 46977.0, "length": 418, "protein_name": "AP-3 complex subunit mu-2", "gene_name": "AP3M2", "organism": "Human", "refseq_name": "AP-3 complex subunit mu-2", "refseq_ac": [ { "id": "NP_001127768", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127768", "type": "external" } ], "gene_names_uniprotkb": "AP3M2", "gene_names_refseq": "AP3M2; AP47B; CLA20; P47B", "protein_names_uniprotkb": "AP-3 complex subunit mu-2; Adaptor-related protein complex 3 subunit mu-2; Clathrin assembly protein assembly protein complex 3 mu-2 medium chain; Clathrin coat assembly protein AP47 homolog 2; Clathrin coat-associated protein AP47 homolog 2; Golgi adaptor AP-1 47 kDa protein homolog 2; HA1 47 kDa subunit homolog 2; Mu3B-adaptin; P47B", "protein_names_refseq": "AP-3 complex subunit mu-2; HA1 47 kDa subunit homolog 2; HA1 47kDA subunit homolog 2; adapter-related protein complex 3 mu-2 subunit; adapter-related protein complex 3 subunit mu-2; adaptor related protein complex 3 mu 2 subunit; clathrin assembly protein assembly protein complex 1 medium chain homolog 2; clathrin assembly protein assembly protein complex 3 mu-2 medium chain; clathrin coat assembly protein AP47 homolog 2; clathrin coat-associated protein AP47 homolog 2; clathrin-associated protein AP47 homolog 2; epididymis secretory sperm binding protein; golgi adaptor AP-1 47 kDA protein homolog 2; mu3B-adaptin", "tax_id": 9606, "disease": "", "pathway": " (hsa:10947)", "pathway_count": 1, "publication_count": 76, "publication_id_list": "11237011;17293072;19481122;20934997;22424782;22544926;23481700;24715725;25418920;25576301;25645385;25892735;26375851;26811146;26992070;27600516;27846572;27920218;28218747;28228285;28352266;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30524438;30779550;31092671;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34185709;34509645;34561969;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;7601449", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [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. 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]; Some AP3M2 mutations still remain candidates for unmapped disorders including epilepsy, febrile seizure, and other neuronal developmental disorders associated with functional abnormalities of GABAergic transmission GeneRIF: Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2RCR0;D3DSY2;Q7Z472", "ec_number_list": [], "go_molecular_function": "GO:0035615 clathrin adaptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005769 early endosome;GO:0005802 trans-Golgi network;GO:1904115 axon cytoplasm", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006897 endocytosis;GO:0008089 anterograde axonal transport;GO:0048490 anterograde synaptic vesicle transport;GO:0036465 synaptic vesicle recycling", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "P53677-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TER5-1", "uniprot_id": [ { "id": "ARH40_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TER5", "type": "external" } ], "mass": 164658.0, "length": 1519, "protein_name": "Rho guanine nucleotide exchange factor 40", "gene_name": "ARHGEF40", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 40 isoform 2", "refseq_ac": [ { "id": "NP_001265458", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265458", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF40; SOLO", "gene_names_refseq": "ARHGEF40; SOLO", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 40; Protein SOLO; Sabi; Scambio", "protein_names_refseq": "Rho guanine nucleotide exchange factor (GEF) 40; protein SOLO; rho guanine nucleotide exchange factor 40 isoform 2; sabi; scambio", "tax_id": 9606, "disease": "", "pathway": " (hsa:55701); (R-HSA-193648); (R-HSA-416482); (R-HSA-8980692); (R-HSA-9013106)", "pathway_count": 5, "publication_count": 226, "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;12515866;12531887;12650940;12857875;12877655;14512443;14673001;15023524;15064355;15107133;15302923;15342493;15470142;15485661;15601624;15611138;15699075;15749160;15850391;15866170;15951850;16112081;16116428;16143467;16184169;16212495;16217026;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16923326;16964243;17077126;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18374420;18577758;18669648;18829452;19212140;19369195;19413330;19494238;19605563;19635168;19651622;19664994;19664995;19673492;19713215;20030946;20101212;20400958;20591975;20628200;20660154;21148482;21351730;21406692;21454492;21565175;21576392;21699497;21757538;21865595;21936715;22096251;22298643;22305756;22661716;22673745;22790947;22911862;22992742;23186163;23200924;23255595;23434736;23572525;23870313;24086303;24128008;24259668;24275569;24335996;24352656;24933155;25211221;25414122;25425145;25576301;25704760;25795300;26371245;26529257;26823019;26887924;26992070;27072905;27145964;27216196;27481945;27846572;27862975;27986909;28112683;28196833;28584191;29146911;29557506;29672603;30007591;30429286;30929300;31105010;31844290;31871319;32157095;32203420;32276436;32387766;32488085;32938616;32983136;33298915;33392160;33968037;33981976;34087483;34427245;35051231;35580925;36000254;36010968;36284347;39838643;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", "class_list": "", "function": "ARHGEF40 promotes non-small cell lung cancer proliferation and invasion via the AKT-Wnt axis by binding to RhoA., [RefSeq, PubMed]; Acts as a guanine nucleotide exchange factor (GEF) for RHOA and RHOC (PubMed:15107133, PubMed:26823019). Promotes actin stress fiber formation, force-induced stress fiber reinforcement and organization of KRT8/KRT18 networks via activation of RHOA/ROCK signaling, which is mediated by N-terminus KRT18 binding (PubMed:26823019, PubMed:30929300). Regulates the formation or maintenance of properly elongated morphology of epithelial tubules, via mediation of the organization and orientation of KRT18 filaments (By similarity). Promotes RHOA-dependent, cell-cell contact mediated reorientation of endothelial cells and their actin stress fibers in response to mechanotransduction (PubMed:25795300). Positively regulates hemidesmosome formation via acting as a linker protein that anchors keratin filaments to hemidesmosomes (PubMed:29672603). Also required for JUP localization at cell-cell adhesion junctions (PubMed:26823019)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; High-Throughput Sequencing Identifies 3 Novel Susceptibility Genes for Hereditary Melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; Keratin binding domain is critical for Solo localization and its function in regulating mechanotransduction., [RefSeq, PubMed]; Solo mRNA is ubiquitously expressed but enriched in brain, and it undergoes extensive alternative splicing., [RefSeq, PubMed]; This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014]., [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": 11, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 24, "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": "A5PL07;Q9BWP5;Q9H7L6;Q9NTF9;Q9NW24", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0019898 extrinsic component of membrane", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 22.7, "record_id": "Q8TER5-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2X7-1", "uniprot_id": [ { "id": "GIT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2X7", "type": "external" } ], "mass": 84341.0, "length": 761, "protein_name": "ARF GTPase-activating protein GIT1", "gene_name": "GIT1", "organism": "Human", "refseq_name": "ARF GTPase-activating protein GIT1 isoform 1", "refseq_ac": [ { "id": "NP_001078923", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078923", "type": "external" } ], "gene_names_uniprotkb": "GIT1", "gene_names_refseq": "GIT1; p95-APP1", "protein_names_uniprotkb": "ARF GTPase-activating protein GIT1; ARF GAP GIT1; CAT-1; CAT1; Cool-associated and tyrosine-phosphorylated protein 1; G protein-coupled receptor kinase-interactor 1; GRK-interacting protein 1; p95-APP1", "protein_names_refseq": "ARF GAP GIT1; ARF GTPase-activating protein GIT1 isoform 1; ARF GTPase-activating protein GIT1; CAT-1; CAT1; G protein-coupled receptor kinase interacting ArfGAP 1; G protein-coupled receptor kinase-interactor 1; GRK-interacting protein 1; cool-associated and tyrosine-phosphorylated protein 1", "tax_id": 9606, "disease": "attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); Huntington's disease (Disease Ontology:DOID:12858)", "pathway": " (hsa:28964); (R-HSA-3928664); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013406); (R-HSA-9013409); (R-HSA-9013420); (R-HSA-9013423); (R-HSA-9013424); (R-HSA-9619229)", "pathway_count": 11, "publication_count": 392, "publication_id_list": "10.1101/2023.09.13.557529;10047984;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10699171;10699464;10724160;10847683;10873802;10896954;10938112;10958683;10967094;11007481;11058585;11085924;11145705;11149925;11185749;11237011;11306516;11373293;11396949;11431473;11432776;11459829;11557983;11584276;11606631;11672528;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11896197;11912491;11919634;11948177;11956649;11961559;11983165;12071859;12093360;12096337;12153727;12172552;12195014;12221096;12242347;12351724;12432077;12456725;12464619;12531887;12546821;12547822;12650940;12665586;12676796;12695502;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;14521508;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15169870;15182672;15260990;15302923;15302935;15304341;15339924;15342493;15350535;15485661;15507211;15542837;15546864;15556869;15579468;15592455;15601624;15611138;15710388;15728722;15800193;15814684;15850391;15858067;15897194;15923189;16002401;16081809;16083285;16112081;16116428;16184169;16217026;16243035;16243036;16473593;16492808;16497976;16507994;16519628;1660188;16630611;16636067;16702231;16714282;16762923;16777452;16777849;16825424;16862148;16896804;16914516;16968698;17016520;17060455;17064668;17077126;17081983;17145773;17158234;17196961;17214551;17244649;17269730;17287340;17310244;17322306;17355222;17389395;17504809;17583407;17599059;17698854;17702745;17765681;17804252;17932950;17976533;18006505;18045877;18056264;18088087;18191593;18218625;18249095;18318008;18347018;18363964;18396277;18426980;18452278;18510355;18653540;18662984;18669648;18697831;18767875;18786931;18835169;18838382;18929667;19041750;19064640;19258391;19269969;19273721;19413330;19415658;19494238;19534724;19605563;19651622;19673492;19690332;19713215;19915143;19934221;20058876;20068231;20166139;20400958;20460433;20547754;20679435;20810653;21148482;21151158;21378159;21406692;21454492;21508312;21542010;21565175;21613211;21685891;21730051;21865595;21989057;22004470;22096251;22298643;22302306;22339630;22407364;22461490;22475431;22571869;22608513;22734669;22893698;22970203;22971344;23029280;23108400;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23707487;23718289;23757206;23870057;23940355;24086303;24259668;24275569;24297911;24335996;24352656;24355937;24584464;24623723;24859002;24933155;24960694;24996924;25024229;25211221;25284783;25428919;25678704;25704760;25721503;25795300;25862245;25963737;26016997;26129894;26299518;26529257;26598554;26598620;26628301;26887924;26992070;27012601;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;28028151;28114311;28196833;28218747;28356423;28657654;28825699;28834231;28860633;29089502;29358323;29382922;29393594;29437277;29557506;29789417;30061681;30853411;31389670;31502302;31844290;31871319;32157095;32203420;32302585;32488085;32737221;33968037;33981976;34019948;34087483;34357683;35051231;35132862;35318302;35705054;36994687;40307207;40914422;41350704;7479768;7512369;7559638;7641687;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;9252344;9268338;9305890;9405671;9438849;9490638;9497316;9582072;9659915;9670022;9705280;9778532;9792683;9822598;9829970;9843499;9846874;9857026;9988689", "class_list": "", "function": "Cloning of human GIT1 cDNA, and demonstration of GIT1 interaction with PIX and paxillin proteins., [RefSeq, PubMed]; GIT1 functions in a motile, multi-molecular signaling complex that regulates membrane protrusions and cell migration., [RefSeq, PubMed]; GIT1 protects against breast cancer growth through negative regulation of Notch. Publication Status: Online-Only, [RefSeq, PubMed]; GTPase-activating protein for ADP ribosylation factor family members, including ARF1. Multidomain scaffold protein that interacts with numerous proteins and therefore participates in many cellular functions, including receptor internalization, focal adhesion remodeling, and signaling by both G protein-coupled receptors and tyrosine kinase receptors (By similarity). Through PAK1 activation, positively regulates microtubule nucleation during interphase (PubMed:27012601). Plays a role in the regulation of cytokinesis; for this function, may act in a pathway also involving ENTR1 and PTPN13 (PubMed:23108400). May promote cell motility both by regulating focal complex dynamics and by local activation of RAC1 (PubMed:10938112, PubMed:11896197). May act as scaffold for MAPK1/3 signal transduction in focal adhesions. Recruits MAPK1/3/ERK1/2 to focal adhesions after EGF stimulation via a Src-dependent pathway, hence stimulating cell migration (PubMed:15923189). Plays a role in brain development and function. Involved in the regulation of spine density and synaptic plasticity that is required for processes involved in learning (By similarity). Plays an important role in dendritic spine morphogenesis and synapse formation (PubMed:12695502, PubMed:15800193). In hippocampal neurons, recruits guanine nucleotide exchange factors (GEFs), such as ARHGEF7/beta-PIX, to the synaptic membrane. These in turn locally activate RAC1, which is an essential step for spine morphogenesis and synapse formation (PubMed:12695502). May contribute to the organization of presynaptic active zones through oligomerization and formation of a Piccolo/PCLO-based protein network, which includes ARHGEF7/beta-PIX and FAK1 (By similarity). In neurons, through its interaction with liprin-alpha family members, may be required for AMPA receptor (GRIA2/3) proper targeting to the cell membrane (By similarity). In complex with GABA(A) receptors and ARHGEF7, plays a crucial role in regulating GABA(A) receptor synaptic stability, maintaining GPHN/gephyrin scaffolds and hence GABAergic inhibitory synaptic transmission, by locally coordinating RAC1 and PAK1 downstream effector activity, leading to F-actin stabilization (PubMed:25284783). May also be important for RAC1 downstream signaling pathway through PAK3 and regulation of neuronal inhibitory transmission at presynaptic input (By similarity). Required for successful bone regeneration during fracture healing (By similarity). The function in intramembranous ossification may, at least partly, exerted by macrophages in which GIT1 is a key negative regulator of redox homeostasis, IL1B production, and glycolysis, acting through the ERK1/2/NRF2/NFE2L2 axis (By similarity). May play a role in angiogenesis during fracture healing (By similarity). In this process, may regulate activation of the canonical NF-kappa-B signal in bone mesenchymal stem cells by enhancing the interaction between NEMO and 'Lys-63'-ubiquitinated RIPK1/RIP1, eventually leading to enhanced production of VEGFA and others angiogenic factors (PubMed:31502302). Essential for VEGF signaling through the activation of phospholipase C-gamma and ERK1/2, hence may control endothelial cell proliferation and angiogenesis (PubMed:19273721)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Pan-cancer analysis of the oncogenic effects of G-protein-coupled receptor kinase-interacting protein-1 and validation on liver hepatocellular 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": 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": 41, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B4DGU9;B4DSV3;Q86SS0;Q9BRJ4", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0044305 calyx of Held;GO:0005768 endosome;GO:0005813 centrosome", "go_biological_process": "GO:2000646 positive regulation of receptor catabolic process;GO:0032013 negative regulation of ARF protein signal transduction;GO:0007626 locomotory behavior;GO:0032691 negative regulation of interleukin-1 beta production;GO:0071222 cellular response to lipopolysaccharide", "synthesized_glycan_count": 0, "hit_score": 40.1, "record_id": "Q9Y2X7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96P71-1", "uniprot_id": [ { "id": "NECA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96P71", "type": "external" } ], "mass": 44350.0, "length": 396, "protein_name": "N-terminal EF-hand calcium-binding protein 3", "gene_name": "NECAB3", "organism": "Human", "refseq_name": "N-terminal EF-hand calcium-binding protein 3 isoform 1", "refseq_ac": [ { "id": "NP_112508", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112508", "type": "external" } ], "gene_names_uniprotkb": "NECAB3; APBA2BP; NIP1; SYTIP2; XB51", "gene_names_refseq": "APBA2BP; EFCBP3; NECAB3; NIP1; STIP3; SYTIP2; XB51; dJ63M2.4; dJ63M2.5", "protein_names_uniprotkb": "N-terminal EF-hand calcium-binding protein 3; Amyloid-beta A4 protein-binding family A member 2-binding protein; Nek2-interacting protein 1; Neuronal calcium-binding protein 3; X11L-binding protein 51", "protein_names_refseq": "EF-hand calcium binding protein 3; N-terminal EF-hand calcium-binding protein 3 isoform 1; Nek2-interacting protein 1; X11L-binding protein 51; amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein; amyloid beta A4 protein-binding family A member 2-binding protein; neuronal calcium-binding protein 3; neuronal calcium-binding protein NECAB3; synaptotagmin interacting protein 2; synaptotagmin interacting protein STIP3", "tax_id": 9606, "disease": "", "pathway": " (hsa:63941)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10833507;11237011;12044471;12780348;14697346;25576301;25892735;26948053;26992070;27846572;27920218;28904123;29493099;29769354;30410026;30484775;31267263;31844290;31848261;32157095;32938616;33592498;33912179;33968037;34171305;35051231;35561310;36010968", "class_list": "", "function": "GNAS-AS1/miR-4319/NECAB3 axis promotes tumor progression of non-small cell lung cancer by altering macrophage polarization., [RefSeq, PubMed]; HXB51 isoforms regulate Abeta generation differently, either enhancing it by modifying the association of X11L with APP or suppressing it in an X11L-independent manner, [RefSeq, PubMed]; Inhibits the interaction of APBA2 with amyloid-beta precursor protein (APP), and hence allows formation of amyloid-beta. May enhance the activity of HIF1A and thus promote glycolysis under normoxic conditions; the function requires its ABM domain and may implicate the stabilization of the interaction between HIF1AN and APBA3., [UniProtKB, PubMed, PubMed]; Results suggest that NECAB3, a novel Mint3-binding protein, activates HIF-1 to promote normoxic glycolysis and tumorigenicity by forming a ternary complex with Mint3 and FIH-1. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene interacts with the amino-terminal domain of the neuron-specific X11-like protein (X11L), inhibits the association of X11L with amyloid precursor protein through a non-competitive mechanism, and abolishes the suppression of beta-amyloid production by X11L. This protein, together with X11L, may play an important role in the regulatory system of amyloid precursor protein metabolism and beta-amyloid generation. The protein is phosphorylated by NIMA-related expressed kinase 2, and localizes to the Golgi apparatus. 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": 0, "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": "A8K780;E1P5N2;Q5JWF5;Q5JWF6;Q5JWF7;Q86VV1;Q9H433;Q9H8G8;Q9HBW7;Q9HCQ9", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0009306 protein secretion;GO:0019538 protein metabolic process;GO:0042984 regulation of amyloid precursor protein biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q96P71-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14457-1", "uniprot_id": [ { "id": "BECN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14457", "type": "external" } ], "mass": 51896.0, "length": 450, "protein_name": "Beclin-1", "gene_name": "BECN1", "organism": "Human", "refseq_name": "beclin-1 isoform a", "refseq_ac": [ { "id": "NP_001300927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001300927", "type": "external" } ], "gene_names_uniprotkb": "BECN1; GT197", "gene_names_refseq": "ATG6; BECN1; VPS30; beclin1", "protein_names_uniprotkb": "Beclin-1; Coiled-coil myosin-like BCL2-interacting protein; Protein GT197", "protein_names_refseq": "ATG6 autophagy related 6 homolog; beclin 1 (coiled-coil, moesin-like BCL2-interacting protein); beclin 1, autophagy related; beclin-1 isoform a; beclin1-beta; beclin1-gamma; coiled-coil myosin-like BCL2-interacting protein; testis secretory sperm-binding protein Li 215e", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); polycystic kidney disease (Disease Ontology:DOID:0080322); Parkinsonism (Disease Ontology:DOID:0080855); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); anterior ischemic optic neuropathy (Disease Ontology:DOID:12010); Machado-Joseph disease (Disease Ontology:DOID:1440); depressive disorder (Disease Ontology:DOID:1596); breast cancer (Disease Ontology:DOID:1612); glaucoma (Disease Ontology:DOID:1686); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); glioblastoma (Disease Ontology:DOID:3068); ischemia (Disease Ontology:DOID:326); brain infarction (Disease Ontology:DOID:3454); middle cerebral artery infarction (Disease Ontology:DOID:3525); esophagus adenocarcinoma (Disease Ontology:DOID:4914); intrahepatic cholangiocarcinoma (Disease Ontology:DOID:4928); liver cirrhosis (Disease Ontology:DOID:5082); ureteral obstruction (Disease Ontology:DOID:5199); schizophrenia (Disease Ontology:DOID:5419); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); paraplegia (Disease Ontology:DOID:607); viral encephalitis (Disease Ontology:DOID:646); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783); peritonitis (Disease Ontology:DOID:8283); osteoarthritis (Disease Ontology:DOID:8398); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); diabetic retinopathy (Disease Ontology:DOID:8947); degenerative disc disease (Disease Ontology:DOID:90); Barrett's esophagus (Disease Ontology:DOID:9206); type 2 diabetes mellitus (Disease Ontology:DOID:9352); diabetic neuropathy (Disease Ontology:DOID:9743)", "pathway": " (hsa:8678); (R-HSA-1169408); (R-HSA-1632852); (R-HSA-5689880); (R-HSA-9679504); (R-HSA-9694676); (R-HSA-9705671); (R-HSA-983170); (R-HSA-9833110); (R-HSA-9920951)", "pathway_count": 10, "publication_count": 385, "publication_id_list": "10064069;10395800;10444327;10600378;10777614;10825291;10982397;10982817;11095724;11096062;11112487;11157743;11160214;11163199;11237011;11514579;11566882;11607032;11788588;11825910;11923872;12019269;12436109;12436110;12525615;12582176;12645939;12692549;12759408;12917689;12917691;14661020;14681859;14718384;14976261;15053880;15131269;15187094;15208624;15286279;15331731;15485925;15702989;15916963;15927284;16009940;16112642;16122702;16139798;16179260;16214042;16352599;16407192;16428300;16465444;16473882;16699525;16715065;16775314;16815975;16872604;16874027;16901786;16914094;16963840;16964248;17056546;17088086;17289916;17290220;17316621;17337444;17376915;17443180;17446862;17618624;17656363;17659302;17724469;17873522;17980597;17981138;18005679;18172164;18287095;18305167;18321988;18420935;18439900;18467330;18570871;18583345;18632802;18636086;18691976;18797192;18843052;19015242;19050071;19073728;19119025;19125153;19135894;19180116;19188362;19193869;19211835;19261456;19270696;19270716;19322194;19342655;19361863;19363159;19395874;19398555;19424180;19426129;19575639;19590496;19713971;19759141;19838211;19851281;19855179;19874889;19898463;19910467;20059746;20068231;20096447;20133869;20208530;20219937;20228808;20308324;20368735;2038058;20385878;20410276;20501646;20605430;20643123;20713597;20819940;20921139;21050182;21177865;21205641;21239494;21258367;21358617;21362556;21364619;21383122;21444671;21460621;21571647;21596315;21659512;21799305;21819378;21849505;21936852;21962518;22029577;22085928;22090124;22128162;22170151;22205736;22216260;22493499;22498477;22682742;22941947;23159851;23184933;23186163;23202584;23395819;23481700;23486064;23685627;23727157;23822101;23824326;23825189;23878393;23884233;23974797;24056413;24141421;24260525;24349490;24443581;24493797;2450918;24714562;24715725;24747438;24896179;24954904;24973451;25127057;25135833;25197364;25275521;25305019;25356873;25418920;25484072;25484083;25505266;25568151;25576301;25578727;25645385;25693418;25803737;25854864;25880248;25891078;26263979;26347139;26375851;26728094;26783301;26929215;26992070;27108190;27245989;27304906;27562068;27600516;27618775;27693506;27696537;27715386;27817185;27862975;27920218;27994061;28063628;28085066;28238651;28299793;28445460;28479384;28486006;28514659;28691313;28832583;28834231;28904123;29079782;29242379;29313410;29331515;29393594;29493099;29508533;29557506;29604308;29632046;29632711;29717115;29786170;30410026;30429286;30484775;30767700;30833945;31123703;31154438;31231549;31399521;31601785;31696776;31844290;31848261;31850239;31937766;31998317;32157095;32161166;32187724;32265295;32350084;32353859;32357974;32387766;32428392;32502341;32589897;32726803;32728199;32897882;32938616;32953130;32979938;32983136;33024073;33060197;33097660;33110251;33141586;33298915;33349665;33360543;33372174;33372854;33392160;33396605;33440148;33479219;33495715;33514628;33561998;33567255;33691108;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33963333;33968037;33981976;33989516;33990585;34021074;34054808;34084167;34087483;34110168;34131122;34166398;34171305;34239064;34290717;34341353;34357683;34375313;34400613;34439781;34452305;34471099;34502139;34509645;34597346;34870550;35051231;35102342;35580925;35643212;36010968;36102648;36192481;36215666;36241641;36271983;36284347;36310878;36410674;37051252;37776275;37938771;39078420;40914422;7490091;7559393;7578059;7628435;7642652;7876241;8342042;9525617;9605141;9765397", "class_list": "", "function": "(Microbial infection) Protects against infection by a neurovirulent strain of Sindbis virus., [UniProtKB, PubMed]; Beclin-1-C 35 kDa localized to mitochondria can promote apoptosis; it induces the mitochondrial translocation of BAX and the release of proapoptotic factors., [UniProtKB, PubMed, PubMed]; Evolutionarily conserved domain of Beclin 1 is essential for Vps34 interaction, autophagy function, and tumor suppressor function., [RefSeq, PubMed]; Plays a central role in autophagy (PubMed:18570871, PubMed:21358617, PubMed:23184933, PubMed:23974797, PubMed:25484083, PubMed:28445460, PubMed:37776275). Acts as a core subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abscission step in cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20208530, PubMed:20643123, PubMed:23974797, PubMed:26783301). Essential for the formation of PI3KC3-C2 but not PI3KC3-C1 PI3K complex forms. Involved in endocytosis (PubMed:25275521). May play a role in antiviral host defense., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TMEM9 activates Rab9-dependent alternative autophagy through interaction with Beclin1. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that regulates autophagy, a catabolic process of degradation induced by starvation. The encoded protein is a component of the phosphatidylinositol-3-kinase (PI3K) complex which mediates vesicle-trafficking processes. This protein is thought to play a role in multiple cellular processes, including tumorigenesis, neurodegeneration and apoptosis. 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": 3, "mined_n_glycosites": 0, "mined_o_glycosites": 3, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "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": 19, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 39, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R6N7;O75595;Q9UNA8", "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:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0030425 dendrite", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0036092 phosphatidylinositol-3-phosphate biosynthetic process;GO:0000045 autophagosome assembly;GO:0010288 response to lead ion;GO:0010506 regulation of autophagy", "synthesized_glycan_count": 0, "hit_score": 38.8, "record_id": "Q14457-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43615-1", "uniprot_id": [ { "id": "TIM44_HUMAN", "url": "https://www.uniprot.org/uniprot/O43615", "type": "external" } ], "mass": 51356.0, "length": 452, "protein_name": "Mitochondrial import inner membrane translocase subunit TIM44", "gene_name": "TIMM44", "organism": "Human", "refseq_name": "mitochondrial import inner membrane translocase subunit TIM44", "refseq_ac": [ { "id": "NP_006342", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006342", "type": "external" } ], "gene_names_uniprotkb": "TIMM44; MIMT44; TIM44", "gene_names_refseq": "TIM44; TIMM44", "protein_names_uniprotkb": "Mitochondrial import inner membrane translocase subunit TIM44", "protein_names_refseq": "mitochondrial import inner membrane translocase subunit TIM44; translocase of inner mitochondrial membrane 44 homolog", "tax_id": 9606, "disease": "proliferative diabetic retinopathy (Disease Ontology:DOID:13207); oncocytic carcinoma of the thyroid (Disease Ontology:DOID:8161); diabetic retinopathy (Disease Ontology:DOID:8947)", "pathway": " (hsa:10469); (R-HSA-1268020)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10339406;11237011;14726512;15254020;15644312;15683237;16185709;16849325;17510655;18084070;18174896;18678864;19409522;19453276;19767391;19962426;20593814;21406692;21750375;23041349;23186163;23481700;23597483;23811401;25315652;26697887;26992070;28832583;28834231;28904123;29242379;29632711;30192525;30315122;31154438;31844290;32350084;32901414;32938616;33167377;33298915;33465208;33691108;33912179;34357683;34725712;35051231;35251023;36438483;37147302;38467612;40596516;40914422", "class_list": "", "function": "A first-in-class TIMM44 blocker inhibits bladder cancer cell growth. Publication Status: Online-Only, [RefSeq, PubMed]; Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner (By similarity). Recruits mitochondrial HSP70 to drive protein translocation into the matrix using ATP as an energy source (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; HuR Promotes Ovarian Cancer Cell Proliferation by Regulating TIMM44 mRNA Stability., [RefSeq, PubMed]; TIMM44 is a potential therapeutic target of human glioma. Publication Status: Online-Only, [RefSeq, PubMed]; The mitochondrial protein TIMM44 is required for angiogenesis in vitro and in vivo. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a peripheral membrane protein associated with the mitochondrial inner membrane translocase, which functions in the import of proteins across the mitochondrial inner membrane and into the mitochondrial matrix. The encoded protein mediates binding of mitochondrial heat shock protein 70 to the translocase of inner mitochondrial membrane 23 (TIM23) complex. Expression of this gene is upregulated in kidney in a mouse model of diabetes. A mutation in this gene is associated with familial oncocytic thyroid carcinoma. [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": 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": 0, "reported_glycation": 0, "reported_snv": 13, "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": "A8K0R9;D6W664;Q8N193", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0051087 protein-folding chaperone binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0005744 TIM23 mitochondrial import inner membrane translocase complex", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006626 protein targeting to mitochondrion;GO:0030150 protein import into mitochondrial matrix", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "O43615-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43307-1", "uniprot_id": [ { "id": "ARHG9_HUMAN", "url": "https://www.uniprot.org/uniprot/O43307", "type": "external" } ], "mass": 60982.0, "length": 516, "protein_name": "Rho guanine nucleotide exchange factor 9", "gene_name": "ARHGEF9", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 9 isoform 2", "refseq_ac": [ { "id": "NP_001166950", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166950", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF9; ARHDH9; KIAA0424", "gene_names_refseq": "ARHGEF9; COLLYBISTIN; DEE8; EIEE8; HPEM-2; PEM-2; PEM2", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 9; Collybistin; PEM-2 homolog; Rac/Cdc42 guanine nucleotide exchange factor 9", "protein_names_refseq": "Cdc42 guanine nucleotide exchange factor (GEF) 9; PEM-2 homolog; hPEM-2 collybistin; rac/Cdc42 guanine nucleotide exchange factor 9; rho guanine nucleotide exchange factor 9 isoform 2; rho guanine nucleotide exchange factor 9", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 8 (Disease Ontology:DOID:0080215)", "pathway": " (hsa:23229); (R-HSA-193648); (R-HSA-416482); (R-HSA-9013148); (R-HSA-9013406); (R-HSA-977443)", "pathway_count": 6, "publication_count": 275, "publication_id_list": "10232922;10449790;10464238;10490598;10523665;10523675;10526156;10542332;10559246;10579713;10699171;10699464;10724160;10873802;10967094;11007481;11058585;11085924;11149925;11185749;11237011;11283606;11294240;11306516;11313914;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11727829;11742120;11756498;11756552;11773441;11804587;11804589;11804590;11884391;11912491;11948177;12071859;12093360;12096337;12097334;12101119;12123608;12172552;12195014;12221096;12242347;12351724;12432077;12433842;12456725;12464619;12515866;12531887;12547822;12650940;12773384;12857875;12860998;12877655;12907671;1315307;1321750;14506234;14512443;14673001;15023524;15024690;15064355;15107133;15133129;15147912;15157669;15215304;15260990;15302923;15304341;15342493;15470142;15485661;15546864;15601624;15611138;15699075;15728722;15749160;15850391;15897194;15951850;16112081;16116428;16184169;16212495;16217026;16519628;16630611;1664410;16714282;16777452;16777849;16862148;16896804;16923326;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17364682;17398006;17599059;17702745;17765681;17804252;17932950;17976533;18045877;18056264;18218625;18363964;18374420;18382465;18426980;1849271;18577758;18653540;18786931;18835169;18838382;18929667;19212140;19258391;19605563;19713215;19828786;19934221;20679435;21148482;21454492;21542010;21565175;21613211;21685891;21865595;21989057;22004470;22096251;22298643;22461490;22571869;22608513;22612257;22661716;22970203;23033978;23200924;23255595;23406282;23434736;23572525;23718289;24086303;24259668;24297911;24335996;24352656;24355937;24584464;2465923;24933155;24996924;25024229;25211221;25414122;25576301;25678704;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26375851;26529257;26598554;26887924;27072905;27096001;27145964;27216196;27481945;27555588;27798618;28028151;28196833;2847710;28825699;28860633;30007591;30061681;30429286;30853411;31844290;31871319;32157095;32203420;32387766;32938616;32939676;33592498;33600053;33912179;34087483;34171305;34509645;35051231;35169261;35638461;35947460;36010968;36284347;7479768;7512369;7673236;7721814;7753201;7937899;8021274;8264558;8382267;8391122;8537347;8617235;8632757;8643598;8649427;8662891;8670801;8719414;8719416;8756646;8769096;8798539;8805223;8810315;8816443;8994827;9013646;9113980;9268338;9305890;9308960;9405671;9438849;9490638;9497316;9520479;9659915;9670022;9796816;9829970;9843499;9846874;9857026", "class_list": "", "function": "ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration., [RefSeq, PubMed]; Acts as a guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters (By similarity)., [UniProtKB, PubMed, UniProtKB]; Acts as a guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females., [RefSeq, PubMed]; Here we identified residues critical for interaction with gephyrin in the linker region between the SH3 and the DH domains of collybistin., [RefSeq, PubMed]; Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor alpha2 subunit., [RefSeq, PubMed]; LncRNA-p21 suppresses cell proliferation and induces apoptosis in gastric cancer by sponging miR-514b-3p and up-regulating ARHGEF9 expression. Publication Status: Online-Only, [RefSeq, PubMed]; Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder., [RefSeq, PubMed]; The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. This brain-specific protein also acts as an adaptor protein for the recruitment of gephyrin and together these proteins facilitate receceptor recruitement in GABAnergic and glycinergic synapses. Defects in this gene are the cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy, as well as several other types of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [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": 1, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K1S8;B4DHC7;F8W7P8;Q5JSL6", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005829 cytosol;GO:0014069 postsynaptic density;GO:0099572 postsynaptic specialization;GO:0005737 cytoplasm", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0099150 regulation of postsynaptic specialization assembly", "synthesized_glycan_count": 0, "hit_score": 27.6, "record_id": "O43307-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UN19-1", "uniprot_id": [ { "id": "DAPP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UN19", "type": "external" } ], "mass": 32194.0, "length": 280, "protein_name": "Dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide", "gene_name": "DAPP1", "organism": "Human", "refseq_name": "dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide isoform 2", "refseq_ac": [ { "id": "NP_001293080", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293080", "type": "external" } ], "gene_names_uniprotkb": "DAPP1; BAM32; HSPC066", "gene_names_refseq": "BAM32; DAPP1", "protein_names_uniprotkb": "Dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide; B lymphocyte adapter protein Bam32; B-cell adapter molecule of 32 kDa; hDAPP1", "protein_names_refseq": "B-cell adapter molecule of 32 kDa; b lymphocyte adapter protein Bam32; dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide isoform 2; dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide; hDAPP1", "tax_id": 9606, "disease": "", "pathway": " (hsa:27071); (R-HSA-983695)", "pathway_count": 2, "publication_count": 140, "publication_id_list": "10051622;10432293;10498607;10556826;10648173;10706702;10770799;1081164;10880360;10983984;11042164;11071869;11226282;11237011;11449366;11606584;11901194;11909947;12181444;12453414;12456653;12573241;1372019;1374290;1375264;1376928;15161916;15187135;15247305;1550550;15509800;1599430;16849466;16906149;1702903;1705565;17224452;17389395;17452328;17486119;18006696;18025150;18052078;18187424;18326500;18420269;18596693;18818202;18843204;18995841;19206206;19249086;19372136;19901323;2011584;20192804;21408196;21469132;21822214;21930970;22180443;22210847;22645359;2303036;2304550;23481700;24366607;24714562;24715725;25418920;25576301;25880248;25892735;26024233;26992070;27846572;27862975;27920218;28063628;28218747;28228285;28467828;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29769354;30315122;30410026;30429286;30524438;31154438;31217245;31530632;31844290;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33633747;33717175;33912179;33936100;34357683;34561969;3500860;35051231;35318648;35580925;36581221;4589993;6335036;7524079;7528218;7538118;7592958;7687428;7687539;7688784;7691807;7927516;803528;8163536;8306975;8947047;9235916;9326643;9341187;9382888;9697839;9705962", "class_list": "", "function": "May act as a B-cell-associated adapter that regulates B-cell antigen receptor (BCR)-signaling downstream of PI3K., [UniProtKB, PubMed, UniProtKB, UniProtKB]; We propose a role for Bam32 in the signaling of MHC class I molecules in professional Ag-presenting DC for the regulation of CD8(+) T cell activation. Erratum:[J Immunol. 2011 Dec 15;187(12):6584], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "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": "Q8TCK5;Q9UHF2", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0043325 phosphatidylinositol-3,4-bisphosphate binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0006470 protein dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "Q9UN19-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51532-1", "uniprot_id": [ { "id": "SMCA4_HUMAN", "url": "https://www.uniprot.org/uniprot/P51532", "type": "external" } ], "mass": 184646.0, "length": 1647, "protein_name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4", "gene_name": "SMARCA4", "organism": "Human", "refseq_name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4 isoform B", "refseq_ac": [ { "id": "NP_001122316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122316", "type": "external" } ], "gene_names_uniprotkb": "SMARCA4; BAF190A; BRG1; SNF2B; SNF2L4", "gene_names_refseq": "BAF190A; BAF190; BRG1; CSS4; MRD16; OTSC12; RTPS2; SMARCA4; SNF2-beta; SNF2L4; SNF2LB; SNF2; SWI2; hSNF2b", "protein_names_uniprotkb": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4; 3.6.4.-; BAF190A; BRG1-associated factor 190A; Mitotic growth and transcription activator; Protein BRG-1; Protein brahma homolog 1; SMARCA4; SNF2-beta; Transcription activator BRG1", "protein_names_refseq": "ATP-dependent helicase SMARCA4; BRG1-associated factor 190A; BRM/SWI2-related gene 1; SNF2-like 4; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4 isoform B; brahma protein-like 1; global transcription activator homologous sequence; homeotic gene regulator; mitotic growth and transcription activator; nuclear protein GRB1; protein BRG-1; protein brahma homolog 1; sucrose nonfermenting-like 4; transcription activator BRG1", "tax_id": 9606, "disease": "opportunistic bacterial infectious disease (Disease Ontology:DOID:0050340); rhabdoid tumor predisposition syndrome 2 (Disease Ontology:DOID:0060997); Coffin-Siris syndrome 4 (Disease Ontology:DOID:0070046); Nicolaides-Baraitser syndrome (Disease Ontology:DOID:0081441); prostate cancer (Disease Ontology:DOID:10283); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); lung non-small cell carcinoma (Disease Ontology:DOID:3908); hepatocellular carcinoma (Disease Ontology:DOID:684); cocaine dependence (Disease Ontology:DOID:9975); otosclerosis 12 (MONDO:MONDO:0968980)", "pathway": " (hsa:6597); (R-HSA-1266695); (R-HSA-201722); (R-HSA-3214858); (R-HSA-3247509); (R-HSA-8939243); (R-HSA-9619665); (R-HSA-9764725); (R-HSA-9824585); (R-HSA-9845323); (R-HSA-9933937); (R-HSA-9933939); (R-HSA-9933946); (R-HSA-9933947); (R-HSA-9934037); (R-HSA-9976102)", "pathway_count": 16, "publication_count": 404, "publication_id_list": "10078207;10080941;10203854;10204490;10220111;10400691;10485845;10501844;10587587;10655587;10727776;10757804;10769018;10775268;10831834;10856243;11050151;11069618;11080158;11085541;11115854;11133365;11136974;11157804;11237011;11341840;11356866;11394999;11418668;11430795;11430802;11448779;11532957;11532965;11564764;11713476;11728342;11734543;11747826;11751582;11756452;11782409;11839798;11856727;11912130;11934263;11955446;11964381;11973335;11988739;12056842;12062444;12145339;12163411;12184921;12198163;12368262;12392711;12416996;12700765;12782656;12799134;12889071;12917342;1321344;14512514;14522948;14593182;14664827;14695187;15060161;15075294;15087120;15121853;15150276;15189448;15294866;15302935;15339660;15345777;15353558;15356632;1537333;1537334;15485929;15542832;15543135;15610069;15629448;15640446;15695336;15695812;15729346;15749844;15768032;15829968;15836632;15907797;15985610;16005293;16051670;16136673;16169192;16265664;16303920;16311519;16319321;16373334;16510874;16630820;16756492;16917507;16923174;16964243;1704008;17052462;17081983;17130829;17182843;17215844;17274598;17303166;17325040;17425782;17428831;17458864;17498659;17525332;17582821;17640523;17697703;17699610;17898714;17952075;17959798;18079182;18160704;18347063;18386774;18404153;18404694;18452278;18483556;18498752;18634568;18669648;18695000;18697795;18765789;18803322;18809673;18812475;19143832;19148484;19156870;19234465;19321787;19389701;19413330;19460168;19487454;19493659;19571879;19608861;19651622;19664995;19690332;19691289;19717472;19745155;1975954;19864382;19922439;20068231;20112406;20137775;20149798;20213556;20418909;20460684;20506188;20625412;20832498;20871592;20951943;21044070;21105711;21316606;21326363;21406692;21411665;21423190;21423191;21555454;21613327;21653862;21654818;21726809;21774791;22053691;22158034;22180461;22186018;22190459;22231400;22325351;22333914;22424782;22426308;22464331;22492709;22617422;22645359;22764250;22814607;22952240;22982193;23071114;2317865;23186163;23466526;23644491;23695165;23747866;23785148;23874858;24191038;24227709;24267888;24275569;24417533;24646194;24675079;24714562;24715725;24958902;25083560;25469497;25505266;25576301;25593309;25728771;25810538;25974668;26212009;26301565;26365797;26423937;26441514;26601204;26694611;26811146;26974155;26992070;27220739;27288457;27423467;27859941;27920218;28218747;28228285;28446606;28510447;28514659;28533407;28649782;28832583;28834231;28852375;28904123;29139090;29242379;29374058;29393594;29437277;29493099;29508533;29557506;29567837;29632046;29729076;29748249;29769354;29786170;30177679;30315122;30339381;30410026;30429286;30484775;30515787;30524438;30898548;31092671;31154438;31217245;31530632;31844290;31848261;31918398;31937595;31998317;32119511;32157095;32161166;32357974;32387766;32459350;32488085;32502341;32522876;32897882;32938616;32983136;33100333;33123756;33141586;33214551;33298915;33592498;33608512;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34185709;34211107;34229054;34465901;34509645;34561969;34725712;34932366;35008676;35051231;35138000;35138101;35154160;35251023;35289036;35292107;35318648;35561310;35580127;35580925;35851744;36010968;36215666;36241641;36284347;36581221;37399313;37938771;38359823;38665916;39534244;40596516;7489741;7514277;7719938;7813420;7925941;7935840;8128231;8138712;8208605;8232556;8266077;8306979;8349731;8619637;8627307;8647822;8662541;8702919;8709637;8756721;8757136;8804307;8842374;8921401;8955148;9118222;9233603;9398404;9418958;9482253;9488439;9490669;9553136;9590696;9642256;9705348;9715265;9748295;9751710;9758418;9819412;9843967;9858769", "class_list": "", "function": "ATPase involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:15075294, PubMed:29374058, PubMed:30339381, PubMed:32459350). Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating the calcium-dependent release of a repressor complex and the recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by SMARCA4-dependent recruitment of a phospho-RB1-HDAC repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves the release of HDAC1 and recruitment of CREBBP (By similarity). 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. SMARCA4/BAF190A may promote neural stem cell self-renewal/proliferation by enhancing Notch-dependent proliferative signals, while concurrently making the neural stem cell insensitive to SHH-dependent differentiating cues (By similarity). Acts as a corepressor of ZEB1 to regulate E-cadherin transcription and is required for induction of epithelial-mesenchymal transition (EMT) by ZEB1 (PubMed:20418909). Binds via DLX1 to enhancers located in the intergenic region between DLX5 and DLX6 and this binding is stabilized by the long non-coding RNA (lncRNA) Evf2 (By similarity). Binds to RNA in a promiscuous manner (By similarity). In brown adipose tissue, involved in the regulation of thermogenic genes expression (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; SMARCA4 is involved in cancer predisposition, [RefSeq, PubMed]; The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [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": 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": 26, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 231, "reported_interactions": 0, 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"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": "2.1.1.361", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.361", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "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:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016020 membrane", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:1902661 positive regulation of glucose mediated signaling pathway;GO:2000819 regulation of nucleotide-excision repair;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0003407 neural retina development", "synthesized_glycan_count": 0, "hit_score": 41.1, "record_id": "P51532-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15013-1", "uniprot_id": [ { "id": "ARHGA_HUMAN", "url": "https://www.uniprot.org/uniprot/O15013", "type": "external" } ], "mass": 151612.0, "length": 1369, "protein_name": "Rho guanine nucleotide exchange factor 10", "gene_name": "ARHGEF10", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 10 isoform 2", "refseq_ac": [ { "id": "NP_001295081", "url": 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"class_list": "", "function": "A novel RhoA-dependent signaling pathway under the control of ARHGEF10 has a pivotal role in the regulation of the cell division cycle. Publication Status: Online-Only, [RefSeq, PubMed]; A single nucleotide polymorphisms (SNPs) associated with higher delta-6 desaturase (D6D) activity within the Rho guanine nucleotide exchange factor 10 (ARHGEF10) gene is potentially altering plasma triglyceride levels., [RefSeq, PubMed]; Data support a role for ARHGEF10 in developmental myelination of peripheral nerves, [RefSeq, PubMed]; Gef10 is the third member of a Rho-specific GEF family with unusual protein architecture, [RefSeq, PubMed]; It was suggested that ARHGEF10 is involved in the regulation of Rab6A and Rab8A localization and invasion of breast carcinoma cells, in which Rab8 also acts via regulation of membrane trafficking. Review article, [RefSeq, PubMed]; May play a role in developmental myelination of peripheral nerves., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The functional single-nucleotide polymorphism of ARHGEF10 confers the susceptibility to atherothrombotic stroke. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]., [RefSeq]; This genome-wide scan of cleft lip triads identifies parent-of-origin interaction effects between ANK3 and maternal smoking, and between ARHGEF10 and alcohol consumption Publication Status: Online-Only, [RefSeq, PubMed]; Treatment of ARHGEF10-depleted cells with the inhibitor dasatinib reduced levels of phospho Src kinase and attenuated motility and invasion in vitro. Together, our data indicate that ARHGEF10 may function as a tumor suppressor in Pancreatic ductal adenocarcinoma (PDAC)., [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": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 26, "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": "O14665;Q2KHR8;Q68D55;Q8IWD9;Q8IY77", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity;GO:0019894 kinesin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0090307 mitotic spindle assembly;GO:0030036 actin cytoskeleton organization;GO:0051496 positive regulation of stress fiber assembly;GO:0035025 positive regulation of Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 37.6, "record_id": "O15013-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6H7-1", "uniprot_id": [ { "id": "ARFG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6H7", "type": "external" } ], "mass": 56720.0, "length": 521, "protein_name": "ADP-ribosylation factor GTPase-activating protein 2", "gene_name": "ARFGAP2", "organism": "Human", "refseq_name": "ADP-ribosylation factor GTPase-activating protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001229761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229761", "type": "external" } ], "gene_names_uniprotkb": "ARFGAP2; Nbla10535; ZNF289", "gene_names_refseq": "ARFGAP2; IRZ; NBLA10535; ZFP289; ZNF289", "protein_names_uniprotkb": "ADP-ribosylation factor GTPase-activating protein 2; ARF GAP 2; GTPase-activating protein ZNF289; Zinc finger protein 289", "protein_names_refseq": "ADP ribosylation factor GTPase activating protein 2; ADP-ribosylation factor GTPase-activating protein 2 isoform 2; GTPase-activating protein ZNF289; zinc finger protein 289, ID1 regulated", "tax_id": 9606, "disease": "", "pathway": " (hsa:84364); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-9013148)", "pathway_count": 4, "publication_count": 396, "publication_id_list": "10.1101/2023.09.13.557529;10052452;10232922;10318838;10445031;10464238;10490598;10523665;10523675;10526156;10559246;10559959;10579713;10679020;10699171;10699464;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;11696321;11703931;11704860;11726511;11739780;11748249;11756552;11773441;11804587;11804589;11804590;11884391;11912491;11948177;12047556;12070132;12071859;12093360;12096337;12172552;12195014;12221096;12351724;12388752;12432077;12464619;12531887;12547822;12634853;12650940;12773384;12857875;12860998;12877655;12880961;12907671;14504276;14506234;14512443;14654841;14690497;14742712;15023524;15029241;15037235;15064355;15107133;15133129;15147912;15157669;15260990;15272311;15302923;15304341;15342493;15485661;15601624;15611138;15616190;15632110;15728195;15728722;15813748;15850391;15878873;15897194;16030262;16112081;16116428;16184169;16217026;1631136;16519628;16571679;16630611;16633337;16714282;16723730;16777452;16777849;1680566;16862148;16896804;16912714;16926190;16940185;16968698;17064668;17077126;17081983;17113389;17145773;17196961;17214551;17244649;17253781;17274799;17360540;17429068;17451557;17599059;17702745;17760859;17765681;17804252;17927562;17932950;17956946;17976533;18045877;18056264;18086915;18182008;18212344;18218625;18283113;18287528;18363964;18426980;18452278;18524849;18653540;18669648;18691976;18786931;18809720;18835169;18838382;18929667;1898986;19015319;19109418;19151722;19164740;19296914;19299515;19369418;19413330;1957170;19605563;19631211;19651622;19664995;19690332;19758564;19934221;20005805;20068231;20136777;20166139;20230923;20357002;20427317;20462495;20534429;20637885;20679435;20858901;21148482;21219331;21406692;21454492;21542010;21550981;21565175;21613211;21685891;21689688;21844168;21865595;21989057;22004470;22013193;22094269;22096251;22298643;22304919;22375848;22461490;22571869;22608513;22970203;23186163;23200924;23255595;23396477;23406282;23434736;23481700;23572525;23718289;23839779;24086303;24119662;24259668;24275569;24335996;24352656;24366607;24584464;24714562;24715725;24806965;24933155;24996924;25024229;25211221;25364732;25418920;25436559;25492864;25576301;25704760;25721503;25795300;25862245;25892735;25963737;26129894;26299518;26375851;26529257;26598554;26887924;26992070;27096001;27145964;27216196;27481945;27555588;27600516;27798618;27846572;27862975;27920218;28028151;28196833;28218747;28649982;28825699;28832583;28834231;28860633;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30061681;30315122;30410026;30484775;30779550;30853411;31154438;31217245;31530632;31717259;31844290;31848261;31871319;32157095;32203420;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33392160;33633747;33717175;33912179;33936100;33968037;33981976;34171305;34561969;34932366;35051231;35154160;35251023;35561310;35580925;36010968;36284347;36581221;37938771;38253038;38665916;40596516;40914422;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;8991093;8994827;9013646;9113980;9114004;9150144;9177194;9244307;9268338;9288971;9305890;9323141;9380700;9382863;9405360;9405671;9438849;9490638;9490716;9497316;9659915;9670022;9671725;9751720;9829970;9843499;9846874;9990005", "class_list": "", "function": "ARFGAP2 and ARFGAP3 are essential for COPI coat assembly on the Golgi membrane of living cells., [RefSeq, PubMed]; Analysis of the distinct role of subcomplexes of the COPI coat in the regulation of ArfGAP2 activity, [RefSeq, PubMed]; ArfGAP1, ArfGAP2, and ArfGAP3 have overlapping roles in regulating COPI function in Golgi-to-ER retrograde transport., [RefSeq, PubMed]; Differential roles of ArfGAP1, ArfGAP2, and ArfGAP3 in COPI trafficking, [RefSeq, PubMed]; GTPase-activating protein (GAP) for ADP ribosylation factor 1 (ARF1). Implicated in coatomer-mediated protein transport between the Golgi complex and the endoplasmic reticulum. Hydrolysis of ARF1-bound GTP may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes., [UniProtKB, PubMed]; Human ARFGAP2 and ARFGAP3 are associated with COP-I-coated vesicles and function in COP I traffic, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 0, "reported_glycation": 0, "reported_snv": 16, "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": "B4DX29;B7Z9M7;D3DQQ9;Q3LIF2;Q8N3I1;Q96SX7", "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_biological_process": "GO:0048205 COPI coating of Golgi vesicle;GO:0015031 protein transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 40.1, "record_id": "Q8N6H7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28799-1", "uniprot_id": [ { "id": "GRN_HUMAN", "url": "https://www.uniprot.org/uniprot/P28799", "type": "external" } ], "mass": 63544.0, "length": 593, "protein_name": "Progranulin", "gene_name": "GRN", "organism": "Human", "refseq_name": "progranulin precursor", "refseq_ac": [ { "id": "NP_002078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002078", "type": "external" } ], "gene_names_uniprotkb": "GRN", "gene_names_refseq": "CLN11; FTD2; GEP; GP88; GRN; PCDGF; PEPI; PGRN", "protein_names_uniprotkb": "Progranulin; Acrogranin; Epithelin precursor; Epithelin-1; Epithelin-2; GP88; Glycoprotein 88; Glycoprotein of 88 Kda; Granulin A; Granulin B; Granulin C; Granulin D; Granulin E; Granulin F; Granulin G; Granulin precursor; PC cell-derived growth factor; PCDGF; PEPI; PGRN; Proepithelin", "protein_names_refseq": "PC cell-derived growth factor; acrogranin; glycoprotein 88; glycoprotein of 88 Kda; granulin-epithelin; granulins; proepithelin; progranulin precursor; progranulin", "tax_id": 9606, "disease": "primary progressive multiple sclerosis (Disease Ontology:DOID:0050784); frontotemporal dementia 2 (Disease Ontology:DOID:0060672); neuronal ceroid lipofuscinosis 11 (Disease Ontology:DOID:0110732); Alzheimer's disease (Disease Ontology:DOID:10652); nephrogenic diabetes insipidus (Disease Ontology:DOID:12387); autistic disorder (Disease Ontology:DOID:12849); dementia (Disease Ontology:DOID:1307); Parkinson's disease (Disease Ontology:DOID:14330); status epilepticus (Disease Ontology:DOID:1824); atherosclerosis (Disease Ontology:DOID:1936); multiple sclerosis (Disease Ontology:DOID:2377); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); bipolar disorder (Disease Ontology:DOID:3312); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); frontotemporal dementia (Disease Ontology:DOID:9255)", "pathway": " (hsa:2896); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 86, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10715107;11237011;12526812;1417868;1542665;1618805;16862116;16983685;18183624;18359860;18378771;18392865;19101631;19159218;19755719;20020531;20068231;20188224;20522652;21081667;21092856;21654843;22608501;22661428;2268320;23090970;23364791;23584533;23650620;24190977;25056957;25502872;25813380;26005049;26370502;27789271;27920218;28073925;28228285;28453791;28541286;28743268;28904123;29242379;29314611;29632711;29741879;29789417;30237853;30315122;30397120;30573663;31217245;31611695;31844290;32157095;32350084;32938616;32983136;33043033;33214551;33351065;33392160;33592498;33936100;34019948;34357683;35051231;35251023;36240223;37074911;38554213;38665916;38865340;39218796;39531497;39657353;40596516;40930100;8471426;8606061;8692836;8760827", "class_list": "", "function": "Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. [provided by RefSeq, Jul 2008]., [RefSeq]; Inhibits epithelial cell proliferation and induces epithelial cells to secrete IL-8., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Neurofilaments and progranulin are related to atrophy in frontotemporal lobar degeneration - A transdiagnostic study cross-validating atrophy and fluid biomarkers., [RefSeq, PubMed]; PGRN inhibits CD8[+]T cell recruitment and promotes breast cancer progression by up-regulating ICAM-1 on TAM. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes proliferation of the epithelial cell line A431 in culture., [UniProtKB]; Secreted protein that acts as a key regulator of lysosomal function and as a growth factor involved in inflammation, wound healing and cell proliferation (PubMed:12526812, PubMed:18378771, PubMed:28073925, PubMed:28453791, PubMed:28541286). Regulates protein trafficking to lysosomes, and also the activity of lysosomal enzymes (PubMed:28453791, PubMed:28541286). Also facilitates the acidification of lysosomes, causing degradation of mature CTSD by CTSB (PubMed:28073925). In addition, functions as a wound-related growth factor that acts directly on dermal fibroblasts and endothelial cells to promote division, migration and the formation of capillary-like tubule structures (By similarity). Also promotes epithelial cell proliferation by blocking TNF-mediated neutrophil activation preventing release of oxidants and proteases (PubMed:12526812). Moreover, modulates inflammation in neurons by preserving neurons survival, axonal outgrowth and neuronal integrity (PubMed:18378771)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Sortilin is associated with progranulin deficiency and autism-like behaviors in valproic acid-induced autism rats., [RefSeq, PubMed]; Stabilizes CTSD through interaction with CTSD leading to maintain its aspartic-type peptidase activity., [UniProtKB, PubMed, UniProtKB, UniProtKB]; This revealed a selective repression of progranulin translation and a reduction of mRNA levels by the 219-nucleotide-long 5' UTR., [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": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 31, "disease_count": 15, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "D3DX55;P23781;P23782;P23783;P23784;Q53HQ8;Q53Y88;Q540U8;Q9BWE7;Q9H8S1;Q9UCH0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0051087 protein-folding chaperone binding;GO:0005125 cytokine activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005768 endosome;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0048680 positive regulation of axon regeneration;GO:1903979 negative regulation of microglial cell activation;GO:1903334 positive regulation of protein folding;GO:0002265 astrocyte activation involved in immune response;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "P28799-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100010000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59780-1", "uniprot_id": [ { "id": "AP3S2_HUMAN", "url": "https://www.uniprot.org/uniprot/P59780", "type": "external" } ], "mass": 22017.0, "length": 193, "protein_name": "AP-3 complex subunit sigma-2", "gene_name": "AP3S2", "organism": "Human", "refseq_name": "AP-3 complex subunit sigma-2", "refseq_ac": [ { "id": "NP_005820", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005820", "type": "external" } ], "gene_names_uniprotkb": "AP3S2", "gene_names_refseq": "AP3S2; AP3S3; sigma3b", "protein_names_uniprotkb": "AP-3 complex subunit sigma-2; AP-3 complex subunit sigma-3B; Adaptor-related protein complex 3 subunit sigma-2; Sigma-3B-adaptin; Sigma-adaptin 3b; Sigma3B-adaptin", "protein_names_refseq": "AP-3 complex subunit sigma-2; AP-3 complex subunit sigma-3B; adapter-related protein complex 3 subunit sigma-2; adaptor complex sigma3B; adaptor related protein complex 3 sigma 2 subunit; clathrin-associated/assembly/adaptor protein, small 4, 22-kD; sigma-3B-adaptin; sigma-adaptin 3b", "tax_id": 9606, "disease": "", "pathway": " (hsa:10239)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;20966410;25418920;28832583;28834231;28904123;29242379;29557506;29789417;30315122;30429286;30779550;31844290;31848261;32157095;32357974;32488085;32502341;33141586;33936100;34171305;35051231;35580925;36010968;9118953", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [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. 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2R677;B4DGQ3;O09077;O09149;Q53H83;Q99589", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0030659 cytoplasmic vesicle membrane;GO:0030123 AP-3 adaptor complex;GO:1904115 axon cytoplasm", "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": 2.6, "record_id": "P59780-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P39687-1", "uniprot_id": [ { "id": "AN32A_HUMAN", "url": "https://www.uniprot.org/uniprot/P39687", "type": "external" } ], "mass": 28585.0, "length": 249, "protein_name": "Acidic leucine-rich nuclear phosphoprotein 32 family member A", "gene_name": "ANP32A", "organism": "Human", "refseq_name": "acidic leucine-rich nuclear phosphoprotein 32 family member A", "refseq_ac": [ { "id": "NP_006296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006296", "type": "external" } ], "gene_names_uniprotkb": "ANP32A; C15orf1; LANP; MAPM; PHAP1", "gene_names_refseq": "ANP32A; C15orf1; HPPCn; I1PP2A; LANP; MAPM; PHAP1; PHAPI; PP32", "protein_names_uniprotkb": "Acidic leucine-rich nuclear phosphoprotein 32 family member A; Acidic nuclear phosphoprotein pp32; LANP; Leucine-rich acidic nuclear protein; Mapmodulin; PHAPI; Potent heat-stable protein phosphatase 2A inhibitor I1PP2A; Putative HLA-DR-associated protein I; pp32", "protein_names_refseq": "acidic (leucine-rich) nuclear phosphoprotein 32 family, member A; acidic leucine-rich nuclear phosphoprotein 32 family member A; acidic nuclear phosphoprotein pp32; cerebellar leucine rich acidic nuclear protein; epididymis secretory sperm binding protein; hepatopoietin Cn; inhibitor-1 of protein phosphatase-2A; leucine-rich acidic nuclear protein; mapmodulin; potent heat-stable protein phosphatase 2A inhibitor I1PP2A; putative HLA-DR-associated protein I; putative human HLA class II associated protein I", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:8125); (R-HSA-450520)", "pathway_count": 2, "publication_count": 120, "publication_id_list": "10400610;11018049;11163245;11237011;11360199;11555662;11729309;11830591;11834731;12524539;12628186;14981256;15257295;15287743;15642345;15895553;16341127;16484227;16818237;17178712;17287340;17392515;17517897;17557114;17567741;18180367;18285462;18439902;18669648;19130553;19651622;20068231;20086103;20230923;21159877;22424782;23186163;23481700;24275569;24366607;24715725;25418920;25576301;25645385;26154972;26768311;26811146;27920218;28228285;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30666459;30779550;30833945;31154438;31217245;31844290;31937595;31998317;32157095;32265295;32357974;32387766;32488085;32502341;32694517;32897882;32938616;32983136;33043033;33045004;33141586;33208942;33298915;33329543;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34211107;34357683;34509645;34725712;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;36370958;36645303;36856210;37509196;37938771;38665916;39990658;40914422;40930100;8192856;8679524;8970164;9353121", "class_list": "", "function": "(Microbial infection) Plays an essential role in influenza A, B and C viral genome replication (PubMed:30666459, PubMed:32694517, PubMed:33045004, PubMed:33208942). Mechanistically, mediates the assembly of the viral replicase asymmetric dimers composed of PB1, PB2 and PA via its N-terminal region (PubMed:33208942). Also plays an essential role in foamy virus mRNA export from the nucleus (PubMed:21159877)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Avian Influenza A Virus Polymerase Can Utilize Human ANP32 Proteins To Support cRNA but Not vRNA Synthesis., [RefSeq, PubMed]; Glaucoma-Associated CDR1 Peptide Promotes RGC Survival in Retinal Explants through Molecular Interaction with Acidic Leucine Rich Nuclear Phosphoprotein 32A (ANP32A). Publication Status: Online-Only, [RefSeq, PubMed]; Hypoxia and Wnt signaling inversely regulate expression of chondroprotective molecule ANP32A in articular cartilage., [RefSeq, PubMed]; Multifunctional protein that is involved in the regulation of many processes including tumor suppression, apoptosis, cell cycle progression or transcription (PubMed:10400610, PubMed:11360199, PubMed:16341127, PubMed:18439902). Promotes apoptosis by favouring the activation of caspase-9/CASP9 and allowing apoptosome formation (PubMed:18439902). In addition, plays a role in the modulation of histone acetylation and transcription as part of the INHAT (inhibitor of histone acetyltransferases) complex. Inhibits the histone-acetyltransferase activity of EP300/CREBBP (CREB-binding protein) and EP300/CREBBP-associated factor by histone masking (PubMed:11830591). Preferentially binds to unmodified histone H3 and sterically inhibiting its acetylation and phosphorylation leading to cell growth inhibition (PubMed:16341127). Participates in other biochemical processes such as regulation of mRNA nuclear-to-cytoplasmic translocation and stability by its association with ELAVL1 (Hu-antigen R) (PubMed:18180367). Plays a role in E4F1-mediated transcriptional repression as well as inhibition of protein phosphatase 2A (PubMed:15642345, PubMed:17557114)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Multifunctional protein that is involved in the regulation of many processes., [UniProtKB, UniProtKB, UniProtKB]; [Silenced ANP32A inhibits the growth, invasion and migration of colorectal cancer in vitro via the inactivation of AKT 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": 6, "reported_mutagensis": 6, "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": "B2R6T4;Q53FK4;Q5J8L8;Q7M4N6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006913 nucleocytoplasmic transport;GO:0035556 intracellular signal transduction;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "P39687-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NF34-1", "uniprot_id": [ { "id": "ANTRL_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NF34", "type": "external" } ], "mass": 70629.0, "length": 631, "protein_name": "Anthrax toxin receptor-like", "gene_name": "ANTXRL", "organism": "Human", "refseq_name": "anthrax toxin receptor-like isoform 1 precursor", "refseq_ac": [ { "id": "NP_001265617", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265617", "type": "external" } ], "gene_names_uniprotkb": "ANTXRL", "gene_names_refseq": "ANTXRL", "protein_names_uniprotkb": "Anthrax toxin receptor-like", "protein_names_refseq": "anthrax toxin receptor like; anthrax toxin receptor-like isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:195977)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;27846572;28904123;32357974;32387766;32488085", "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": "H3BPS2", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0046872 metal ion binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A6NF34-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55211-1", "uniprot_id": [ { "id": "CASP9_HUMAN", "url": "https://www.uniprot.org/uniprot/P55211", "type": "external" } ], "mass": 46281.0, "length": 416, "protein_name": "Caspase-9", "gene_name": "CASP9", "organism": "Human", "refseq_name": "caspase-9 isoform alpha precursor", "refseq_ac": [ { "id": "NP_001220", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001220", "type": "external" } ], "gene_names_uniprotkb": "CASP9; MCH6", "gene_names_refseq": "APAF-3; APAF3; CASP9; ICE-LAP6; MCH6; PPP1R56", "protein_names_uniprotkb": "Caspase-9; 3.4.22.62; APAF-3; Apoptotic protease Mch-6; Apoptotic protease-activating factor 3; CASP-9; ICE-LAP6; ICE-like apoptotic protease 6", "protein_names_refseq": "ICE-like apoptotic protease 6; apoptotic protease MCH-6; apoptotic protease activating factor 3; caspase 9, apoptosis-related cysteine peptidase; caspase-9 isoform alpha precursor; protein phosphatase 1, regulatory subunit 56", "tax_id": 9606, "disease": "pre-malignant neoplasm (Disease Ontology:DOID:0060071); Parkinsonism (Disease Ontology:DOID:0080855); traumatic brain injury (Disease Ontology:DOID:0081292); endometritis (Disease Ontology:DOID:1002); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); heart disease (Disease Ontology:DOID:114); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); varicocele (Disease Ontology:DOID:12337); 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); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); post-traumatic stress disorder (Disease Ontology:DOID:2055); transient cerebral ischemia (Disease Ontology:DOID:224); severe acute respiratory syndrome (Disease Ontology:DOID:2945); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); middle cerebral artery infarction (Disease Ontology:DOID:3525); lung non-small cell carcinoma (Disease Ontology:DOID:3908); ureteral obstruction (Disease Ontology:DOID:5199); kidney disease (Disease Ontology:DOID:557); hepatocellular carcinoma (Disease Ontology:DOID:684); cataract (Disease Ontology:DOID:83); osteoarthritis (Disease Ontology:DOID:8398); diabetic retinopathy (Disease Ontology:DOID:8947); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:842); (R-HSA-111458); (R-HSA-111459); (R-HSA-111463); (R-HSA-111464); (R-HSA-168638); (R-HSA-198323); (R-HSA-418889); (R-HSA-5674400); (R-HSA-9627069)", "pathway_count": 10, "publication_count": 168, "publication_id_list": "10070954;10102273;10206961;10224040;10329646;10358075;10384055;10485710;10490848;10529400;10702308;10929711;10949025;10972280;11084335;11087742;11140638;11231573;11237011;11242052;11248093;11257231;11274386;11408476;11460167;11504915;11701129;11715018;11734640;11752425;12011067;12150915;12172553;12244303;12514169;12524439;12527755;12620238;12660240;12668767;12767043;12791997;12792650;12796777;12824163;12874265;12917691;12941691;14514672;14617782;14633987;14960576;15004527;15169778;15183529;15200957;15271982;15310786;15327770;15527798;15573119;15620648;15657060;15703181;16158190;16272144;16287866;16352606;16780893;16857965;16888006;16916640;17047224;17303577;17466630;17496917;17504303;17562858;17611497;18079694;18083711;18256540;18551195;18619610;18669648;18840507;18954143;19016842;19081073;19118655;19255499;19535145;19586613;19644473;19909554;20068231;20300203;20440266;20489726;20494139;21078168;21219631;21637382;22025163;23186163;23516580;23521171;23650375;24367089;25313070;26183061;26992070;27580936;27600516;27697150;27889207;28192157;28228285;28510447;28832583;28834231;29066624;29242379;29352269;29416675;29557506;29632711;29706631;29844931;30315122;30410026;31092671;31844290;31848261;32157095;32161166;32350084;32387766;32488085;33912179;34171305;34932366;35051231;35338844;35446120;35580925;36241641;36758105;36758106;37018492;37938771;38640919;8663294;8900201;9230442;9267021;9346240;9381178;9390557;9430721;9478990;9744859;9796814;9812896;9829964;9890966;9895304;9922454", "class_list": "", "function": "A Non-Apoptotic Pattern of Caspase-9/Caspase-3 Activation During Differentiation of Human Embryonic Stem Cells into Cardiomyocytes., [RefSeq, PubMed]; GD2-CART01 for Relapsed or Refractory High-Risk Neuroblastoma., [RefSeq, PubMed]; Involved in the activation cascade of caspases responsible for apoptosis execution. Binding of caspase-9 to Apaf-1 leads to activation of the protease which then cleaves and activates effector caspases caspase-3 (CASP3) or caspase-7 (CASP7). Promotes DNA damage-induced apoptosis in a ABL1/c-Abl-dependent manner. Proteolytically cleaves poly(ADP-ribose) polymerase (PARP). Cleaves BIRC6 following inhibition of BIRC6-caspase binding by DIABLO/SMAC (PubMed:36758105, PubMed:36758106)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Lacks activity is an dominant-negative inhibitor of caspase-9., [UniProtKB, 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 which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein can undergo autoproteolytic processing and activation by the apoptosome, a protein complex of cytochrome c and the apoptotic peptidase activating factor 1; this step is thought to be one of the earliest in the caspase activation cascade. This protein is thought to play a central role in apoptosis and to be a tumor suppressor. Alternative splicing results in multiple transcript variants. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 28, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 8, "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": "B4E1A3;O95348;Q53Y70;Q5JRU9;Q5UGI1;Q92852;Q9BQ62;Q9UEQ3;Q9UIJ8", "ec_number_list": [ { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.4.22.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.4.22.56", "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": "3.4.22.57", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.57", "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": "3.4.22.61", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.61", "type": "external" }, { "id": "4.2.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.109", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" } ], "go_molecular_function": "GO:0008047 enzyme activator activity;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0008233 peptidase activity;GO:0004197 cysteine-type endopeptidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0043293 apoptosome", "go_biological_process": "GO:0071680 response to indole-3-methanol;GO:0002931 response to ischemia;GO:0016485 protein processing;GO:0032496 response to lipopolysaccharide;GO:0043065 positive regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 17.1, "record_id": "P55211-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43747-1", "uniprot_id": [ { "id": "AP1G1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43747", "type": "external" } ], "mass": 91351.0, "length": 822, "protein_name": "AP-1 complex subunit gamma-1", "gene_name": "AP1G1", "organism": "Human", "refseq_name": "AP-1 complex subunit gamma-1 isoform a", "refseq_ac": [ { "id": "NP_001025178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025178", "type": "external" } ], "gene_names_uniprotkb": "AP1G1; ADTG; CLAPG1", "gene_names_refseq": "ADTG; AP1G1; CLAPG1; USRISD", "protein_names_uniprotkb": "AP-1 complex subunit gamma-1; Adaptor protein complex AP-1 subunit gamma-1; Adaptor-related protein complex 1 subunit gamma-1; Clathrin assembly protein complex 1 gamma-1 large chain; Gamma-adaptin; Gamma1-adaptin; Golgi adaptor HA1/AP1 adaptin subunit gamma-1", "protein_names_refseq": "AP-1 complex subunit gamma-1 isoform a; AP-1 complex subunit gamma-1; adapter-related protein complex 1 subunit gamma-1; adaptor protein complex AP-1 subunit gamma-1; adaptor related protein complex 1 gamma 1 subunit; clathrin assembly protein complex 1 gamma large chain; clathrin assembly protein complex 1 gamma-1 large chain; clathrin-associated/assembly/adaptor protein, large, gamma 1; gamma adaptin; gamma1-adaptin; golgi adaptor HA1/AP1 adaptin gamma subunit; golgi adaptor HA1/AP1 adaptin subunit gamma-1; testicular tissue protein Li 21", "tax_id": 9606, "disease": "Usmani-Riazuddin syndrome, autosomal dominant (MONDO:MONDO:0859174); Usmani-Riazuddin syndrome, autosomal recessive (MONDO:MONDO:0859196)", "pathway": " (hsa:164); (R-HSA-164940); (R-HSA-2132295); (R-HSA-432720); (R-HSA-432722)", "pathway_count": 5, "publication_count": 171, "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;11994746;12042876;12078484;12198549;12742663;12748383;12773381;14665628;14731593;15102850;15569716;15598649;15749704;15758025;15775984;15911768;16155256;16181339;16242130;16618111;16824007;16867982;17116749;17142755;17283181;18046453;18292509;19559397;1956401;19564404;19651769;20230749;20708039;21116285;2121367;21441454;21620353;2190094;23481700;2391366;24366607;24714562;25418920;25576301;25645385;25892735;26375851;26728094;26811146;26992070;27293189;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30573663;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32119511;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34102099;34171305;34185709;34357683;34405274;34509645;34725712;34932366;35051231;35154160;35318648;35580925;36010968;36241641;36284347;37938771;38265632;38665916;40914422;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;9653655;9733768", "class_list": "", "function": "Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy., [RefSeq, PubMed]; Endosomal protein expression of gamma1-adaptin is associated with tumor growth activity and relapse-free survival in breast cancer., [RefSeq, PubMed]; Subunit of clathrin-associated adaptor protein complex 1 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. In association with AFTPH/aftiphilin in the aftiphilin/p200/gamma-synergin complex, involved in the trafficking of transferrin from early to recycling endosomes, and the membrane trafficking of furin and the lysosomal enzyme cathepsin D between the trans-Golgi network (TGN) and endosomes (PubMed:15758025)., [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": 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": "O75709;O75842;Q9UG09;Q9Y3U4", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding;GO:0019894 kinesin binding;GO:0030742 GTP-dependent protein binding;GO:0035615 clathrin adaptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "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": "O43747-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04114-1", "uniprot_id": [ { "id": "APOB_HUMAN", "url": "https://www.uniprot.org/uniprot/P04114", "type": "external" } ], "mass": 515545.0, "length": 4563, "protein_name": "Apolipoprotein B-100", "gene_name": "APOB", "organism": "Human", "refseq_name": "apolipoprotein B-100 precursor", "refseq_ac": [ { "id": "NP_000375", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000375", "type": "external" } ], "gene_names_uniprotkb": "APOB", "gene_names_refseq": "APOB; FCHL2; FLDB; LDLCQ4; apoB-100; apoB-48", "protein_names_uniprotkb": "Apolipoprotein B-100; Apo B-100", "protein_names_refseq": "apolipoprotein B (including Ag(x) antigen); apolipoprotein B-100 precursor; apolipoprotein B-100; apolipoprotein B48", "tax_id": 9606, "disease": "familial hypobetalipoproteinemia 2 (Disease Ontology:DOID:0111061); familial hypobetalipoproteinemia 1 (Disease Ontology:DOID:0111062); sickle cell anemia (Disease Ontology:DOID:10923); familial hyperlipidemia (Disease Ontology:DOID:1168); nephrotic syndrome (Disease Ontology:DOID:1184); morbid obesity (Disease Ontology:DOID:11981); beta thalassemia (Disease Ontology:DOID:12241); cardiovascular system disease (Disease Ontology:DOID:1287); familial combined hyperlipidemia (Disease Ontology:DOID:13809); familial hypercholesterolemia (Disease Ontology:DOID:13810); hypobetalipoproteinemia (Disease Ontology:DOID:1390); aortic valve stenosis (Disease Ontology:DOID:1712); arteriosclerosis (Disease Ontology:DOID:2349); ovarian cancer (Disease Ontology:DOID:2394); gallbladder cancer (Disease Ontology:DOID:3121); coronary artery disease (Disease Ontology:DOID:3393); cerebral infarction (Disease Ontology:DOID:3526); bile duct cancer (Disease Ontology:DOID:4606); biliary tract cancer (Disease Ontology:DOID:4607); common bile duct neoplasm (Disease Ontology:DOID:4608); diabetic retinopathy (Disease Ontology:DOID:8947); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); hypercholesterolemia, autosomal dominant, type B (MONDO:MONDO:0007751)", "pathway": " (hsa:338); (R-HSA-202733); (R-HSA-3000471); (R-HSA-3000480); (R-HSA-3000484); (R-HSA-3000497); (R-HSA-381426); (R-HSA-432142); (R-HSA-5686938); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8866423); (R-HSA-8957275); (R-HSA-8963888); (R-HSA-8963901); (R-HSA-8964026); (R-HSA-8964038); (R-HSA-8964041); (R-HSA-8964046); (R-HSA-9707616); (R-HSA-975634)", "pathway_count": 21, "publication_count": 696, "publication_id_list": 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"class_list": "", "function": "Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Apolipoprotein B: Bridging the Gap Between Evidence and Clinical Practice. Review article, [RefSeq, PubMed]; Association between Apo B, LDL-R and PCSK9 gene polymorphisms with coronary artery diseases in Egyptians. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of Major Histocompatibility Complex Class II Epitopes From Lyme Autoantigen Apolipoprotein B-100 and Borrelia burgdorferi Mcp4 in Murine Lyme Arthritis., [RefSeq, PubMed]; This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Dec 2019]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 5, "mined_n_glycosites": 0, "mined_o_glycosites": 5, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 16, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 17, "reported_o_glycosites_with_glycan": 13, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 18, "total_reported_o_glycosites": 13, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 18, "total_o_glycosites": 18, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 18, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 231, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 140, "disease_count": 27, "glyco_site_count": 37, "binding_glycan_count": 0, "secondary_ac_list": "O00502;P78479;P78480;P78481;Q13779;Q13785;Q13786;Q13787;Q13788;Q4ZG63;Q53QC8;Q7Z600;Q9UMN0", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0008201 heparin binding;GO:0050750 low-density lipoprotein particle receptor binding;GO:0035473 lipase binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0008203 cholesterol metabolic process;GO:0042953 lipoprotein transport;GO:0010884 positive regulation of lipid storage;GO:0009615 response to virus;GO:0034374 low-density lipoprotein particle remodeling", "synthesized_glycan_count": 0, "hit_score": 86.8, "record_id": "P04114-1", "record_type": "protein", "filter_code": "0000000.1100111.000100.000000000001000000.1100010010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N2F6-1", "uniprot_id": [ { "id": "ARM10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N2F6", "type": "external" } ], "mass": 37540.0, "length": 343, "protein_name": "Armadillo repeat-containing protein 10", "gene_name": "ARMC10", "organism": "Human", "refseq_name": "armadillo repeat-containing protein 10 isoform b", "refseq_ac": [ { "id": "NP_001154481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154481", "type": "external" } ], "gene_names_uniprotkb": "ARMC10; PSEC0198; SVH", "gene_names_refseq": "ARMC10; PNAS-112; PNAS112; PSEC0198; SVH", "protein_names_uniprotkb": "Armadillo repeat-containing protein 10; Splicing variant involved in hepatocarcinogenesis protein", "protein_names_refseq": "armadillo repeat-containing protein 10 isoform b; specific splicing variant involved in hepatocarcinogenesis; splicing variant involved in hepatocarcinogenesis protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:83787)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12839973;16303743;17904127;18318008;18669648;19690332;20068231;20166139;21406692;23186163;23481700;24275569;27184847;27893789;27920218;28228285;28832583;28904123;29242379;30315122;30410026;30631047;31092671;31844290;32157095;32161166;32357974;32387766;32488085;32502341;32938616;33392160;33592498;33691108;33936100;33968037;34357683;36215666;37556559;38924214", "class_list": "", "function": "A novel gene SVH, up-regulated in hepatocellular carcinoma, was identified; four variants SVH-A, -B, -C, and -D, resulting from alternative splicing in the coding region of the SVH transcript, were observed and localized in the endoplasmic reticulum, [RefSeq, PubMed]; ARMC10 regulates mitochondrial dynamics and affects mitochondrial function via the Wnt/beta-catenin signalling pathway involved in ischaemic stroke., [RefSeq, PubMed]; Data show that the serine S45 site of armadillo repeat containing 10 (ARMC10) can be phosphorylated by AMP-activated protein kinase (AMPK) both in vitro and in vivo. . Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in cell survival and cell growth. May suppress the transcriptional activity of p53/TP53., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The oncomodulin receptor ArmC10 enables axon regeneration in mice after nerve injury and neurite outgrowth in human iPSC-derived sensory neurons., [RefSeq, PubMed]; This gene encodes a protein that contains an armadillo repeat and transmembrane domain. The encoded protein decreases the transcriptional activity of the tumor suppressor protein p53 through direct interaction with the DNA-binding domain of p53, and may play a role in cell growth and survival. Upregulation of this gene may play a role in hepatocellular carcinoma. 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 3. [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": 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": 0, "reported_glycation": 0, "reported_snv": 11, "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": "A8K703;B4DWJ8;F5GX65;Q75K91;Q75MG6;Q75ML8;Q8IZC1;Q8IZC2;Q8IZC3;Q9BTM6", "ec_number_list": [], "go_molecular_function": "GO:0002039 p53 binding;GO:0050692 DNA binding domain binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:1904115 axon cytoplasm", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0040010 positive regulation of growth rate;GO:1902254 negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator;GO:0019896 axonal transport of mitochondrion", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q8N2F6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92844-1", "uniprot_id": [ { "id": "TANK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92844", "type": "external" } ], "mass": 47816.0, "length": 425, "protein_name": "TRAF family member-associated NF-kappa-B activator", "gene_name": "TANK", "organism": "Human", "refseq_name": "TRAF family member-associated NF-kappa-B activator isoform a", "refseq_ac": [ { "id": "NP_001186064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186064", "type": "external" } ], "gene_names_uniprotkb": "TANK; ITRAF; TRAF2", "gene_names_refseq": "I-TRAF; ITRAF; TANK; TRAF2", "protein_names_uniprotkb": "TRAF family member-associated NF-kappa-B activator; I-TRAF; TRAF-interacting protein", "protein_names_refseq": "TRAF family member-associated NF-KAPPA-B activator; TRAF family member-associated NF-kappa-B activator isoform a; TRAF-interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:10010); (R-HSA-9013973); (R-HSA-933541); (R-HSA-936964); (R-HSA-9824878); (R-HSA-9828211)", "pathway_count": 6, "publication_count": 85, "publication_id_list": "10421793;10581243;10759890;11073981;11237011;12005438;12133833;12604599;12692549;14517278;14555995;14703513;15210742;15361868;16153868;16306936;16306937;16914100;17047224;17081983;17157040;17327220;17526488;17568778;17599067;17823124;18669648;18691976;19369195;19479062;19668221;19898473;20043992;20068231;20627800;21138416;21862579;21931555;21931631;22619329;23186163;23301498;23453969;23453971;23453972;24275569;24715725;24722368;25576301;25861989;26154972;26363073;27538435;27846572;27920218;28487378;28566380;28649982;28832583;28904123;29242379;29351928;29493099;29508533;29632711;31844290;32157095;32350084;33141586;33298915;33316896;33968037;34357683;35051231;35154160;35580925;36284347;36936901;37215097;38665916;8710854;8855313;9566918;9660935;9822609", "class_list": "", "function": "Adapter protein involved in I-kappa-B-kinase (IKK) regulation which constitutively binds TBK1 and IKBKE playing a role in antiviral innate immunity. Acts as a regulator of TRAF function by maintaining them in a latent state. Blocks TRAF2 binding to LMP1 and inhibits LMP1-mediated NF-kappa-B activation. Negatively regulates NF-kappaB signaling and cell survival upon DNA damage (PubMed:25861989). Plays a role as an adapter to assemble ZC3H12A, USP10 in a deubiquitination complex which plays a 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). Promotes UBP10-induced deubiquitination of TRAF6 in response to DNA damage (PubMed:25861989). May control negatively TRAF2-mediated NF-kappa-B activation signaled by CD40, TNFR1 and TNFR2., [UniProtKB, PubMed, PubMed, PubMed]; TANK shapes an immunosuppressive microenvironment and predicts prognosis and therapeutic response in glioma. Publication Status: Online-Only, [RefSeq, PubMed]; The TRAF (tumor necrosis factor receptor-associated factor) family of proteins associate with and transduce signals from members of the tumor necrosis factor receptor superfamily. The protein encoded by this gene is found in the cytoplasm and can bind to TRAF1, TRAF2, or TRAF3, thereby inhibiting TRAF function by sequestering the TRAFs in a latent state in the cytoplasm. For example, the protein encoded by this gene can block TRAF2 binding to LMP1, the Epstein-Barr virus transforming protein, and inhibit LMP1-mediated NF-kappa-B activation. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]., [RefSeq]; UBAC1/KPC2 Regulates TLR3 Signaling in Human Keratinocytes through Functional Interaction with the CARD14/CARMA2sh-TANK Complex. 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": 24, "reported_mutagensis": 13, "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": "D3DPB5;Q7Z4J6;Q92885", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding;GO:0035800 deubiquitinase activator activity", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0032991 protein-containing complex", "go_biological_process": "GO:0007165 signal transduction;GO:0051607 defense response to virus;GO:0060337 type I interferon-mediated signaling pathway;GO:0006974 DNA damage response;GO:0043124 negative regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q92844-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQ31-1", "uniprot_id": [ { "id": "AKIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQ31", "type": "external" } ], "mass": 23114.0, "length": 210, "protein_name": "A-kinase-interacting protein 1", "gene_name": "AKIP1", "organism": "Human", "refseq_name": "A-kinase-interacting protein 1 isoform b", "refseq_ac": [ { "id": "NP_001193575", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193575", "type": "external" } ], "gene_names_uniprotkb": "AKIP1; BCA3; C11orf17", "gene_names_refseq": "AKIP1; BCA3; C11orf17", "protein_names_uniprotkb": "A-kinase-interacting protein 1; Breast cancer-associated gene 3 protein; PKA-interacting protein; Proline-rich protein BCA3", "protein_names_refseq": "A kinase (PRKA) interacting protein 1; A-kinase-interacting protein 1 isoform b; breast cancer associated gene 3; koyt binding protein 1; koyt binding protein 2; koyt binding protein 3; proline-rich protein BCA3", "tax_id": 9606, "disease": "", "pathway": " (hsa:56672)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "11237011;11528127;12527432;15630084;18178962;19913121;20562110;22869377;23481700;25576301;26154972;26375851;26758079;26992070;27397612;27543614;27846572;27920218;28228285;28832583;29242379;29393594;29508533;29557506;29632711;29786170;30484775;30779550;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32488085;32502341;32897882;32938616;33141586;33392160;33832094;33968037;33981976;34166397;34171305;34932366;35051231;35111846;35318648;35474062;35580925;36215666;36241641;36284347;37938771", "class_list": "", "function": "AKIP1 colocalized with p65 within the cells and appeared to retain p65 in nucleus., [RefSeq, PubMed]; AKIP1 describes a PKA-interacting protein that can contribute to localization by a mechanism that is distinct from A-kinase anchoring proteins that interact with the regulatory subunits., [RefSeq, PubMed]; Characterization of the BCA3 gene; BCA3 is expressed in breast tumor cells in vivo, and not in surrounding stromal tissue, [RefSeq, PubMed]; Ebola virus VP35 hijacks the PKA-CREB1 pathway for replication and pathogenesis by AKIP1 association. Publication Status: Online-Only, [RefSeq, PubMed]; Enhances NF-kappa-B transcriptional activity by regulating the nuclear localization of the NF-kappa-B subunit RELA and promoting the phosphorylation of RELA by PRKACA. Regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PKA and AKIP1 interact to mediate cAMP-driven COX-2 expression: A potentially pivotal interaction in preterm and term labour. Publication Status: Online-Only, [RefSeq, PubMed]; Silencing of AKIP1 Suppresses the Proliferation, Migration, and Epithelial-Mesenchymal Transition Process of Glioma Cells by Upregulating DLG2. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]; Upregulation of a kinase interacting protein 1 in tongue squamous cell carcinoma correlates with lymph node metastasis and poor overall survival., [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": "Q8NBS2;Q8TAC6;Q8TAD3;Q8TAE0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:1901222 regulation of non-canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9NQ31-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96F86-1", "uniprot_id": [ { "id": "EDC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96F86", "type": "external" } ], "mass": 56078.0, "length": 508, "protein_name": "Enhancer of mRNA-decapping protein 3", "gene_name": "EDC3", "organism": "Human", "refseq_name": "enhancer of mRNA-decapping protein 3 isoform 1", "refseq_ac": [ { "id": "NP_001135915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135915", "type": "external" } ], "gene_names_uniprotkb": "EDC3; LSM16; PP844; YJDC; YJEFN2", "gene_names_refseq": "EDC3; LSM16; MRT50; YJDC; YJEFN2; hYjeF_N2-15q23", "protein_names_uniprotkb": "Enhancer of mRNA-decapping protein 3; LSM16 homolog; YjeF N-terminal domain-containing protein 2; YjeF domain-containing protein 1; YjeF_N2; hYjeF_N2", "protein_names_refseq": "LSM16 homolog (EDC3, S. cerevisiae); enhancer of mRNA decapping 3 homolog; enhancer of mRNA-decapping protein 3 isoform 1; enhancer of mRNA-decapping protein 3; yjeF N-terminal domain-containing protein 2; yjeF domain containing; yjeF domain-containing protein 1", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 50 (Disease Ontology:DOID:0081213)", "pathway": " (hsa:80153); (R-HSA-430039)", "pathway_count": 2, "publication_count": 106, "publication_id_list": "11237011;11283721;12218187;12417715;12486012;12515382;12923261;14749774;15085179;15231747;15475613;15498874;15711010;16051491;16141059;16246173;16299471;16364915;16964243;17245413;17287340;17322306;17533573;17923697;18039849;18077418;18669648;18678652;19061636;19239894;19279404;19285948;19413330;19651622;19664994;19664995;19690332;20051463;20068231;21406692;22706990;23186163;23301498;24275569;24714562;25576301;25645385;25701870;26992070;27600516;27846572;27920218;28063628;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29485866;29508533;29557506;29632046;29632711;29786170;30315122;30429286;31154438;31217245;31373491;31422817;31439631;31530632;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33633747;33691108;33912179;33968037;33981976;34087483;34171305;34509645;34932366;35051231;35132862;35138101;35318648;35580925;35705054;36241641;36284347;37938771;40914422", "class_list": "", "function": "Binds single-stranded RNA. Involved in the process of mRNA degradation and in the positive regulation of mRNA decapping. May play a role in spermiogenesis and oogenesis., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein that is important in mRNA degradation. The encoded protein is a component of a decapping complex that promotes efficient removal of the monomethylguanosine (m7G) cap from mRNAs, as part of the 5' to 3' mRNA decay pathway. Mutations in this gene have been identified in human patients with an autosomal recessive form of intellectual disability. [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": 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": 4, "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": "B3KPH0;D3DW61;Q9H797", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0000932 P-body;GO:0036464 cytoplasmic ribonucleoprotein granule", "go_biological_process": "GO:0000290 deadenylation-dependent decapping of nuclear-transcribed mRNA;GO:0033962 P-body assembly;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": 11.1, "record_id": "Q96F86-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01432-1", "uniprot_id": [ { "id": "AMPD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01432", "type": "external" } ], "mass": 88812.0, "length": 767, "protein_name": "AMP deaminase 3", "gene_name": "AMPD3", "organism": "Human", "refseq_name": "AMP deaminase 3 isoform 1A", "refseq_ac": [ { "id": "NP_000471", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000471", "type": "external" } ], "gene_names_uniprotkb": "AMPD3", "gene_names_refseq": "AMPD3", "protein_names_uniprotkb": "AMP deaminase 3; 3.5.4.6; AMP deaminase isoform E; Erythrocyte AMP deaminase", "protein_names_refseq": "AMP aminohydrolase; AMP deaminase 3 isoform 1A; AMP deaminase 3; adenosine monophosphate deaminase (isoform E); erythrocyte AMP deaminase; erythrocyte type AMP deaminase; erythrocyte-specific AMP deaminase; myoadenylate deaminase", "tax_id": 9606, "disease": "pontocerebellar hypoplasia (Disease Ontology:DOID:0060264); obsolete erythrocyte AMP deaminase deficiency (MONDO:MONDO:0020734)", "pathway": " (hsa:272); (R-HSA-6798695); (R-HSA-74217)", "pathway_count": 3, "publication_count": 97, "publication_id_list": "11139257;11237011;11427893;12009299;1400401;1420359;1429593;16359702;18399692;19690332;20058876;20068231;2104852;21755941;218932;227870;23186163;23650620;24714562;2539852;25418920;25576301;25880248;26375851;26728094;26992070;27846572;27862975;27920218;28063628;28218747;28228285;2844225;2845866;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;2999129;3029074;30315122;30429286;30779550;30833945;31154438;31217245;31530632;3182793;31844290;31848261;31998317;32144205;32157095;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33592498;33633747;33717175;33912179;33968037;34087483;34357683;35051231;35241525;35494241;35580925;36815317;37725437;457664;6281270;6300847;6771276;7881427;8004104;8611627;8692836;8692979;9291127;9598089;9804782;9843365;9857047", "class_list": "", "function": "AMP deaminase plays a critical role in energy metabolism., [UniProtKB, PubMed]; Adenosine monophosphate deaminase in the endoplasmic reticulum-mitochondria interface promotes mitochondrial Ca[2+] overload in type 2 diabetes rat hearts., [RefSeq, PubMed]; Down-regulation of AMPD3 Is Associated With Poor Survival in Head and Neck Squamous Cell Carcinoma., [RefSeq, PubMed]; Erythrocyte ENT1-AMPD3 Axis is an Essential Purinergic Hypoxia Sensor and Energy Regulator Combating CKD in a Mouse Model., [RefSeq, PubMed]; This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been 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": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 17, "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": "A0AUX0;B7Z2S2;B7Z763;B7Z877", "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": "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": "3.5.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.6", "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": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "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": "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": "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": "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": "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:0046872 metal ion binding;GO:0003876 AMP deaminase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0034774 secretory granule lumen;GO:1904813 ficolin-1-rich granule lumen", "go_biological_process": "GO:0046033 AMP metabolic process;GO:0006196 AMP catabolic process;GO:0006188 IMP biosynthetic process;GO:0032264 IMP salvage", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q01432-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y689-1", "uniprot_id": [ { "id": "ARL5A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y689", "type": "external" } ], "mass": 20728.0, "length": 179, "protein_name": "ADP-ribosylation factor-like protein 5A", "gene_name": "ARL5A", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 5A isoform 2", "refseq_ac": [ { "id": "NP_001032251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032251", "type": "external" } ], "gene_names_uniprotkb": "ARL5A; ARFLP5; ARL5", "gene_names_refseq": "ARFLP5; ARL5A; ARL5", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 5A", "protein_names_refseq": "ADP ribosylation factor like GTPase 5A; ADP-ribosylation factor-like 5A; ADP-ribosylation factor-like 5; ADP-ribosylation factor-like protein 5A isoform 2; ADP-ribosylation factor-like protein 5A; ADP-ribosylation factor-like protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:26225)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10931946;11237011;12414990;12450215;15896705;24327274;25576301;26375851;26992070;28228285;29242379;29314611;29393594;29557506;30315122;30429286;30478271;30833945;31530632;31575603;31844290;31848261;32157095;32938616;32983136;33912179;33936100;35580925", "class_list": "", "function": "Arl5, an ARF-like family small GTPase, interacts with Ragulator in an amino acid-regulated manner and both Arl5 and its effector, the Golgi-associated retrograde protein complex (GARP), are required for the AA-stimulated trafficking. Publication Status: Online-Only, [RefSeq, PubMed]; Crystal structure, [RefSeq, PubMed]; Developmentally regulated ARL5, with its distinctive nuclear/nucleolar localization and interaction with HP1alpha, may play a role(s) in nuclear dynamics and/or signaling cascades during embryonic development, [RefSeq, PubMed]; Lacks ADP-ribosylation enhancing activity., [UniProtKB]; MicroRNA-202-3p inhibits cell proliferation by targeting ADP-ribosylation factor-like 5A in human colorectal carcinoma., [RefSeq, PubMed]; The ARFRP1 functions upstream of two other ARL GTPases, ARL1 and ARL5, which in turn recruit golgins and GARP, respectively, to the trans-Golgi network (TGN). Erratum:[J Cell Biol. 2019 Nov 4;218(11):3880-3881. doi: 10.1083/jcb.20190509710072019c. PMID: 31604800], [RefSeq, PubMed]; The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. With its distinctive nuclear/nucleolar localization and interaction with HP1alpha, the protein is developmentally regulated and may play a role(s) in nuclear dynamics and/or signaling cascades during embryonic development. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q580I5", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport;GO:1903292 protein localization to Golgi membrane", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9Y689-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14498-1", "uniprot_id": [ { "id": "RBM39_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14498", "type": "external" } ], "mass": 59380.0, "length": 530, "protein_name": "RNA-binding protein 39", "gene_name": "RBM39", "organism": "Human", "refseq_name": "RNA-binding protein 39 isoform c", "refseq_ac": [ { "id": "NP_001229528", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229528", "type": "external" } ], "gene_names_uniprotkb": "RBM39; HCC1; RNPC2", "gene_names_refseq": "CAPERalpha; CAPER; FSAP59; HCC1; RBM39; RNPC2", "protein_names_uniprotkb": "RNA-binding protein 39; CAPER alpha; CAPERalpha; Hepatocellular carcinoma protein 1; RNA-binding motif protein 39; RNA-binding region-containing protein 2; Splicing factor HCC1", "protein_names_refseq": "CAPER alpha; RNA-binding protein 39 isoform c; RNA-binding region (RNP1, RRM) containing 2; coactivator of activating protein-1 and estrogen receptors; epididymis secretory sperm binding protein; functional spliceosome-associated protein 59; hepatocellular carcinoma protein 1; splicing factor HCC1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9584); (R-HSA-72163); (R-HSA-9770562)", "pathway_count": 3, "publication_count": 220, "publication_id_list": "10669729;10882114;11014198;11060040;11101529;11233976;11237011;11704680;11991638;12176931;12411573;12414731;12477934;14625303;14713954;14749727;15037765;15565158;15694343;15747776;15798186;16314458;16809785;17081983;17095540;17128255;17322306;17332742;17606899;17924679;18212344;18288197;18322460;18452278;18593880;18669648;18691976;18707149;18753212;18767875;19007248;19103666;19165350;19217410;19536130;19651622;19664995;19690332;19691289;20068231;20166139;20230923;20423332;20695905;20980672;21295486;21406692;21536652;2176635;22110043;22223895;22365833;22813749;22959432;22961380;23186163;23222130;23236153;23345524;23481700;23874216;24076191;24149845;24196718;24275569;24304693;24448447;24714562;24715725;24737827;24795046;24914973;25301780;25301781;25418920;25555158;25576301;2558966;25880248;25892735;26154972;26385511;26420826;26728094;26929215;26969736;26992070;27018250;27377154;27459055;27600516;27683217;27846572;28062851;28076346;28096519;28228285;28302793;28437394;28502770;28510447;28514659;28781166;28832583;28904123;28911096;29186539;29242379;29274231;29301961;29314611;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632046;29632711;2963332;29769354;29786170;30139799;30257008;30315122;30315277;30429286;30705154;30728453;30765414;30975767;31154438;31217245;31271494;31409651;31530632;31686031;31693891;31693911;31819272;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32179686;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32522876;32816001;32897882;32938616;32983136;33141586;33214551;33243851;33298915;33392160;33446560;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34301950;34509645;34725712;34822310;35051231;35138101;35177536;35251023;35385551;35580925;36010968;36241641;36284347;37217939;3757028;37852323;37938771;38065060;38665916;39048555;39260689;8227358;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "10 genes were down-regulated following treatment of the T-ALL cells with 0.15 and 1.5 microg/mL of metal ores at 72 h, [RefSeq, PubMed]; Deubiquitinating enzyme USP39 promotes the growth and metastasis of gastric cancer cells by modulating the degradation of RNA-binding protein RBM39., [RefSeq, PubMed]; MORC2 regulates RBM39-mediated CDK5RAP2 alternative splicing to promote EMT and metastasis in colon cancer. Publication Status: Online-Only, [RefSeq, PubMed]; RBM39: A druggable metabolic sensor linking RNA splicing, transcriptional regulation, and metabolic reprogramming in cancer., [RefSeq, PubMed]; RNA-binding protein that acts as a pre-mRNA splicing factor (PubMed:15694343, PubMed:24795046, PubMed:28302793, PubMed:28437394, PubMed:31271494). Acts by promoting exon inclusion via regulation of exon cassette splicing (PubMed:31271494). Also acts as a transcriptional coactivator for steroid nuclear receptors ESR1/ER-alpha and ESR2/ER-beta, and JUN/AP-1, independently of the pre-mRNA splicing factor activity (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Regulatory role of RBM39 in acute myeloid leukemia: Mediation through the PI3K/AKT pathway., [RefSeq, PubMed]; This gene encodes a member of the U2AF65 family of proteins. The encoded protein is found in the nucleus, where it co-localizes with core spliceosomal proteins. It has been shown to play a role in both steroid hormone receptor-mediated transcription and alternative splicing, and it is also a transcriptional coregulator of the viral oncoprotein v-Rel. Multiple transcript variants have been observed for this gene. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Aug 2011]., [RefSeq]; This paper describes the mouse gene., [RefSeq, PubMed]; This study identifies CAPERalpha (RNA binding motif protein 39) as a new transcriptional coregulator for v-Rel and reveals an important role in modulating Rel's oncogenic 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": 21, "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": "A2RRD3;A5D8W2;B0BLV3;E1P5S0;E1P5S1;Q14499", "ec_number_list": [], "go_molecular_function": "GO:1990446 U1 snRNP binding;GO:0003723 RNA binding;GO:0050733 RS domain binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0032991 protein-containing complex;GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006396 RNA processing;GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0048024 regulation of mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 22.3, "record_id": "Q14498-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61024-1", "uniprot_id": [ { "id": "CKS1_HUMAN", "url": "https://www.uniprot.org/uniprot/P61024", "type": "external" } ], "mass": 9660.0, "length": 79, "protein_name": "Cyclin-dependent kinases regulatory subunit 1", "gene_name": "CKS1B", "organism": "Human", "refseq_name": "cyclin-dependent kinases regulatory subunit 1", "refseq_ac": [ { "id": "NP_001817", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001817", "type": "external" } ], "gene_names_uniprotkb": "CKS1B; CKS1; PNAS-143; PNAS-16", "gene_names_refseq": "CKS1B; CKS1; PNAS-16; PNAS-18; ckshs1", "protein_names_uniprotkb": "Cyclin-dependent kinases regulatory subunit 1; CKS-1", "protein_names_refseq": "CDC2-associated protein CKS1; CDC28 protein kinase 1B; NB4 apoptosis/differentiation related protein; cell division control protein CKS1; cyclin-dependent kinases regulatory subunit 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:1163); (R-HSA-187577); (R-HSA-69231)", "pathway_count": 3, "publication_count": 108, "publication_id_list": "10207050;10323868;10375532;10385618;10499802;10501844;10559916;10831586;11032757;11073976;11157749;11231573;11231585;11237011;11416152;11719808;11884610;12435635;12444543;1423597;14517297;14597415;15199159;15579463;16195327;16209941;16782892;17016520;17092340;17254966;17254967;17908796;1828392;1828393;1828394;18414028;18710949;18719096;18827403;19075005;19458076;19487459;20068231;20107323;20663872;20843055;20952511;21423214;21715330;2227411;23007395;23622515;23737759;24515438;24876129;25505266;25733683;25880248;26154972;26375851;26992070;27920218;28832583;29242379;29493099;30711375;30833945;31217245;31530632;31543423;31844290;32157095;32161166;32350084;32488085;32897882;33392160;33592498;33936100;33968037;34087483;34932366;35051231;35174774;35251023;35318648;35561310;35580925;36010968;36284347;39894887;7791211;7797074;7954814;8114739;8139570;8246996;8336704;8497257;8601310;9042862;9106657;9144196;9190208;9325318;9447971;9448290;9508775", "class_list": "", "function": "Binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS1B mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. At least two transcript variants have been identified for this gene, and it appears that only one of them encodes a protein. [provided by RefSeq, Sep 2008]., [RefSeq]; Regulation of microRNA miR-197-3p/CDC28 protein kinase regulatory subunit 1B (CKS1B) axis by Circular RNA hsa_circ_0000285 promotes glioma 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": 2, "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": "P33551", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0042393 histone binding;GO:0043130 ubiquitin binding;GO:0061575 cyclin-dependent protein serine/threonine kinase activator activity;GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0019005 SCF ubiquitin ligase complex;GO:0000307 cyclin-dependent protein kinase holoenzyme complex", "go_biological_process": "GO:0051301 cell division;GO:0007346 regulation of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "P61024-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWT6-1", "uniprot_id": [ { "id": "HIF1N_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWT6", "type": "external" } ], "mass": 40285.0, "length": 349, "protein_name": "Hypoxia-inducible factor 1-alpha inhibitor", "gene_name": "HIF1AN", "organism": "Human", "refseq_name": "hypoxia-inducible factor 1-alpha inhibitor", "refseq_ac": [ { "id": "NP_060372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060372", "type": "external" } ], "gene_names_uniprotkb": "HIF1AN; FIH1", "gene_names_refseq": "FIH1; HIF1AN", "protein_names_uniprotkb": "Hypoxia-inducible factor 1-alpha inhibitor; 1.14.11.30; 1.14.11.n4; FIH-1; Factor inhibiting HIF-1; Hypoxia-inducible factor asparagine hydroxylase", "protein_names_refseq": "FIH-1; factor inhibiting HIF-1; factor inhibiting HIF1; hypoxia inducible factor 1 alpha subunit inhibitor; hypoxia-inducible factor 1-alpha inhibitor; hypoxia-inducible factor asparagine hydroxylase; peptide-aspartate beta-dioxygenase", "tax_id": 9606, "disease": "", "pathway": " (hsa:55662); (R-HSA-1234174)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "11237011;11641274;11823643;11959990;12042299;12080085;12432100;12446723;12482756;12615973;14701857;14734545;15239670;15913349;17003112;17135241;17573339;18299578;18611856;19245366;19623180;19726677;20396966;20822901;21177872;21251231;21460794;22223895;22645313;24397554;25418920;25576301;25802875;26154972;26811146;26948053;27846572;27920218;28832583;28904123;29242379;29393594;29493099;29557506;30315122;30779550;30833945;31222486;31844290;31848261;32157095;32161166;32357974;32488085;32502341;32897882;32938616;32983136;33298915;33537174;33592498;33717175;33912179;33981976;34087483;34932366;35051231;35166119;35537551;35580925;36010968;36241641;36284347;36683111;39154583", "class_list": "", "function": "Cancer cell-derived exosomes promote NSCLC progression via the miR-199b-5p/HIF1AN axis., [RefSeq, PubMed]; FIH-1 is an asparaginyl hydroxylase enzyme that regulates the transcriptional activity of hypoxia-inducible factor, [RefSeq, PubMed]; Factor inhibiting HIF can catalyze two asparaginyl hydroxylations in VNVN motifs of ankyrin fold proteins., [RefSeq, PubMed]; Gene name = FIH1Encoded protein (factor inhibiting HIF-1) is a co-repressor that interacts with hypoxia-inducible factor 1 (HIF-1) alpha and the von Hippel-Lindau tumor suppressor protein to mediate repression of HIF-1 transcriptional activity. Erratum:[Genes Dev. 2025 Jul 1;39(13-14):907. doi: 10.1101/gad.352958.125. PMID: 40592560], [RefSeq, PubMed]; Hydroxylates HIF-1 alpha at 'Asn-803' in the C-terminal transactivation domain (CAD). Functions as an oxygen sensor and, under normoxic conditions, the hydroxylation prevents interaction of HIF-1 with transcriptional coactivators including Cbp/p300-interacting transactivator. Involved in transcriptional repression through interaction with HIF1A, VHL and histone deacetylases. Hydroxylates specific Asn residues within ankyrin repeat domains (ARD) of NFKB1, NFKBIA, NOTCH1, ASB4, PPP1R12A and several other ARD-containing proteins. Also hydroxylates Asp and His residues within ARDs of ANK1 and TNKS2, respectively. Negatively regulates NOTCH1 activity, accelerating myogenic differentiation. Positively regulates ASB4 activity, promoting vascular differentiation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Structural basis for recruitment of CBP/p300 by hypoxia-inducible factor-1 alpha, [RefSeq, PubMed]; The Asparagine Hydroxylase FIH: A Unique Oxygen Sensor. Review article, [RefSeq, PubMed]; Ubiquitin protein E3 ligase ASB9 suppresses proliferation and promotes apoptosis in human spermatogonial stem cell line by inducing HIF1AN degradation. 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": 8, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "diagnostic", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DR69;Q5W147;Q969Q7;Q9NPV5", "ec_number_list": [ { "id": "1.14.11.30", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.30", "type": "external" }, { "id": "1.14.11.n4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.n4", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0003714 transcription corepressor activity;GO:0005112 Notch binding;GO:0031406 carboxylic acid binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:2001214 positive regulation of vasculogenesis;GO:0045746 negative regulation of Notch signaling pathway;GO:0030947 regulation of vascular endothelial growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q9NWT6-1", "record_type": "protein", "filter_code": "1000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08069-1", "uniprot_id": [ { "id": "IGF1R_HUMAN", "url": "https://www.uniprot.org/uniprot/P08069", "type": "external" } ], "mass": 154793.0, "length": 1367, "protein_name": "Insulin-like growth factor 1 receptor", "gene_name": "IGF1R", "organism": "Human", "refseq_name": "insulin-like growth factor 1 receptor isoform 1 precursor", "refseq_ac": [ { "id": "NP_000866", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000866", "type": "external" } ], "gene_names_uniprotkb": "IGF1R", "gene_names_refseq": "CD221; IGF1R; IGFIR; IGFR; JTK13", "protein_names_uniprotkb": "Insulin-like growth factor 1 receptor; 2.7.10.1; IGF-I receptor; Insulin-like growth factor I receptor", "protein_names_refseq": "IGF-I receptor; insulin-like growth factor 1 receptor isoform 1 precursor", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); cardiomyopathy (Disease Ontology:DOID:0050700); alcohol dependence (Disease Ontology:DOID:0050741); Zollinger-Ellison syndrome (Disease Ontology:DOID:0050782); stroke (Disease Ontology:DOID:0051061); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); prostate cancer (Disease Ontology:DOID:10283); prostate carcinoma (Disease Ontology:DOID:10286); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); gastroschisis (Disease Ontology:DOID:11044); prostatic hypertrophy (Disease Ontology:DOID:11132); cryptorchidism (Disease Ontology:DOID:11383); osteoporosis (Disease Ontology:DOID:11476); portal vein thrombosis (Disease Ontology:DOID:11695); gestational diabetes (Disease Ontology:DOID:11714); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); Lewy body dementia (Disease Ontology:DOID:12217); Graves' disease (Disease Ontology:DOID:12361); dementia (Disease Ontology:DOID:1307); alcoholic neuropathy (Disease Ontology:DOID:14183); Parkinson's disease (Disease Ontology:DOID:14330); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); pancreatic cancer (Disease Ontology:DOID:1793); nephroblastoma (Disease Ontology:DOID:2154); prostate adenocarcinoma (Disease Ontology:DOID:2526); IgA glomerulonephritis (Disease Ontology:DOID:2986); acute kidney failure (Disease Ontology:DOID:3021); high grade glioma (Disease Ontology:DOID:3070); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); toxic encephalopathy (Disease Ontology:DOID:3602); glucose metabolism disease (Disease Ontology:DOID:4194); coronary stenosis (Disease Ontology:DOID:4248); renal cell carcinoma (Disease Ontology:DOID:4450); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); liver cirrhosis (Disease Ontology:DOID:5082); sleep disorder (Disease Ontology:DOID:535); gastrinoma (Disease Ontology:DOID:5577); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); neuroblastoma (Disease Ontology:DOID:769); hyperthyroidism (Disease Ontology:DOID:7998); osteoarthritis (Disease Ontology:DOID:8398); ulcerative colitis (Disease Ontology:DOID:8577); vascular dementia (Disease Ontology:DOID:8725); diabetic retinopathy (Disease Ontology:DOID:8947); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); vesicoureteral reflux (Disease Ontology:DOID:9620); diabetic neuropathy (Disease Ontology:DOID:9743); obesity (Disease Ontology:DOID:9970); growth delay due to insulin-like growth factor I resistance (MONDO:MONDO:0010038)", "pathway": " (hsa:3480); (R-HSA-2404192); (R-HSA-2428928); (R-HSA-2428933); (R-HSA-9009391); (R-HSA-9820960)", "pathway_count": 6, "publication_count": 226, "publication_id_list": "10.1101/2023.09.13.557529;10026153;10319328;10427092;10454568;10531310;10579905;10671200;10747872;10749889;10806474;11029009;11029403;11043579;11044445;11071852;11162456;11185956;11237011;11316748;11369763;11477410;11557037;11591350;11689445;11694888;11773442;11773443;11825873;11884618;11981029;12019176;12048194;12138094;12138114;12388769;12421825;12431978;12511868;12556535;12588983;12639902;12682286;12808053;12821780;12881510;1310594;1316909;1378832;14501110;14657428;14712218;14729630;14764897;15033483;15044318;15090535;15182363;15231873;15314172;15467163;15496458;15569929;15657067;15705661;15878855;15928254;15956360;15998644;16239258;16274718;16636149;16645038;16754202;16831875;16835357;1697749;16981855;17016520;17037979;1711844;17317169;17344846;17389395;17408801;17424910;17524361;17525128;17535799;17624760;17916740;17921256;18206197;18452152;1845984;1846292;18501599;18566589;18657504;18669648;18691976;18767875;19041240;19138696;19139090;19578119;19778024;19879889;20068231;20439495;20545947;20596523;20650261;20675137;20861220;21414779;21441024;21680538;21851428;21994939;22028449;22031296;22140443;22266855;22351760;22438913;22446104;23090970;23481700;24039841;24190977;24205274;24530924;24648957;25040157;25587652;25645385;26041671;26584640;26692333;26992070;27288742;28218747;2839228;28539435;2877871;28904123;29427996;2969892;29738483;29786170;3011795;3013881;3015966;3019338;30429286;30459171;30653502;30779550;30833945;31020640;31844290;32157095;32350084;32387766;32494007;32938616;33328764;33592498;33912179;33968037;34078123;34087483;34171305;34185709;34357683;35051231;35580925;36010968;36215666;37074911;39067323;39075581;39082947;39165088;7493944;7526779;7541045;7559478;7559507;7589433;7642582;7679099;7750475;7798258;7876259;8033892;8247543;8257688;8452530;8530377;8550552;8603569;8662806;8782602;8810325;8876252;8895367;8940173;9003010;9173876;9202395;9355755;9395517;9415396;9480911;9553137;9565625;9581554;9616126;9690470;9690478;9727029;9822622;9832424;9852124", "class_list": "", "function": "Dysregulation of the IGF-IR internal ribosomal entry site through changes in the activities of RNA-binding translation-regulatory proteins could be responsible for IGF-IR overexpression in a proportion of human breast tumors., [RefSeq, PubMed]; IGF1R signaling induces epithelial-mesenchymal plasticity via ITGAV in cutaneous carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; KLF15 alleviates oxidative stress and apoptosis of H/R-induced trophoblast cells to improve invasion and migration capacity via the activation of IGF1R., [RefSeq, PubMed]; Newborn adiposity is associated with cord blood DNA methylation at IGF1R and KLF7., [RefSeq, PubMed]; Receptor tyrosine kinase which mediates actions of insulin-like growth factor 1 (IGF1). Binds IGF1 with high affinity and IGF2 and insulin (INS) with a lower affinity. The activated IGF1R is involved in cell growth and survival control. IGF1R is crucial for tumor transformation and survival of malignant cell. Ligand binding activates the receptor kinase, leading to receptor autophosphorylation, and tyrosines phosphorylation of multiple substrates, that function as signaling adapter proteins including, the insulin-receptor substrates (IRS1/2), Shc and 14-3-3 proteins. Phosphorylation of IRSs proteins lead to the activation of two main signaling pathways: the PI3K-AKT/PKB pathway and the Ras-MAPK pathway. The result of activating the MAPK pathway is increased cellular proliferation, whereas activating the PI3K pathway inhibits apoptosis and stimulates protein synthesis. Phosphorylated IRS1 can activate the 85 kDa regulatory subunit of PI3K (PIK3R1), leading to activation of several downstream substrates, including protein AKT/PKB. AKT phosphorylation, in turn, enhances protein synthesis through mTOR activation and triggers the antiapoptotic effects of IGFIR through phosphorylation and inactivation of BAD. In parallel to PI3K-driven signaling, recruitment of Grb2/SOS by phosphorylated IRS1 or Shc leads to recruitment of Ras and activation of the ras-MAPK pathway. In addition to these two main signaling pathways IGF1R signals also through the Janus kinase/signal transducer and activator of transcription pathway (JAK/STAT). Phosphorylation of JAK proteins can lead to phosphorylation/activation of signal transducers and activators of transcription (STAT) proteins. In particular activation of STAT3, may be essential for the transforming activity of IGF1R. The JAK/STAT pathway activates gene transcription and may be responsible for the transforming activity. JNK kinases can also be activated by the IGF1R. IGF1 exerts inhibiting activities on JNK activation via phosphorylation and inhibition of MAP3K5/ASK1, which is able to directly associate with the IGF1R., [UniProtKB]; TSHR-IGF-IR complex drives orbital fibroblast misbehavior in thyroid eye disease. Review article, [RefSeq, PubMed]; This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]., [RefSeq]; When present in a hybrid receptor with INSR, binds IGF1. PubMed:12138094 shows that hybrid receptors composed of IGF1R and INSR isoform Long are activated with a high affinity by IGF1, with low affinity by IGF2 and not significantly activated by insulin, and that hybrid receptors composed of IGF1R and INSR isoform Short are activated by IGF1, IGF2 and insulin. In contrast, PubMed:16831875 shows that hybrid receptors composed of IGF1R and INSR isoform Long and hybrid receptors composed of IGF1R and INSR isoform Short have similar binding characteristics, both bind IGF1 and have a low affinity for insulin., [UniProtKB]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "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": 8, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 14, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 14, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 26, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 128, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 22, "disease_count": 55, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "B1B5Y2;Q14CV2;Q9UCC0", "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": "3.4.24.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.24", "type": "external" }, { "id": "3.4.24.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.17", "type": "external" }, { "id": "3.4.24.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.1.32", "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:0005009 insulin receptor activity;GO:0004713 protein tyrosine kinase activity;GO:0005158 insulin receptor binding;GO:0005524 ATP binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0035867 alphav-beta3 integrin-IGF-1-IGF1R complex;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon;GO:0043235 receptor complex", "go_biological_process": "GO:0006955 immune response;GO:0007165 signal transduction;GO:0008284 positive regulation of cell population proliferation;GO:0030335 positive regulation of cell migration;GO:0038083 peptidyl-tyrosine autophosphorylation", "synthesized_glycan_count": 0, "hit_score": 26.4, "record_id": "P08069-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100100010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99523-1", "uniprot_id": [ { "id": "SORT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99523", "type": "external" } ], "mass": 92068.0, "length": 831, "protein_name": "Sortilin", "gene_name": "SORT1", "organism": "Human", "refseq_name": "sortilin isoform 2", "refseq_ac": [ { "id": "NP_001192157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192157", "type": "external" } ], "gene_names_uniprotkb": "SORT1", "gene_names_refseq": "Gp95; LDLCQ6; NT3; NTR3; SORT1", "protein_names_uniprotkb": "Sortilin; 100 kDa NT receptor; Glycoprotein 95; Gp95; NT3; NTR3; Neurotensin receptor 3", "protein_names_refseq": "100 kDa NT receptor; glycoprotein 95; neurotensin receptor 3; sortilin isoform 2", "tax_id": 9606, "disease": "abdominal aortic aneurysm (Disease Ontology:DOID:7693)", "pathway": " (hsa:6272); (R-HSA-432722)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "10.1101/2023.09.13.557529;10085125;10394364;11237011;11331584;11390366;11590181;11604418;11694590;11859376;11994746;12209882;12419319;12598608;14657016;14985763;15102850;15313463;15364913;15930396;15987945;16155256;16263699;16787399;17116749;18088087;18669648;18817523;19122660;19349973;19651622;20015111;20048080;20068231;20686565;20686566;21092856;21102451;21406692;22431521;23090970;23186163;24190977;24715725;24838608;24986865;25502872;25576301;26154972;27397612;27862975;28228285;28467828;28832583;29242379;29314611;29557506;29741879;30429286;30779550;30833945;31020640;31154438;31611695;31844290;31848261;32125861;32157095;32350084;32387766;32488085;32938616;32983136;33043033;33592498;33691108;33936100;33968037;34087483;34171305;34725712;35051231;35154160;35251023;35580925;36010968;36241641;37074911;38095557;38339069;38694940;39382416;40914422;8374173;8524399;8670264;9013611;9657377;9756851;9927419", "class_list": "", "function": "Diagnostic utility of sortilin & other biomarkers in the diagnosis of carotid & coronary atherosclerosis in individuals with arterial hypertension., [RefSeq, PubMed]; Elevated sortilin expression discriminates functional from non-functional neuroendocrine tumors and enables therapeutic targeting. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a sorting receptor in the Golgi compartment and as a clearance receptor on the cell surface. Required for protein transport from the Golgi apparatus to the lysosomes by a pathway that is independent of the mannose-6-phosphate receptor (M6PR). Lysosomal proteins bind specifically to the receptor in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelysosomal compartment where the low pH mediates the dissociation of the complex (PubMed:16787399). The receptor is then recycled back to the Golgi for another round of trafficking through its binding to the retromer. Also required for protein transport from the Golgi apparatus to the endosomes. Promotes neuronal apoptosis by mediating endocytosis of the proapoptotic precursor forms of BDNF (proBDNF) and NGFB (proNGFB). Also acts as a receptor for neurotensin. May promote mineralization of the extracellular matrix during osteogenic differentiation by scavenging extracellular LPL. Probably required in adipocytes for the formation of specialized storage vesicles containing the glucose transporter SLC2A4/GLUT4 (GLUT4 storage vesicles, or GSVs). These vesicles provide a stable pool of SLC2A4 and confer increased responsiveness to insulin. May also mediate transport from the endoplasmic reticulum to the Golgi., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Sortilin Expression Levels and Peripheral Immunity: A Potential Biomarker for Segregation between Parkinson's Disease Patients and Healthy Controls. Publication Status: Online-Only, [RefSeq, PubMed]; The association of Sort1 expression with LDL subfraction and inflammation in patients with coronary artery disease., [RefSeq, PubMed]; This article describes the molecular mechanisms of sortilin action in protein sorting and signaling and how modulation of receptor function may offer therapeutic strategies for treatment of diseases of the cardiovascular and nervous systems. [review] Review article, [RefSeq, PubMed]; This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [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": 8, "reported_o_glycosites": 0, "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": 8, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 8, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 71, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B4DWI3;C0JYZ0;Q8IZ49", "ec_number_list": [], "go_molecular_function": "GO:0048406 nerve growth factor binding;GO:0019899 enzyme binding;GO:0030379 neurotensin receptor activity, non-G protein-coupled;GO:0010465 nerve growth factor receptor activity;GO:1905394 retromer complex binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit", "go_biological_process": "GO:0006897 endocytosis;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0015031 protein transport;GO:0008333 endosome to lysosome transport", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "Q99523-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51610-1", "uniprot_id": [ { "id": "HCFC1_HUMAN", "url": "https://www.uniprot.org/uniprot/P51610", "type": "external" } ], "mass": 208732.0, "length": 2035, "protein_name": "Host cell factor 1", "gene_name": "HCFC1", "organism": "Human", "refseq_name": "host cell factor 1 isoform 2", "refseq_ac": [ { "id": "NP_005325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005325", "type": "external" } ], "gene_names_uniprotkb": "HCFC1; HCF1; HFC1", "gene_names_refseq": "CFF; HCF-1; HCF1; HCFC1; HCF; HFC1; MAHCX; MRX3; PPP1R89; VCAF; XLID3", "protein_names_uniprotkb": "Host cell factor 1; C1 factor; CFF; HCF-1; HCF; VCAF; VP16 accessory protein", "protein_names_refseq": "VP16-accessory protein; host cell factor 1 isoform 2; host cell factor 1; protein phosphatase 1, regulatory subunit 89", "tax_id": 9606, "disease": "methylmalonic acidemia and homocysteinemia cblX type (Disease Ontology:DOID:0111814); congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:3054); (R-HSA-2151201); (R-HSA-3214847); (R-HSA-5689603); (R-HSA-9772755)", "pathway_count": 5, "publication_count": 288, "publication_id_list": "10412986;10623756;10629049;10643692;10675337;10713165;10779346;10786633;10821277;10871379;10920196;10976766;10984507;11237011;11340167;11809803;12235138;12244100;12374852;12393701;12482972;12563009;12670868;12745923;14532282;14636557;14992727;15190068;15199122;15313887;15684387;15705566;15960975;16079181;16079853;16227571;16239140;16387653;16624878;16788062;16829959;16878130;16890199;16892064;16906146;16908542;16911507;16964243;17031457;17139257;17322306;17355966;17437997;17500065;17578910;17612494;17671196;17715127;17923681;17924679;17925232;17998332;18215119;18343819;18381289;18452278;18497827;18598942;18623064;18669648;18680753;18691976;18767875;18829457;18829459;18838386;18838538;19001277;19103755;19124460;19131338;19187761;19187765;19188440;19356719;19377461;19413330;19415658;19417006;19556245;19608861;19651622;19664994;19664995;19690332;19691289;19815555;19951946;20018852;20068230;20068231;20200153;20436459;20575550;20716525;20805357;20961854;21106533;21124902;21131905;21135039;21158410;21220120;21285374;21406692;21606357;21740066;22223895;22266653;22327296;22652693;22661428;22665483;23000143;23186163;23301498;23335398;23353889;23481700;23508102;23629655;23995757;24129315;24244196;24275569;24368734;24680668;24714562;24715725;2530630;25418920;25505266;25561738;25576301;25593305;25645385;25892735;26154972;26305326;26324722;26416877;26728094;26886794;26992070;27114449;27397612;27563068;27698142;27760318;27846572;27862975;27920218;28182322;28218747;28228285;28302723;28398509;28446606;28514659;28584052;28604694;28649982;28657654;28832583;28834231;28904123;29138278;29237092;29242379;29249144;29351928;29393594;29493099;29508533;29557506;29632711;29786170;29789417;29897600;29937342;30059200;30315122;30379171;30429286;30524438;30620550;30664650;31217245;31373491;31400120;31485071;31492838;31544921;31637018;31844290;31905202;32157095;32350084;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33097698;33141586;33298915;33392160;33465208;33517344;33592498;33633747;33657400;33691108;33717175;33912179;33936100;33968037;33981976;34012049;34087483;34105348;34171305;34185709;34211107;34405274;34509645;34561969;34846842;34932366;34933446;35033534;35051231;35132862;35190547;35251023;35254053;35289036;35318648;35439434;35513511;35580925;35705054;36010968;36215666;36240223;36241641;36284347;37264743;37541260;37938771;38838015;38956580;39302247;39531497;39534244;40307207;7590226;7629110;7799916;7829097;7876203;8108407;8333869;8392914;9178750;9271389;9286700;9389645;9427644;9528852;9558366;9790970;9880483;9990006", "class_list": "", "function": "(Microbial infection) In case of human herpes simplex virus (HSV) infection, HCFC1 forms a multiprotein-DNA complex with the viral transactivator protein VP16 and POU2F1 thereby enabling the transcription of the viral immediate early genes., [UniProtKB, PubMed, PubMed]; HCF-1 promotes cell cycle progression by regulating the expression of CDC42. Publication Status: Online-Only, [RefSeq, PubMed]; HCFC1 variants in the proteolysis domain are associated with X-linked idiopathic partial epilepsy: Exploring the underlying mechanism., [RefSeq, PubMed]; Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients., [RefSeq, PubMed]; This gene is a member of the host cell factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each of which contains a highly specific cleavage signal. This nuclear coactivator is proteolytically cleaved at one of the six possible sites, resulting in the creation of an N-terminal chain and the corresponding C-terminal chain. The final form of this protein consists of noncovalently bound N- and C-terminal chains. The protein is involved in control of the cell cycle and transcriptional regulation during herpes simplex virus infection. 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]; Transcriptional coregulator (By similarity). Serves as a scaffold protein, bridging interactions between transcription factors, including THAP11 and ZNF143, and transcriptional coregulators (PubMed:26416877). Involved in control of the cell cycle (PubMed:10629049, PubMed:10779346, PubMed:15190068, PubMed:16624878, PubMed:23629655). Also antagonizes transactivation by ZBTB17 and GABP2; represses ZBTB17 activation of the p15(INK4b) promoter and inhibits its ability to recruit p300 (PubMed:10675337, PubMed:12244100). Coactivator for EGR2 and GABP2 (PubMed:12244100, PubMed:14532282). Tethers the chromatin modifying Set1/Ash2 histone H3 'Lys-4' methyltransferase (H3K4me) and Sin3 histone deacetylase (HDAC) complexes (involved in the activation and repression of transcription, respectively) together (PubMed:12670868). Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1 (PubMed:20200153). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues (PubMed:20018852). Recruits KMT2E/MLL5 to E2F1 responsive promoters promoting transcriptional activation and thereby facilitates G1 to S phase transition (PubMed:23629655). Modulates expression of homeobox protein PDX1, perhaps acting in concert with transcription factor E2F1, thereby regulating pancreatic beta-cell growth and glucose-stimulated insulin secretion (By similarity). May negatively modulate transcriptional activity of FOXO3 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families. 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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 209, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 209, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 209, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 38, "reported_mutagensis": 45, "reported_glycation": 0, "reported_snv": 170, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 209, "binding_glycan_count": 0, "secondary_ac_list": "Q6P4G5", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0043025 neuronal cell body", "go_biological_process": "GO:0019046 release from viral latency;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0010628 positive regulation of gene expression;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 50.0, "record_id": "P51610-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P32242-1", "uniprot_id": [ { "id": "OTX1_HUMAN", "url": "https://www.uniprot.org/uniprot/P32242", "type": "external" } ], "mass": 37327.0, "length": 354, "protein_name": "Homeobox protein OTX1", "gene_name": "OTX1", "organism": "Human", "refseq_name": "homeobox protein OTX1", "refseq_ac": [ { "id": "NP_001186699", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186699", "type": "external" } ], "gene_names_uniprotkb": "OTX1", "gene_names_refseq": "OTX1", "protein_names_uniprotkb": "Homeobox protein OTX1; Orthodenticle homolog 1", "protein_names_refseq": "homeobox protein OTX1; orthodenticle homolog 1", "tax_id": 9606, "disease": "retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:5013)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;11901358;19414065;25772364;28904123;31217245;31844290;32387766;33392160;33912179;34019948;34509645;34932366;35051231;35474406;36093844;36177903;38218040;8101484", "class_list": "", "function": "Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus candidate gene, [RefSeq, PubMed]; Knockdown of circMYOF inhibits cell growth, metastasis, and glycolysis through miR-145-5p/OTX1 regulatory axis in laryngeal squamous cell carcinoma., [RefSeq, PubMed]; MiR-195-5p suppresses gastric adenocarcinoma cell progression via targeting OTX1., [RefSeq, PubMed]; OTX1 promotes tumorigenesis and progression of cervical cancer by regulating the Wnt signaling pathway., [RefSeq, PubMed]; OTX1 regulates tumorigenesis and metastasis in glioma., [RefSeq, PubMed]; Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS): 5'-TCTAATCCC-3'., [UniProtKB]; This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar protein in mouse is required for proper brain and sensory organ development and can cause epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]., [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": 1, "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": "A6NHA2;B3KTJ4;Q53TG6", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0030901 midbrain development", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "P32242-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95644-1", "uniprot_id": [ { "id": "NFAC1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95644", "type": "external" } ], "mass": 101243.0, "length": 943, "protein_name": "Nuclear factor of activated T-cells, cytoplasmic 1", "gene_name": "NFATC1", "organism": "Human", "refseq_name": "nuclear factor of activated T-cells, cytoplasmic 1 isoform J", "refseq_ac": [ { "id": "NP_001265602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265602", "type": "external" } ], "gene_names_uniprotkb": "NFATC1; NFAT2; NFATC", "gene_names_refseq": "NF-ATC; NF-ATc1.2; NFAT2; NFATC1; NFATc", "protein_names_uniprotkb": "Nuclear factor of activated T-cells, cytoplasmic 1; NF-ATc1; NF-ATc; NFAT transcription complex cytosolic component; NFATc1; NFATc", "protein_names_refseq": "NFAT transcription complex cytosolic component; nuclear factor of activated T-cells 'c'; nuclear factor of activated T-cells, cytoplasmic 1 isoform J; nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1", "tax_id": 9606, "disease": "ventricular septal defect (Disease Ontology:DOID:1657); congenital heart disease (Disease Ontology:DOID:1682); aortic valve stenosis (Disease Ontology:DOID:1712); kidney disease (Disease Ontology:DOID:557); osteoarthritis (Disease Ontology:DOID:8398)", "pathway": " (hsa:4772); (R-HSA-2025928); (R-HSA-2871809); (R-HSA-4086398); (R-HSA-5607763); (R-HSA-9942503)", "pathway_count": 6, "publication_count": 153, "publication_id_list": "10072078;10089876;10358178;10380924;10391246;10391247;10395542;10488343;10588714;10652349;10777564;10858654;10860980;10866678;11015615;11015619;11030334;11231878;11237011;11395409;11563835;12015605;12086864;12351631;12471263;12482967;12556497;12573241;12729560;12975316;14704854;14977528;15494017;15545263;15611108;16511445;16880514;16920709;16959974;1715244;17426020;17502104;17684012;17882263;18218901;18296442;18456304;18488142;18675896;19177143;19536106;19851316;21118996;21903638;22941947;23151663;23186163;23256519;23416699;23481700;23632248;23904219;2445721;24715725;24863062;25576301;25645385;25880248;26154972;26590425;26811146;26992070;27397612;27600516;27846572;27862975;27920218;28218747;28228285;28235034;2841328;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29786170;30294901;30315122;30379171;30410026;30429286;30524438;31154438;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33691108;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34405274;34509645;34531288;34932366;35051231;35580925;36010968;36241641;36284347;37535148;37758852;37814550;37957146;38310228;7518558;7657645;8202141;8576111;8629002;8630736;8631904;8684469;8702849;8799126;8990122;9072970;9073455;9106655;9111316;9312192;9389482;9506523;9727000", "class_list": "", "function": "Clinical value of echocardiography combined with serum Cav-1, NFATc1, and PAI-1 in the diagnosis of Kawasaki disease complicated with coronary artery lesions., [RefSeq, PubMed]; Exosome-targeted delivery of METTL14 regulates NFATc1 m6A methylation levels to correct osteoclast-induced bone resorption. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 or IL-4 gene transcription. Also controls gene expression in embryonic cardiac cells. Could regulate not only the activation and proliferation but also the differentiation and programmed death of T-lymphocytes as well as lymphoid and non-lymphoid cells (PubMed:10358178). Required for osteoclastogenesis and regulates many genes important for osteoclast differentiation and function (By similarity)., [UniProtKB, UniProtKB, PubMed]; Recent advances of NFATc1 in rheumatoid arthritis-related bone destruction: mechanisms and potential therapeutic targets. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013]., [RefSeq]; The role of NFATc1 in the progression and metastasis of prostate cancer: A review on the molecular mechanisms and signaling pathways. Review article, [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 24, "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": "B5B2M4;B5B2M5;B5B2M6;B5B2M7;B5B2M8;B5B2M9;B5B2N1;Q12865;Q15793;Q2M1S3", "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:0030346 protein phosphatase 2B binding;GO:0048273 mitogen-activated protein kinase p38 binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016604 nuclear body", "go_biological_process": "GO:1905064 negative regulation of vascular associated smooth muscle cell differentiation;GO:0006351 DNA-templated transcription;GO:0035556 intracellular signal transduction;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0050728 negative regulation of inflammatory response", "synthesized_glycan_count": 0, "hit_score": 15.6, "record_id": "O95644-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53567-1", "uniprot_id": [ { "id": "CEBPG_HUMAN", "url": "https://www.uniprot.org/uniprot/P53567", "type": "external" } ], "mass": 16408.0, "length": 150, "protein_name": "CCAAT/enhancer-binding protein gamma", "gene_name": "CEBPG", "organism": "Human", "refseq_name": "CCAAT/enhancer-binding protein gamma", "refseq_ac": [ { "id": "NP_001239225", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239225", "type": "external" } ], "gene_names_uniprotkb": "CEBPG", "gene_names_refseq": "CEBPG; GPE1BP; IG/EBP-1", "protein_names_uniprotkb": "CCAAT/enhancer-binding protein gamma; C/EBP gamma", "protein_names_refseq": "CCAAT/enhancer binding protein (C/EBP), gamma; CCAAT/enhancer-binding protein gamma; c/EBP gamma", "tax_id": 9606, "disease": "", "pathway": " (hsa:1054); (R-HSA-380994); (R-HSA-9633012); (R-HSA-9648895)", "pathway_count": 4, "publication_count": 66, "publication_id_list": "10958673;10982836;11018027;11163539;11241327;11677247;11691921;1400365;14630918;14742429;15385533;15775988;15781252;16026328;16687408;16912112;16931790;16989641;17140605;17267404;17726049;18055463;18285520;18840095;20022965;20068231;20361218;20423929;22802018;22819556;22978410;23269699;23876217;25931127;2663993;2664463;26758079;26992070;27526673;28814160;28832583;28904123;29242379;29413899;30804176;31844290;32357974;32387766;3260265;32786052;33298915;33592498;33968037;33981976;34171305;34509645;35580925;36010968;36215666;36241641;36284347;36675048;7665092;8336711;9153226;9211906", "class_list": "", "function": "C/EBP-Family Redundancy Determines Patient Survival and Lymph Node Involvement in PDAC. Publication Status: Online-Only, [RefSeq, PubMed]; C/EBPgamma is a critical negative regulator of LPS-/IgG immune complex-induced acute lung injury through the downregulation of C/EBPbeta-/C/EBPdelta-dependent C/EBP transcription activation., [RefSeq, PubMed]; The C/EBP family of transcription factors regulates viral and cellular CCAAT/enhancer element-mediated transcription. C/EBP proteins contain the bZIP region, which is characterized by two motifs in the C-terminal half of the protein: a basic region involved in DNA binding and a leucine zipper motif involved in dimerization. The C/EBP family consist of several related proteins, C/EBP alpha, C/EBP beta, C/EBP gamma, and C/EBP delta, that form homodimers and that form heterodimers with each other. CCAAT/enhancer binding protein gamma may cooperate with Fos to bind PRE-I enhancer elements. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]; Transcription factor that binds to the promoter and the enhancer regions of target genes. Binds to the enhancer element PRE-I (positive regulatory element-I) of the IL-4 gene (PubMed:7665092). Binds to the promoter and the enhancer of the immunoglobulin heavy chain. Binds to GPE1, a cis-acting element in the G-CSF gene promoter., [UniProtKB, UniProtKB, 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": 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": "B2R946;Q5U052", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0042802 identical protein binding;GO:0003714 transcription corepressor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0043353 enucleate erythrocyte differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001889 liver development;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "P53567-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02751-15", "uniprot_id": [ { "id": "FINC_HUMAN", "url": "https://www.uniprot.org/uniprot/P02751", "type": "external" } ], "mass": 272320.0, "length": 2477, "protein_name": "Fibronectin", "gene_name": "FN1", "organism": "Human", "refseq_name": "fibronectin isoform 7 preproprotein", "refseq_ac": [ { "id": "NP_473375", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_473375", "type": "external" } ], "gene_names_uniprotkb": "FN1; FN", "gene_names_refseq": "CIG; ED-B; FINC; FN1; FNZ; FN; GFND2; GFND; LETS; MSF; SMDCF", "protein_names_uniprotkb": "Fibronectin; CIG; Cold-insoluble globulin; FN", "protein_names_refseq": "cold-insoluble globulin; epididymis secretory sperm binding protein; fibronectin isoform 7 preproprotein; lnc-ABCA12-8; migration-stimulating factor", "tax_id": 9606, "disease": "calcium oxalate nephrolithiasis (Disease Ontology:DOID:0080652); Sturge-Weber syndrome (Disease Ontology:DOID:0111563); spondylometaphyseal dysplasia corner fracture type (Disease Ontology:DOID:0112297); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); diabetic angiopathy (Disease Ontology:DOID:11713); iron deficiency anemia (Disease Ontology:DOID:11758); submandibular gland disease (Disease Ontology:DOID:12897); VACTERL association (Disease Ontology:DOID:14679); renovascular hypertension (Disease Ontology:DOID:1591); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); glomerulonephritis (Disease Ontology:DOID:2921); IgA glomerulonephritis (Disease Ontology:DOID:2986); acute kidney failure (Disease Ontology:DOID:3021); renal cell carcinoma (Disease Ontology:DOID:4450); ureteral obstruction (Disease Ontology:DOID:5199); myocardial infarction (Disease Ontology:DOID:5844); end stage renal disease (Disease Ontology:DOID:783); osteoarthritis (Disease Ontology:DOID:8398); diabetes mellitus (Disease Ontology:DOID:9351); glomerulopathy with fibronectin deposits 2 (MONDO:MONDO:0011165)", "pathway": " (hsa:2335); (R-HSA-114608); (R-HSA-1474228); (R-HSA-1566977); (R-HSA-202733); (R-HSA-2129379); (R-HSA-216083); (R-HSA-3000170); (R-HSA-3000171); (R-HSA-3000178); (R-HSA-354192); (R-HSA-354194); (R-HSA-372708); (R-HSA-381426); (R-HSA-5674135); (R-HSA-6785807); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-8874081); (R-HSA-8957275); (R-HSA-9634597); (R-HSA-9638630); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9700645); (R-HSA-9725370); (R-HSA-9860927); (R-HSA-9925563)", "pathway_count": 30, "publication_count": 840, "publication_id_list": 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"class_list": "glycogene", "function": "Binds fibronectin and induces fibril formation. This fibronectin polymer, named superfibronectin, exhibits enhanced adhesive properties. Both anastellin and superfibronectin inhibit tumor growth, angiogenesis and metastasis. Anastellin activates p38 MAPK and inhibits lysophospholipid signaling., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Fibronectins bind cell surfaces and various compounds including collagen, fibrin, heparin, DNA, and actin (PubMed:3024962, PubMed:3593230, PubMed:3900070, PubMed:7989369). Fibronectins are involved in cell adhesion, cell motility, opsonization, wound healing, and maintenance of cell shape (PubMed:3024962, PubMed:3593230, PubMed:3900070, PubMed:7989369). Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process, essential for osteoblast mineralization (By similarity). Participates in the regulation of type I collagen deposition by osteoblasts (By similarity). Acts as a ligand for the LILRB4 receptor, inhibiting FCGR1A/CD64-mediated monocyte activation (PubMed:34089617)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; In Silico Insights Reveal Fibronectin 1 as a Theranostic Marker in Gastric Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Myocardin regulates fibronectin expression and secretion from human pleural mesothelial cells., [RefSeq, PubMed]; Rare genetic variation in fibronectin 1 (FN1) protects against APOEepsilon4 in Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; Secreted by contracting muscle, induces liver autophagy, a degradative pathway for nutrient mobilization and damage removal, and systemic insulin sensitization via hepatic ITGA5:ITGB1 integrin receptor signaling., [UniProtKB, UniProtKB]; The extracellular matrix protein fibronectin promotes metanephric kidney development., [RefSeq, PubMed]; This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. The encoded preproprotein is proteolytically processed to generate the mature protein. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. The full-length nature of some variants has not been determined. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "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": 11, "reported_o_glycosites": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 28, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 13, "total_reported_o_glycosites": 28, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 13, "total_o_glycosites": 29, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 7, "reported_phosphosites": 6, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 3033, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 275, "disease_count": 21, "glyco_site_count": 43, "binding_glycan_count": 0, "secondary_ac_list": "B7ZLF0;E9PE77;E9PG29;O95609;O95610;Q14312;Q14325;Q14326;Q17RV7;Q53S27;Q564H7;Q585T2;Q59EH1;Q60FE4;Q68DP8;Q68DP9;Q68DT4;Q6LDP6;Q6MZS0;Q6MZU5;Q6N025;Q6N0A6;Q7Z391;Q86T27;Q8IVI8;Q96KP7;Q96KP8;Q96KP9;Q9H1B8;Q9HAP3;Q9UMK2", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0005102 signaling receptor binding;GO:0005178 integrin binding;GO:0008201 heparin binding;GO:0016504 peptidase activator activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0031012 extracellular matrix", "go_biological_process": "GO:0071635 negative regulation of transforming growth factor beta production;GO:0051702 biological process involved in interaction with symbiont;GO:0048484 enteric nervous system development;GO:0007044 cell-substrate junction assembly;GO:1904237 positive regulation of substrate-dependent cell migration, cell attachment to substrate", "synthesized_glycan_count": 0, "hit_score": 115.7, "record_id": "P02751-15", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100110001001.111.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60609-1", "uniprot_id": [ { "id": "GFRA3_HUMAN", "url": "https://www.uniprot.org/uniprot/O60609", "type": "external" } ], "mass": 44511.0, "length": 400, "protein_name": "GDNF family receptor alpha-3", "gene_name": "GFRA3", "organism": "Human", "refseq_name": "GDNF family receptor alpha-3 preproprotein", "refseq_ac": [ { "id": "NP_001487", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001487", "type": "external" } ], "gene_names_uniprotkb": "GFRA3; PRO3664", "gene_names_refseq": "GDNFR3; GFRA3", "protein_names_uniprotkb": "GDNF family receptor alpha-3; GDNF receptor alpha-3; GDNFR-alpha-3; GFR-alpha-3", "protein_names_refseq": "GDNF family receptor alpha-3 preproprotein; GDNF receptor alpha-3; GDNFR-alpha-3; GFR-alpha-3; GPI-linked receptor; glial cell line-derived neurotrophic factor receptor alpha-3", "tax_id": 9606, "disease": "sciatic neuropathy (Disease Ontology:DOID:11446)", "pathway": " (hsa:2676); (R-HSA-5673001); (R-HSA-8853659)", "pathway_count": 3, "publication_count": 97, "publication_id_list": "10448070;10508167;10869344;10995764;11000521;11002419;11027663;11090077;11136978;11237011;11237712;11313946;11360177;11390647;11470823;11491658;11546808;11702783;11886862;12032311;12094235;12121613;12242309;12771945;12975309;14506247;14707138;14766744;15044950;15286081;15340161;15356145;1545823;15546878;15569713;16627759;16684964;16765900;1716764;17998941;18775330;1898771;19279408;19920141;20478380;21102635;21372320;21779497;21779505;21993244;22569528;22589270;22750304;23103841;23303910;23333276;23443682;23575685;24897931;24937142;25219551;25781681;26085527;26984265;28356515;28651425;28778966;30459171;31135801;31535977;6148751;7665556;7809086;7935463;7972015;8052307;8394845;8493579;8628282;8631863;8637703;8662982;8663426;8665852;8674117;8710374;8939933;9047384;9192684;9299438;9407096;9491986;9576965;9604935;9764818;9883723;9927426", "class_list": "", "function": "Increased GFRalpha3 expression is significantly correlated with poor prognosis of patients with urothelial carcinoma, [RefSeq, PubMed]; Mir-34a directly regulates GFRA3 via its coding region.GFRA3 is crucial for breast cancer growth., [RefSeq, PubMed]; Receptor for artemin (ARTN), a growth factor that supports the survival of sensory and sympathetic peripheral neurons (PubMed:31535977, PubMed:9883723). ARTN-binding leads to autophosphorylation and activation of the RET receptor (PubMed:31535977, PubMed:9883723)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The GFRA3 promoter region showed marked hypermethylation in almost all tumors, and its correlation with survival and other clinicopathological parameters may have important prognostic significance. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor and a member of the GDNF receptor family. It forms a signaling receptor complex with RET tyrosine kinase receptor and binds the ligand, artemin. [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": 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": 17, "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": "B2RA36;B4DMY9;Q6UW20;Q8IUZ2", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0038023 signaling receptor activity;GO:0016167 glial cell-derived neurotrophic factor receptor activity;GO:0008046 axon guidance receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0009897 external side of plasma membrane;GO:0019898 extrinsic component of membrane;GO:0098552 side of membrane", "go_biological_process": "GO:0035860 glial cell-derived neurotrophic factor receptor signaling pathway;GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0007422 peripheral nervous system development", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "O60609-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z3Y8-1", "uniprot_id": [ { "id": "K1C27_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z3Y8", "type": "external" } ], "mass": 49822.0, "length": 459, "protein_name": "Keratin, type I cytoskeletal 27", "gene_name": "KRT27", "organism": "Human", "refseq_name": "keratin, type I cytoskeletal 27", "refseq_ac": [ { "id": "NP_853515", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_853515", "type": "external" } ], "gene_names_uniprotkb": "KRT27; KRT25C", "gene_names_refseq": "K25IRS3; KRT25C; KRT27", "protein_names_uniprotkb": "Keratin, type I cytoskeletal 27; CK-27; Cytokeratin-27; K25C; K27; Keratin-25C; Keratin-27; Type I inner root sheath-specific keratin-K25irs3", "protein_names_refseq": "CK-27; K25C; K27; cytokeratin-27; keratin 27, type I; keratin, type I cytoskeletal 27; keratin-25C; type I inner root sheath specific keratin 25 irs3; type I inner root sheath-specific keratin-K25irs3", "tax_id": 9606, "disease": "", "pathway": " (hsa:342574); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 59, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15373777;15617563;15797384;15803139;16061697;16382671;16639001;16874310;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23629652;2414304;24366607;25208914;25645385;25926655;26390218;28218747;29393594;29557506;29786170;34171305;35051231;37217939;38665916;7543090;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs)., [UniProtKB, UniProtKB]; This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, 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": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0070062 extracellular exosome;GO:0045095 keratin filament", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0045109 intermediate filament organization;GO:0031069 hair follicle morphogenesis;GO:0002009 morphogenesis of an epithelium", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q7Z3Y8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13387-1", "uniprot_id": [ { "id": "JIP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13387", "type": "external" } ], "mass": 87975.0, "length": 824, "protein_name": "C-Jun-amino-terminal kinase-interacting protein 2", "gene_name": "MAPK8IP2", "organism": "Human", "refseq_name": "C-Jun-amino-terminal kinase-interacting protein 2", "refseq_ac": [ { "id": "NP_036456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036456", "type": "external" } ], "gene_names_uniprotkb": "MAPK8IP2; IB2; JIP2; PRKM8IPL", "gene_names_refseq": "IB-2; IB2; JIP2; MAPK8IP2; PRKM8IPL", "protein_names_uniprotkb": "C-Jun-amino-terminal kinase-interacting protein 2; IB-2; Islet-brain-2; JIP-2; JNK MAP kinase scaffold protein 2; JNK-interacting protein 2; Mitogen-activated protein kinase 8-interacting protein 2", "protein_names_refseq": "C-Jun-amino-terminal kinase-interacting protein 2; JNK MAP kinase scaffold protein 2; JNK MAP kinase scaffold protein JIP2; JNK-interacting protein 2; homologous to mouse JIP-1; islet-brain 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23542)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10490659;10756100;11378392;17547437;25576301;26375851;30315122;30429286;30484775;31844290;32157095;32502341;32938616;35051231;35494241;39013462", "class_list": "", "function": "Structural basis of homodimerization of the JNK scaffold protein JIP2 and its heterodimerization with JIP1., [RefSeq, PubMed]; The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. JIP2 inhibits IL1 beta-induced apoptosis in insulin-secreting cells. May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins (By similarity)., [UniProtKB]; This gene encodes a scaffold protein that is thought to be involved in the regulation of the c-Jun amino-terminal kinase signaling pathway. This protein has been shown to interact with and regulate the activity of MAPK8/JNK1 and MAP2K7/MKK7 kinases. [provided by RefSeq, Jun 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": 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": "Q96G62;Q99771;Q9NZ59;Q9UKQ4", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0001540 amyloid-beta binding;GO:0030295 protein kinase activator activity;GO:0005198 structural molecule activity;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0014069 postsynaptic density;GO:0043025 neuronal cell body;GO:0032991 protein-containing complex", "go_biological_process": "GO:0046958 nonassociative learning;GO:0007617 mating behavior;GO:0098815 modulation of excitatory postsynaptic potential;GO:0000165 MAPK cascade;GO:0007254 JNK cascade", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q13387-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y496-1", "uniprot_id": [ { "id": "KIF3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y496", "type": "external" } ], "mass": 80041.0, "length": 699, "protein_name": "Kinesin-like protein KIF3A", "gene_name": "KIF3A", "organism": "Human", "refseq_name": "kinesin-like protein KIF3A isoform 3", "refseq_ac": [ { "id": "NP_008985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008985", "type": "external" } ], "gene_names_uniprotkb": "KIF3A; KIF3", "gene_names_refseq": "FLA10; KIF3A; KLP-20", "protein_names_uniprotkb": "Kinesin-like protein KIF3A; 3.6.4.-; Microtubule plus end-directed kinesin motor 3A", "protein_names_refseq": "kinesin family protein 3A; kinesin-like protein KIF3A isoform 3; kinesin-like protein KIF3A; microtubule plus end-directed kinesin motor 3A", "tax_id": 9606, "disease": "polycystic kidney disease (Disease Ontology:DOID:0080322); silicosis (Disease Ontology:DOID:10325); allergic disease (Disease Ontology:DOID:1205); dysostosis (Disease Ontology:DOID:1934); asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:11127); (R-HSA-1445148); (R-HSA-2132295); (R-HSA-5610787); (R-HSA-5620924); (R-HSA-5635838); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 8, "publication_count": 379, "publication_id_list": "10036229;10052452;10064083;10069812;10072072;10318838;10445031;10480952;10540230;10548469;10559959;10593899;10631941;10631952;10639150;10748235;10761932;10809954;10921873;10966113;11172815;11237011;11285270;11375483;11493604;11529500;11684289;11689559;11703931;11726511;11739780;11748249;11782313;11790530;11813165;11853874;12047556;12070132;12078484;12192414;12198549;12368902;12435627;12742663;12748383;12795688;1406973;14504276;14603322;14614827;14636583;14654841;14731593;15029241;15037235;15087129;15231740;15269286;15272311;15326200;15345747;15489852;15523559;15616190;15618519;15632110;15691767;15749704;15813748;15911768;15919790;15930098;15955805;15971998;16030262;16049494;16061793;1607388;16136078;16181339;16229832;16242130;16254602;16262723;1631136;16311594;16339192;16396903;16435301;16492809;16493421;16571679;16618111;16630821;16633337;16707575;16775004;16782012;1680566;16824007;16880201;16908539;16912714;16926190;16940185;17027958;17113389;17142755;17200122;17253781;17283181;17312020;17314406;17346968;17360540;17369524;17429068;17442700;17451557;17538014;17553904;17574030;17641202;17760859;17762891;17927562;17956946;17960137;17995453;18046453;18180368;18182008;18287528;18292509;18304522;18327258;18342609;18364699;18369462;18452278;18455992;18497258;18524849;18669648;18809720;18815277;18832070;18852297;1898986;19000668;19013499;19015319;19109418;19112494;19116309;19147001;19151722;19164740;19196978;19218434;19223390;19252894;19253336;19286674;19338388;19365551;19369418;19384852;19450523;19549984;1956401;19564404;1957170;19592253;19631211;19666503;19720863;19758564;19767740;19776033;19805633;19877275;19906846;19934039;19948480;19996169;20005805;20067783;20068231;20136777;20154143;20207148;20357002;20395968;20412786;20427317;20435895;20460306;20462495;20526327;20526328;20530210;20534429;20631154;20637885;20643351;20701589;20837646;20844016;20889716;20937701;20956384;2105456;21116285;21209331;2121367;21219331;21356043;2142332;21427764;21441454;21454505;21454690;21550981;21659505;21689688;21695114;21801010;21844168;2190094;21907143;21936775;22007132;22013193;22094269;22118932;22231273;22261744;22277298;22304919;22391300;22922713;22981989;22986504;22992454;23026747;23209152;23332756;23386061;23396477;23481700;23719536;23877428;2391366;23945166;23990561;24140113;24296415;24302888;24339784;24582806;24596149;24616010;24845016;24863049;24917297;24925320;24952464;25205765;2521221;2522352;25349261;25364732;25436559;25443296;25492864;2550440;25576301;25645385;25878107;26992070;27072130;27600516;28832583;28904123;29242379;29493099;29557506;30315122;30620550;3130248;3134048;31844290;32157095;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34405274;34509645;34932366;35051231;35561310;35580925;36215666;36241641;36594221;37715417;37938771;38489970;38919020;7481823;7528108;7539720;7592972;7650016;7667286;7822426;7844144;7929562;8001155;8046351;8094051;8128252;8132710;8134367;8145819;8148318;8221884;8253837;8313912;8397411;8415765;8505331;8516294;8522608;8548803;8599929;8602245;8620540;8642258;8664345;8687433;8849454;8909537;8939989;8947036;9075930;9114004;9114011;9177194;9202021;9244307;9288971;9311912;9312039;9405360;9497313;9539769;9545226;9585416;9585417;9606180;9751720;9852153;9990005", "class_list": "", "function": "CircRAPGEF5 sponges miR-582-3p and targets KIF3A to regulate bladder cancer cell proliferation, migration and invasion., [RefSeq, PubMed]; Inhibitory mechanism of KIF3A gene on nasopharyngeal carcinoma stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; Kinesin family member 3A induces related diseases via wingless-related integration site/beta-catenin signaling pathway. Review article, [RefSeq, PubMed]; Microtubule-based anterograde translocator for membranous organelles, such as primary cilium and centriole. Shows a plus end-directed microtubule sliding activity in vitro. Plays a role in primary cilia formation, probably by mediating transport of proteins into primary cilia. Mediates smoothened (SMO) translocation into primary cilia in response to hedgehog morphogens. Plays a role in centriole cohesion and subdistal appendage organization and function. Regulates the formation of the subdistal appendage via recruitment of DCTN1 to the centriole. Also required for ciliary basal feet formation and microtubule anchoring to mother centriole., [UniProtKB, UniProtKB]; Microtubule-based anterograde translocator for membranous organelles. Plus end-directed microtubule sliding activity in vitro. Plays a role in primary cilia formation. Plays a role in centriole cohesion and subdistal appendage organization and function. Regulates the formation of the subdistal appendage via recruitment of DCTN1 to the centriole. Also required for ciliary basal feet formation and microtubule anchoring to mother centriole., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The heterotrimeric kinesin-2 family member KIF3A directly binds to disabled-1 (Dab1)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "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": "A8MSW9;Q59EN1;Q86XE9;Q9Y6V4", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "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": "3.6.4.13", "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": "5.6.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.3", "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": "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": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "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": "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": "2.7.11.1", "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:0005524 ATP binding;GO:0008017 microtubule binding;GO:0016887 ATP hydrolysis activity;GO:0030507 spectrin binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule;GO:0005929 cilium", "go_biological_process": "GO:0015031 protein transport;GO:0060271 cilium assembly;GO:0008089 anterograde axonal transport;GO:0072383 plus-end-directed vesicle transport along microtubule;GO:0006996 organelle organization", "synthesized_glycan_count": 0, "hit_score": 38.3, "record_id": "Q9Y496-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15066-1", "uniprot_id": [ { "id": "KIF3B_HUMAN", "url": "https://www.uniprot.org/uniprot/O15066", "type": "external" } ], "mass": 85125.0, "length": 747, "protein_name": "Kinesin-like protein KIF3B", "gene_name": "KIF3B", "organism": "Human", "refseq_name": "kinesin-like protein KIF3B", "refseq_ac": [ { "id": "NP_004789", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004789", "type": "external" } ], "gene_names_uniprotkb": "KIF3B; KIAA0359", "gene_names_refseq": "FLA8; HH0048; KIF3B; KLP-11; OTSC12; RP89", "protein_names_uniprotkb": "Kinesin-like protein KIF3B; HH0048; Microtubule plus end-directed kinesin motor 3B", "protein_names_refseq": "kinesin-like protein KIF3B; microtubule plus end-directed kinesin motor 3B", "tax_id": 9606, "disease": "chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515); retinitis pigmentosa 89 (Disease Ontology:DOID:0112146); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:9371); (R-HSA-1445148); (R-HSA-2132295); (R-HSA-5620924); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 6, "publication_count": 294, "publication_id_list": "10036229;10052452;10064083;10069812;10072072;10318838;10445031;10480952;10540230;10559959;10593899;10631941;10631952;10639150;10748235;10761932;10809954;10921873;11172815;11285270;11493604;11529500;11684289;11689559;11703931;11726511;11739780;11748249;11782313;11790530;11813165;11853874;12047556;12070132;12078484;12198549;12368902;12742663;12748383;12795688;1406973;14504276;14654841;14731593;15029241;15037235;15231740;15269286;15272311;15326200;15489852;15523559;15616190;15632110;15749704;15813748;15911768;15919790;15955805;15971998;16030262;16049494;1607388;16181339;16242130;16262723;1631136;16435301;16492809;16571679;16618111;16633337;16775004;16782012;1680566;16824007;16880201;16912714;16926190;16940185;17113389;17142755;17253781;17283181;17312020;17314406;17346968;17360540;17369524;17429068;17451557;17538014;17574030;17760859;17927562;17956946;17995453;18046453;18180368;18182008;18287528;18292509;18304522;18342609;18364699;18369462;18452278;18524849;18669648;18809720;18852297;1898986;19013499;19015319;19109418;19112494;19116309;19147001;19151722;19164740;19252894;19253336;19338388;19369418;19384852;19450523;1956401;19564404;1957170;19631211;19720863;19758564;19805633;20005805;20136777;20357002;20427317;20435895;20462495;20526327;20526328;20530210;20534429;20631154;20637885;20701589;20837646;20889716;20937701;21116285;2121367;21219331;2142332;21427764;21441454;21454505;21454690;21550981;21689688;21844168;2190094;21907143;21936775;22013193;22094269;22118932;22304919;22922713;22992454;23396477;23481700;2391366;23945166;23990561;24140113;24296415;24596149;24616010;24714562;25205765;2521221;2522352;25349261;25364732;25436559;25443296;25492864;2550440;25576301;25645385;26154972;27072130;27846572;27920218;28228285;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29769354;30315122;30429286;30484775;30779550;30833945;31154438;3130248;3134048;31530632;31844290;32157095;32161166;32350084;32357974;32386558;32387766;32938616;33141586;33153390;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34185709;34357683;34509645;34918036;35051231;35580925;36010968;36241641;37938771;7481823;7528108;7539720;7592972;7650016;7667286;7822426;7844144;7929562;8001155;8046351;8094051;8128252;8132710;8134367;8145819;8148318;8221884;8253837;8313912;8397411;8415765;8505331;8516294;8522608;8548803;8599929;8602245;8620540;8642258;8664345;8687433;8849454;8909537;8939989;8947036;9075930;9114004;9114011;9177194;9202021;9244307;9288971;9311912;9312039;9405360;9497313;9506951;9539769;9545226;9585416;9585417;9606180;9751720;9852153;9990005", "class_list": "", "function": "Circular RNA circ_0032462 Enhances Osteosarcoma Cell Progression by Promoting KIF3B Expression., [RefSeq, PubMed]; KIF3B gene silent variant leading to sperm morphology and motility defects and male infertilitydagger., [RefSeq, PubMed]; Microtubule-based molecular motor that transport intracellular cargos, such as vesicles, organelles and protein complexes. Uses ATP hydrolysis to generate force to bind and move along the microtubule (By similarity). Plays a role in cilia formation (PubMed:32386558). Involved in photoreceptor integrity and opsin trafficking in rod photoreceptors (PubMed:32386558). Transports vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit GRIN2A into neuronal dendrites (By similarity)., [UniProtKB, UniProtKB, PubMed]; The protein encoded by this gene acts as a heterodimer with kinesin family member 3A to aid in chromosome movement during mitosis and meiosis. The encoded protein is a plus end-directed microtubule motor and can interact with the SMC3 subunit of the cohesin complex. In addition, the encoded protein may be involved in the intracellular movement of membranous organelles. This protein and kinesin family member 3A form the kinesin II subfamily of the kinesin superfamily. [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": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 10, "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": "B2RMP4;B4DSR5;E1P5M5", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0016887 ATP hydrolysis activity;GO:0031267 small GTPase binding;GO:0003777 microtubule motor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0090307 mitotic spindle assembly;GO:0060271 cilium assembly;GO:0016192 vesicle-mediated transport;GO:0007018 microtubule-based movement;GO:0007368 determination of left/right symmetry", "synthesized_glycan_count": 0, "hit_score": 29.5, "record_id": "O15066-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y365-1", "uniprot_id": [ { "id": "STA10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y365", "type": "external" } ], "mass": 33049.0, "length": 291, "protein_name": "START domain-containing protein 10", "gene_name": "STARD10", "organism": "Human", "refseq_name": "START domain-containing protein 10", "refseq_ac": [ { "id": "NP_006636", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006636", "type": "external" } ], "gene_names_uniprotkb": "STARD10; CGI-52; SDCCAG28", "gene_names_refseq": "CGI-52; NY-CO-28; PCTP2; SDCCAG28; STARD10", "protein_names_uniprotkb": "START domain-containing protein 10; Antigen NY-CO-28; PCTP-L; PCTP-like protein; Serologically defined colon cancer antigen 28; StAR-related lipid transfer protein 10; StARD10", "protein_names_refseq": "PCTP-L; PCTP-like protein; START domain containing 10; START domain-containing protein 10; StAR-related lipid transfer (START) domain containing 10; antigen NY-CO-28; serologically defined colon cancer antigen 28; stAR-related lipid transfer protein 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:10809); (R-HSA-1483191)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10100195;10191259;10677542;10893425;11068039;11237011;11420179;11698453;12055623;12216837;12221122;14576202;14973250;15175005;15715662;15911624;17007874;17158099;17561512;18669648;18694939;19651622;19676041;19915674;20338778;21926997;23328280;23901139;24275569;24732803;24828044;26005868;26048993;26945070;28132686;28412359;28821867;29557506;3057511;30611309;31844290;32938616;33298915;35051231;35580925;36284347;9593753;9610721", "class_list": "", "function": "C-terminal StarD10 phosphorylation on serine 284 regulates its association with cellular membranes, [RefSeq, PubMed]; Data show that in multivariate analyses incorporating tumor size, tumor grade, lymph node status, ER, PR and HER2 status, low STARD10 expression was an independent predictor of death from breast cancer., [RefSeq, PubMed]; Finding proved that STARD10 and ERBB2 positively regulate each other's expression and function. Publication Status: Online-Only, [RefSeq, PubMed]; Hence, we provide a molecular explanation for acquired resistance to DTX that is caused by the miR-638 deficiency and subsequent STARD10 upregulation. In consequence, alteration of miR-638/STARD10 cascade may represent an attractive strategy in future adjuvant therapy along with DTX chemotherapy., [RefSeq, PubMed]; May play metabolic roles in sperm maturation or fertilization (By similarity). Phospholipid transfer protein that preferentially selects lipid species containing a palmitoyl or stearoyl chain on the sn-1 and an unsaturated fatty acyl chain (18:1 or 18:2) on the sn-2 position. Able to transfer phosphatidylcholine (PC) and phosphatidyetanolamline (PE) between membranes., [UniProtKB, PubMed]; StarD10 interacts with phosphatidylcholine and phosphatidylethanolamine and preferentially selects lipid species containing a palmitoyl or stearoyl chain on the sn-1 and an unsaturated fatty acyl chain (18:1 or 18:2) on the sn-2 position, [RefSeq, PubMed]; StarD10 is required for normal insulin secretion, though its deletion enhances proinsulin processing., [RefSeq, PubMed]; Stard10 (Sdccag28) is much more highly transcribed in mouse cardiac atria than in cardiac ventricles., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O60532", "ec_number_list": [], "go_molecular_function": "GO:0005319 lipid transporter activity;GO:0031210 phosphatidylcholine binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0031514 motile cilium;GO:0046581 intercellular canaliculus;GO:0005902 microvillus", "go_biological_process": "GO:0006656 phosphatidylcholine biosynthetic process;GO:0006869 lipid transport", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9Y365-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z6B7-1", "uniprot_id": [ { "id": "SRGP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z6B7", "type": "external" } ], "mass": 124264.0, "length": 1085, "protein_name": "SLIT-ROBO Rho GTPase-activating protein 1", "gene_name": "SRGAP1", "organism": "Human", "refseq_name": "SLIT-ROBO Rho GTPase-activating protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001333130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333130", "type": "external" } ], "gene_names_uniprotkb": "SRGAP1; ARHGAP13; KIAA1304", "gene_names_refseq": "ARHGAP13; NMTC2; SRGAP1", "protein_names_uniprotkb": "SLIT-ROBO Rho GTPase-activating protein 1; Rho GTPase-activating protein 13; srGAP1", "protein_names_refseq": "SLIT-ROBO Rho GTPase-activating protein 1 isoform 2; rho GTPase-activating protein 13", "tax_id": 9606, "disease": "focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); follicular thyroid carcinoma (Disease Ontology:DOID:3962); papillary thyroid carcinoma (Disease Ontology:DOID:3969)", "pathway": " (hsa:57522); (R-HSA-428543); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 5, "publication_count": 351, "publication_id_list": "10.1101/2023.09.13.557529;10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10724160;10873388;10873802;10958683;11007481;11058585;11085924;11149925;11207612;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11961559;12071859;12093360;12096337;12172552;12195014;12221077;12221096;12351724;12432077;12464619;12531887;12546821;12547822;12650940;12665586;12736724;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;15866170;15897194;16002401;16112081;16116428;16184169;16217026;16243036;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16968698;17064668;17077126;17081983;17145773;17196961;17214551;17244649;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18218625;18220336;18249095;18347018;18363964;18396277;18426980;18653540;18669648;18786931;18829452;18835169;18838382;18929667;19269969;19494238;19605563;19635168;19651622;19664994;19673492;19713215;19807924;19934221;20030946;20068231;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21060114;21148482;21351730;21454492;21542010;21565175;21613211;21685891;21699497;21730051;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22467852;22475431;22571869;22608513;22673745;22734669;22911862;22970203;22992742;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23539728;23572525;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24584464;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25576301;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26371245;26529257;26598554;26887924;27096001;27117132;27145964;27216196;27397612;27481945;27555588;27566826;27600516;27713499;27798618;27806292;27986909;28028151;28112683;28114311;28196833;28584191;28825699;28860633;29089502;29146911;29160905;29234151;29351928;29358323;29382922;29557506;29671580;29769354;29786170;30059200;30061681;30429286;30620550;30853411;31105010;31492838;31844290;31871319;32157095;32203420;32488085;32574038;32938616;32983136;33968037;33981976;33984363;34171305;34846842;35051231;35132862;35254053;35513511;35580925;37217939;39531497;39534244;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;9792683;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "FNBP2, ARHGAP13, ARHGAP14 and ARHGAP4 constitute the FNBP2 family characterized by FCH, RhoGAP and SH3 domains., [RefSeq, PubMed]; GTPase-activating protein for RhoA and Cdc42 small GTPases. Together with CDC42 seems to be involved in the pathway mediating the repulsive signaling of Robo and Slit proteins in neuronal migration. SLIT2, probably through interaction with ROBO1, increases the interaction of SRGAP1 with ROBO1 and inactivates CDC42., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Genome-wide linkage analysis in populations in Ohio and Poland: Data suggest that missense mutations in SRGAP1 are associated with genetic predisposition to papillary thyroid carcinoma., [RefSeq, PubMed]; High SRGAP1 expression is associated with gastric tumorigenesis., [RefSeq, PubMed]; Identification of SRGAP2 as a potential oncogene and a prognostic biomarker in hepatocellular carcinoma., [RefSeq, PubMed]; The RhoA antagonist, SRGAP1, is present at subconfluent junctions to a greater extent than in confluent cultures and SRGAP1 RNAi restores RhoA signaling and contractility in subconfluent cultures to levels seen in confluent cells., [RefSeq, PubMed]; The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]., [RefSeq]; This study proposed that the expression of SRGAP1 in the anterior neocortex may mark the early location of the human motor cortex, including its corticospinal projection neurons, allowing further study of their early differentiation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 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": 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": 1, "reported_phosphosites": 27, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 3, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q9H8A3;Q9P2P2", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0030336 negative regulation of cell migration;GO:0051963 regulation of synapse assembly", "synthesized_glycan_count": 0, "hit_score": 36.4, "record_id": "Q7Z6B7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P98155-1", "uniprot_id": [ { "id": "VLDLR_HUMAN", "url": "https://www.uniprot.org/uniprot/P98155", "type": "external" } ], "mass": 96098.0, "length": 873, "protein_name": "Very low-density lipoprotein receptor", "gene_name": "VLDLR", "organism": "Human", "refseq_name": "very low-density lipoprotein receptor isoform b precursor", "refseq_ac": [ { "id": "NP_001018066", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018066", "type": "external" } ], "gene_names_uniprotkb": "VLDLR", "gene_names_refseq": "CAMRQ1; CARMQ1; CHRMQ1; VLDL-R; VLDLRCH; VLDLR", "protein_names_uniprotkb": "Very low-density lipoprotein receptor; VLDL receptor; VLDL-R", "protein_names_refseq": "VLDL receptor; very low-density lipoprotein receptor isoform b precursor", "tax_id": 9606, "disease": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (Disease Ontology:DOID:0050997); cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 (Disease Ontology:DOID:0070556); age related macular degeneration 1 (Disease Ontology:DOID:0110014); Alzheimer's disease (Disease Ontology:DOID:10652); nephrotic syndrome (Disease Ontology:DOID:1184); morbid obesity (Disease Ontology:DOID:11981); autistic disorder (Disease Ontology:DOID:12849); dementia (Disease Ontology:DOID:1307); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312)", "pathway": " (hsa:7436); (R-HSA-8866376); (R-HSA-8866427); (R-HSA-8964046)", "pathway_count": 4, "publication_count": 71, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10191299;10224102;10391209;10571241;10852956;11237011;12446734;12658354;12700342;12700345;12857919;15064754;15265030;15591219;16080122;16529723;17330141;17339654;17350651;17452316;18039658;18644789;19520913;20427281;21273557;21734303;22461740;22510808;22936343;23052211;23506116;23584533;23701949;24381170;25502872;26129832;28904123;30459171;30573663;30779550;30873003;31020640;31154438;31844290;32157095;32350084;32387766;32488085;33592498;33936100;33968037;34357683;34509473;34929721;35580925;36284347;36352275;37098345;38176410;39095394;39127734;41162706;8020981;8069294;8128315;8294473;9049633;9633939;9861036", "class_list": "", "function": "(Microbial infection) Acts as a receptor for Semliki Forest virus., [UniProtKB, PubMed]; (Microbial infection) Functions as a receptor for yellow fever virus., [UniProtKB, PubMed]; ADAM17 mediates ectodomain shedding of the soluble VLDL receptor fragment in the retinal epithelium., [RefSeq, PubMed]; Identification of the miR-423-3p/VLDLR Regulatory Network for Glioma Using Transcriptome Analysis., [RefSeq, PubMed]; Multifunctional cell surface receptor that binds VLDL and transports it into cells by endocytosis and therefore plays an important role in energy metabolism. Also binds to a wide range of other molecules including Reelin/RELN or apolipoprotein E/APOE-containing ligands as well as clusterin/CLU (PubMed:24381170, PubMed:30873003). In the off-state of the pathway, forms homooligomers or heterooligomers with LRP8 (PubMed:30873003). Upon binding to ligands, homooligomers are rearranged to higher order receptor clusters that transmit the extracellular RELN signal to intracellular signaling processes by binding to DAB1 (PubMed:30873003). This interaction results in phosphorylation of DAB1 leading to the ultimate cell responses required for the correct positioning of newly generated neurons. Later, mediates a stop signal for migrating neurons, preventing them from entering the marginal zone (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009]., [RefSeq]; The receptor VLDLR binds Eastern Equine Encephalitis virus through multiple distinct modes. 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": 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": 0, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 9, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B2RMZ7;D3DRH6;Q5VVF6", "ec_number_list": [], "go_molecular_function": "GO:0034185 apolipoprotein binding;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding;GO:0001618 virus receptor activity;GO:0030229 very-low-density lipoprotein particle receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit;GO:0016020 membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0006869 lipid transport;GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0007613 memory;GO:0008203 cholesterol metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "P98155-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXH0-1", "uniprot_id": [ { "id": "ANGL8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXH0", "type": "external" } ], "mass": 22105.0, "length": 198, "protein_name": "Angiopoietin-like protein 8", "gene_name": "ANGPTL8", "organism": "Human", "refseq_name": "angiopoietin-like protein 8 precursor", "refseq_ac": [ { "id": "NP_061157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061157", "type": "external" } ], "gene_names_uniprotkb": "ANGPTL8; C19orf80; PRO1185; RIFL", "gene_names_refseq": "ANGPTL8; C19orf80; PRO1185; PVPA599; RIFL; TD26", "protein_names_uniprotkb": "Angiopoietin-like protein 8; Betatrophin; Lipasin; Refeeding-induced fat and liver protein", "protein_names_refseq": "angiopoietin-like protein 8 precursor; angiopoietin-like protein 8; hepatocellular carcinoma-associated gene TD26; hepatocellular carcinoma-associated protein TD26; lipasin; refeeding-induced fat and liver protein", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:55908); (R-HSA-8963889)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "10900462;11237011;12975309;1301939;15284087;15352036;15800215;16109723;17088546;17883852;17994020;17997385;19304573;19361614;20356926;20581395;21666694;21719679;21844202;22262056;22569073;22740495;22809513;23020258;23150577;23261442;23623304;24078058;24397894;24715725;24852694;24909692;24960069;24963292;25024395;25050901;25099942;25303484;25387803;25417115;26933753;26934567;26934667;29557506;35580925;37762544;37947641;37962908;38191275;38843864;7592670;8020465;8485124;9136889;9379936", "class_list": "", "function": "Angiopoietin-like protein 8: a multifaceted protein instrumental in regulating triglyceride metabolism. Review article, [RefSeq, PubMed]; Hormone that acts as a blood lipid regulator by regulating serum triglyceride levels (PubMed:22569073, PubMed:22809513, PubMed:23150577). May be involved in the metabolic transition between fasting and refeeding: required to direct fatty acids to adipose tissue for storage in the fed state (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Increased Levels of Circulating IGFBP4 and ANGPTL8 with a Prospective Role in Diabetic Nephropathy. Publication Status: Online-Only, [RefSeq, PubMed]; Lipasin is highly enriched in the liver, where its expression is suppressed by fasting and induced by obesity. Adenovirus-mediated overexpression of Lipasin increases serum triglyceride levels in mice. Lipasin therefore is a nutritionally-regulated liver-enriched factor that regulates serum triglyceride levels., [RefSeq, PubMed]; Lipasin, ANGPTL3 and ANGPTL4 are within the same branch based on phylogenetic analysis of all ANGPTL members, and therefore Lipasin is a novel but atypical member of the ANGPTL family. Lipasin is abundant in brown fat, in which its expression is induced by cold exposure. Lipasin and ANGPTL4 expressions show opposite changes in response to fasting and cold exposure., [RefSeq, PubMed]; Positive correlation of ANGPTL8 expression in human visceral adipose tissue with body mass index., [RefSeq, PubMed]; RIFL is an important new regulator of lipid metabolism., [RefSeq, PubMed]; The Proinflammatory Role of ANGPTL8 R59W Variant in Modulating Inflammation through NF-kappaB Signaling Pathway under TNFalpha Stimulation. Publication Status: Online-Only, [RefSeq, PubMed]; The correlations between angiopoietin like 8 and cardiometabolic risk factors in Saudi women with type 2 diabetes mellitus: A pilot study., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q9NQZ1", "ec_number_list": [], "go_molecular_function": "GO:0005179 hormone activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0019216 regulation of lipid metabolic process;GO:0010954 positive regulation of protein processing;GO:0070328 triglyceride homeostasis;GO:0050746 regulation of lipoprotein metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q6UXH0-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14497-1", "uniprot_id": [ { "id": "ARI1A_HUMAN", "url": "https://www.uniprot.org/uniprot/O14497", "type": "external" } ], "mass": 242045.0, "length": 2285, "protein_name": "AT-rich interactive domain-containing protein 1A", "gene_name": "ARID1A", "organism": "Human", "refseq_name": "AT-rich interactive domain-containing protein 1A isoform a", "refseq_ac": [ { "id": "NP_006006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006006", "type": "external" } ], "gene_names_uniprotkb": "ARID1A; BAF250A; BAF250; C1orf4; OSA1; SMARCF1", "gene_names_refseq": "ARID1A; B120; BAF250a; BAF250; BM029; C1orf4; CSS2; ELD; MRD14; OSA1; P270; SMARCF1; hELD; hOSA1", "protein_names_uniprotkb": "AT-rich interactive domain-containing protein 1A; ARID domain-containing protein 1A; B120; BAF250A; BAF250; BRG1-associated factor 250a; BRG1-associated factor 250; Osa homolog 1; SWI-like protein; SWI/SNF complex protein p270; SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1; hELD; hOSA1", "protein_names_refseq": "ARID domain-containing protein 1A; AT rich interactive domain 1A (SWI-like); AT-rich interactive domain-containing protein 1A isoform a; BRG1-associated factor 250a; OSA1 nuclear protein; SWI-like protein; SWI/SNF complex protein p270; SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1; brain protein 120; chromatin remodeling factor p250; osa homolog 1", "tax_id": 9606, "disease": "ovarian clear cell carcinoma (Disease Ontology:DOID:0050934); Coffin-Siris syndrome 1 (Disease Ontology:DOID:0070042); Coffin-Siris syndrome 2 (Disease Ontology:DOID:0070044); stomach cancer (Disease Ontology:DOID:10534); pre-eclampsia (Disease Ontology:DOID:10591); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); Coffin-Siris syndrome (Disease Ontology:DOID:1925); colon cancer (Disease Ontology:DOID:219); endometrial adenocarcinoma (Disease Ontology:DOID:2870); gastric adenocarcinoma (Disease Ontology:DOID:3717); lung non-small cell carcinoma (Disease Ontology:DOID:3908); esophagus adenocarcinoma (Disease Ontology:DOID:4914); Klatskin's tumor (Disease Ontology:DOID:4927); intrahepatic cholangiocarcinoma (Disease Ontology:DOID:4928); hepatocellular carcinoma (Disease Ontology:DOID:684); neuroblastoma (Disease Ontology:DOID:769); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261)", "pathway": " (hsa:8289); (R-HSA-3214858); (R-HSA-8939243); (R-HSA-9764790); (R-HSA-9824585); (R-HSA-9845323); (R-HSA-9933937); (R-HSA-9933946); (R-HSA-9934037)", "pathway_count": 9, "publication_count": 218, "publication_id_list": "10587587;10757798;11073988;11237011;11318604;11341840;11448779;11532965;11734557;11747826;11751582;11756452;11780067;11856727;11964381;11988099;12062444;12200431;12368262;12665591;12672490;1321344;14722072;15170388;15302935;1537333;1537334;15485929;15543135;15695812;15729346;16303920;16917507;16964243;17081983;17182843;17215844;17322306;17525332;17640523;17898714;17952075;18077418;18079182;18220336;18404153;18452278;18483556;18491316;18669648;18695000;18697795;18765789;18812475;19234465;19389701;19413330;19608861;19651622;19664995;19690332;19717472;20058876;20068231;20305658;20506188;20951943;21248752;21316606;21406692;21740066;21774791;22009941;22231400;22325351;22426308;22898188;22952240;23186163;23301498;23481700;23644491;23785148;23906836;24129315;24267888;24275569;24366607;24714562;24715725;25083560;25418920;25505266;25576301;25645385;25810538;25880248;26154972;26375851;26601204;26614907;26694611;26728094;26768311;26811146;26992070;27503676;27600516;27655845;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28533407;28649982;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30059200;30192525;30206221;30315122;30379171;30429286;30515787;30524438;30542730;30833945;31020640;31092671;31154438;31217245;31222486;31492838;31530632;31844290;31848261;31957176;32119511;32157095;32161166;32350084;32357974;32387766;32502341;32897882;32938616;32938750;32983136;33100333;33141586;33214551;33298915;33392160;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34509645;34561969;34932366;35051231;35132862;35138101;35254053;35318648;35513511;35561310;35580127;35580925;35705054;36010968;36241641;36284347;36420658;37541260;37938771;38253038;38359823;38665916;38754421;38858765;38873993;39228255;39302247;39531497;39534244;40136647;40307207;7813420;8306979;8804307;8921401;9434167;9642256;9758418", "class_list": "", "function": "ARID1A restrains EMT and stemness of ovarian cancer cells through the Hippo pathway., [RefSeq, PubMed]; ARID1A suppresses R-loop-mediated STING-type I interferon pathway activation of anti-tumor immunity., [RefSeq, PubMed]; ARID1A-Deficient Tumors Acquire Immunogenic Neoantigens during the Development of Resistance to Targeted Therapy., [RefSeq, PubMed]; Genome-wide DNA methylation in relation to ARID1A deficiency in ovarian clear cell carcinoma. Publication Status: Online-Only, [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. Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. 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": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 37, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 37, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 37, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 26, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 470, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 20, "glyco_site_count": 38, "binding_glycan_count": 0, "secondary_ac_list": "D3DPL1;Q53FK9;Q5T0W1;Q5T0W2;Q5T0W3;Q8NFD6;Q96T89;Q9BY33;Q9HBJ5;Q9UPZ1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0016922 nuclear receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016514 SWI/SNF complex;GO:0071564 npBAF complex;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:0006357 regulation of transcription by RNA polymerase II;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 25.8, "record_id": "O14497-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8L6-1", "uniprot_id": [ { "id": "ARL10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8L6", "type": "external" } ], "mass": 27459.0, "length": 244, "protein_name": "ADP-ribosylation factor-like protein 10", "gene_name": "ARL10", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 10 isoform 2", "refseq_ac": [ { "id": "NP_775935", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775935", "type": "external" } ], "gene_names_uniprotkb": "ARL10; ARL10A", "gene_names_refseq": "ARL10A; ARL10", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 10", "protein_names_refseq": "ADP ribosylation factor like GTPase 10; ADP-ribosylation factor-like 10A; ADP-ribosylation factor-like membrane-associated protein; ADP-ribosylation factor-like protein 10 isoform 2; ADP-ribosylation factor-like protein 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:285598)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;15033445;23481700;27846572;27920218;29242379;31844290;32157095;32488085;33298915;34171305", "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": "", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8N8L6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43187-1", "uniprot_id": [ { "id": "IRAK2_HUMAN", "url": "https://www.uniprot.org/uniprot/O43187", "type": "external" } ], "mass": 69433.0, "length": 625, "protein_name": "Interleukin-1 receptor-associated kinase-like 2", "gene_name": "IRAK2", "organism": "Human", "refseq_name": "interleukin-1 receptor-associated kinase-like 2", "refseq_ac": [ { "id": "NP_001561", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001561", "type": "external" } ], "gene_names_uniprotkb": "IRAK2", "gene_names_refseq": "IRAK-2; IRAK2", "protein_names_uniprotkb": "Interleukin-1 receptor-associated kinase-like 2; IRAK-2", "protein_names_refseq": "interleukin-1 receptor-associated kinase-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:3656); (R-HSA-166058); (R-HSA-168638); (R-HSA-445989); (R-HSA-450302); (R-HSA-450321); (R-HSA-9020702); (R-HSA-937042); (R-HSA-937072); (R-HSA-9692916); (R-HSA-9705671); (R-HSA-975138); (R-HSA-975155); (R-HSA-975163); (R-HSA-975871)", "pathway_count": 15, "publication_count": 280, "publication_id_list": "10075690;10224040;10329646;10383454;10465784;10514433;10702308;10723127;10838074;10854325;10882101;10918611;11057907;11087742;11094434;11323434;11460167;11544529;11960013;12019269;12138165;12140561;12171911;12242293;12297423;12447441;12447442;12496252;12514169;12527755;12538665;12609980;12692549;12724322;12759408;12791687;12791997;12796777;12860405;12917691;14514672;14625308;14633987;15145317;15208624;15327770;15361868;15492225;15585605;15620648;15767370;15814722;15837794;15917247;15944945;16024789;16056267;16186825;16260493;16286015;16289117;16306937;16439361;16751103;17035307;17047224;17135271;17141195;17270291;17303577;17344846;17412287;17485511;17496917;17507369;17562858;17596301;17675297;17726518;17728323;17761676;17878161;17890055;17997719;18070880;18070982;18079694;18180283;1828071;1833184;18438411;18462684;18794297;18829464;19224918;19264966;19380580;19398035;19498957;19509286;19535145;19592493;19592497;19675569;19903815;19935683;20047764;20300203;20485341;20966070;21136679;2139180;2147937;21606490;22046132;22253733;22312431;22454496;22544926;22941947;23186163;23481700;23483519;24366607;24509444;24622840;24715725;24840642;24854014;25135833;25418920;25469497;25645385;25764917;25892735;25907116;26154972;26320399;26378163;26992070;27164085;27203180;27466718;27600516;27701768;27846572;27920218;28148787;28218747;28228285;28832583;28860189;28904123;29242379;29294448;29331515;29393594;29437277;2946959;29508533;29557506;29632046;29632711;29769354;29786170;30185776;30315122;30379171;30410026;30779550;30833945;31034780;31154438;31222486;31231549;31530632;31844290;31848261;31850239;31937595;31998317;32265295;32353859;32357974;32387766;32428392;32488085;32502341;32589897;32726803;32728199;32938616;32953130;32979938;32983136;33024073;33060197;33097660;33110251;33141586;33298915;33349665;33360543;33372174;33372854;33392160;33396605;33440148;33479219;33495715;33514628;33567255;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33963333;33968037;33981976;33989516;33990585;34021074;34054808;34084167;34110168;34166398;34171305;34185709;34211107;34239064;34290717;34341353;34375313;34400613;34405274;34439781;34452305;34471099;34502139;34509645;34597346;35051231;35102342;35580925;35588430;35643212;36010968;36241641;36284347;37051252;37217939;37938771;7628694;8327496;8332913;8533096;8599092;8622669;8638164;8837778;9008162;9346484;9371760;9374458;9430229;9430721;9744859;9768359;9859996;9865693;9989503;9990852;9990853", "class_list": "", "function": "Binds to the IL-1 type I receptor following IL-1 engagement, triggering intracellular signaling cascades leading to transcriptional up-regulation and mRNA stabilization., [UniProtKB, PubMed, PubMed]; IRAK2 encodes the interleukin-1 receptor-associated kinase 2, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. IRAK2 is reported to participate in the IL1-induced upregulation of NF-kappaB. [provided by RefSeq, Jul 2008]., [RefSeq]; Multi-locus SNP analyses of interleukin 1 receptor associated kinases 2 gene polymorphisms with the susceptibility to rheumatoid arthritis. 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": 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": "B4DQZ6;Q08AG6;Q5K546", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0004672 protein kinase activity;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0070498 interleukin-1-mediated signaling pathway;GO:0044546 NLRP3 inflammasome complex assembly;GO:0006468 protein phosphorylation;GO:0006954 inflammatory response;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 28.3, "record_id": "O43187-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17275-1", "uniprot_id": [ { "id": "JUNB_HUMAN", "url": "https://www.uniprot.org/uniprot/P17275", "type": "external" } ], "mass": 35879.0, "length": 347, "protein_name": "Transcription factor JunB", "gene_name": "JUNB", "organism": "Human", "refseq_name": "transcription factor JunB", "refseq_ac": [ { "id": "NP_002220", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002220", "type": "external" } ], "gene_names_uniprotkb": "JUNB", "gene_names_refseq": "AP-1; JUNB", "protein_names_uniprotkb": "Transcription factor JunB; Transcription factor AP-1 subunit JunB", "protein_names_refseq": "activator protein 1; jun B proto-oncogene; transcription factor AP-1 subunit JunB; transcription factor JunB; transcription factor jun-B", "tax_id": 9606, "disease": "anaplastic large cell lymphoma (Disease Ontology:DOID:0050744); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); melanoma (Disease Ontology:DOID:1909); colon cancer (Disease Ontology:DOID:219); gallbladder cancer (Disease Ontology:DOID:3121); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); renal carcinoma (Disease Ontology:DOID:4451); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); Hodgkin's lymphoma (Disease Ontology:DOID:8567); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:3726); (R-HSA-2173796); (R-HSA-6785807); (R-HSA-9031628); (R-HSA-9725371)", "pathway_count": 5, "publication_count": 369, "publication_id_list": "10022869;10023775;10199400;10203854;10219247;10369418;10381005;10510379;10586089;10611221;10611312;10656257;10734128;10790372;10826704;10867011;10872467;10882540;10984481;11007770;11013220;11018254;11027551;11058569;11084045;11104795;11120780;11169414;11274402;11278437;11278729;11280768;11331872;11343657;11356008;11404481;11424093;11427533;11463377;11567222;11751994;11755530;11840323;11956230;11960372;12150994;12223527;12242343;12399542;12446674;12511643;12600988;12748172;12832402;12917425;1377233;14522948;14597720;14634100;14657019;14712222;14969744;15100235;15102911;15116091;15150273;15161978;15261459;15302935;15308641;15449318;15542842;15584925;15620361;1570299;15733869;15805299;15836632;15869882;15880109;15950906;16007214;16009132;16034366;16048438;16107692;16136673;16187211;16205632;16221685;16236134;16260776;16278212;16287845;16319104;16339507;16387660;16397018;16407550;16451196;16484497;16510571;16540365;16574654;16606674;16732277;17081983;17088210;17088211;17088212;17110082;17111047;17416736;17427945;17438144;17458857;17572495;17632064;17690253;17898216;17922009;18024471;18056528;18088355;18097461;18160048;18243101;1833716;18353781;18447642;18452278;18456662;18524893;18568018;1861162;18644974;18669648;19061646;19116276;19124156;19185846;19193899;19194657;19397496;19651622;19690332;19914168;19926875;20015877;20068231;20112406;2017159;2040600;20493732;20506119;2052361;20595680;2072895;21057636;2109185;21102457;2112242;21252155;21326363;21406692;21486943;21621608;21689689;21715655;21730069;21937440;21994466;22046235;22053691;22065583;22205702;22275377;22302795;2237820;22383755;22693070;22851691;22955283;23086340;23124025;23172665;23186163;23455323;23481700;23555662;23967200;24060757;24060861;24097101;24715725;24743777;25114211;2513129;25218447;25234944;25248477;25418920;25505266;25569790;25576301;25748042;25755297;25772364;25818168;25892735;26018600;26154972;26217035;2676516;26811146;26992070;27041596;27128622;27220739;27553022;27846572;27920218;28063628;28076410;28121444;28228285;28275114;28286024;28514659;28832583;28834231;28904123;29237092;29242379;29351928;29393594;29493099;29508533;29557506;29559111;29588546;29632046;29632711;29786170;30059200;30192525;30315122;30429286;30524438;30692217;30779550;31154438;31217245;3127059;31366041;31373491;31390744;31434245;31492838;31844290;31848261;31936902;31937595;32119511;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33141586;33214551;33298915;33392160;33537174;33592498;33686291;33912179;33936100;33950562;33968037;33981976;34019948;34087483;34171305;34725712;34932366;35051231;35132862;35254053;35318648;35513511;35561310;35580925;36010968;36215666;36241641;36284347;3672127;38140943;38665916;38727318;39160158;39534244;39676507;40596516;7510216;7512451;7529288;7551568;7592934;7595538;7608156;7624335;7777577;7795521;7796300;7823924;7857651;7871435;7876254;7898939;7907877;7923378;8085155;8090221;8090222;8248782;8413279;8483478;8530030;8576248;8583621;8602263;8621622;8663118;8668165;8668170;8756618;8797861;8816495;8846918;8917518;8918830;9013879;9032251;9084409;9343422;9390517;9418898;9622090;9651359;9722618;9723655;9736340;9770464;9774344;9808461;9822675;9822744;9858769;9874564;9889198;9930702", "class_list": "", "function": "Comprehensive Analysis of CXCR4, JUNB, and PD-L1 Expression in Circulating Tumor Cells (CTCs) from Prostate Cancer Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Dual therapeutic targeting of MYC and JUNB transcriptional programs for enhanced anti-myeloma activity. Publication Status: Online-Only, [RefSeq, PubMed]; JunB condensation attenuates vascular endothelial damage under hyperglycemic condition., [RefSeq, PubMed]; Transcription factor involved in regulating gene activity following the primary growth factor response. Binds to the DNA sequence 5'-TGA[GC]TCA-3'. Heterodimerizes with proteins of the FOS family to form an AP-1 transcription complex, thereby enhancing its DNA binding activity to an AP-1 consensus sequence and its transcriptional activity (By similarity)., [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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 22, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 22, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 22, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 13, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "Q96GH3", "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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin;GO:0035976 transcription factor AP-1 complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0042127 regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0048545 response to steroid hormone", "synthesized_glycan_count": 0, "hit_score": 39.4, "record_id": "P17275-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07954-1", "uniprot_id": [ { "id": "LRP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07954", "type": "external" } ], "mass": 504606.0, "length": 4544, "protein_name": "Prolow-density lipoprotein receptor-related protein 1", "gene_name": "LRP1", "organism": "Human", "refseq_name": "prolow-density lipoprotein receptor-related protein 1 preproprotein", "refseq_ac": [ { "id": "NP_002323", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002323", "type": "external" } ], "gene_names_uniprotkb": "LRP1; A2MR; APR", "gene_names_refseq": "A2MR; APOER; APR; CD91; DDH3; IGFBP-3R; IGFBP3R1; IGFBP3R; KPA; LRP1A; LRP1; LRP; TGFBR5", "protein_names_uniprotkb": "Prolow-density lipoprotein receptor-related protein 1; A2MR; APOER; Alpha-2-macroglobulin receptor; Apolipoprotein E receptor; LRP-1", "protein_names_refseq": "TbetaR-V/LRP-1/IGFBP-3 receptor; alpha-2-macroglobulin receptor; apolipoprotein E receptor; low density lipoprotein receptor-related protein 1; prolow-density lipoprotein receptor-related protein 1 preproprotein; prolow-density lipoprotein receptor-related protein 1; type V tgf-beta receptor", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); omphalocele (Disease Ontology:DOID:0060327); keratosis pilaris atrophicans (Disease Ontology:DOID:0080751); Alzheimer's disease (Disease Ontology:DOID:10652); gastroschisis (Disease Ontology:DOID:11044); sciatic neuropathy (Disease Ontology:DOID:11446); alcoholic hepatitis (Disease Ontology:DOID:12351); alcohol use disorder (Disease Ontology:DOID:1574); epilepsy (Disease Ontology:DOID:1826); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); myocardial infarction (Disease Ontology:DOID:5844); prostate carcinoma in situ (Disease Ontology:DOID:8634); diabetes mellitus (Disease Ontology:DOID:9351); developmental dysplasia of the hip 3 (MONDO:MONDO:0958037)", "pathway": " (hsa:4035); (R-HSA-2168880); (R-HSA-975634)", "pathway_count": 3, "publication_count": 199, "publication_id_list": "37268159;10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10052934;1008494;10318830;10381560;10652313;10769148;10772929;11060341;11158305;11181758;11196644;11237011;11274389;11729193;11735395;11854294;11877257;11907044;1252417;12713657;12789267;1279089;12888553;13342742;13472068;1423604;14764453;15053742;15272003;15358783;1542003;15448162;15542058;15583000;15697213;15769472;15947085;16046400;1618748;16189277;16200213;16335952;1646599;16778136;16938309;16939223;16959974;1698775;17008602;1702392;17102136;17124247;17525477;17644776;17845074;17975675;18087047;18295589;18381291;18460466;18491316;18507396;18556779;1856611;19014918;19139408;19139490;19159218;19324878;19650691;19651622;20068231;20430887;20920479;21081667;21106934;2112085;21851338;21968187;22492620;22922649;23033978;23090970;23584533;24106281;24190977;24275569;25576301;25645385;25813380;25892735;2597675;26142438;26154972;26992070;27452731;27726376;27846572;2793848;2806549;28218747;2833500;28489076;28514659;28832583;29242379;29314611;29391424;29393594;29557506;29741879;29786170;30237853;30429286;30459171;30484775;30524438;30779550;30833945;31154438;31222486;31844290;31848261;32157095;32161166;32296178;32350084;32387766;32488085;3266596;32938616;32983136;33043033;33123756;33214551;33592498;33912179;33968037;34019948;34087483;34171305;34357683;34405274;34411563;34509645;34559985;34561969;34725712;35051231;35251023;35318648;35513511;35580925;35705054;36010968;36067312;36215666;36284347;37074911;3714052;37340703;38488124;38665916;38906140;3891754;38950861;3942763;4074707;41162706;4327491;4345202;496916;5057882;5135507;5675424;6420172;6480598;6849882;6961410;7263686;7287740;7378053;7534747;7683668;8017323;8384721;8424694;8728311;8855948;9252371;971416;9782078;9888420;9920938;9925661", "class_list": "", "function": "(Microbial infection) Functions as a receptor for Pseudomonas aeruginosa exotoxin A., [UniProtKB, PubMed]; (Microbial infection) Functions as a receptor for yellow fever virus., [UniProtKB, PubMed]; Apolipoprotein E-containing lipoproteins and their extracellular interactions with LRP1 affect LPS-induced inflammation. Publication Status: Online-Only, [RefSeq, PubMed]; Astrocytic LRP1 enables mitochondria transfer to neurons and mitigates brain ischemic stroke by suppressing ARF1 lactylation., [RefSeq, PubMed]; Endocytic receptor involved in endocytosis and in phagocytosis of apoptotic cells (PubMed:11907044, PubMed:12713657). Required for early embryonic development (By similarity). Involved in cellular lipid homeostasis. Involved in the plasma clearance of chylomicron remnants and activated LRPAP1 (alpha 2-macroglobulin), as well as the local metabolism of complexes between plasminogen activators and their endogenous inhibitors. Acts as an LRPAP1 alpha-2-macroglobulin receptor (PubMed:1702392, PubMed:26142438). Acts as TAU/MAPT receptor and controls the endocytosis of TAU/MAPT as well as its subsequent spread (PubMed:32296178). May modulate cellular events, such as APP metabolism, kinase-dependent intracellular signaling, neuronal calcium signaling as well as neurotransmission (PubMed:12888553). Also acts as a receptor for IGFBP3 to mediate cell growth inhibition (PubMed:9252371)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Novel insights into the multifaceted and tissue-specific roles of the endocytic receptor LRP1. Review article, [RefSeq, PubMed]; This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the alpha 2-macroglobulin-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer's disease patients. [provided by RefSeq, Oct 2015]., [RefSeq]", "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": 46, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 48, "reported_o_glycosites_with_glycan": 32, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 52, "total_reported_o_glycosites": 32, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 52, "total_o_glycosites": 32, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 16, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 275, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 176, "disease_count": 14, "glyco_site_count": 95, "binding_glycan_count": 0, "secondary_ac_list": "Q2PP12;Q86SW0;Q8IVG8", "ec_number_list": [], "go_molecular_function": "GO:0016964 alpha-2 macroglobulin receptor activity;GO:0030226 apolipoprotein receptor activity;GO:0003723 RNA binding;GO:0005044 scavenger receptor activity;GO:0034185 apolipoprotein binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit", "go_biological_process": "GO:0032370 positive regulation of lipid transport;GO:1905167 positive regulation of lysosomal protein catabolic process;GO:2000587 negative regulation of platelet-derived growth factor receptor-beta signaling pathway;GO:0001523 retinoid metabolic process;GO:0002265 astrocyte activation involved in immune response", "synthesized_glycan_count": 0, "hit_score": 46.0, "record_id": "Q07954-1", "record_type": "protein", "filter_code": "0000000.1100111.000100.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0A9-1", "uniprot_id": [ { "id": "SPC1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0A9", "type": "external" } ], "mass": 37613.0, "length": 340, "protein_name": "Speriolin-like protein", "gene_name": "SPATC1L", "organism": "Human", "refseq_name": "speriolin-like protein isoform 1", "refseq_ac": [ { "id": "NP_001136326", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136326", "type": "external" } ], "gene_names_uniprotkb": "SPATC1L; C21orf56", "gene_names_refseq": "C21orf56; SPATC1L", "protein_names_uniprotkb": "Speriolin-like protein; Spermatogenesis and centriole-associated protein 1-like protein", "protein_names_refseq": "speriolin-like protein isoform 1; speriolin-like protein; spermatogenesis and centriole-associated protein 1-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:84221)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "11230166;18805990;22544926;23481700;25576301;25645385;25880248;26992070;27058226;27600516;27893789;28218747;28228285;28339009;28832583;28834231;28849223;28904123;29242379;29331515;29437277;29493099;29557506;29632046;29789417;30026308;30177775;30315122;30429286;30484775;30524438;31154438;31217245;31429579;31844290;31848261;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33152445;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34171305;34185709;34213489;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37625567;37938771", "class_list": "", "function": "Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage., [RefSeq, PubMed]; Biallelic mutations in spermatogenesis and centriole-associated 1 like (SPATC1L) cause acephalic spermatozoa syndrome and male infertility., [RefSeq, PubMed]; PTSD is associated with increased DNA methylation across regions of HLA-DPB1 and SPATC1L., [RefSeq, PubMed]; Rs1465567 of EGFLAM and rs113710653 of SPATC1L may be susceptibility loci for true aortic aneurysm and rs143881017 of RNASE13 may be such a locus for dissecting aortic aneurysm in Japanese individuals., [RefSeq, PubMed]; SPATC1L was identified as a candidate gene for early-onset and age-related hearing loss., [RefSeq, PubMed]; TNFSF13, SPATC1L, SLC22A25 and SALL4 may thus be novel susceptibility loci for atrial fibrillation in the Japanese population, [RefSeq, PubMed]; These results implicate the SPATC1L-PKA complex in maintaining the stability of the sperm head-tail junction, thereby revealing a new molecular basis for sperm head-tail integrity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B4E323;Q52LS9;Q6FIH5;Q6P0L3;Q9NSE5", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0034237 protein kinase A regulatory subunit binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0120212 sperm head-tail coupling apparatus", "go_biological_process": "GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q9H0A9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95848-1", "uniprot_id": [ { "id": "NUD14_HUMAN", "url": "https://www.uniprot.org/uniprot/O95848", "type": "external" } ], "mass": 24118.0, "length": 222, "protein_name": "Uridine diphosphate glucose pyrophosphatase NUDT14", "gene_name": "NUDT14", "organism": "Human", "refseq_name": "uridine diphosphate glucose pyrophosphatase NUDT14 isoform 1", "refseq_ac": [ { "id": "NP_803877", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_803877", "type": "external" } ], "gene_names_uniprotkb": "NUDT14; UGPP", "gene_names_refseq": "NUDT14; UGPPase; UGPP", "protein_names_uniprotkb": "Uridine diphosphate glucose pyrophosphatase NUDT14; 3.6.1.-; 3.6.1.13; Nucleoside diphosphate-linked moiety X motif 14; Nudix motif 14; UDPG pyrophosphatase; UGPPase", "protein_names_refseq": "UDP-sugar diphosphatase; UDPG pyrophosphatase; nudix (nucleoside diphosphate linked moiety X)-type motif 14; uridine diphosphate glucose pyrophosphatase NUDT14 isoform 1; uridine diphosphate glucose pyrophosphatase NUDT14", "tax_id": 9606, "disease": "", "pathway": " (hsa:256281); (R-HSA-480985)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10359825;10662552;11237011;12429023;23481700;24714562;24715725;25576301;26154972;26781650;26992070;27846572;27862975;28904123;29493099;29557506;30410026;30429286;31154438;31530632;31844290;31848261;31937595;31998317;32157095;32387766;32488085;32502341;32938616;32983136;33123756;33141586;33298915;33592498;33912179;33936100;33968037;34171305;34211107;34433824;34509645;34932366;35051231;35318648;35580925;36284347;38635563", "class_list": "", "function": "Cytosolic pyrophosphatase hydrolyzing the diphosphate bond in various nucleotide-sugars with a higher efficiency for UDP-alpha-D-glucose and ADP-D-ribose., [UniProtKB, PubMed, PubMed]; The interaction between the RL13 protein and NUDT14 protein may be involved in human cytomegalovirus DNA replication., [RefSeq, PubMed]; The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This enzyme contains a Nudix hydrolase domain and is a UDPG pyrophosphatase that hydrolyzes UDPG to produce glucose 1-phosphate and UMP. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 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": 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": "Q86SJ8", "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" }, { "id": "3.6.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.16", "type": "external" }, { "id": "3.6.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.53", "type": "external" }, { "id": "3.6.1.58", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.58", "type": "external" }, { "id": "2.7.7.96", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.96", "type": "external" } ], "go_molecular_function": "GO:0008768 UDP-sugar diphosphatase activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0047631 ADP-ribose diphosphatase activity;GO:0080042 ADP-glucose pyrophosphohydrolase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0019693 ribose phosphate metabolic process;GO:0006753 nucleoside phosphate metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "O95848-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4P4-1", "uniprot_id": [ { "id": "RNF41_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4P4", "type": "external" } ], "mass": 35905.0, "length": 317, "protein_name": "E3 ubiquitin-protein ligase NRDP1", "gene_name": "RNF41", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase NRDP1 isoform 1", "refseq_ac": [ { "id": "NP_001229755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229755", "type": "external" } ], "gene_names_uniprotkb": "RNF41; FLRF; NRDP1; SBBI03", "gene_names_refseq": "FLRF; NRDP1; RNF41; SBBI03", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase NRDP1; 2.3.2.27; RING finger protein 41; RING-type E3 ubiquitin transferase NRDP1", "protein_names_refseq": "E3 ubiquitin-protein ligase NRDP1 isoform 1; E3 ubiquitin-protein ligase NRDP1; RING-type E3 ubiquitin transferase NRDP1; fetal liver ring finger; neuregulin receptor degradation protein-1; ring finger protein 41, E3 ubiquitin protein ligase", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289); congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:10193); (R-HSA-1358803); (R-HSA-983168)", "pathway_count": 3, "publication_count": 54, "publication_id_list": "11062501;11237011;11350924;12411582;12646216;14734113;14765125;15224091;15224092;15314180;15571818;15632191;16595681;16849449;16954532;17035239;17210635;18541373;18662542;19028597;19352404;19452197;19483718;19489725;19851334;19874575;19940261;2261476;24259665;24949970;25576301;26375851;27846572;27862975;27920218;29242379;29393594;29632046;29632711;30429286;31848261;32157095;32265295;32387766;32502341;32938616;33981976;34509645;36446779;38583443;38654108;39112516;9380723;9668046", "class_list": "", "function": "A noncanonical E3 ubiquitin ligase RNF41-mediated MYO1C stability promotes prostate cancer metastasis by inducing actin remodeling., [RefSeq, PubMed]; Acts as E3 ubiquitin-protein ligase and regulates the degradation of target proteins. Polyubiquitinates MYD88. Negatively regulates MYD88-dependent production of pro-inflammatory cytokines. Can promote TRIF-dependent production of type I interferon and inhibits infection with vesicular stomatitis virus (By similarity). Promotes also activation of TBK1 and IRF3. Involved in the ubiquitination of erythropoietin (EPO) and interleukin-3 (IL-3) receptors. Thus, through maintaining basal levels of cytokine receptors, RNF41 is involved in the control of hematopoietic progenitor cell differentiation into myeloerythroid lineages (By similarity). Contributes to the maintenance of steady-state ERBB3 levels by mediating its growth factor-independent degradation. Involved in the degradation of the inhibitor of apoptosis BIRC6 and thus is an important regulator of cell death by promoting apoptosis. Also acts as a PRKN modifier that accelerates its degradation, resulting in a reduction of PRKN activity, influencing the balance of intracellular redox state. The RNF41-PRKN pathway regulates autophagosome-lysosome fusion during late mitophagy. Mitophagy is a selective form of autophagy necessary for mitochondrial quality control (PubMed:24949970)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Correlation between neuregulin receptor degradation protein-1 and Crohn's disease., [RefSeq, PubMed]; M[6]A-modified circFNDC3B inhibits colorectal cancer stemness and metastasis via RNF41-dependent ASB6 degradation. Publication Status: Online-Only, [RefSeq, PubMed]; Nrdp1 can be important in the initiation of apoptosis by catalyzing ubiquitination and degradation of BRUCE., [RefSeq, PubMed]; This gene encodes an E3 ubiquitin ligase. The encoded protein plays a role in type 1 cytokine receptor signaling by controlling the balance between JAK2-associated cytokine receptor degradation and ectodomain shedding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]., [RefSeq]; VEGF-induced Nrdp1 deficiency in vascular endothelial cells promotes cancer metastasis by degrading vascular basement membrane., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NFW0;B2RBT8;O75598", "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": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "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:0005135 interleukin-3 receptor binding;GO:0008270 zinc ion binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0071782 endoplasmic reticulum tubular network", "go_biological_process": "GO:0051896 regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0008285 negative regulation of cell population proliferation;GO:0030336 negative regulation of cell migration;GO:0006914 autophagy;GO:2000379 positive regulation of reactive oxygen species metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q9H4P4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A7MD48-1", "uniprot_id": [ { "id": "SRRM4_HUMAN", "url": "https://www.uniprot.org/uniprot/A7MD48", "type": "external" } ], "mass": 68559.0, "length": 611, "protein_name": "Serine/arginine repetitive matrix protein 4", "gene_name": "SRRM4", "organism": "Human", "refseq_name": "serine/arginine repetitive matrix protein 4", "refseq_ac": [ { "id": "NP_919262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_919262", "type": "external" } ], "gene_names_uniprotkb": "SRRM4; KIAA1853", "gene_names_refseq": "KIAA1853; MU-MB-2.76; SRRM4; nSR100", "protein_names_uniprotkb": "Serine/arginine repetitive matrix protein 4; Medulloblastoma antigen MU-MB-2.76; Neural-specific SR-related protein of 100 kDa; Neural-specific serine/arginine repetitive splicing factor of 100 kDa; nSR100", "protein_names_refseq": "medulloblastoma antigen MU-MB-2.76; neural-specific SR-related protein of 100 kDa; neural-specific serine/arginine repetitive splicing factor of 100 kDa; serine/arginine repetitive matrix protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:84530)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;12800201;17081983;19651622;19737518;23928058;25525873;28411811;30684677;31110284;32403054;33207694;34312180;35051231;35494241;35580925", "class_list": "", "function": "A gapmer antisense oligonucleotide targeting SRRM4 is a novel therapeutic medicine for lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Alternative splicing of LSD1+8a in neuroendocrine prostate cancer is mediated by SRRM4., [RefSeq, PubMed]; Findings show that nSR100 plays a role in the alternative splicing of REST in small cell lung cancer (SCLC); study provides new insight into the role of nSR100 in the expression of sREST, possibly in the pathogenesis of SCLC, [RefSeq, PubMed]; Neural microexons are regulated by the neuronal-specific splicing factor nSR100/SRRM4, through its binding to adjacent intronic enhancer motifs; neural microexons are frequently misregulated in the brains of individuals with autism spectrum disorder, and this misregulation is associated with reduced levels of nSR100., [RefSeq, PubMed]; RNA Splicing Factors SRRM3 and SRRM4 Distinguish Molecular Phenotypes of Castration-Resistant Neuroendocrine Prostate Cancer., [RefSeq, PubMed]; SRRM4 Expands the Repertoire of Circular RNAs by Regulating Microexon Inclusion. Publication Status: Online-Only, [RefSeq, PubMed]; SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]).[supplied by OMIM, Oct 2009]., [RefSeq]; Splicing factor specifically required for neural cell differentiation. Acts in conjunction with nPTB/PTBP2 by binding directly to its regulated target transcripts and promotes neural-specific exon inclusion in many genes that function in neural cell differentiation. Required to promote the inclusion of neural-specific exon 10 in nPTB/PTBP2, leading to increased expression of neural-specific nPTB/PTBP2. Also promotes the inclusion of exon 16 in DAAM1 in neuron extracts (By similarity). Promotes alternative splicing of REST transcripts to produce REST isoform 3 (REST4) with greatly reduced repressive activity, thereby activating expression of REST targets in neural cells (PubMed:30684677). Plays an important role during embryonic development as well as in the proper functioning of the adult nervous system. Regulates alternative splicing events in genes with important neuronal functions (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": 5, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K5P6;B2RZH7;Q7Z5F0;Q96JH4", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006397 mRNA processing;GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0008380 RNA splicing;GO:0043484 regulation of RNA splicing", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "A7MD48-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95166-1", "uniprot_id": [ { "id": "GBRAP_HUMAN", "url": "https://www.uniprot.org/uniprot/O95166", "type": "external" } ], "mass": 13918.0, "length": 117, "protein_name": "Gamma-aminobutyric acid receptor-associated protein", "gene_name": "GABARAP", "organism": "Human", "refseq_name": "gamma-aminobutyric acid receptor-associated protein", "refseq_ac": [ { "id": "NP_009209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009209", "type": "external" } ], "gene_names_uniprotkb": "GABARAP; FLC3B; HT004", "gene_names_refseq": "ATG8A; GABARAP-a; GABARAP; MM46", "protein_names_uniprotkb": "Gamma-aminobutyric acid receptor-associated protein; GABA(A) receptor-associated protein; MM46", "protein_names_refseq": "GABA(A) receptor-associated protein; epididymis secretory sperm binding protein; gamma-aminobutyric acid receptor-associated protein", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888)", "pathway": " (hsa:11337); (R-HSA-1632852); (R-HSA-8854214)", "pathway_count": 3, "publication_count": 154, "publication_id_list": "10202141;10931946;11096062;11146101;11237011;11729197;11825910;11875056;11885988;12507496;15169837;15187094;15977068;16055087;16395330;16963840;17580304;17618624;17658474;17901050;18199687;18319245;18321988;18439900;18466115;18638487;18991276;19056683;19154346;19211835;19322194;19590496;19855179;19898463;20059746;20095038;20116244;20363736;20404108;20562859;20713597;20818167;20921139;21177865;21205641;21258367;21383079;21383122;21458671;21460621;21819378;22170151;22219378;22354992;22421968;22470510;22613832;22682742;22762500;22795129;22854040;22948227;23019362;23043107;23202584;23562278;23685627;23727157;23783831;23884233;24089205;24668264;24715725;24747438;24954904;25126726;25127057;25418920;25484072;25568151;25576301;25645385;25684205;25802875;26154972;26347139;26929408;26992070;27846572;28228285;28467828;28832583;28834231;28904123;29242379;29420192;29493099;29557506;29786170;30315122;30429286;30661429;30779550;31006538;31154438;31222486;31722778;31844290;31848261;31998317;32157095;32315611;32350084;32357974;32387766;32488085;32502341;32620754;32897882;32938616;32983136;33091337;33141586;33298915;33392160;33537174;33592498;33717175;33909989;33912179;33968037;33981976;34087483;34185709;34338405;34357683;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36215666;36241641;36284347;36481789;37252361;37434364;37478627;37987447;39284914;7628435;9892355", "class_list": "", "function": "ATG4B antagonizes antiviral immunity by GABARAP-directed autophagic degradation of TBK1., [RefSeq, PubMed]; Gamma-aminobutyric acid A receptors [GABA(A) receptors] are ligand-gated chloride channels that mediate inhibitory neurotransmission. This gene encodes GABA(A) receptor-associated protein, which is highly positively charged in its N-terminus and shares sequence similarity with light chain-3 of microtubule-associated proteins 1A and 1B. This protein clusters neurotransmitter receptors by mediating interaction with the cytoskeleton. [provided by RefSeq, Jul 2008]., [RefSeq]; METTL3 promotes hyperoxia-induced pyroptosis in neonatal bronchopulmonary dysplasia by inhibiting ATG8-mediated autophagy. Publication Status: Online-Only, [RefSeq, PubMed]; Microautophagy regulated by STK38 and GABARAPs is essential to repair lysosomes and prevent aging., [RefSeq, PubMed]; Ubiquitin-like modifier that plays a role in intracellular transport of GABA(A) receptors and its interaction with the cytoskeleton (PubMed:9892355). Involved in autophagy: 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:15169837, PubMed:20562859, PubMed:22948227). 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:31006538). Also required for the local activation of the CUL3(KBTBD6/7) E3 ubiquitin ligase complex, regulating ubiquitination and degradation of TIAM1, a guanyl-nucleotide exchange factor (GEF) that activates RAC1 and downstream signal transduction (PubMed:25684205). Thereby, regulates different biological processes including the organization of the cytoskeleton, cell migration and proliferation (PubMed:25684205). Involved in apoptosis (PubMed:15977068). Participates in selective ER-phagy through interaction with UBAC2, promoting recruitment of UBAC2-associated ER fragments to autophagosomes (PubMed:39284914)., [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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 8, "reported_glycation": 0, "reported_snv": 0, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0031625 ubiquitin protein ligase binding;GO:0008429 phosphatidylethanolamine binding;GO:0048487 beta-tubulin binding;GO:0050811 GABA receptor binding", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0000139 Golgi membrane;GO:0000421 autophagosome membrane;GO:0005790 smooth endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0000045 autophagosome assembly;GO:0015031 protein transport;GO:0006605 protein targeting;GO:0007268 chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 15.5, "record_id": "O95166-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07741-1", "uniprot_id": [ { "id": "APT_HUMAN", "url": "https://www.uniprot.org/uniprot/P07741", "type": "external" } ], "mass": 19608.0, "length": 180, "protein_name": "Adenine phosphoribosyltransferase", "gene_name": "APRT", "organism": "Human", "refseq_name": "adenine phosphoribosyltransferase isoform a", "refseq_ac": [ { "id": "NP_000476", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000476", "type": "external" } ], "gene_names_uniprotkb": "APRT", "gene_names_refseq": "AMP; APRTD; APRT", "protein_names_uniprotkb": "Adenine phosphoribosyltransferase; 2.4.2.7; APRT", "protein_names_refseq": "AMP diphosphorylase; AMP pyrophosphorylase; adenine phosphoribosyltransferase isoform a; transphosphoribosidase", "tax_id": 9606, "disease": "adenine phosphoribosyltransferase deficiency (Disease Ontology:DOID:0060350); Lesch-Nyhan syndrome (Disease Ontology:DOID:1919); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:353); (R-HSA-6798695); (R-HSA-74217); (R-HSA-9734195)", "pathway_count": 4, "publication_count": 102, "publication_id_list": "11237011;11243733;11427893;12009299;12665801;1353080;1429593;15196008;15571218;16359702;1746557;18399692;19369195;19608861;20112406;2104852;21635362;21755941;218932;22223895;22299025;22700886;227870;23186163;23650620;24275569;24714562;2539852;25418920;25502872;26154972;26375851;26811146;26992070;27846572;28218747;2844225;2845866;28467828;28832583;28904123;29242379;29314611;29317506;29393594;29437277;29557506;29632046;29632711;29789417;2999129;3029074;30315122;30573663;30779550;31020640;31154438;31160323;31530632;3182793;31844290;32144205;32157095;32265295;32350084;32387766;32502341;32938616;32983136;33043033;33392160;3343350;33592498;33707627;33912179;33936100;33968037;34019948;34357683;34932366;35051231;35138101;35154160;35251023;3531209;3554238;35580925;36433728;3680503;3684585;38665916;457664;6281270;6300847;6771276;7915931;865583;8692836;8692979;9804782;9843365;9857047", "class_list": "", "function": "Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency., [RefSeq, PubMed]; Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma., [RefSeq, PubMed]; Binding to hAPRT is substrate shape-specific in the forward reaction, whereas it is base-specific in the reverse reaction. The forward reaction is mainly a nucleophilic substitution of type 2 (SN2) with a mix of SN1-type molecular mechanism. Based on our structural analysis, a magnesium-assisted SN2-type mechanism would be involved in the reverse reaction., [RefSeq, PubMed]; Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis., [UniProtKB, PubMed, 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": 6, "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": "G5E9J2;Q3KP55;Q68DF9", "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": "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": "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": "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": "2.7.11.1", "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": "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": "2.4.1.186", "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": "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": "2.7.11.24", "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:0016208 AMP binding;GO:0002055 adenine binding;GO:0003999 adenine phosphoribosyltransferase activity;GO:1901363 heterocyclic compound binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0034774 secretory granule lumen;GO:0070062 extracellular exosome", "go_biological_process": "GO:0044209 AMP salvage;GO:0032264 IMP salvage;GO:0006166 purine ribonucleoside salvage;GO:0006168 adenine salvage", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "P07741-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95445-1", "uniprot_id": [ { "id": "APOM_HUMAN", "url": "https://www.uniprot.org/uniprot/O95445", "type": "external" } ], "mass": 21253.0, "length": 188, "protein_name": "Apolipoprotein M", "gene_name": "APOM", "organism": "Human", "refseq_name": "apolipoprotein M isoform 2", "refseq_ac": [ { "id": "NP_001243098", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243098", "type": "external" } ], "gene_names_uniprotkb": "APOM; G3A; HSPC336; NG20", "gene_names_refseq": "APOM; G3a; HSPC336; NG20; apo-M", "protein_names_uniprotkb": "Apolipoprotein M; Apo-M; ApoM; Protein G3a", "protein_names_refseq": "NG20-like protein; alternative name: G3a, NG20; apolipoprotein M isoform 2; protein G3a", "tax_id": 9606, "disease": "coronary artery disease (Disease Ontology:DOID:3393); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:55937); (R-HSA-975634)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "10052934;10531326;10769148;11060341;11181758;11237011;11274389;11418126;1279089;14656967;15146197;15358783;1542003;15583000;16200213;16335952;16939223;17525477;17644776;18087047;18279674;18295589;18460466;18507396;1856611;19014918;19139408;19159218;19733574;21106934;21851338;22299025;23090970;24106281;25502872;27920218;2793848;28904123;29314611;29391424;29557506;29671580;29741879;32387766;33043033;33912179;33936100;33968037;34357683;34407633;34433824;34775573;35051231;36335116;37074911;3714052;37211224;37490173;3942763;4345202;5057882;5675424;6420172;6961410;7683668;8017323;8384721;8728311;9888420;9920938;9925661", "class_list": "", "function": "ApoM suppresses kidney renal clear cell carcinoma growth and metastasis via the Hippo-YAP signaling pathway., [RefSeq, PubMed]; Apolipoprotein M and Sphingosine-1-Phosphate Receptor 1 Promote the Transendothelial Transport of High-Density Lipoprotein., [RefSeq, PubMed]; Association of apolipoprotein M and sphingosine-1-phosphate with brown adipose tissue after cold exposure in humans. Publication Status: Online-Only, [RefSeq, PubMed]; Plasma apolipoprotein M predicts overall survival in metastatic breast cancer patients., [RefSeq, PubMed]; Probably involved in lipid transport. Can bind sphingosine-1-phosphate, myristic acid, palmitic acid and stearic acid, retinol, all-trans-retinoic acid and 9-cis-retinoic acid., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The effects and possible mechanism of action of apolipoprotein M on the growth of breast cancer cells., [RefSeq, PubMed]; The protein encoded by this gene is an apolipoprotein and member of the lipocalin protein family. It is found associated with high density lipoproteins and to a lesser extent with low density lipoproteins and triglyceride-rich lipoproteins. The encoded protein is secreted through the plasma membrane but remains membrane-bound, where it is involved in lipid transport. Alternate splicing results in both coding and non-coding variants of this gene. [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": 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": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 8593, "biomarker_type": "", "glycan_count": 44, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B0UX98;Q5SRP4;Q9P046;Q9UMP6", "ec_number_list": [], "go_molecular_function": "GO:0005319 lipid transporter activity;GO:0005543 phospholipid binding;GO:0016209 antioxidant activity;GO:0140104 molecular carrier activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0034364 high-density lipoprotein particle;GO:0034361 very-low-density lipoprotein particle;GO:0034366 spherical high-density lipoprotein particle;GO:0034362 low-density lipoprotein particle", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0033344 cholesterol efflux;GO:0034375 high-density lipoprotein particle remodeling;GO:0042632 cholesterol homeostasis;GO:0043691 reverse cholesterol transport", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "O95445-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18847-1", "uniprot_id": [ { "id": "ATF3_HUMAN", "url": "https://www.uniprot.org/uniprot/P18847", "type": "external" } ], "mass": 20576.0, "length": 181, "protein_name": "Cyclic AMP-dependent transcription factor ATF-3", "gene_name": "ATF3", "organism": "Human", "refseq_name": "cyclic AMP-dependent transcription factor ATF-3 isoform 1", "refseq_ac": [ { "id": "NP_001025458", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025458", "type": "external" } ], "gene_names_uniprotkb": "ATF3", "gene_names_refseq": "ATF3", "protein_names_uniprotkb": "Cyclic AMP-dependent transcription factor ATF-3; Activating transcription factor 3; cAMP-dependent transcription factor ATF-3", "protein_names_refseq": "cAMP-dependent transcription factor ATF-3; cyclic AMP-dependent transcription factor ATF-3 isoform 1; cyclic AMP-dependent transcription factor ATF-3", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); pulmonary tuberculosis (Disease Ontology:DOID:2957)", "pathway": " (hsa:467); (R-HSA-380994); (R-HSA-9633012); (R-HSA-9648895); (R-HSA-9909649)", "pathway_count": 5, "publication_count": 73, "publication_id_list": "10958673;10982836;11018027;11163539;11237011;11241327;11677247;11691921;12034827;12881527;1400365;14630918;14742429;14759258;15385533;15775988;15781252;16026328;16687408;16912112;16931790;16989641;17140605;17267404;17726049;18055463;18285520;18840095;19088198;19136462;20022965;20361218;20423929;22802018;22819556;22978410;23186163;23269699;23876217;2516827;25865756;25931127;26375851;2663993;2664463;27526673;28814160;28832583;28904123;29242379;29413899;29463886;29485866;29786170;30385408;30804176;31844290;32157095;32183950;3260265;32860047;32938616;32983136;33981976;34171305;35051231;35494241;35580925;38857714;7515060;8336711;9153226;9211906", "class_list": "", "function": "ATF3 isoforms have a role in the transcriptional regulation of the ASNS gene in response to nutrient deprivation, [RefSeq, PubMed]; Activates transcription presumably by sequestering inhibitory cofactors away from the promoters., [UniProtKB, PubMed]; An alternatively spliced isoform of transcriptional repressor ATF3 and its induction by stress stimuli., [RefSeq, PubMed]; In human prostate and Hodgkin Reed-Sternberg cancer cells with elevated expression of ATF3, the P1 promoter was constitutively activated and its chromatin structure was modified into active configuration., [RefSeq, PubMed]; LINC00894 inhibited neuron cellular apoptosis and regulated activating transcription factor 3 expression., [RefSeq, PubMed]; Stress-induced isoform, counteracts the transcriptional repression of isoform 1., [UniProtKB, PubMed]; This gene encodes a member of the mammalian activation transcription factor/cAMP responsive element-binding (CREB) protein family of transcription factors. This gene is induced by a variety of signals, including many of those encountered by cancer cells, and is involved in the complex process of cellular stress response. Multiple transcript variants encoding different isoforms have been found for this gene. It is possible that alternative splicing of this gene may be physiologically important in the regulation of target genes. [provided by RefSeq, Apr 2011]., [RefSeq]; This protein binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3'), a sequence present in many viral and cellular promoters. Represses transcription from promoters with ATF sites. It may repress transcription by stabilizing the binding of inhibitory cofactors at the promoter., [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": 2, "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": "Q5VTZ2;Q6ICQ9;Q7Z566;Q8WYM6", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000785 chromatin;GO:1990622 CHOP-ATF3 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:0008284 positive regulation of cell population proliferation;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "P18847-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51689-1", "uniprot_id": [ { "id": "ARSD_HUMAN", "url": "https://www.uniprot.org/uniprot/P51689", "type": "external" } ], "mass": 64860.0, "length": 593, "protein_name": "Arylsulfatase D", "gene_name": "ARSD", "organism": "Human", "refseq_name": "arylsulfatase D isoform alpha precursor", "refseq_ac": [ { "id": "NP_001660", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001660", "type": "external" } ], "gene_names_uniprotkb": "ARSD", "gene_names_refseq": "ARSD; ASD", "protein_names_uniprotkb": "Arylsulfatase D; 3.1.6.-; ASD", "protein_names_refseq": "arylsulfatase D isoform alpha precursor; testis tissue sperm-binding protein Li 39a", "tax_id": 9606, "disease": "", "pathway": " (hsa:414); (R-HSA-1663150); (R-HSA-9840310)", "pathway_count": 3, "publication_count": 132, "publication_id_list": "10191093;10196694;10406958;10781797;10823942;10861246;10942779;10993717;11177574;11237011;11350180;11489889;11707436;11784319;12374214;12510003;12518053;12566438;12594539;12662933;12757705;12757706;12885774;12888274;12909021;1352293;1352993;14563551;15003450;15213228;15458386;15657036;15708861;15714521;15773042;15845354;15962010;16229686;16230343;1634229;16368756;16478472;16517606;16595074;16698036;1670590;1678251;17105727;1718266;1720305;1740330;1756715;1840600;18524657;1889421;1907800;1915858;19159218;19405096;19836391;2001789;20112406;20728381;22820137;23481700;235289;239890;24715725;2562955;2717620;28126847;28411811;29242379;29393594;29443946;29557506;2960521;2965147;29692406;2970528;2971395;29741879;29747811;2976757;29786170;29802621;3014515;30429286;3048308;30833945;31154438;3136930;31495489;3158659;31844290;31848261;32157095;32387766;32938616;33099917;34171305;3456607;34725332;37074911;37340703;39940;5135907;5164093;527942;5822067;7504405;7628016;7720070;7730378;7744740;7852280;8281145;8370580;8399327;8573994;8591035;8663398;8681943;8804427;8889578;8955159;8985184;9217013;9338580;9520418;9521684;9699462", "class_list": "glycogene", "function": "ARSD protein level and IGVH were independently associated with the need for therapy of chronic lymphocytic leukemia patients., [RefSeq, PubMed]; ARSD, a novel ERalpha downstream target gene, inhibits proliferation and migration of breast cancer cells via activating Hippo/YAP pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Evaluation of Arylsulfatase D (ARSD) and long noncoding RNA ARSD-AS1 gene expression in breast cancer patients and their association with oncogenic transcription factors., [RefSeq, PubMed]; The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. The encoded protein is postranslationally glycosylated and localized to the lysosome. This gene is located within a cluster of similar arylsulfatase genes on chromosome X. A related pseudogene has been identified in the pseudoautosomal region of chromosome Y. [provided by RefSeq, Jul 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": 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": 591, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q9UHJ8", "ec_number_list": [ { "id": "3.1.6.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.2", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.1.6.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.-", "type": "external" }, { "id": "3.1.6.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.1", "type": "external" }, { "id": "3.1.6.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.18", "type": "external" }, { "id": "1.8.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.7", "type": "external" }, { "id": "3.1.6.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.15", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004065 arylsulfatase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0005764 lysosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "P51689-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4LE39-1", "uniprot_id": [ { "id": "ARI4B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4LE39", "type": "external" } ], "mass": 147809.0, "length": 1312, "protein_name": "AT-rich interactive domain-containing protein 4B", "gene_name": "ARID4B", "organism": "Human", "refseq_name": "AT-rich interactive domain-containing protein 4B isoform 1", "refseq_ac": [ { "id": "NP_001193723", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193723", "type": "external" } ], "gene_names_uniprotkb": "ARID4B; BRCAA1; RBBP1L1; RBP1L1; SAP180", "gene_names_refseq": "ARID4B; BCAA; BRCAA1; RBBP1L1; RBP1L1; SAP180", "protein_names_uniprotkb": "AT-rich interactive domain-containing protein 4B; 180 kDa Sin3-associated polypeptide; ARID domain-containing protein 4B; Breast cancer-associated antigen BRCAA1; Histone deacetylase complex subunit SAP180; Retinoblastoma-binding protein 1-like 1; Sin3-associated polypeptide p180", "protein_names_refseq": "180 kDa Sin3-associated polypeptide; ARID domain-containing protein 4B; AT rich interactive domain 4B (RBP1-like); AT-rich interactive domain-containing protein 4B isoform 1; Rb-binding protein homolog; SIN3A-associated protein 180; breast cancer-associated antigen 1; breast cancer-associated antigen BRCAA1; breast carcinoma-associated antigen; histone deacetylase complex subunit SAP180; retinoblastoma-binding protein 1-like 1; sin3-associated polypeptide p180", "tax_id": 9606, "disease": "", "pathway": " (hsa:51742); (R-HSA-3214815); (R-HSA-427413); (R-HSA-9679191)", "pathway_count": 4, "publication_count": 125, "publication_id_list": "10087012;10444591;10449787;10471499;10748112;10904264;10922406;10926844;11237011;11481388;11509652;11739383;11742974;11909966;12032298;12724404;14610093;15247124;16115318;16522641;17043311;17081983;17211407;17355984;17662961;18452278;18669648;18691976;19413330;19415658;19651622;19690332;19838300;20068231;20223979;21406692;21587264;22401777;22544926;22552008;22645359;22814904;23186163;23301498;23481700;23641311;24272870;24584101;24714562;24715725;25218447;25576301;25645385;25755297;25772364;25801024;25916849;26002965;26101246;26154972;26728094;26992070;27397612;27600516;27846572;27862975;27920218;28218747;28228285;28425720;28832583;28834231;28904123;29242379;29393594;29437277;29477868;29493099;29508533;29557506;29632046;29632711;29786170;29797600;29945920;30201761;30315122;30379171;30429286;30524438;31048504;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32807692;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33912179;33936100;33968037;34171305;34211107;34509645;35051231;35561310;35580925;36010968;36215666;36241641;37938771;7513682;7597036;9150135;9651585;9790534", "class_list": "", "function": "ARID4A and ARID4B may play the role as tumor suppressor gene in prostate cancer by inhibiting cell proliferation, migration, and invasion. Moreover, co-downregulation of ARID4A and ARID4B can predict poorer prognosis in prostate cancer, suggesting they might be the novel marker of prognosis and potential therapeutic targets for prostate cancer in human., [RefSeq, PubMed]; Acts as a transcriptional repressor (PubMed:12724404). May function in the assembly and/or enzymatic activity of the Sin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes (PubMed:12724404). Plays a role in the regulation of epigenetic modifications at the PWS/AS imprinting center near the SNRPN promoter, where it might function as part of a complex with RB1 and ARID4A. Involved in spermatogenesis, together with ARID4A, where it functions as a transcriptional coactivator for AR (androgen receptor) and enhances expression of genes required for sperm maturation. Regulates expression of the tight junction protein CLDN3 in the testis, which is important for integrity of the blood-testis barrier. Plays a role in myeloid homeostasis where it regulates the histone methylation state of bone marrow cells and expression of various genes involved in hematopoiesis. May function as a leukemia suppressor (By similarity)., [UniProtKB, PubMed, UniProtKB]; Acts as a transcriptional repressor. May function in the assembly and/or enzymatic activity of the Sin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes. Plays a role in the regulation of epigenetic modifications at the PWS/AS imprinting center near the SNRPN promoter, where it might function as part of a complex with RB1 and ARID4A. Involved in spermatogenesis, together with ARID4A, where it functions as a transcriptional coactivator for AR (androgen receptor) and enhances expression of genes required for sperm maturation. Regulates expression of the tight junction protein CLDN3 in the testis, which is important for integrity of the blood-testis barrier. Plays a role in myeloid homeostasis where it regulates the histone methylation state of bone marrow cells and expression of various genes involved in hematopoiesis. May function as a leukemia suppressor., [UniProtKB, UniProtKB]; Circ-SMARCA5 suppresses colorectal cancer progression via downregulating miR-39-3p and upregulating ARID4B., [RefSeq, PubMed]; MiR-519b-3p directly binds to the 3' UTR of ARID4B mRNA whose expression was inversely correlated with miR-519b-3p expression., [RefSeq, PubMed]; This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor complex, which functions in diverse cellular processes including proliferation, differentiation, apoptosis, oncogenesis, and cell fate determination. The gene product is recognized by IgG antibody isolated from a breast cancer patient and appears to be a molecular marker associated with a broad range of human malignancies. 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A1L465;Q3MHV4;Q5HY99;Q5T2C2;Q5T2C3;Q5T2C4;Q5T2C5;Q5T2C6;Q6P600;Q86UX1;Q86WR4;Q9H915;Q9NYU3;Q9NZB6;Q9NZG4;Q9P2W4;Q9UF62;Q9Y6E1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "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:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q4LE39-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00797-1", "uniprot_id": [ { "id": "RENI_HUMAN", "url": "https://www.uniprot.org/uniprot/P00797", "type": "external" } ], "mass": 45057.0, "length": 406, "protein_name": "Renin", "gene_name": "REN", "organism": "Human", "refseq_name": "renin preproprotein", "refseq_ac": [ { "id": "NP_000528", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000528", "type": "external" } ], "gene_names_uniprotkb": "REN", "gene_names_refseq": "ADTKD4; HNFJ2; REN; RTD", "protein_names_uniprotkb": "Renin; 3.4.23.15; Angiotensinogenase", "protein_names_refseq": "angiotensin-forming enzyme; angiotensinogenase; renin precursor, renal; renin preproprotein", "tax_id": 9606, "disease": "congenital adrenal hyperplasia (Disease Ontology:DOID:0050811); atrial fibrillation (Disease Ontology:DOID:0060224); autosomal dominant tubulointerstitial kidney disease 4 (Disease Ontology:DOID:0061119); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); human cytomegalovirus infection (Disease Ontology:DOID:0080827); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); hand, foot and mouth disease (Disease Ontology:DOID:10881); primary biliary cholangitis (Disease Ontology:DOID:12236); toxic shock syndrome (Disease Ontology:DOID:14115); renovascular hypertension (Disease Ontology:DOID:1591); depressive disorder (Disease Ontology:DOID:1596); acute kidney failure (Disease Ontology:DOID:3021); primary hyperaldosteronism (Disease Ontology:DOID:446); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); chronic fatigue syndrome (Disease Ontology:DOID:8544); obesity (Disease Ontology:DOID:9970); renal tubular dysgenesis of genetic origin (MONDO:MONDO:0009970)", "pathway": " (hsa:5972); (R-HSA-2022377)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "10536878;10899625;10924499;10969042;11237011;11502696;11815627;12045255;12540854;12927775;14747736;15283675;1608447;16116425;1637829;1668266;16790432;17138938;17704566;1848554;1851160;19664745;19800993;2016271;20380117;20889553;20927107;22193701;2266130;23446738;24141856;2443571;2450977;24715725;2493678;2540188;2558510;2708524;2846041;3017438;3032746;31844290;32157095;32387766;32488085;32983136;33968037;35051231;3516796;3530608;35318648;35580925;36481346;37569338;383475;38509149;38622720;39127136;4289389;4322712;4330891;4360430;6138751;6269175;6270633;6303766;6324167;6391881;6807977;7980644;8038170;9169443;9570564", "class_list": "", "function": "Counter-regulatory renin-angiotensin system in hypertension: Review and update in the era of COVID-19 pandemic. Review article, [RefSeq, PubMed]; Glaucoma and the ocular renin-angiotensin-aldosterone system: Update on molecular signalling and treatment perspectives. Review article, [RefSeq, PubMed]; Plasma renin as a novel prognostic biomarker of sepsis-associated acute respiratory distress syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Renin is a highly specific endopeptidase, whose only known function is to generate angiotensin I from angiotensinogen in the plasma, initiating a cascade of reactions that produce an elevation of blood pressure and increased sodium retention by the kidney., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The Relationship between Renin-Angiotensin-Aldosterone System (RAAS) Activity, Osteoporosis and Estrogen Deficiency in Type 2 Diabetes. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The role of the brain renin-angiotensin system in Parkinson s disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes renin, an aspartic protease that is secreted by the kidneys. Renin is a part of the renin-angiotensin-aldosterone system involved in regulation of blood pressure, and electrolyte balance. This enzyme catalyzes the first step in the activation pathway of angiotensinogen by cleaving angiotensinogen to form angiotensin I, which is then converted to angiotensin II by angiotensin I converting enzyme. This cascade can result in aldosterone release, narrowing of blood vessels, and increase in blood pressure as angiotension II is a vasoconstrictive peptide. Transcript variants that encode different protein isoforms and that arise from alternative splicing and the use of alternative promoters have been described, but their full-length nature has not been determined. Mutations in this gene have been shown to cause hyperuricemic nephropathy familial juvenile 2, familial hyperproreninemia, and renal tubular dysgenesis. [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": 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": 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": 12, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 32, "disease_count": 20, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q6FI38;Q6T5C2", "ec_number_list": [ { "id": "3.4.23.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.15", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" } ], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005159 insulin-like growth factor receptor binding;GO:0008233 peptidase activity;GO:0004190 aspartic-type endopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0045177 apical part of cell", "go_biological_process": "GO:0006508 proteolysis;GO:0032496 response to lipopolysaccharide;GO:0001822 kidney development;GO:0002003 angiotensin maturation;GO:0008217 regulation of blood pressure", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "P00797-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q66K89-1", "uniprot_id": [ { "id": "E4F1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q66K89", "type": "external" } ], "mass": 83496.0, "length": 784, "protein_name": "Transcription factor E4F1", "gene_name": "E4F1", "organism": "Human", "refseq_name": "transcription factor E4F1 isoform 3", "refseq_ac": [ { "id": "NP_001275707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275707", "type": "external" } ], "gene_names_uniprotkb": "E4F1; E4F", "gene_names_refseq": "E4F1; E4F", "protein_names_uniprotkb": "Transcription factor E4F1; 2.3.2.27; E4F transcription factor 1; Putative E3 ubiquitin-protein ligase E4F1; RING-type E3 ubiquitin transferase E4F1; Transcription factor E4F; p120E4F; p50E4F", "protein_names_refseq": "RING-type E3 ubiquitin transferase E4F1; p120E4F; p50E4F; putative E3 ubiquitin-protein ligase E4F1; transcription factor E4F1 isoform 3; transcription factor E4F1", "tax_id": 9606, "disease": "", "pathway": " (hsa:1877)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "10373523;10608806;10644996;10869426;11237011;11283272;12446718;12730668;14645522;14729613;15579445;15805267;15876874;16112766;16652157;16882984;17110336;17557114;19690332;20068231;22645359;23481700;25576301;26992070;28514659;28832583;28904123;29242379;29493099;29557506;29789417;30315122;30429286;30484775;30506647;31092671;31217245;31844290;32157095;32357974;32387766;32488085;32938616;32983136;33298915;33633747;33692124;33936100;33968037;34171305;34509645;34857760;35051231;35580925;36010968;36012478;36215666;36241641;37774036;9121437;9418893;9512539;9530632", "class_list": "", "function": "E4F1 silencing inhibits the cell growth through cell-cycle arrest in malignant transformed cells induced by hydroquinone, [RefSeq, PubMed]; Identified as a cellular target of the adenoviral oncoprotein E1A, it is required for both transcriptional activation and repression of viral genes., [UniProtKB]; May function as a transcriptional repressor. May also function as a ubiquitin ligase mediating ubiquitination of chromatin-associated TP53. Functions in cell survival and proliferation through control of the cell cycle. Functions in the p53 and pRB tumor suppressor pathways and regulates the cyclin CCNA2 transcription., [UniProtKB, UniProtKB, UniProtKB]; Multi-Level Control of the ATM/ATR-CHK1 Axis by the Transcription Factor E4F1 in Triple-Negative Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The multifunctional protein E4F1 links P53 to lipid metabolism in adipocytes. Publication Status: Online-Only, [RefSeq, PubMed]; The zinc finger protein encoded by this gene is one of several cellular transcription factors whose DNA-binding activities are regulated through the action of adenovirus E1A. A 50-kDa amino-terminal product is generated from the full-length protein through proteolytic cleavage. The protein is differentially regulated by E1A-induced phosphorylation. The full-length gene product represses transcription from the E4 promoter in the absence of E1A, while the 50-kDa form acts as a transcriptional activator in its presence. Alternative splicing results in multiple transcripts encoding different proteins. [provided by RefSeq, Jan 2014]., [RefSeq]; Transcription factor E4F1 as a regulator of cell life and disease progression. Review article, [RefSeq, PubMed]; Zinc finger protein E4F1 cooperates with PARP-1 and BRG1 to promote DNA double-strand break repair., [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": 7, "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": "A8K2R4;O00146", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase 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_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005819 spindle", "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:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q66K89-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58753-1", "uniprot_id": [ { "id": "TIRAP_HUMAN", "url": "https://www.uniprot.org/uniprot/P58753", "type": "external" } ], "mass": 23883.0, "length": 221, "protein_name": "Toll/interleukin-1 receptor domain-containing adapter protein", "gene_name": "TIRAP", "organism": "Human", "refseq_name": "toll/interleukin-1 receptor domain-containing adapter protein isoform a", "refseq_ac": [ { "id": "NP_001034750", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034750", "type": "external" } ], "gene_names_uniprotkb": "TIRAP; MAL", "gene_names_refseq": "BACTS1; Mal; MyD88-2; TIRAP; wyatt", "protein_names_uniprotkb": "Toll/interleukin-1 receptor domain-containing adapter protein; Adaptor protein Wyatt; MyD88 adapter-like protein; MyD88-2; TIR domain-containing adapter protein", "protein_names_refseq": "MyD88 adapter-like protein; Toll-like receptor adaptor protein; adapter protein wyatt; adaptor protein Wyatt; toll-interleukin 1 receptor (TIR) domain containing adaptor protein; toll/interleukin-1 receptor domain-containing adapter protein isoform a; toll/interleukin-1 receptor domain-containing adapter protein", "tax_id": 9606, "disease": "malaria (Disease Ontology:DOID:12365); tuberculosis (Disease Ontology:DOID:399); Mycobacterium tuberculosis, susceptibility (MONDO:MONDO:0000070); bacteremia, susceptibility to, 1 (MONDO:MONDO:0013723); malaria, susceptibility to (MONDO:MONDO:0021024)", "pathway": " (hsa:114609); (R-HSA-1236974); (R-HSA-166058); (R-HSA-5602498); (R-HSA-5603041)", "pathway_count": 5, "publication_count": 78, "publication_id_list": "10465784;11237011;11526399;11544529;11960013;12083783;12138165;12140561;12297423;12447441;12447442;12637671;12724322;14530355;14625308;15585605;15944945;16024789;16415872;16439361;16751103;17141195;17322885;17485511;17726518;17878161;17878374;17890055;17893200;18070880;18070982;18292575;18305471;18438411;18669862;18692471;18810425;18829464;19217269;19224918;19498957;19506249;19509286;19592493;19592497;19602285;19948740;20400509;20485341;20822478;20966070;21606490;21829704;21873236;22153078;22454496;23613522;24265315;24275656;24316379;24840642;25083866;27311859;28225045;29434596;29485866;30115681;30379171;34572591;34995294;35051231;35379857;36011276;36792369;37648490;8837778;9008162;9430229", "class_list": "", "function": "A role for TIRAP in mediating LPS-induced NF-kappaB activation and apoptosis in human endothelial cells, [RefSeq, PubMed]; ALKBH5-mediated m[6] A demethylation of TIRAP mRNA promotes radiation-induced liver fibrosis and decreases radiosensitivity of hepatocellular carcinoma., [RefSeq, PubMed]; Adapter involved in TLR2, TLR4 and RAGE signaling pathways in the innate immune response. Acts via IRAK2 and TRAF-6, leading to the activation of NF-kappa-B, MAPK1, MAPK3 and JNK, and resulting in cytokine secretion and the inflammatory response. Positively regulates the production of TNF (TNF) and interleukin-6 (IL6)., [UniProtKB, PubMed, PubMed, PubMed]; Association of genetic variations in ACE2, TIRAP and factor X with outcomes in COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic Impact of Genetic Variants of MECP2 and TIRAP on Clinical Outcomes of Systemic Lupus Erythematosus with and without Nephritis. Publication Status: Online-Only, [RefSeq, PubMed]; Role of MyD88-Adaptor-Like (MAL) Gene Polymorphism rs8177374 and Cytokine (IFN-gamma, TNF-alpha, IL-10, TGF-beta) Levels in Diverse Malaria Manifestations upon P. falciparum and P. vivax Infections., [RefSeq, PubMed]; TIRAP Rs8177376, Rs611953, Rs3802814, and Rs8177374 Polymorphisms and Their Association with Cervical Cancer Phenotype and Prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; The innate immune system recognizes microbial pathogens through Toll-like receptors (TLRs), which identify pathogen-associated molecular patterns. Different TLRs recognize different pathogen-associated molecular patterns and all TLRs have a Toll-interleukin 1 receptor (TIR) domain, which is responsible for signal transduction. The protein encoded by this gene is a TIR adaptor protein involved in the TLR4 signaling pathway of the immune system. It activates NF-kappa-B, MAPK1, MAPK3 and JNK, which then results in cytokine secretion and the inflammatory response. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully 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": 10, "reported_mutagensis": 1, "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": "B3KW65;Q56UH9;Q56UI0;Q8N5E5", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0005080 protein kinase C binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0031234 extrinsic component of cytoplasmic side of plasma membrane", "go_biological_process": "GO:0034141 positive regulation of toll-like receptor 3 signaling pathway;GO:0032648 regulation of interferon-beta production;GO:0071221 cellular response to bacterial lipopeptide;GO:0006954 inflammatory response;GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "P58753-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3A6-1", "uniprot_id": [ { "id": "TMED5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3A6", "type": "external" } ], "mass": 26005.0, "length": 229, "protein_name": "Transmembrane emp24 domain-containing protein 5", "gene_name": "TMED5", "organism": "Human", "refseq_name": "transmembrane emp24 domain-containing protein 5 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001161302", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161302", "type": "external" } ], "gene_names_uniprotkb": "TMED5; CGI-100; PRO733", "gene_names_refseq": "CGI-100; TMED5; p24g2; p28", "protein_names_uniprotkb": "Transmembrane emp24 domain-containing protein 5; p24 family protein gamma-2; p24gamma2; p28", "protein_names_refseq": "p24 family protein gamma-2; p24gamma2; transmembrane emp24 domain-containing protein 5 isoform 2 precursor; transmembrane emp24 domain-containing protein 5; transmembrane emp24 protein transport domain containing 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:50999); (R-HSA-3238698)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10694878;11031247;11231171;11237011;11433298;12717451;12975309;16364628;16645052;16678095;16678096;17108000;17117926;17141155;17397399;18160347;18160348;18193032;18193037;18430724;18549622;19442504;19566487;19619488;19837038;19948005;20477987;20533886;20826466;21554866;21725318;21725319;21768372;21886182;22027831;22041890;22046319;22094269;22094272;22108505;22653731;22784633;22888000;22952392;22983114;23148298;23260141;23481700;24366607;24778190;25645385;26154972;26992070;27090790;27846572;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29508533;29557506;29632711;30315122;30779550;31530632;31844290;32350084;32387766;32502341;32938616;32983136;33298915;33592498;33717175;33968037;34404391;35051231;35251023;36010968;36241641;36530030;8167409;8262072;8985181", "class_list": "", "function": "Expression of cgi-100 mRNA decreased in a dose- and time-dependent manner in the K562 cells treated with matrine and over-expression of cgi-100 elevates the proliferation and the immaturity level of K562 cells., [RefSeq, PubMed]; Identification of a novel circ_0018289/miR-183-5p/TMED5 regulatory network in cervical cancer development. Publication Status: Online-Only, [RefSeq, PubMed]; Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Required for the maintenance of the Golgi apparatus; involved in protein exchange between Golgi stacks during assembly. Probably not required for COPI-vesicle-mediated retrograde transport., [UniProtKB, PubMed]; Silencing of TMED5 inhibits proliferation, migration and invasion, and enhances apoptosis of hepatocellular carcinoma cells., [RefSeq, PubMed]; The luminal alpha-helical but not GOLD domain of p24gamma2 was required for efficient GPI-AP 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B1AKT4;B2R703;D3DT38;Q96AX8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0030134 COPII-coated ER to Golgi transport vesicle;GO:0005789 endoplasmic reticulum membrane;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0090161 Golgi ribbon formation;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q9Y3A6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35638-1", "uniprot_id": [ { "id": "DDIT3_HUMAN", "url": "https://www.uniprot.org/uniprot/P35638", "type": "external" } ], "mass": 19175.0, "length": 169, "protein_name": "DNA damage-inducible transcript 3 protein", "gene_name": "DDIT3", "organism": "Human", "refseq_name": "DNA damage-inducible transcript 3 protein isoform 1", "refseq_ac": [ { "id": "NP_001181982", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181982", "type": "external" } ], "gene_names_uniprotkb": "DDIT3; CHOP10; CHOP; GADD153", "gene_names_refseq": "AltDDIT3; C/EBPzeta; CEBPZ; CHOP-10; CHOP10; CHOP; DDIT3; GADD153", "protein_names_uniprotkb": "DNA damage-inducible transcript 3 protein; C/EBP zeta; C/EBP-homologous protein 10; C/EBP-homologous protein; CCAAT/enhancer-binding protein homologous protein; CHOP-10; CHOP; DDIT-3; Growth arrest and DNA damage-inducible protein GADD153", "protein_names_refseq": "C/EBP zeta; CCAAT/enhancer-binding protein homologous protein; DNA damage-inducible transcript 3 protein isoform 1; alternative DDIT3 protein; c/EBP-homologous protein 10; growth arrest and DNA damage-inducible protein GADD153", "tax_id": 9606, "disease": "brain ischemia (Disease Ontology:DOID:2316); nephrosis (Disease Ontology:DOID:2527); pulmonary tuberculosis (Disease Ontology:DOID:2957); acute kidney failure (Disease Ontology:DOID:3021); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); borna disease (Disease Ontology:DOID:5154); ureteral obstruction (Disease Ontology:DOID:5199); myxoid liposarcoma (Disease Ontology:DOID:5363); pulmonary venoocclusive disease (Disease Ontology:DOID:5453); type 2 diabetes mellitus (Disease Ontology:DOID:9352); galactosemia (Disease Ontology:DOID:9870)", "pathway": " (hsa:1649); (R-HSA-380994); (R-HSA-381183); (R-HSA-9614657); (R-HSA-9633012); (R-HSA-9648895)", "pathway_count": 6, "publication_count": 114, "publication_id_list": "10102273;10958673;10982836;11018027;11163539;11237011;11241327;11677247;11691921;11777915;12876286;1339368;1400365;14576824;14630918;14685163;14701673;14742429;14973138;15322075;15385533;15509806;15775988;15781252;16026328;16434966;16687408;16912112;16931790;16943287;16959974;16989641;17140605;17267404;17709599;17726049;17872950;18055463;18158893;18285520;18840095;18940792;19672300;19855386;20022965;20361218;20423929;20829347;20876114;20978166;22210905;22412893;22544926;22761832;22802018;22819556;22898188;22978410;23269699;23481700;23707940;2377606;23876217;25505266;25576301;25645385;25931127;2663993;2664463;26715362;26992070;27526673;27561725;27600516;27650555;28228285;28814160;28832583;29242379;29413899;29533771;29557506;29632711;30340600;30779550;30804176;31019204;31844290;32157095;32387766;32488085;3260265;32938616;32983136;33141586;33392160;33592498;33936100;33968037;33981976;34405274;34509645;36241641;38671504;38726820;39097882;39456230;7503811;8336711;8510758;8650547;9153226;9211906;9837962", "class_list": "", "function": "A study on expression of GRP78 and CHOP in neutrophil endoplasmic reticulum and their relationship with neutrophil apoptosis in the development of sepsis., [RefSeq, PubMed]; Deciphering the role of FUS::DDIT3 expression and tumor microenvironment in myxoid liposarcoma development. Publication Status: Online-Only, [RefSeq, PubMed]; FUS::DDIT3 Fusion Protein in the Development of Myxoid Liposarcoma and Possible Implications for Therapy. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Multifunctional transcription factor in endoplasmic reticulum (ER) stress response (PubMed:15322075, PubMed:15775988, PubMed:19672300). Plays an essential role in the response to a wide variety of cell stresses and induces cell cycle arrest and apoptosis in response to ER stress (PubMed:15322075, PubMed:15775988). Plays a dual role both as an inhibitor of CCAAT/enhancer-binding protein (C/EBP) function and as an activator of other genes (By similarity). Acts as a dominant-negative regulator of C/EBP-induced transcription: dimerizes with members of the C/EBP family, impairs their association with C/EBP binding sites in the promoter regions, and inhibits the expression of C/EBP regulated genes (By similarity). Positively regulates the transcription of TRIB3, IL6, IL8, IL23, TNFRSF10B/DR5, PPP1R15A/GADD34, BBC3/PUMA, BCL2L11/BIM and ERO1L (PubMed:15775988, PubMed:17709599, PubMed:20876114, PubMed:22761832). Negatively regulates; expression of BCL2 and MYOD1, ATF4-dependent transcriptional activation of asparagine synthetase (ASNS), CEBPA-dependent transcriptional activation of hepcidin (HAMP) and CEBPB-mediated expression of peroxisome proliferator-activated receptor gamma (PPARG) (PubMed:18940792, PubMed:19672300, PubMed:20829347). Together with ATF4, mediates ER-mediated cell death by promoting expression of genes involved in cellular amino acid metabolic processes, mRNA translation and the unfolded protein response (UPR) in response to ER stress (By similarity). Inhibits the canonical Wnt signaling pathway by binding to TCF7L2/TCF4, impairing its DNA-binding properties and repressing its transcriptional activity (PubMed:16434966). Plays a regulatory role in the inflammatory response through the induction of caspase-11 (CASP4/CASP11) which induces the activation of caspase-1 (CASP1) and both these caspases increase the activation of pro-IL1B to mature IL1B which is involved in the inflammatory response (By similarity). Acts as a major regulator of postnatal neovascularization through regulation of endothelial nitric oxide synthase (NOS3)-related signaling (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Product of the upstream open reading frame (uORF) of DDIT3/CHOP that is specifically produced in absence of stress, thereby preventing translation of downstream stress effector DDIT3/CHOP., [UniProtKB, UniProtKB]; This gene encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/EBP and LAP (liver activator protein), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is activated by endoplasmic reticulum stress, and promotes apoptosis. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in myxoid liposarcomas or Ewing sarcoma. Multiple alternatively spliced transcript variants encoding two isoforms with different length have been identified. [provided by RefSeq, Aug 2010]., [RefSeq]; Transcription factor DDIT3 is a potential driver in pancreatic 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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 11, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "F8VS99", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0036488 CHOP-C/EBP complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0032700 negative regulation of interleukin-17 production;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:0010506 regulation of autophagy", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "P35638-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2G4-2", "uniprot_id": [ { "id": "ANKR6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2G4", "type": "external" } ], "mass": 79971.0, "length": 727, "protein_name": "Ankyrin repeat domain-containing protein 6", "gene_name": "ANKRD6", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 6 isoform a", "refseq_ac": [ { "id": "NP_001229738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229738", "type": "external" } ], "gene_names_uniprotkb": "ANKRD6; KIAA0957", "gene_names_refseq": "ANKRD6", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 6; Diversin", "protein_names_refseq": "ankyrin repeat domain-containing protein 6 isoform a; ankyrin repeat domain-containing protein 6; diego homolog; diversin; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:22881)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "19591803;24833088;24858714;25200652;26992070;34509645;36623636;38253038", "class_list": "", "function": "Diversin is overexpressed in human glioma and regulates glioma cell proliferation and invasion, possibly through MMP9, [RefSeq, PubMed]; Diversin upregulates the proliferative ability of colorectal cancer by inducing cell cycle proteins., [RefSeq, PubMed]; Diversin, containing several nuclear localization signals, translocates to the nucleus, where it interacts with the transcription factor AF9., [RefSeq, PubMed]; Missense mutations in ANKRD6 are associated with neural tube defects., [RefSeq, PubMed]; Recruits CKI-epsilon to the beta-catenin degradation complex that consists of AXN1 or AXN2 and GSK3-beta and allows efficient phosphorylation of beta-catenin, thereby inhibiting beta-catenin/Tcf signals., [UniProtKB]; Study demonstrated that diversin was overexpressed in human breast cancers. Diversin could contribute to breast cancer cell proliferation and invasion. Erratum:[PLoS One. 2014;9(12):e116045] 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": 21, "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": "B3KUC3;Q5JUJ4;Q5JUJ5;Q8IUQ8;Q9NU24;Q9UFQ9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0030111 regulation of Wnt signaling pathway;GO:0007163 establishment or maintenance of cell polarity", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9Y2G4-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95841-1", "uniprot_id": [ { "id": "ANGL1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95841", "type": "external" } ], "mass": 56720.0, "length": 491, "protein_name": "Angiopoietin-related protein 1", "gene_name": "ANGPTL1", "organism": "Human", "refseq_name": "angiopoietin-related protein 1 precursor", "refseq_ac": [ { "id": "NP_004664", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004664", "type": "external" } ], "gene_names_uniprotkb": "ANGPTL1; ANG3; ANGPT3; ARP1; PRO188; PSEC0154", "gene_names_refseq": "ANG3; ANGPT3; ANGPTL1; ARP1; AngY; UNQ162; dJ595C2.2", "protein_names_uniprotkb": "Angiopoietin-related protein 1; ANG-3; Angiopoietin-3; Angiopoietin-like protein 1", "protein_names_refseq": "ANG-3; angioarrestin; angiopoietin 3; angiopoietin Y1; angiopoietin-like protein 1; angiopoietin-related protein 1 precursor; angiopoietin-related protein 1; dJ595C2.2 (angiopoietin Y1)", "tax_id": 9606, "disease": "", "pathway": " (hsa:9068)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10025962;11237011;12975309;16303743;24715725;29557506;31103265;33097673;33413536;35475476;37074911;38150891", "class_list": "", "function": "ANGPTL1 attenuates cancer migration, invasion, and stemness through regulating FOXO3a-mediated SOX2 expression in colorectal cancer., [RefSeq, PubMed]; Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. The protein encoded by this gene is another member of the angiopoietin family that is widely expressed in adult tissues with mRNA levels highest in highly vascularized tissues. This protein was found to be a secretory protein that does not act as an endothelial cell mitogen in vitro. [provided by RefSeq, Jul 2008]., [RefSeq]; Exosomal ANGPTL1 attenuates colorectal cancer liver metastasis by regulating Kupffer cell secretion pattern and impeding MMP9 induced vascular leakiness. Publication Status: Online-Only, [RefSeq, PubMed]; Exosome-transmitted ANGPTL1 suppresses angiogenesis in glioblastoma by inhibiting the VEGFA/VEGFR2/Akt/eNOS pathway., [RefSeq, PubMed]; Respiratory traits and coal workers' pneumoconiosis: Mendelian randomisation and association analysis., [RefSeq, PubMed]; The findings demonstrate that lnc-ANGPTL1-3/miR-30a-3p/c-Maf axis plays a critical role in Multiple Myeloma bortezomib resistance., [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": 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": 19, "reported_interactions": 0, "missing_score": 9671, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5T5Z5", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007596 blood coagulation", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "O95841-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCL9-1", "uniprot_id": [ { "id": "APCDL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCL9", "type": "external" } ], "mass": 55635.0, "length": 501, "protein_name": "Protein APCDD1-like", "gene_name": "APCDD1L", "organism": "Human", "refseq_name": "protein APCDD1-like isoform 2", "refseq_ac": [ { "id": "NP_001291716", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291716", "type": "external" } ], "gene_names_uniprotkb": "APCDD1L", "gene_names_refseq": "APCDD1L", "protein_names_uniprotkb": "Protein APCDD1-like; Adenomatosis polyposis coli down-regulated 1 protein-like", "protein_names_refseq": "adenomatosis polyposis coli down-regulated 1 like; protein APCDD1-like isoform 2; protein APCDD1-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:164284)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;32157095;32938616;32983136;33592498;33968037;35051231;38665916", "class_list": "", "function": "", "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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0017147 Wnt-protein binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0030178 negative regulation of Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8NCL9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NH57-1", "uniprot_id": [ { "id": "ARL5C_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NH57", "type": "external" } ], "mass": 20591.0, "length": 179, "protein_name": "Putative ADP-ribosylation factor-like protein 5C", "gene_name": "ARL5C", "organism": "Human", "refseq_name": "putative ADP-ribosylation factor-like protein 5C", "refseq_ac": [ { "id": "NP_001137440", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137440", "type": "external" } ], "gene_names_uniprotkb": "ARL5C; ARL12", "gene_names_refseq": "ARL12; ARL5C", "protein_names_uniprotkb": "Putative ADP-ribosylation factor-like protein 5C; ADP-ribosylation factor-like protein 12", "protein_names_refseq": "ADP ribosylation factor like GTPase 5C; ADP-ribosylation factor-like 5C; ADP-ribosylation factor-like protein 12; putative ADP-ribosylation factor-like protein 5C", "tax_id": 9606, "disease": "", "pathway": " (hsa:390790)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "Binds and exchanges GTP and GDP., [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": 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:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport;GO:1903292 protein localization to Golgi membrane", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A6NH57-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NKF2-1", "uniprot_id": [ { "id": "ARI3C_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NKF2", "type": "external" } ], "mass": 44073.0, "length": 412, "protein_name": "AT-rich interactive domain-containing protein 3C", "gene_name": "ARID3C", "organism": "Human", "refseq_name": "AT-rich interactive domain-containing protein 3C isoform 1", "refseq_ac": [ { "id": "NP_001017363", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017363", "type": "external" } ], "gene_names_uniprotkb": "ARID3C", "gene_names_refseq": "ARID3C", "protein_names_uniprotkb": "AT-rich interactive domain-containing protein 3C; ARID domain-containing protein 3C", "protein_names_refseq": "ARID domain-containing protein 3C; AT rich interactive domain 3C (BRIGHT-like); AT-rich interactive domain-containing protein 3C isoform 1; AT-rich interactive domain-containing protein 3C; Brightlike", "tax_id": 9606, "disease": "", "pathway": " (hsa:138715)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;17400556;21955986;31844290;32157095;32983136;35051231;38231884", "class_list": "", "function": "This gene is a member of the ARID (AT-rich interaction domain) family of proteins. The ARID domain is a helix-turn-helix motif-based DNA-binding domain. ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]., [RefSeq]; This report introduces Brightlike as an additional functional member of the family of ARID proteins, which should be considered in regulatory circuits, previously ascribed to be mediated by Bright.[ARID3C], [RefSeq, PubMed]; Transcription factor involved in monocyte-to-macrophage differentiation. Forms a complex with NPM1 to translocate to the nucleus, acting as a transcription factor that promotes the expression of the genes involved in macrophage differentiation, such as STAT3, STAT1 and JUNB., [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": 1, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0045121 membrane raft", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030225 macrophage differentiation", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A6NKF2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MVX0-1", "uniprot_id": [ { "id": "ARG33_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MVX0", "type": "external" } ], "mass": 94633.0, "length": 844, "protein_name": "Rho guanine nucleotide exchange factor 33", "gene_name": "ARHGEF33", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 33 isoform 1", "refseq_ac": [ { "id": "NP_001138923", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138923", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF33", "gene_names_refseq": "ARHGEF33", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 33", "protein_names_refseq": "DH and coiled-coil domain-containing protein ENSP00000381780; Rho guanine nucleotide exchange factor (GEF) 33; rho guanine nucleotide exchange factor 33 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:100271715); (R-HSA-193648); (R-HSA-416482)", "pathway_count": 3, "publication_count": 41, "publication_id_list": "11237011;11283606;11294240;11313914;11742120;11756498;12097334;12101119;12123608;12433842;12515866;14673001;15470142;15699075;15749160;15951850;16212495;16923326;18374420;18577758;19212140;22661716;25414122;25892735;27072905;29393594;29557506;30007591;31154438;31217245;32157095;35051231;36010968;38253038;39894887;7937899;8617235;8816443;9308960;9520479;9796816", "class_list": "", "function": "May act as a guanine-nucleotide releasing factor., [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": 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": "J3KPX2", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "A8MVX0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQE5-1", "uniprot_id": [ { "id": "APOL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQE5", "type": "external" } ], "mass": 37078.0, "length": 337, "protein_name": "Apolipoprotein L2", "gene_name": "APOL2", "organism": "Human", "refseq_name": "apolipoprotein L2", "refseq_ac": [ { "id": "NP_112092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112092", "type": "external" } ], "gene_names_uniprotkb": "APOL2", "gene_names_refseq": "APOL-II; APOL2", "protein_names_uniprotkb": "Apolipoprotein L2; ApoL-II; Apolipoprotein L-II", "protein_names_refseq": "apolipoprotein L, 2; apolipoprotein L-II; apolipoprotein L2", "tax_id": 9606, "disease": "substance abuse (Disease Ontology:DOID:302); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:23780)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;11290834;11374903;11944986;15949655;18477386;18632255;18691976;20068231;20665705;23481700;24901046;25645385;25892735;26375851;26992070;28834231;30315122;30429286;30573663;30779550;30833945;31154438;31466081;31530632;31848261;31937595;32357974;33043033;34185709;34316015;36215666;36284347;36581221;37938771;40914422", "class_list": "", "function": "APOL2 has been found only in humans and African green monkeys, [RefSeq, PubMed]; An association of APOL1, 2 and 4 with schizophrenia was establised. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Apolipoprotein L2 contains a BH3-like domain but it does not behave as a BH3-only protein. Publication Status: Online-Only, [RefSeq, PubMed]; Epigenetic aging is accelerated in alcohol use disorder and regulated by genetic variation in APOL2., [RefSeq, PubMed]; May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results reveal a novel function for ApoL2 in conferring anti-apoptotic ability of human bronchial epithelium to the cytotoxic effects of IFN-gamma, in maintaining airway epithelial layer integrity., [RefSeq, PubMed]; Structures of the ApoL1 and ApoL2 N-terminal domains reveal a non-classical four-helix bundle motif. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B0QYK7;O95915;Q59GW9;Q5TH96;Q969T6;Q9BT28;Q9UGT1;Q9UH10", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0008289 lipid binding;GO:0008035 high-density lipoprotein particle binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006869 lipid transport;GO:0008203 cholesterol metabolic process;GO:0042157 lipoprotein metabolic process;GO:0006953 acute-phase response", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9BQE5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P84085-1", "uniprot_id": [ { "id": "ARF5_HUMAN", "url": "https://www.uniprot.org/uniprot/P84085", "type": "external" } ], "mass": 20530.0, "length": 180, "protein_name": "ADP-ribosylation factor 5", "gene_name": "ARF5", "organism": "Human", "refseq_name": "ADP-ribosylation factor 5", "refseq_ac": [ { "id": "NP_001653", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001653", "type": "external" } ], "gene_names_uniprotkb": "ARF5", "gene_names_refseq": "ARF5", "protein_names_uniprotkb": "ADP-ribosylation factor 5", "protein_names_refseq": "ADP ribosylation factor 5; ADP-ribosylation factor 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:381); (R-HSA-6807878); (R-HSA-6811434)", "pathway_count": 3, "publication_count": 177, "publication_id_list": "10022920;10052452;10318838;10445031;10559959;10679020;10761932;10903204;10921873;11035033;11172815;11237011;11285137;11306556;11461920;11493604;11689559;11703931;11726511;11739780;11748249;11950392;12047556;12070132;12388752;12634853;14504276;14654841;14742712;15029241;15037235;15272311;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16571679;16633337;16723730;1680566;16912714;16926190;16940185;17030804;17074750;17113389;17253781;17274799;17360540;17429068;17451557;17555535;17760859;17927562;17956946;18086915;18182008;18283113;18287528;18524849;18809720;1898986;19015319;19109418;19151722;19164740;19296914;19369418;1957170;19631211;19758564;1993656;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21219331;21550981;21689688;21844168;22013193;22094269;22304919;23396477;23481700;23839779;24119662;24715725;24806965;25255805;25364732;25418920;25436559;25492864;25576301;25645385;25810538;25880248;26000619;26374642;26992070;27397612;27600516;27846572;27920218;28228285;28510447;28649982;28832583;28834231;28904123;29242379;29314611;29317506;29393594;29557506;29632711;29786170;29789417;30315122;30429286;30524438;30779550;31844290;31848261;31998317;32157095;32387766;32502341;32938616;32983136;33298915;33443570;33592498;33717175;33968037;34171305;34357683;34509645;35051231;35083852;35154160;36010968;36241641;36735494;41293316;7691276;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8991093;9114004;9150144;9169151;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9671725;9751720;9990005", "class_list": "", "function": "(Microbial infection) Functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase., [UniProtKB]; An Arf/Rab cascade controls the growth and invasiveness of glioblastoma., [RefSeq, PubMed]; GTP-binding protein involved in protein trafficking. Contributes to vesicle budding and uncoating at the Golgi apparatus. Regulates mTORC1 activity at the plasma membrane by promoting its recruitment to membrane ruffles, facilitating activation via the PI3K/Akt signaling pathway (PubMed:36735494). Acts as an early responder to lysosomal damage and participates in lysosomal quality control pathways (PubMed:41293316)., [UniProtKB, PubMed, PubMed]; This gene is a member of the human ADP-ribosylation factor (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 1 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). The members of each class share a common gene organization. [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": 0, "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": "P26437", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;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", "synthesized_glycan_count": 0, "hit_score": 18.0, "record_id": "P84085-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P40617-1", "uniprot_id": [ { "id": "ARL4A_HUMAN", "url": "https://www.uniprot.org/uniprot/P40617", "type": "external" } ], "mass": 22615.0, "length": 200, "protein_name": "ADP-ribosylation factor-like protein 4A", "gene_name": "ARL4A", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 4A", "refseq_ac": [ { "id": "NP_001032241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032241", "type": "external" } ], "gene_names_uniprotkb": "ARL4A; ARL4", "gene_names_refseq": "ARL4A; ARL4", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 4A", "protein_names_refseq": "ADP ribosylation factor like GTPase 4A; ADP-ribosylation factor-like 4A; ADP-ribosylation factor-like 4; ADP-ribosylation factor-like protein 4A", "tax_id": 9606, "disease": "", "pathway": " (hsa:10124)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "10462049;10831612;10980193;11237011;17398095;21930703;22159419;26992070;27846572;27920218;28832583;29242379;29485866;29557506;29786170;30427759;30429286;30833945;31154438;31844290;31848261;32157095;32357974;32983136;33537174;33592498;33968037;34185709;35580925;35857868;36010968;36284347", "class_list": "", "function": "ADP-ribosylation factor-like 4A is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4A is similar to ARL4C and ARL4D and each has a nuclear localization signal and an unusually high guaninine nucleotide exchange rate. ARL4A is located in both the nuclear and extranuclear cell compartments. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Arl4A participates in Slit2/Robo1 signaling to modulate cell motility by regulating Cdc42 activity., [RefSeq, PubMed]; Deletion of the ARL4A-interacting region of GCC185 results in inability to maintain Golgi structure and modulate endosome-to-Golgi transport., [RefSeq, PubMed]; Membrane targeting of ELMO via Arl4A promotes cytoskeletal reorganization including membrane ruffling and stress fiber disassembly via an ELMO-DOCK1800-Rac signaling pathway., [RefSeq, PubMed]; Phosphorylation of Arl4A/D promotes their binding by the HYPK chaperone for their stable recruitment to the plasma membrane., [RefSeq, PubMed]; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in GDP-bound form., [UniProtKB, PubMed, PubMed]; Study shows that three related Arf-like GTPases Arl4a, Arl4c, and Arl4d, are able to recruit ARNO and other cytohesins to the plasma membrane by binding to their PH domains irrespective of whether they are in the diglycine or triglycine form., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D119;P80418;Q49AF5", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "P40617-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "C9JTQ0-1", "uniprot_id": [ { "id": "ANR63_HUMAN", "url": "https://www.uniprot.org/uniprot/C9JTQ0", "type": "external" } ], "mass": 39620.0, "length": 380, "protein_name": "Ankyrin repeat domain-containing protein 63", "gene_name": "ANKRD63", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 63", "refseq_ac": [ { "id": "NP_001177408", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177408", "type": "external" } ], "gene_names_uniprotkb": "ANKRD63", "gene_names_refseq": "ANKRD63", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 63", "protein_names_refseq": "ankyrin repeat domain-containing protein 63", "tax_id": 9606, "disease": "", "pathway": " (hsa:100131244)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "25418920;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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "C9JTQ0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9E1-1", "uniprot_id": [ { "id": "ANRA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9E1", "type": "external" } ], "mass": 34272.0, "length": 313, "protein_name": "Ankyrin repeat family A protein 2", "gene_name": "ANKRA2", "organism": "Human", "refseq_name": "ankyrin repeat family A protein 2", "refseq_ac": [ { "id": "NP_075526", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075526", "type": "external" } ], "gene_names_uniprotkb": "ANKRA2; ANKRA", "gene_names_refseq": "ANKRA2; ANKRA", "protein_names_uniprotkb": "Ankyrin repeat family A protein 2; RFXANK-like protein 2", "protein_names_refseq": "RFXANK-like protein 2; ankyrin repeat family A protein 2; ankyrin repeat, family A (RFXANK-like), 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57763)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11095640;11237011;15964851;20873783;22649097;23481700;24714562;24715725;25576301;25752541;26154972;26375851;26728094;26992070;27600516;27846572;27869121;28832583;28834231;29242379;29557506;29632711;30379171;30429286;31154438;31844290;31848261;31864703;32157095;32357974;32488085;32938616;33141586;33298915;33592498;33717175;34211107;34561969;35051231;35580925;36241641;36581221", "class_list": "", "function": "ANKRA, RFXANK, and CIITA are novel targets of class IIa HDACs which may deacetylases play a role in regulating MHCII expression, [RefSeq, PubMed]; May regulate the interaction between the 3M complex and the histone deacetylases HDAC4 and HDAC5 (PubMed:25752541). May also regulate LRP2/megalin (By similarity)., [UniProtKB, PubMed, UniProtKB]; Structural basis for the recognition of RFX7 by ANKRA2 and RFXANK., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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:0019901 protein kinase binding;GO:0050750 low-density lipoprotein particle receptor binding;GO:0031625 ubiquitin protein ligase binding;GO:0042826 histone deacetylase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0010468 regulation of gene expression;GO:0043254 regulation of protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9H9E1-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08758-1", "uniprot_id": [ { "id": "ANXA5_HUMAN", "url": "https://www.uniprot.org/uniprot/P08758", "type": "external" } ], "mass": 35937.0, "length": 320, "protein_name": "Annexin A5", "gene_name": "ANXA5", "organism": "Human", "refseq_name": "annexin A5", "refseq_ac": [ { "id": "NP_001145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001145", "type": "external" } ], "gene_names_uniprotkb": "ANXA5; ANX5; ENX2; PP4", "gene_names_refseq": "ANX5; ANXA5; CPB-I; ENX2; HEL-S-7; PP4; RPRGL3; VAC-alph", "protein_names_uniprotkb": "Annexin A5; Anchorin CII; Annexin V; Annexin-5; CPB-I; Calphobindin I; Endonexin II; Lipocortin V; PAP-I; PP4; Placental anticoagulant protein 4; Placental anticoagulant protein I; Thromboplastin inhibitor; VAC-alpha; Vascular anticoagulant-alpha", "protein_names_refseq": "CBP-I; PAP-I; VAC-alpha; anchorin CII; annexin A5; annexin V; annexin-5; calphobindin I; endonexin II; epididymis secretory protein Li 7; lipocortin V; placental anticoagulant protein 4; placental anticoagulant protein I; thromboplastin inhibitor; vascular anticoagulant-alpha", "tax_id": 9606, "disease": "nephrotic syndrome type 2 (Disease Ontology:DOID:0080379); Alzheimer's disease (Disease Ontology:DOID:10652); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); cryptorchidism (Disease Ontology:DOID:11383); Lewy body dementia (Disease Ontology:DOID:12217); Parkinson's disease (Disease Ontology:DOID:14330); hypothyroidism (Disease Ontology:DOID:1459); glomerulonephritis (Disease Ontology:DOID:2921); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); systemic scleroderma (Disease Ontology:DOID:418); autoimmune disease of the nervous system (Disease Ontology:DOID:438); myocardial infarction (Disease Ontology:DOID:5844); hyperthyroidism (Disease Ontology:DOID:7998); Wilson disease (Disease Ontology:DOID:893); pregnancy loss, recurrent, susceptibility to, 3 (MONDO:MONDO:0013729)", "pathway": " (hsa:308); (R-HSA-114608)", "pathway_count": 2, "publication_count": 114, "publication_id_list": "11237011;1311770;1435334;14630798;15242332;15297306;16916647;17339269;17697703;18083107;18491316;18991276;19608861;20068231;21081667;2147412;2148156;23481700;23640497;2455636;25114211;2532007;25417112;25505266;25576301;25645385;25772364;25892735;26154972;26992070;27397612;27600516;27726376;27846572;28218747;28467828;28832583;28904123;29242379;29314611;29393594;29437277;29493099;29508533;29557506;2957692;2963810;2964863;2967291;2967495;2968983;2974032;29786170;29789417;30315122;30379171;30410026;30429286;30573663;30779550;30833945;31217245;31222486;31844290;31848261;32157095;32161166;32350084;32387766;32488085;32938616;32983136;33043033;33214551;33465208;33592498;33691108;33912179;33968037;34019948;34087483;34171305;34357683;34509645;34725712;34932366;35008409;35051231;35138101;35154160;35251023;35318648;35580925;35940392;36010968;36215666;36241641;36284347;36958013;37217939;37272842;37938771;38474114;38665916;38824386;40596516;40914422;6457647;7958998;8034319;8249278;8467233;9398511;9435213", "class_list": "glycogene", "function": "ANXA5: A Key Regulator of Immune Cell Infiltration in Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Annexin A5 as a targeting agent for cancer treatment. Review article, [RefSeq, PubMed]; Annexin-A5 and annexin-A6 silencing prevents metastasis of breast cancer cells in zebrafish., [RefSeq, PubMed]; Hepatitis C Virus Disrupts Annexin 5-Mediated Occludin Integrity through Downregulation of Protein Kinase Calpha (PKCalpha) and PKCeta Expression, Thereby Promoting Viral Propagation., [RefSeq, PubMed]; The Annexin 5 gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa.The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. Polymorphisms in this gene have been implicated in various obstetric complications. [provided by RefSeq, Dec 2019]., [RefSeq]; The Relevance, Predictability, and Utility of Annexin A5 for Human Physiopathology. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This protein is an anticoagulant protein that acts as an indirect inhibitor of the thromboplastin-specific complex, which is involved in the blood coagulation cascade., [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": 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 358, "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": "D3DNW7;Q6FHB3;Q6FI16;Q8WV69;Q9UDH9", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0005509 calcium ion binding;GO:0005544 calcium-dependent phospholipid binding;GO:0001786 phosphatidylserine binding;GO:0004859 phospholipase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0043066 negative regulation of apoptotic process;GO:0007596 blood coagulation;GO:0050819 negative regulation of coagulation", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "P08758-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30533-1", "uniprot_id": [ { "id": "AMRP_HUMAN", "url": "https://www.uniprot.org/uniprot/P30533", "type": "external" } ], "mass": 41466.0, "length": 357, "protein_name": "Alpha-2-macroglobulin receptor-associated protein", "gene_name": "LRPAP1", "organism": "Human", "refseq_name": "alpha-2-macroglobulin receptor-associated protein precursor", "refseq_ac": [ { "id": "NP_002328", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002328", "type": "external" } ], "gene_names_uniprotkb": "LRPAP1; A2MRAP", "gene_names_refseq": "A2MRAP; A2RAP; HBP44; LRPAP1; MYP23; RAP; alpha-2-MRAP", "protein_names_uniprotkb": "Alpha-2-macroglobulin receptor-associated protein; Alpha-2-MRAP; Low density lipoprotein receptor-related protein-associated protein 1; RAP", "protein_names_refseq": "39 kDa receptor-associated protein; alpha-2-macroglobulin receptor-associated protein precursor; low density lipoprotein receptor-related protein associated protein 1; low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); membranous glomerulonephritis (Disease Ontology:DOID:10976); myopia (Disease Ontology:DOID:11830); dementia (Disease Ontology:DOID:1307); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:4043)", "pathway_count": 1, "publication_count": 130, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;11294867;11384978;12530537;12766414;1400426;15053742;15364913;16630895;16678114;16938309;1712782;18446792;19159218;19615748;20068231;20166139;22661428;23481700;23555621;23584533;23830514;24190977;24275569;24366607;24714562;24715725;25418920;25505266;25576301;25645385;25813380;26154972;26375851;26728094;26768311;26811146;26858303;26992070;27600516;27846572;27893789;27920218;28159928;28218747;28228285;28510447;28832583;28834231;28871256;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29741879;29786170;29789417;30115740;30315122;30410026;30429286;30524438;30779550;30833945;31020640;31154438;31530632;31540894;31611695;31844290;31848261;32119511;32157095;32161166;32265295;32295785;32296178;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33465208;33537174;33592498;33717175;33912179;33968037;34087483;34142235;34171305;34405274;34472763;34509645;34561969;34725712;34932366;34936547;35051231;35132862;35251023;35318648;35513511;35580925;36010968;36241641;36284347;36848531;37074911;38035103;38665916;40307207;40596516;7774585;7789983;8910522;8940146;9207124;9782079", "class_list": "", "function": "Identification of intracellular glycosaminoglycan-interacting proteins by affinity purification mass spectrometry. Publication Status: Online-Only, [RefSeq, PubMed]; LRPAP1 is released from activated microglia and inhibits microglial phagocytosis and amyloid beta aggregation. Publication Status: Online-Only, [RefSeq, PubMed]; Lrpap1 (RAP) Inhibits Proximal Tubule Clathrin Mediated and Clathrin Independent Endocytosis, Ameliorating Renal Aminoglycoside Nephrotoxicity., [RefSeq, PubMed]; Molecular chaperone for LDL receptor-related proteins that may regulate their ligand binding activity along the secretory pathway., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The relationship of ADAMTSL2 and LRPAP1 gene methylation level with rheumatoid arthritis activity., [RefSeq, PubMed]; This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. 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": 1, "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": 2, "reported_phosphosites": 6, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 93, "disease_count": 5, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "D3DVR9;Q2M310;Q53HQ3;Q53HS6", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0008201 heparin binding;GO:0050750 low-density lipoprotein particle receptor binding;GO:0001540 amyloid-beta binding;GO:0048019 receptor antagonist activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005768 endosome;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005796 Golgi lumen", "go_biological_process": "GO:0007165 signal transduction;GO:1900223 positive regulation of amyloid-beta clearance;GO:0002091 negative regulation of receptor internalization;GO:0010916 negative regulation of very-low-density lipoprotein particle clearance;GO:0048259 regulation of receptor-mediated endocytosis", "synthesized_glycan_count": 0, "hit_score": 23.8, "record_id": "P30533-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86XS5-1", "uniprot_id": [ { "id": "ANGL5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86XS5", "type": "external" } ], "mass": 44144.0, "length": 388, "protein_name": "Angiopoietin-related protein 5", "gene_name": "ANGPTL5", "organism": "Human", "refseq_name": "angiopoietin-related protein 5 precursor", "refseq_ac": [ { "id": "NP_835228", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835228", "type": "external" } ], "gene_names_uniprotkb": "ANGPTL5; PRO19600", "gene_names_refseq": "ANGPTL5", "protein_names_uniprotkb": "Angiopoietin-related protein 5; Angiopoietin-like protein 5", "protein_names_refseq": "angiopoietin-like protein 5; angiopoietin-related protein 5 precursor; angiopoietin-related protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:253935)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;12624729;12975309;21559522;23481700;29242379;30620550;32286392;33141586;33486501;35051231", "class_list": "", "function": "CD34+ CD133+ hematopoietic stem cells cultured with growth factors including Angptl5 efficiently engraft adult NOD-SCID Il2rgamma-/- (NSG) mice Publication Status: Online-Only, [RefSeq, PubMed]; Correlation of circulating ANGPTL5 levels with obesity, high sensitivity C-reactive protein and oxidized low-density lipoprotein in adolescents. Publication Status: Online-Only, [RefSeq, PubMed]; Elevated Plasma Angiopoietinlike Protein 5 (ANGPTL5) Is More Positively Associated with Glucose Metabolism Disorders in Patients with Metabolic Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Maps to 11q22, mainly expressed in adult human heart., [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": 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": 16, "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": "A8K658;Q86VR9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q86XS5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q04828-1", "uniprot_id": [ { "id": "AK1C1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q04828", "type": "external" } ], "mass": 36788.0, "length": 323, "protein_name": "Aldo-keto reductase family 1 member C1", "gene_name": "AKR1C1", "organism": "Human", "refseq_name": "aldo-keto reductase family 1 member C1", "refseq_ac": [ { "id": "NP_001344", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001344", "type": "external" } ], "gene_names_uniprotkb": "AKR1C1; DDH1; DDH", "gene_names_refseq": "2-ALPHA-HSD; 20-ALPHA-HSD; AKR1C1; DD1/DD2; DD1; DDH1; DDH; H-37; HAKRC; HBAB; MBAB", "protein_names_uniprotkb": "Aldo-keto reductase family 1 member C1; 1.1.1.-; 1.1.1.112; 1.1.1.149; 1.1.1.209; 1.1.1.210; 1.1.1.270; 1.1.1.357; 1.1.1.51; 1.1.1.53; 1.1.1.62; 1.3.1.20; 20-alpha-HSD; 20alpha-hydroxysteroid dehydrogenase; 3beta-hydroxysteroid 3-dehydrogenase; Chlordecone reductase homolog HAKRC; DD1; Dihydrodiol dehydrogenase 1; HBAB; High-affinity hepatic bile acid-binding protein", "protein_names_refseq": "20 alpha-hydroxysteroid dehydrogenase; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase; 20alpha-hydroxysteroid dehydrogenase; 3beta-hydroxysteroid 3-dehydrogenase; aldo-keto reductase C; aldo-keto reductase family 1 member C1; chlordecone reductase homolog HAKRC; dihydrodiol dehydrogenase 1/2; dihydrodiol dehydrogenase 1; hepatic dihydrodiol dehydrogenase; high-affinity hepatic bile acid-binding protein; indanol dehydrogenase; trans-1,2-dihydrobenzene-1,2-diol dehydrogenase; type II 3-alpha-hydroxysteroid dehydrogenase", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1645); (R-HSA-193368); (R-HSA-193775); (R-HSA-193807); (R-HSA-975634); (R-HSA-9757110)", "pathway_count": 6, "publication_count": 144, "publication_id_list": "10051404;10052934;10092594;10377398;10479480;10484077;10588945;10655068;10665657;10672042;10673364;10729196;10748047;10749848;10769148;10998348;11013348;11060341;11060344;11067870;11158055;11181758;11237011;11274389;11504826;11673457;11902585;11980911;11995921;12379510;12466373;12604236;12604685;12673034;12679481;1279089;12899831;1352877;1356264;1359686;1400444;14640697;14661924;14672942;15175422;15358783;1542003;15472518;15583000;15904907;16200213;16939223;1708392;17200165;17525477;17644776;18087047;18282684;18295589;18460466;18507396;18513745;1856611;19014918;19139408;19218247;19447222;1968359;19862647;20190787;2019602;20583968;20621639;21106934;21414777;21490593;21851338;22344233;23063411;2384150;24106281;24189185;2570070;25800201;26208431;2639662;27411675;2793848;28132103;2876781;2898143;30137266;31701669;32981041;34019948;3472246;34830394;3593903;36066316;36580660;36765000;3709632;3714052;37648943;38112954;38665916;3942763;41018975;4345202;5057882;5675424;6420172;6492791;6961410;7073761;7195405;7310640;7400951;7508385;7515059;7588203;7626489;7649182;7683668;7865904;8017323;8034703;8132567;8172617;8274401;8384721;8387517;8486699;8573067;8728311;8902629;8943006;9543163;9652413;9660774;9816258;9888420;9920938;9925661", "class_list": "", "function": "20alpha-Hydroxysteroid Dehydrogenase Expression in the Human Myometrium at Term and Preterm Birth: Relationships to Fetal Sex and Maternal Body Mass Index., [RefSeq, PubMed]; AKR1C1 Protects Corneal Epithelial Cells Against Oxidative Stress-Mediated Ferroptosis in Dry Eye., [RefSeq, PubMed]; AKR1C1 and hormone metabolism in lipedema pathogenesis: a computational biology approach., [RefSeq, PubMed]; Cytosolic aldo-keto reductase that catalyzes NADPH-dependent reduction of ketosteroids to hydroxysteroids. Displays broad substrate specificity with distinct positional and stereochemistry, primarily generating 20alpha-hydroxysteroids, but also 3alpha/beta- and 17beta-hydroxysteroids (PubMed:10998348, PubMed:11013348, PubMed:14672942, PubMed:19218247, PubMed:11995921, PubMed:12604236). Involved in neurosteroid metabolism. Reduces 5alpha-dihydrodeoxycorticosterone (5-alpha-DHDOC) to neuroactive steroid 3alpha,5alpha-tetrahydrodeoxycorticosterone (3alpha,5alpha-THDOC) known to alter neural excitability via allosteric activation of gamma-aminobutyric acid type A (GABAAR) receptors. Inactivates 3alpha-hydroxy-5alpha-pregnan-20-one (3alpha,5alpha-THP) into less potent neurosteroid 3alpha,20alpha-dihydroxy-5alpha-pregnane (PubMed:11995921, PubMed:12604236). Catalyzes the reduction of progesterone to less potent progestogen (20S)-hydroxypregn-4-en-3-one likely regulating ligand availability for progesterone receptors (PubMed:10998348, PubMed:11013348, PubMed:12604236). In androgen catabolism, may predominantly act as a phase I enzyme by introducing a hydroxyl group prior to conjugation. It can nevertheless participate in the alternative phase II pathway by directly reducing sulfate- or glucuronide-conjugated androgens (PubMed:19218247). In vitro can efficiently catalyze bidirectional conversion between ketosteroids and hydroxysteroids using NADPH/NADP(+) or NADH/NAD(+) as cofactors. In vivo however, the reductase activity prevails since the major reducing cofactor NADPH inhibits NAD(+)-dependent oxidase activity (PubMed:14672942)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Regulation of 20alpha-Hydroxysteroid Dehydrogenase Expression in Term Pregnant Human Myometrium Ex Vivo., [RefSeq, PubMed]; This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptomic Profiling Reveals AKR1C1 and AKR1C3 Mediate Cisplatin Resistance in Signet Ring Cell Gastric Carcinoma via Autophagic Cell Death. 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": 7, "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": "P52896;Q5SR15;Q7M4N2;Q9UCX2", "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": "1.1.1.62", "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": "1.1.1.315", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.315", "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": "1.1.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.51", "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": "1.1.1.188", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.188", "type": "external" }, { "id": "1.1.1.112", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.112", "type": "external" }, { "id": "1.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.20", "type": "external" }, { "id": "1.1.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.149", "type": "external" }, { "id": "1.1.1.330", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.330", "type": "external" }, { "id": "1.1.1.n12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.n12", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" }, { "id": "1.1.1.184", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.184", "type": "external" }, { "id": "1.1.1.179", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.179", "type": "external" }, { "id": "1.1.1.115", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.115", "type": "external" }, { "id": "1.1.1.119", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.119", "type": "external" }, { "id": "1.1.1.120", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.120", "type": "external" } ], "go_molecular_function": "GO:0004032 aldose reductase (NADPH) activity;GO:0031406 carboxylic acid binding;GO:0008106 alcohol dehydrogenase (NADP+) activity;GO:0004303 estradiol 17-beta-dehydrogenase [NAD(P)+] activity;GO:0016655 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0030855 epithelial cell differentiation;GO:0015721 bile acid and bile salt transport;GO:0006805 xenobiotic metabolic process;GO:0030299 intestinal cholesterol absorption", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q04828-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43315-1", "uniprot_id": [ { "id": "AQP9_HUMAN", "url": "https://www.uniprot.org/uniprot/O43315", "type": "external" } ], "mass": 31431.0, "length": 295, "protein_name": "Aquaporin-9", "gene_name": "AQP9", "organism": "Human", "refseq_name": "aquaporin-9 isoform 1", "refseq_ac": [ { "id": "NP_066190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066190", "type": "external" } ], "gene_names_uniprotkb": "AQP9; SSC1", "gene_names_refseq": "AQP-9; AQP9; HsT17287; SSC1; T17287", "protein_names_uniprotkb": "Aquaporin-9; AQP-9; Aquaglyceroporin-9; Small solute channel 1", "protein_names_refseq": "aquaglyceroporin-9; aquaporin-9 isoform 1; small solute channel 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:366); (R-HSA-432030); (R-HSA-432047)", "pathway_count": 3, "publication_count": 83, "publication_id_list": "10510269;10564231;11001937;11027599;11034202;11076974;11231887;11237011;11532455;11573934;11952783;12084581;12801959;1373524;14514735;14592814;14701836;1510932;15703994;15948717;16325777;16407156;16596446;17081983;17178220;17346701;17374283;17920625;17961083;18202181;18501347;18511455;18555844;18678926;18762715;18768791;18948439;19144687;19170255;19383790;19574955;19590626;19857466;20147624;21251984;21873454;23359558;23481700;25502872;25548167;25892735;26154972;26837049;28063628;28419510;29557506;29632046;30420639;3049610;32387766;32983136;33123756;34932366;35051231;35054513;35076928;35477402;35508193;35580925;38279209;7510718;7530250;7535000;7678419;8140421;8621489;8812490;8855281;9369468;9405233;9514918;9806845;9829975", "class_list": "", "function": "AQP3 and AQP9-Contrary Players in Sepsis? Publication Status: Online-Only, [RefSeq, PubMed]; AQP9 and ZAP70 as immune-related prognostic biomarkers suppress proliferation, migration and invasion of laryngeal cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Aquaglyceroporins form homotetrameric transmembrane channels, with each monomer independently mediating glycerol and water transport across the plasma membrane along their osmotic gradient (PubMed:10564231, PubMed:30420639, PubMed:35054513, PubMed:9514918). AQP9 is the primary route for glycerol uptake in hepatocytes, supporting hepatic gluconeogenesis (By similarity). It exhibits broad specificity and may transport various small, non-charged solutes, including carbamides, polyols, purines, and pyrimidines (PubMed:10564231). AQP9 may also facilitate hepatic urea extrusion (PubMed:10564231, PubMed:9514918). Due to its permeability to lactate, AQP9 might participate in the astrocyte-to-neuron lactate shuttle, supplying neurons with energy (PubMed:10564231, PubMed:35054513). Additionally, AQP9 is permeable to arsenite, contributing to arsenic excretion by the liver and providing partial protection against arsenic toxicity (PubMed:10564231). It is also permeable to H2O2 in vivo (PubMed:26837049). Could also be permeable to ammonium (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, PubMed]; The Implication of Aquaporin-9 in the Pathogenesis of Preterm Premature Rupture of Membranes. Erratum:[Z Geburtshilfe Neonatol. 2022 Aug;226(4):e40. doi: 10.1055/a-1845-2928. PMID: 35580619], [RefSeq, PubMed]; The aquaporins are a family of water-selective membrane channels. This gene encodes a member of a subset of aquaporins called the aquaglyceroporins. This protein allows passage of a broad range of noncharged solutes and also stimulates urea transport and osmotic water permeability. This protein may also facilitate the uptake of glycerol in hepatic tissue . The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]., [RefSeq]; [Association study of single nucleotide polymorphisms of AQP7 and AQP9 genes with type 2 diabetes mellitus among ethnic Han Chinese population]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q9NP32", "ec_number_list": [], "go_molecular_function": "GO:0015267 channel activity;GO:0015250 water channel activity;GO:0015254 glycerol channel activity;GO:0015265 urea channel activity;GO:0005345 purine nucleobase transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0043231 intracellular membrane-bounded organelle", "go_biological_process": "GO:0071918 urea transmembrane transport;GO:0071320 cellular response to cAMP;GO:0006833 water transport;GO:0015793 glycerol transmembrane transport;GO:0006863 purine nucleobase transport", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "O43315-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15144-1", "uniprot_id": [ { "id": "AMPN_HUMAN", "url": "https://www.uniprot.org/uniprot/P15144", "type": "external" } ], "mass": 109540.0, "length": 967, "protein_name": "Aminopeptidase N", "gene_name": "ANPEP", "organism": "Human", "refseq_name": "aminopeptidase N precursor", "refseq_ac": [ { "id": "NP_001141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001141", "type": "external" } ], "gene_names_uniprotkb": "ANPEP; APN; CD13; PEPN", "gene_names_refseq": "ANPEP; AP-M; AP-N; APN; CD13; GP150; LAP1; P150; PEPN; hAPN", "protein_names_uniprotkb": "Aminopeptidase N; 3.4.11.2; AP-M; AP-N; Alanyl aminopeptidase; Aminopeptidase M; Microsomal aminopeptidase; Myeloid plasma membrane glycoprotein CD13; gp150; hAPN", "protein_names_refseq": "alanyl (membrane) aminopeptidase; aminopeptidase M; aminopeptidase N precursor; aminopeptidase N; membrane alanyl aminopeptidase; microsomal aminopeptidase; myeloid plasma membrane glycoprotein CD13", "tax_id": 9606, "disease": "severe acute respiratory syndrome (Disease Ontology:DOID:2945)", "pathway": " (hsa:290); (R-HSA-2022377); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 117, "publication_id_list": "37639587;10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10536878;10605003;10676659;10899625;10924499;10969042;11237011;11384645;11502696;11559807;11815627;12045255;12473585;12540854;12551991;12927775;1350662;14747736;15084671;15283675;16335952;1668266;1675638;16790432;1705556;17138938;17704566;17924679;1848554;1851160;19159218;19800993;20380117;20889553;22193701;2266130;22932899;23090970;23345538;23446738;23584533;23650620;23719902;23783831;24141856;24190977;2443571;25576301;2558510;2564851;26791533;26992070;2708524;2846041;2901990;29242379;29391424;29557506;29671580;29741879;29786170;3017438;30429286;30459171;32157095;32350084;32387766;32938616;32983136;33043033;33091337;33214551;33392160;33592498;34019948;34078123;34185709;35008409;35051231;35154160;35251023;35459695;35580925;36284347;37074911;37263884;37806335;37817190;37892170;383475;38519889;38665916;4289389;4322712;4330891;4360430;6149934;6269175;6270633;6303766;6807977;7576235;7902291;7980644;8102610;8105105;8573078;8692836;8887485;9056417;9169443;9367365;9452074;9570564", "class_list": "", "function": "(Microbial infection) Acts as a receptor for human coronavirus 229E/HCoV-229E. In case of human coronavirus 229E (HCoV-229E) infection, serves as receptor for HCoV-229E spike glycoprotein., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; (Microbial infection) Mediates as well Human cytomegalovirus (HCMV) infection., [UniProtKB, PubMed]; ANPEP/CD13 Expression as a Marker of Lymphovascular Invasion and Survival in Esophageal Adenocarcinoma., [RefSeq, PubMed]; Altered serum levels of platelet-derived growth factor receptor beta and cluster of differentiation 13 suggest a role for pericytes in West syndrome., [RefSeq, PubMed]; Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. This membrane-bound zinc metalloprotease is known to serve as a receptor for the HCoV-229E alphacoronavirus as well as other non-human coronaviruses. This gene has also been shown to promote angiogenesis, tumor growth, and metastasis and defects in this gene are associated with various types of leukemia and lymphoma. [provided by RefSeq, Apr 2020]., [RefSeq]; Aminopeptidase N/CD13 Crosslinking Promotes the Activation and Membrane Expression of Integrin CD11b/CD18. Publication Status: Online-Only, [RefSeq, PubMed]; Broad specificity aminopeptidase which plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Also involved in the processing of various peptides including peptide hormones, such as angiotensin III and IV, neuropeptides, and chemokines. May also be involved the cleavage of peptides bound to major histocompatibility complex class II molecules of antigen presenting cells. May have a role in angiogenesis and promote cholesterol crystallization. May have a role in amino acid transport by acting as binding partner of amino acid transporter SLC6A19 and regulating its activity (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; CD13 expression affects glioma patient survival and influences key functions of human glioblastoma cell lines in vitro. Publication Status: Online-Only, [RefSeq, PubMed]; CD13 facilitates immune cell migration and aggravates acute injury but promotes chronic post-stroke recovery. 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": 10, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 11, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 11, "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": 59, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 199, "disease_count": 1, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "Q16728;Q6GT90;Q8IUK3;Q8IVH3;Q9UCE0", "ec_number_list": [ { "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": "1.2.1.5", "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": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" } ], "go_molecular_function": "GO:0008237 metallopeptidase activity;GO:0008270 zinc ion binding;GO:0001618 virus receptor activity;GO:0004177 aminopeptidase activity;GO:0070006 metalloaminopeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0005765 lysosomal membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0001525 angiogenesis;GO:0030154 cell differentiation;GO:0002003 angiotensin maturation;GO:0043171 peptide catabolic process", "synthesized_glycan_count": 0, "hit_score": 33.4, "record_id": "P15144-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43488-1", "uniprot_id": [ { "id": "ARK72_HUMAN", "url": "https://www.uniprot.org/uniprot/O43488", "type": "external" } ], "mass": 39589.0, "length": 359, "protein_name": "Aflatoxin B1 aldehyde reductase member 2", "gene_name": "AKR7A2", "organism": "Human", "refseq_name": "aflatoxin B1 aldehyde reductase member 2 isoform 1", "refseq_ac": [ { "id": "NP_003680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003680", "type": "external" } ], "gene_names_uniprotkb": "AKR7A2; AFAR1; AFAR; AKR7", "gene_names_refseq": "AFAR1; AFAR; AFB1-AR1; AKR7A2; AKR7", "protein_names_uniprotkb": "Aflatoxin B1 aldehyde reductase member 2; 1.1.1.n11; AFB1 aldehyde reductase 1; AFB1-AR 1; Aldoketoreductase 7; SSA reductase; Succinic semialdehyde reductase", "protein_names_refseq": "AFB1 aldehyde reductase 1; AFB1-AR 1; HEL-S-166mP; SSA reductase; aflatoxin B1 aldehyde reductase member 2 isoform 1; aflatoxin B1 aldehyde reductase member 2; aflatoxin aldehyde reductase; aflatoxin beta1 aldehyde reductase; aldoketoreductase 7; epididymis secretory sperm binding protein Li 166mP; succinic semialdehyde reductase", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498)", "pathway": " (hsa:8574); (R-HSA-5423646)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10510318;11237011;11409944;11904223;12071861;12144777;12727802;12879023;12933810;1504254;16385575;1643250;16970545;17591773;18357469;18416522;18752886;19463;20068231;20166139;23186163;24275569;25576301;2573352;28514659;28904123;29557506;31844290;32157095;32325220;32502341;32897882;32938616;32983136;3372534;34019948;34087483;34171305;34229054;35051231;35580925;36284347;37938771;38665916;3931076;7764673;7766804;8439558;8703034;8812420;8975785;9278457;9576847;9823300", "class_list": "", "function": "Catalyzes the NADPH-dependent reduction of succinic semialdehyde to gamma-hydroxybutyrate. May have an important role in producing the neuromodulator gamma-hydroxybutyrate (GHB). Has broad substrate specificity. Has NADPH-dependent aldehyde reductase activity towards 2-carboxybenzaldehyde, 2-nitrobenzaldehyde and pyridine-2-aldehyde (in vitro). Can reduce 1,2-naphthoquinone and 9,10-phenanthrenequinone (in vitro). Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent hepatocarcinogen., [UniProtKB, PubMed, PubMed]; Structure and tissue-related expression of AFAR genes on chromosome 1, [RefSeq, PubMed]; The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. 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": 2, "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": "O75749;Q5TG63", "ec_number_list": [ { "id": "1.1.1.n11", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.n11", "type": "external" }, { "id": "1.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.2", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" } ], "go_molecular_function": "GO:0009055 electron transfer activity;GO:0004032 aldose reductase (NADPH) activity;GO:0008106 alcohol dehydrogenase (NADP+) activity;GO:0019119 phenanthrene-9,10-epoxide hydrolase activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0005975 carbohydrate metabolic process;GO:0006081 aldehyde metabolic process;GO:0044597 daunorubicin metabolic process;GO:0044598 doxorubicin metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "O43488-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NI99-1", "uniprot_id": [ { "id": "ANGL6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NI99", "type": "external" } ], "mass": 51694.0, "length": 470, "protein_name": "Angiopoietin-related protein 6", "gene_name": "ANGPTL6", "organism": "Human", "refseq_name": "angiopoietin-related protein 6 precursor", "refseq_ac": [ { "id": "NP_001308340", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308340", "type": "external" } ], "gene_names_uniprotkb": "ANGPTL6; AGF; ARP5; PRO178", "gene_names_refseq": "AGF; ANGPTL6; ARP5", "protein_names_uniprotkb": "Angiopoietin-related protein 6; Angiopoietin-like protein 6; Angiopoietin-related growth factor; Angiopoietin-related protein 5", "protein_names_refseq": "angiopoietin-like protein 6; angiopoietin-related growth factor; angiopoietin-related protein 5; angiopoietin-related protein 6 precursor; angiopoietin-related protein 6", "tax_id": 9606, "disease": "gestational diabetes (Disease Ontology:DOID:11714); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:83854)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "10.1038/emboj.2013.79;11237011;12871997;12975309;14764539;16335952;16806062;19139490;19159218;23090970;23584533;24190977;24715725;26154972;27846572;27920218;28228285;28649982;28832583;28904123;29242379;29391424;29557506;29632046;30315122;30459171;31154438;31530632;31844290;32265295;32350084;32488085;32502341;32897882;33298915;33810547;34211107;34412629;34932366;35251023;35821539;35876300;36601873;37074911", "class_list": "", "function": "Angiopoietin-Like Growth Factor Involved in Leptin Signaling in the Hypothalamus. Publication Status: Online-Only, [RefSeq, PubMed]; Associations of ANGPTL6, DOCK6, FABP1, and PCSK9 single-nucleotide variants with hypercholesterolemia in the Polish population: a cross-sectional study., [RefSeq, PubMed]; Differential Proteomic Profiles of Coronary Serum Exosomes in Acute Myocardial Infarction Patients with or Without Diabetes Mellitus: ANGPTL6 Accelerates Regeneration of Endothelial Cells Treated with Rapamycin via MAPK Pathways., [RefSeq, PubMed]; Findings suggest that AGF affects epidermal proliferation and thereby plays a role in the wound healing process, [RefSeq, PubMed]; May play a role in the wound healing process. May promote epidermal proliferation, remodeling and regeneration. May promote the chemotactic activity of endothelial cells and induce neovascularization. May counteract high-fat diet-induced obesity and related insulin resistance through increased energy expenditure., [UniProtKB]; Our results strongly suggest that AGF is an integrin ligand as well as a mitogenic growth factor and theoretically participates in cutaneous wound healing in a more complex mechanism., [RefSeq, PubMed]; Relationship of ANGPTL6 With Neonatal Glucose Homeostasis and Fat Mass Is Disrupted in Gestational Diabetic Pregnancies., [RefSeq, PubMed]; Showed that AGF is a secreted protein, AGF directly promotes chemotactic activity of vascular endothelial cells, and AGF directly induces a permeability change in the local vasculature., [RefSeq, PubMed]; Use of proteomics to identify mechanisms of hepatocellular carcinoma with the CYP2D6*10 polymorphism and identification of ANGPTL6 as a new diagnostic and prognostic biomarker. 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": 2, "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": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "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": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A5PKV7;Q9BZZ0", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0030141 secretory granule;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0005576 extracellular region", "go_biological_process": "GO:0001525 angiogenesis;GO:0030154 cell differentiation;GO:0007596 blood coagulation", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q8NI99-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15123-1", "uniprot_id": [ { "id": "ANGP2_HUMAN", "url": "https://www.uniprot.org/uniprot/O15123", "type": "external" } ], "mass": 56919.0, "length": 496, "protein_name": "Angiopoietin-2", "gene_name": "ANGPT2", "organism": "Human", "refseq_name": "angiopoietin-2 isoform b precursor", "refseq_ac": [ { "id": "NP_001112359", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001112359", "type": "external" } ], "gene_names_uniprotkb": "ANGPT2", "gene_names_refseq": "AGPT2; ANG2; ANGPT2; LMPHM10", "protein_names_uniprotkb": "Angiopoietin-2; ANG-2", "protein_names_refseq": "Tie2-ligand; angiopoietin-2 isoform b precursor; angiopoietin-2B; angiopoietin-2a", "tax_id": 9606, "disease": "hereditary lymphedema (Disease Ontology:DOID:0050580); Caroli disease (Disease Ontology:DOID:0050876); stroke (Disease Ontology:DOID:0051061); alcohol-associated liver disease (Disease Ontology:DOID:0070658); COVID-19 (Disease Ontology:DOID:0080600); portal hypertension (Disease Ontology:DOID:10762); gastric ulcer (Disease Ontology:DOID:10808); retinopathy of prematurity (Disease Ontology:DOID:13025); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); brain ischemia (Disease Ontology:DOID:2316); nephrosis (Disease Ontology:DOID:2527); transitional cell carcinoma (Disease Ontology:DOID:2671); endometrial adenocarcinoma (Disease Ontology:DOID:2870); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); adenocarcinoma (Disease Ontology:DOID:299); high grade glioma (Disease Ontology:DOID:3070); rhabdomyosarcoma (Disease Ontology:DOID:3247); ischemia (Disease Ontology:DOID:326); uremia (Disease Ontology:DOID:4676); vasculogenic impotence (Disease Ontology:DOID:4762); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); diabetic retinopathy (Disease Ontology:DOID:8947); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898); type 2 diabetes mellitus (Disease Ontology:DOID:9352); lymphatic malformation 10 (MONDO:MONDO:0023662)", "pathway": " (hsa:285); (R-HSA-210993)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10051567;10521483;10766762;11191051;11237011;11447223;11566266;11607834;11689432;11969368;12427764;14665640;14749497;15284220;15893672;16732286;16895971;19116766;19223473;19234476;23345538;23592718;29323190;29557506;31020640;32458111;32908006;33086728;35051231;37074911;37938771;38711167;38775153;38808888;7478529;8980223;9204896;9632797;9690470;9764820;9927494", "class_list": "", "function": "Binds to TEK/TIE2, competing for the ANGPT1 binding site, and modulating ANGPT1 signaling (PubMed:15284220, PubMed:19116766, PubMed:19223473, PubMed:9204896). Can induce tyrosine phosphorylation of TEK/TIE2 in the absence of ANGPT1 (PubMed:15284220, PubMed:19116766, PubMed:19223473, PubMed:9204896). In the absence of angiogenic inducers, such as VEGF, ANGPT2-mediated loosening of cell-matrix contacts may induce endothelial cell apoptosis with consequent vascular regression. In concert with VEGF, it may facilitate endothelial cell migration and proliferation, thus serving as a permissive angiogenic signal (PubMed:15284220, PubMed:19116766, PubMed:19223473, PubMed:9204896). Involved in the regulation of lymphangiogenesis (PubMed:32908006)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Blocking the angiopoietin-2-dependent integrin beta-1 signaling axis abrogates small cell lung cancer invasion and metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; NRAS[Q61R] mutation drives elevated angiopoietin-2 expression in human endothelial cells and a genetic mouse model., [RefSeq, PubMed]; Silencing ANGPT2 alleviates ulcerative colitis by regulating autophagy-mediated NLRP3 inflammasome inactivation via the mTOR signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the angiopoietin family of growth factors. The protein encoded by this gene is an antagonist of angiopoietin 1, and both angiopoietin 1 and angiopoietin 2 are ligands for the endothelial TEK receptor tyrosine kinase. Angiopoietin 2 is upregulated in multiple inflammatory diseases and is implicated in the direct control of inflammation-related signaling pathways. The encoded protein affects angiogenesis during embryogenesis and tumorigenesis, disrupts the vascular remodeling ability of angiopoietin 1, and may induce endothelial cell apoptosis. This gene serves a prognostic biomarker for acute respiratory distress syndrome. [provided by RefSeq, Aug 2020]., [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": 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": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 23, "disease_count": 26, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A0AV38;A8K205;B7ZLM7;Q9NRR7;Q9P2Y7", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0046872 metal ion binding;GO:0030971 receptor tyrosine kinase binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0042995 cell projection", "go_biological_process": "GO:0001525 angiogenesis;GO:0007165 signal transduction;GO:0001666 response to hypoxia;GO:0007596 blood coagulation;GO:0045766 positive regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "O15123-1", "record_type": "protein", "filter_code": "0001000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95704-1", "uniprot_id": [ { "id": "APBB3_HUMAN", "url": "https://www.uniprot.org/uniprot/O95704", "type": "external" } ], "mass": 52585.0, "length": 486, "protein_name": "Amyloid-beta A4 precursor protein-binding family B member 3", "gene_name": "APBB3", "organism": "Human", "refseq_name": "amyloid-beta A4 precursor protein-binding family B member 3 isoform d", "refseq_ac": [ { "id": "NP_006042", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006042", "type": "external" } ], "gene_names_uniprotkb": "APBB3; FE65L2", "gene_names_refseq": "APBB3; FE65L2; SRA", "protein_names_uniprotkb": "Amyloid-beta A4 precursor protein-binding family B member 3; Fe65L2; Protein Fe65-like 2", "protein_names_refseq": "FE65-like protein 2; amyloid beta (A4) precursor protein-binding, family B, member 3; amyloid precursor interacting protein; amyloid-beta A4 precursor protein-binding family B member 3 isoform d; protein Fe65-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10307)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10081969;10329396;11237011;12153398;26154972;26992070;28832583;28834231;29242379;29393594;29557506;30429286;31154438;31844290;32938616;33592498;34561969;35051231;35580925", "class_list": "", "function": "May modulate the internalization of amyloid-beta precursor protein., [UniProtKB]; The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thought that the protein encoded by this gene may modulate the internalization of APP. Multiple transcript variants encoding several 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": 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": "B3KQN9;Q08AG4;Q96Q18;Q9BYD4;Q9NYX6;Q9NYX7;Q9NYX8", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0050750 low-density lipoprotein particle receptor binding;GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0016604 nuclear body", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription;GO:0050714 positive regulation of protein secretion", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "O95704-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O96018-1", "uniprot_id": [ { "id": "APBA3_HUMAN", "url": "https://www.uniprot.org/uniprot/O96018", "type": "external" } ], "mass": 61454.0, "length": 575, "protein_name": "Amyloid-beta A4 precursor protein-binding family A member 3", "gene_name": "APBA3", "organism": "Human", "refseq_name": "amyloid-beta A4 precursor protein-binding family A member 3", "refseq_ac": [ { "id": "NP_004877", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004877", "type": "external" } ], "gene_names_uniprotkb": "APBA3; MINT3; X11L2", "gene_names_refseq": "APBA3; MGC:15815; X11L2; mint3", "protein_names_uniprotkb": "Amyloid-beta A4 precursor protein-binding family A member 3; Adapter protein X11gamma; Mint-3; Neuron-specific X11L2 protein; Neuronal Munc18-1-interacting protein 3", "protein_names_refseq": "X11-like 2 protein; adapter protein X11gamma; amyloid beta (A4) precursor protein-binding, family A, member 3 (X11-like 2); amyloid-beta A4 precursor protein-binding family A member 3; mint-3; neuron-specific X11L2 protein; neuronal munc18-1-interacting protein 3; phosphotyrosine-binding/-interacting domain (PTB)-bearing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9546); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10049767;10574372;11604393;11831025;15540461;16242404;16624946;16846852;17897391;18669648;18691976;18812509;18829961;19726677;20064387;20064388;20112406;20519524;21282647;23186163;23481700;24715725;25378172;25418920;25576301;26154972;26811146;26948053;27846572;27862975;27920218;28063628;28832583;28904123;29242379;29393594;29508533;29557506;29786170;30315122;30379171;30429286;31217245;31530632;31844290;32157095;32265295;32350084;32502341;32938616;32983136;33141586;33298915;33912179;33936100;33968037;34171305;34211107;34655613;35051231;36241641;38081808;7695896;7736595;8576240;9069287;9808458;9860131;9927700", "class_list": "", "function": "Associated with etilogical mechanism of Alzheimer's disease. Review article, [RefSeq, PubMed]; May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta. May enhance the activity of HIF1A in macrophages by inhibiting the activity of HIF1AN., [UniProtKB, PubMed]; Mint3-depletion-induced energy stress sensitizes triple-negative breast cancer to chemotherapy via HSF1 inactivation. Publication Status: Online-Only, [RefSeq, PubMed]; Structural and thermodynamical insights into the binding and inhibition of FIH-1 by the N-terminal disordered region of Mint3., [RefSeq, PubMed]; The protein encoded by this gene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer's 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "O60483;Q9UPZ2", "ec_number_list": [], "go_molecular_function": "GO:0004857 enzyme inhibitor activity;GO:0019899 enzyme binding;GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0043197 dendritic spine;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0015031 protein transport;GO:0007268 chemical synaptic transmission;GO:0043086 negative regulation of catalytic activity", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "O96018-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01008-1", "uniprot_id": [ { "id": "ANT3_HUMAN", "url": "https://www.uniprot.org/uniprot/P01008", "type": "external" } ], "mass": 52602.0, "length": 464, "protein_name": "Antithrombin-III", "gene_name": "SERPINC1", "organism": "Human", "refseq_name": "antithrombin-III isoform 1 precursor", "refseq_ac": [ { "id": "NP_000479", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000479", "type": "external" } ], "gene_names_uniprotkb": "SERPINC1; AT3; PRO0309", "gene_names_refseq": "AT3D; AT3; ATIII-R2; ATIII-T1; ATIII-T2; ATIII; SERPINC1; THPH7", "protein_names_uniprotkb": "Antithrombin-III; ATIII; Serpin C1", "protein_names_refseq": "antithrombin-III isoform 1 precursor; antithrombin-III; serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1; serpin peptidase inhibitor clade C member 1; serpin peptidase inhibitor, clade C (antithrombin), member 1", "tax_id": 9606, "disease": "thrombosis (Disease Ontology:DOID:0060903); osteonecrosis (Disease Ontology:DOID:10159); disseminated intravascular coagulation (Disease Ontology:DOID:11247); familial hyperlipidemia (Disease Ontology:DOID:1168); nephrotic syndrome (Disease Ontology:DOID:1184); alpha 1-antitrypsin deficiency (Disease Ontology:DOID:13372); toxic shock syndrome (Disease Ontology:DOID:14115); ovarian cancer (Disease Ontology:DOID:2394); acute kidney failure (Disease Ontology:DOID:3021); antithrombin III deficiency (Disease Ontology:DOID:3755); intermediate coronary syndrome (Disease Ontology:DOID:8805); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:462); (R-HSA-381426); (R-HSA-8957275); (R-HSA-9769733); (R-HSA-9769735); (R-HSA-9769739); (R-HSA-9769743)", "pathway_count": 7, "publication_count": 322, "publication_id_list": "10026136;10026158;10077652;10218588;10361121;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;10997988;11035113;11135627;11158056;11238108;11250653;11264294;11316783;11342438;11522292;11570846;11606061;11713457;11739083;11751371;11788658;11794707;11833835;12052963;12241545;12353073;12379487;12399451;12466191;12591924;12595305;12810533;12894857;12904166;12907439;1325679;1370451;1383255;1421387;14347873;14760718;1483705;1483709;14982929;15084671;15126567;15140129;15164384;15308688;1536946;15469690;1547341;15485880;1551681;15525596;1555650;15642270;15853774;16161994;1618828;16213367;16263699;16335952;16619025;16908819;17047378;17249697;17312271;17506785;17598008;17635713;17985932;1868237;18702456;1873224;1874730;1902833;1906811;19159218;19227008;19297154;1930190;1932746;1977621;19824718;19838169;1998601;20004170;20068231;2012760;2013320;20166139;2019570;2040636;20427285;2093312;2104832;21081667;2110473;21107324;2126464;21932952;22144186;2229057;2248955;22618708;22652793;2271516;22758787;22786881;22961984;23006890;23021219;23090970;2336381;2349545;23621622;2365065;23683607;2372510;2384594;23910795;24275569;24279413;24530628;24554904;2476804;2479552;24841998;2502206;2505252;2538457;25713144;25855704;2602168;26091039;2615648;26473492;26992070;2704749;271951;27363989;27397612;2742826;27726376;2781509;27862975;2794060;28228285;28424376;28514659;2866798;2917133;29223926;29391424;29419409;29437578;29557506;29632711;29671580;29741879;29786170;2983542;30005274;30046692;3017409;30192525;30237853;30315122;30459171;3052293;3055413;3080419;3082357;30918026;31003762;31154438;31262782;3129422;3134349;3141397;31439947;3162733;3169232;3179438;31844290;31848261;3187951;3191114;32125861;32157095;32172226;32350084;3238650;3275472;32829961;32920809;32983136;33091337;3350974;3360140;33936100;33968037;3413737;34725484;3472589;35051231;3512602;35154160;3524673;35251023;3527261;35486842;35580925;3563974;3567355;3580302;3605071;36284347;3663508;36951953;37074911;3715788;3733688;3744129;37726033;3775688;37925034;3805013;38104950;3828226;38448020;3863104;38665916;3960724;4082101;6204398;6298709;6305982;6323392;6334516;6438527;6572945;6582486;6636045;6693405;6871107;6871478;6980899;7082587;7238875;7287752;7356959;7499257;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7656006;7683646;7689487;7727775;7734359;7749926;7756647;7832187;7878627;7947234;7959685;7981186;7989582;7994035;8087553;8144529;8148489;8236149;8274732;8338946;8443391;8476848;8486379;8578528;8598903;8626656;8639673;8639781;8664906;8781553;8817670;8894645;8964575;9031473;9067613;9157604;9218519;9459334;9469622;9497324;9607108;9709957;9733769;9759613;9761669;9774404;9786878;9834200;9845533;9888880;9922210", "class_list": "glycogene", "function": "Clinical and functional characterization of rare compound heterozygous mutations in the SERPINC1 gene causing severe thrombophilia., [RefSeq, PubMed]; Molecular analysis may be the best method to identify antithrombin deficiency. Up to 80% of patients with antithrombin deficiency have SERPINC1 gene defects, mostly (90% of the 315 gene defects described so far) point mutations or small deletions or insertions affecting the 7 exons or flanking regions. [review] Review article, [RefSeq, PubMed]; Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade (PubMed:15140129, PubMed:15853774). AT-III inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa (PubMed:15140129). Its inhibitory activity is greatly enhanced in the presence of heparin., [UniProtKB, PubMed, PubMed]; Studies indicate that antithrombin III (ATIII) and its gene SerpinC1 may be related to many diseases, including hypertension and kidney diseases. Review article, [RefSeq, PubMed]; The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. Numerous mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency which constitutes a strong risk factor for thrombosis. A reduction in the serum level of this protein is associated with severe cases of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Sep 2020]., [RefSeq]; Understanding the andromeda strain - The role of cytokine release, coagulopathy and antithrombin III in SARS-CoV2 critical illness. Review article, [RefSeq, PubMed]; [Phenotypic and genetic analysis of a Chinese pedigree affected with Hereditary antithrombin deficiency due to a novel variant of SERPINC1 gene]., [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": 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": 5, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 4, "reported_phosphosites": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 645, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 111, "disease_count": 12, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2R6P0;P78439;P78447;Q13815;Q5TC78;Q7KZ43;Q7KZ97;Q9UC78", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0004867 serine-type endopeptidase inhibitor activity;GO:0008201 heparin binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0031012 extracellular matrix", "go_biological_process": "GO:0007596 blood coagulation;GO:0030193 regulation of blood coagulation", "synthesized_glycan_count": 0, "hit_score": 44.1, "record_id": "P01008-1", "record_type": "protein", "filter_code": "0001000.1100111.100000.000000000001000000.1100110000001.110.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02655-1", "uniprot_id": [ { "id": "APOC2_HUMAN", "url": "https://www.uniprot.org/uniprot/P02655", "type": "external" } ], "mass": 11284.0, "length": 101, "protein_name": "Apolipoprotein C-II", "gene_name": "APOC2", "organism": "Human", "refseq_name": "apolipoprotein C-II precursor", "refseq_ac": [ { "id": "NP_000474", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000474", "type": "external" } ], "gene_names_uniprotkb": "APOC2; APC2", "gene_names_refseq": "APO-CII; APOC-II; APOC2", "protein_names_uniprotkb": "Apolipoprotein C-II; Apo-CII; ApoC-II; Apolipoprotein C2", "protein_names_refseq": "apolipoprotein C-II precursor; apolipoprotein C-II", "tax_id": 9606, "disease": "familial apolipoprotein C-II deficiency (Disease Ontology:DOID:0111418); familial hyperlipidemia (Disease Ontology:DOID:1168); hyperlipoproteinemia type IV (Disease Ontology:DOID:1172); nephrotic syndrome (Disease Ontology:DOID:1184); hypobetalipoproteinemia (Disease Ontology:DOID:1390); familial lipoprotein lipase deficiency (Disease Ontology:DOID:14118); multiple sclerosis (Disease Ontology:DOID:2377); lipid metabolism disorder (Disease Ontology:DOID:3146); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:344); (R-HSA-8963888); (R-HSA-8963889); (R-HSA-8963901); (R-HSA-8964058); (R-HSA-9029569); (R-HSA-975634)", "pathway_count": 7, "publication_count": 177, "publication_id_list": "10.1038/emboj.2013.79;10052934;10391210;10769148;10858438;10900462;11060341;11149950;11181758;11237011;11274389;11310852;11500512;11604492;11875109;12032151;12150943;12454263;12518019;12612088;12692552;1279089;1301939;14559902;14703507;14732096;14764426;15147902;15284087;15358783;1542003;1555583;15583000;15800215;15994327;16109723;16200213;16326978;16939223;16968945;17088546;17186944;17237796;17525477;17644776;1782747;17883852;17994020;17997385;18087047;18295589;18460466;1848237;18507396;1856611;18782758;19014918;19139408;19304573;19361614;194244;19481530;19567873;20356926;20466882;20466885;20494359;20566875;20581395;20855588;21106934;21187453;21310851;21507939;21666694;21719679;21844202;21851338;2209608;22262056;22304839;22541735;22569073;22673513;22740495;23020258;23150577;23234360;23496987;23519696;23584533;23790976;24106281;2415514;24397894;24909692;24960069;25387803;25645385;26933753;26934567;26934667;26984517;26992070;27452731;27726376;2793848;28082258;2833496;28834231;28842423;28869506;29317506;29557506;29772548;29789417;3014272;3030808;30397120;30459171;32157095;32350084;32387766;32983136;33141586;33392160;33592498;33936100;33968037;34171305;34509645;35051231;35154160;35251023;3525527;35580925;3558370;36284347;3714052;38981044;3942763;3944271;4335615;4340992;4345202;4360812;5057882;5675424;5865378;6328445;6420172;6546757;6593704;6619141;6706938;6772077;6961410;7592670;7683668;7923858;8017323;8020465;8112221;8300609;8323539;8384721;8485124;8490626;8530039;8626595;8728311;9136889;9379936;9829992;9888420;9920938;9925661", "class_list": "", "function": "Component of chylomicrons, very low-density lipoproteins (VLDL), low-density lipoproteins (LDL), and high-density lipoproteins (HDL) in plasma. Plays an important role in lipoprotein metabolism as an activator of lipoprotein lipase. Both proapolipoprotein C-II and apolipoprotein C-II can activate lipoprotein lipase. In normolipidemic individuals, it is mainly distributed in the HDL, whereas in hypertriglyceridemic individuals, predominantly found in the VLDL and LDL., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Includes the observation of APOC4-APOC2 read-through transcription, [RefSeq, PubMed]; Lactylated Apolipoprotein C-II Induces Immunotherapy Resistance by Promoting Extracellular Lipolysis., [RefSeq, PubMed]; This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. 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 upstream apolipoprotein C-IV (APOC4) 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": 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": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 13, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "C0JYY4;Q9BS39;Q9UDE3;Q9UNK3", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding;GO:0055102 lipase inhibitor activity;GO:0060230 lipoprotein lipase activator activity;GO:0016004 phospholipase activator activity;GO:0043274 phospholipase binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005769 early endosome;GO:0034363 intermediate-density lipoprotein particle;GO:0034361 very-low-density lipoprotein particle", "go_biological_process": "GO:0010898 positive regulation of triglyceride catabolic process;GO:0033700 phospholipid efflux;GO:0016042 lipid catabolic process;GO:0033344 cholesterol efflux;GO:0042632 cholesterol homeostasis", "synthesized_glycan_count": 0, "hit_score": 18.7, "record_id": "P02655-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04083-1", "uniprot_id": [ { "id": "ANXA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P04083", "type": "external" } ], "mass": 38714.0, "length": 346, "protein_name": "Annexin A1", "gene_name": "ANXA1", "organism": "Human", "refseq_name": "annexin A1", "refseq_ac": [ { "id": "NP_000691", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000691", "type": "external" } ], "gene_names_uniprotkb": "ANXA1; ANX1; LPC1", "gene_names_refseq": "ANX1; ANXA1; LPC1", "protein_names_uniprotkb": "Annexin A1; Annexin I; Annexin-1; Calpactin II; Calpactin-2; Chromobindin-9; Lipocortin I; Phospholipase A2 inhibitory protein; p35", "protein_names_refseq": "annexin A1; annexin I (lipocortin I); annexin-1; calpactin II; calpactin-2; chromobindin-9; epididymis secretory sperm binding protein; phospholipase A2 inhibitory protein", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); colitis (Disease Ontology:DOID:0060180); dry eye syndrome (Disease Ontology:DOID:10140); pleurisy (Disease Ontology:DOID:10247); stomach cancer (Disease Ontology:DOID:10534); hypertension (Disease Ontology:DOID:10763); uveitis (Disease Ontology:DOID:13141); paranasal sinus benign neoplasm (Disease Ontology:DOID:1350); hypothyroidism (Disease Ontology:DOID:1459); squamous cell carcinoma (Disease Ontology:DOID:1749); pancreatic cancer (Disease Ontology:DOID:1793); brain ischemia (Disease Ontology:DOID:2316); transitional cell carcinoma (Disease Ontology:DOID:2671); keratosis follicularis (Disease Ontology:DOID:2734); invasive ductal carcinoma (Disease Ontology:DOID:3008); acute kidney failure (Disease Ontology:DOID:3021); malignant astrocytoma (Disease Ontology:DOID:3069); ischemia (Disease Ontology:DOID:326); cerebral infarction (Disease Ontology:DOID:3526); pulmonary fibrosis (Disease Ontology:DOID:3770); renal cell carcinoma (Disease Ontology:DOID:4450); seborrheic keratosis (Disease Ontology:DOID:6498); hyperthyroidism (Disease Ontology:DOID:7998); cataract (Disease Ontology:DOID:83); psoriasis (Disease Ontology:DOID:8893)", "pathway": " (hsa:301); (R-HSA-416476); (R-HSA-418594); (R-HSA-444473); (R-HSA-445355); (R-HSA-6785807); (R-HSA-9925563)", "pathway_count": 7, "publication_count": 264, "publication_id_list": "10.1038/emboj.2013.79;10023775;10191087;10219247;10369418;10510379;10567430;10586089;10673436;10727532;10772777;10861009;10867011;10991994;11007482;11015615;11058569;11084045;11104795;11120780;11237011;11242081;11278437;11278729;11356008;11404481;11457814;11463377;11532985;11742120;11753430;11782012;11889009;11960372;12048254;12120503;12223527;12242343;12600988;12832402;1374236;14506282;14627618;14634100;14712222;15116091;15187149;15261459;15377279;15485879;15584925;15592455;156362;15805299;15869882;15950906;15951850;16007214;16048438;16107692;16182515;16205632;16236134;16268778;16339447;16397018;16451196;16510571;16540365;16606674;16634148;16754659;16923326;17008549;17055381;17427945;17458857;17572495;18083107;18243101;1832554;18353781;18434541;18447642;18491316;18515384;18566442;18577758;18641677;18644974;18669648;18936096;18974361;19054851;1905813;19124156;19185846;1930128;19380584;19397496;19428336;19531498;19608861;19625660;20068231;20305658;20493732;21081667;21102457;21252155;21280599;2161213;21689689;21730069;21872626;21937440;21994466;22046235;22205702;22223895;22383755;22421042;22693070;22778174;22792315;22851691;22869377;22879591;22898188;23086340;23124025;23172665;23186163;23455323;23555662;23584533;23834404;23967200;24097101;24103589;24275569;2457390;24743777;24782913;24872348;25114211;25234944;2526655;2532504;2534964;25576301;25645385;25664854;25772364;25880248;26154972;26362469;26375851;26552660;26992070;27397612;2748346;27600516;2764880;27679490;27862975;28228285;2834384;2841328;28649982;28741090;28832583;29242379;2936963;29393594;29493099;29557506;29632711;29786170;30192525;30429286;30444036;3086311;31217245;31611695;31844290;32157095;32272059;32350084;32357974;32387766;32488085;32897882;32938616;32983136;3303336;33043033;33123756;33214551;33298915;33592498;33912179;33968037;33981976;34019948;34171305;34357683;34405274;34509645;34725712;34944403;35008409;35051231;35138101;35251023;35318648;35580925;36010968;36215666;36241641;36284347;37217939;3780718;37938771;38665916;38842205;38874830;39032857;39174522;7510216;7512451;7529288;7795521;7796300;7898939;7907877;7937899;8015379;8085155;8406495;8425544;8453382;8557678;8602263;8621622;8663118;8664309;8668165;8797861;8816495;8858389;9013879;9305846;9481611;9598563;9600334;9651359;9723655;9736340;9770463;9822675;9855623;9874564;9915835", "class_list": "glycogene", "function": "Annexin A1 binds PDZ and LIM domain 7 to inhibit adipogenesis and prevent obesity. Publication Status: Online-Only, [RefSeq, PubMed]; Annexin A1 protects epidermal stem cells against ultraviolet-B irradiation-induced mitochondrial dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; Functions at least in part by activating the formyl peptide receptors and downstream signaling cascades (PubMed:15187149, PubMed:22879591, PubMed:25664854). Promotes chemotaxis of granulocytes and monocytes via activation of the formyl peptide receptors (PubMed:15187149). Promotes rearrangement of the actin cytoskeleton, cell polarization and cell migration (PubMed:15187149). Promotes resolution of inflammation and wound healing (PubMed:25664854). Acts via neutrophil N-formyl peptide receptors to enhance the release of CXCL2 (PubMed:22879591)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; PRMT6 Promotes the Immune Evasion of Gastric Cancer by Upregulating ANXA1., [RefSeq, PubMed]; Plays important roles in the innate immune response as effector of glucocorticoid-mediated responses and regulator of the inflammatory process. Has anti-inflammatory activity (PubMed:8425544). Plays a role in glucocorticoid-mediated down-regulation of the early phase of the inflammatory response (By similarity). Contributes to the adaptive immune response by enhancing signaling cascades that are triggered by T-cell activation, regulates differentiation and proliferation of activated T cells (PubMed:17008549). Promotes the differentiation of T cells into Th1 cells and negatively regulates differentiation into Th2 cells (PubMed:17008549). Has no effect on unstimulated T cells (PubMed:17008549). Negatively regulates hormone exocytosis via activation of the formyl peptide receptors and reorganization of the actin cytoskeleton (PubMed:19625660). Has high affinity for Ca(2+) and can bind up to eight Ca(2+) ions (By similarity). Displays Ca(2+)-dependent binding to phospholipid membranes (PubMed:2532504, PubMed:8557678). Plays a role in the formation of phagocytic cups and phagosomes. Plays a role in phagocytosis by mediating the Ca(2+)-dependent interaction between phagosomes and the actin cytoskeleton (By similarity). In the context of antitumor immunity, interacts with FPR1 on dendritic cells allowing for tumor-associated antigens uptake and cross-presentation to T cells to mount an antitumor specific T cell response., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; TAZ downregulated ANXA1 expression to modulate myeloma cell interactions with bone marrow mesenchymal stromal cells., [RefSeq, PubMed]; This gene encodes a membrane-localized protein that binds phospholipids. This protein inhibits phospholipase A2 and has anti-inflammatory activity. Loss of function or expression of this gene has been detected in multiple tumors. [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": 2, "reported_phosphosites": 21, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 453, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 25, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B5BU38", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005543 phospholipid binding;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0001891 phagocytic cup;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0043066 negative regulation of apoptotic process;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 27.0, "record_id": "P04083-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09525-1", "uniprot_id": [ { "id": "ANXA4_HUMAN", "url": "https://www.uniprot.org/uniprot/P09525", "type": "external" } ], "mass": 35883.0, "length": 319, "protein_name": "Annexin A4", "gene_name": "ANXA4", "organism": "Human", "refseq_name": "annexin A4 isoform a", "refseq_ac": [ { "id": "NP_001144", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001144", "type": "external" } ], "gene_names_uniprotkb": "ANXA4; ANX4", "gene_names_refseq": "ANX4; ANXA4; HEL-S-274; P32.5; PAP-II; PIG28; PP4-X; ZAP36", "protein_names_uniprotkb": "Annexin A4; 35-beta calcimedin; Annexin IV; Annexin-4; Carbohydrate-binding protein p33/p41; Chromobindin-4; Endonexin I; Lipocortin IV; P32.5; PAP-II; PP4-X; Placental anticoagulant protein II; Protein II", "protein_names_refseq": "35-beta calcimedin; annexin A4 isoform a; annexin IV (placental anticoagulant protein II); annexin-4; carbohydrate-binding protein p33/p41; chromobindin-4; endonexin I; epididymis secretory protein Li 274; lipocortin IV; proliferation-inducing gene 28; proliferation-inducing protein 28", "tax_id": 9606, "disease": "", "pathway": " (hsa:307)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "11237011;1346776;17074750;18991276;19608861;2254922;23719902;24275569;25502872;25505266;25880248;26375851;27600516;28228285;28467828;28514659;28832583;28855257;29242379;29393594;29557506;29632711;2970257;2974032;2975506;29786170;30315122;30397120;30573663;30833945;31154438;31217245;31844290;31848261;32157095;32350084;32387766;32488085;32897882;32938616;32983136;32986366;33043033;33125094;33592498;33717175;33761465;33912179;33968037;34171305;34357683;34932366;35051231;35154160;35318648;35580925;35862065;36284347;38665916;9084877", "class_list": "glycogene", "function": "Annexin IV (ANX4) belongs to the annexin family of calcium-dependent phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. ANX4 has 45 to 59% identity with other members of its family and shares a similar size and exon-intron organization. Isolated from human placenta, ANX4 encodes a protein that has possible interactions with ATP, and has in vitro anticoagulant activity and also inhibits phospholipase A2 activity. ANX4 is almost exclusively expressed in epithelial cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2016]., [RefSeq]; Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis., [UniProtKB]; Clinical Significance of Annexin A4 as a Biomarker in the Early Diagnosis of Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Evidence of an Annexin A4 mediated plasma membrane repair response to biomechanical strain associated with glaucoma pathogenesis., [RefSeq, PubMed]; Membrane-cytoplasm translocation of annexin A4 is involved in the metastasis of colorectal carcinoma., [RefSeq, PubMed]; P53 and ANXA4/NFkappaB p50 complexes regulate cell proliferation, apoptosis and tumor progression in ovarian clear cell carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DDF9;Q6LES2;Q96F33;Q9BWK1", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding;GO:0051059 NF-kappaB binding;GO:0005544 calcium-dependent phospholipid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0031012 extracellular matrix", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007165 signal transduction;GO:0030855 epithelial cell differentiation;GO:0043066 negative regulation of apoptotic process;GO:0043124 negative regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "P09525-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P27216-1", "uniprot_id": [ { "id": "ANX13_HUMAN", "url": "https://www.uniprot.org/uniprot/P27216", "type": "external" } ], "mass": 35415.0, "length": 316, "protein_name": "Annexin A13", "gene_name": "ANXA13", "organism": "Human", "refseq_name": "annexin A13 isoform b", "refseq_ac": [ { "id": "NP_001003954", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003954", "type": "external" } ], "gene_names_uniprotkb": "ANXA13; ANX13", "gene_names_refseq": "ANX13; ANXA13; ISA", "protein_names_uniprotkb": "Annexin A13; Annexin XIII; Annexin-13; ISA; Intestine-specific annexin", "protein_names_refseq": "annexin A13 isoform b; annexin XIII; annexin, intestine-specific; annexin-13; intestine-specific annexin", "tax_id": 9606, "disease": "", "pathway": " (hsa:312)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;11961095;1530946;25418920;26110394;27397612;27676605;27862975;28411811;28423508;30610115;31154438;32157095;33119820;34171305;35051231", "class_list": "", "function": "A mechanism for how the association of the ANX A13a isoform with the membrane is regulated, [RefSeq, PubMed]; ANXA13 is associated with colorectal cancer cell invasion in vitro, and with lymph node metastasis and poor survival in colorectal cancer patients, [RefSeq, PubMed]; Binds to membranes enriched in phosphatidylserine or phosphatidylglycerol in a calcium-dependent manner (PubMed:27676605, PubMed:30610115). Half-maximal membrane binding requires about 60 uM calcium. Does not bind to membranes that lack phospholipids with an acidic headgroup (PubMed:27676605)., [UniProtKB, PubMed, PubMed]; High ANXA13 expression is associated with Refractory Lupus Nephritis. Publication Status: Online-Only, [RefSeq, PubMed]; Intracellular Transport of Ribosome-Inactivating Proteins Depends on Annexin 13., [RefSeq, PubMed]; The unique, conserved aspects of annexin A13 primary structure, gene organization, and genetic maps identify it as the probable common ancestor of all vertebrate annexins., [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. The specific function of this gene has not yet been determined; however, it is associated with the plasma membrane of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes. 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q9BQR5", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005544 calcium-dependent phospholipid binding;GO:0001786 phosphatidylserine binding;GO:1901611 phosphatidylglycerol binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0030154 cell differentiation;GO:0042998 positive regulation of Golgi to plasma membrane protein transport;GO:0042997 negative regulation of Golgi to plasma membrane protein transport", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "P27216-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36405-1", "uniprot_id": [ { "id": "ARL3_HUMAN", "url": "https://www.uniprot.org/uniprot/P36405", "type": "external" } ], "mass": 20456.0, "length": 182, "protein_name": "ADP-ribosylation factor-like protein 3", "gene_name": "ARL3", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 3", "refseq_ac": [ { "id": "NP_004302", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004302", "type": "external" } ], "gene_names_uniprotkb": "ARL3; ARFL3", "gene_names_refseq": "ARFL3; ARL3; JBTS35; RP83", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 3", "protein_names_refseq": "ADP ribosylation factor like GTPase 3; ADP-ribosylation factor-like 3; ADP-ribosylation factor-like protein 3; ARF-like 3", "tax_id": 9606, "disease": "Joubert syndrome (Disease Ontology:DOID:0050777); retinitis pigmentosa 2 (Disease Ontology:DOID:0110415); autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); retinitis pigmentosa 83 (Disease Ontology:DOID:0112140); Joubert syndrome 35 (MONDO:MONDO:0032570)", "pathway": " (hsa:403); (R-HSA-5624138)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10513815;10831612;11303027;11847227;12417528;15077113;15104674;16472755;16525022;18376416;18588884;19850956;20068231;20106869;21285245;22085962;22389062;22884633;22960633;23301498;24714562;24715725;25418920;25576301;25892735;26728094;26964041;26992070;27846572;27920218;28063628;28218747;28228285;28832583;28834231;29393594;29437277;29557506;29632046;29769354;30269812;30315122;30833945;31530632;31844290;31998317;32157095;32265295;32502341;32938616;32983136;33968037;33981976;34171305;34208932;35154160;35580925;37440046;38457249;8034651", "class_list": "", "function": "Human Mutations in Arl3, a Small GTPase Involved in Lipidated Cargo Delivery to the Cilia, Cause Retinal Dystrophy., [RefSeq, PubMed]; Mechanism of Guanosine Triphosphate Hydrolysis by the Visual Proteins Arl3-RP2: Free Energy Reaction Profiles Computed with Ab Initio Type QM/MM Potentials. Publication Status: Online-Only, [RefSeq, PubMed]; Mechanisms underlying morphological and functional changes of cilia in fibroblasts derived from patients bearing ARL3[T31A] and ARL3[T31A/C118F] mutations., [RefSeq, PubMed]; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP) (PubMed:16525022, PubMed:18588884). Required for normal cytokinesis and cilia signaling (PubMed:22085962). Requires assistance from GTPase-activating proteins (GAPs) like RP2 and PDE6D, in order to cycle between inactive GDP-bound and active GTP-bound forms. Required for targeting proteins to the cilium, including myristoylated NPHP3 and prenylated INPP5E (PubMed:30269812). Targets NPHP3 to the ciliary membrane by releasing myristoylated NPHP3 from UNC119B cargo adapter into the cilium (PubMed:22085962). Required for PKD1:PKD2 complex targeting from the trans-Golgi network to the cilium (By similarity)., [UniProtKB, 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "reported_glycation": 0, "reported_snv": 4, "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": "B2R6C7;Q53X83;Q5JSM2", "ec_number_list": [], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0008017 microtubule binding;GO:0019003 GDP 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:0015031 protein transport;GO:0001822 kidney development;GO:0007264 small GTPase-mediated signal transduction;GO:0060271 cilium assembly;GO:0000281 mitotic cytokinesis", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "P36405-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42330-1", "uniprot_id": [ { "id": "AK1C3_HUMAN", "url": "https://www.uniprot.org/uniprot/P42330", "type": "external" } ], "mass": 36853.0, "length": 323, "protein_name": "Aldo-keto reductase family 1 member C3", "gene_name": "AKR1C3", "organism": "Human", "refseq_name": "aldo-keto reductase family 1 member C3 isoform 2", "refseq_ac": [ { "id": "NP_001240837", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240837", "type": "external" } ], "gene_names_uniprotkb": "AKR1C3; DDH1; HSD17B5; KIAA0119; PGFS", "gene_names_refseq": "AKR1C3; DD3; DDX; HA1753; HAKRB; HAKRe; HSD17B5; PGFS; hluPGFS", "protein_names_uniprotkb": "Aldo-keto reductase family 1 member C3; 1.1.1.-; 1.1.1.188; 1.1.1.210; 1.1.1.239; 1.1.1.357; 1.1.1.53; 1.1.1.62; 1.1.1.64; 17-beta-HSD 5; 17-beta-hydroxysteroid dehydrogenase type 5; 3-alpha-HSD type 2; 3-alpha-HSD type II, brain; 3-alpha-hydroxysteroid dehydrogenase type 2; Chlordecone reductase homolog HAKRb; DD-3; DD3; Dihydrodiol dehydrogenase 3; Dihydrodiol dehydrogenase type I; HA1753; PGFS; Prostaglandin F synthase; Testosterone 17-beta-dehydrogenase 5", "protein_names_refseq": "3-alpha hydroxysteroid dehydrogenase, type II; 3-alpha-HSD type II, brain; aldo-keto reductase family 1 member C3 isoform 2; chlordecone reductase homolog HAKRb; dihydrodiol dehydrogenase 3; dihydrodiol dehydrogenase X; indanol dehydrogenase; prostaglandin F synthase; testosterone 17-beta-dehydrogenase 5; trans-1,2-dihydrobenzene-1,2-diol dehydrogenase; type IIb 3-alpha hydroxysteroid dehydrogenase", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); ductal carcinoma in situ (Disease Ontology:DOID:0060074); B-lymphoblastic leukemia/lymphoma (Disease Ontology:DOID:0080630); castration-resistant prostate carcinoma (Disease Ontology:DOID:0080909); prostate cancer (Disease Ontology:DOID:10283); pre-eclampsia (Disease Ontology:DOID:10591); polycystic ovary syndrome (Disease Ontology:DOID:11612); leukemia (Disease Ontology:DOID:1240); T-cell acute lymphoblastic leukemia (Disease Ontology:DOID:5603)", "pathway": " (hsa:8644); (R-HSA-193368); (R-HSA-193775); (R-HSA-193807); (R-HSA-2162123); (R-HSA-5365859); (R-HSA-975634)", "pathway_count": 7, "publication_count": 176, "publication_id_list": "10051404;10052934;10092594;10329026;10369264;10377398;10377455;10479480;10557352;10588945;10622721;10655068;10672042;10748047;10749848;10769148;10839978;10922363;10966456;10998348;11007799;11060341;11060344;11067870;11158055;11165022;11181758;11237011;11245473;11274389;11297515;11465543;11672424;11673457;11980911;12036956;12226107;12627223;12679481;12680773;1279089;12835322;1380156;1400444;14532297;14596915;14640697;14672942;14979715;14996743;15047184;15087468;15115769;15358783;1542003;15583000;16200213;16475787;16828555;16939223;1708392;17449869;17525477;17641676;17644776;18006499;18039331;18087047;18295589;18460466;18493841;18507396;1856611;18682561;18805086;1889753;19000823;19010934;19014918;19139408;20036328;2019602;20667974;20801113;20950588;21106934;21323680;21467029;21529158;21621639;21851338;22019272;23220587;2384150;24106281;24189185;27397612;27862975;2793848;28510447;28832583;28904123;29242379;2935875;29393594;29557506;29789417;29790264;3013304;30779550;30833945;31844290;31848261;31926269;31998317;32157095;32161166;32387766;32897882;33592498;33968037;34185709;35318648;35580925;36241641;36284347;3714052;37344179;38003379;38122923;38188684;38349266;3862115;3942763;3954355;4345202;4514999;4521806;4776443;5057882;5284360;5675424;6420172;6961410;7005231;7508385;7552725;7626489;7649182;7650035;7683668;7925341;7947975;8017323;8034703;8175750;8274401;8384721;8387517;8493914;8728311;8901870;8902629;8943006;9139685;9219313;9228021;9415401;9626023;9660774;9677409;9705317;9888420;9920938;9925661;9927279", "class_list": "", "function": "AKR1C3 silencing inhibits autophagy-dependent glycolysis in thyroid cancer cells by inactivating ERK signaling., [RefSeq, PubMed]; Aldo-keto reductase family member C3 (AKR1C3) promotes hepatocellular carcinoma cell growth by producing prostaglandin F2alpha. Publication Status: Online-Only, [RefSeq, PubMed]; Cytosolic aldo-keto reductase that catalyzes NADPH-dependent reduction of ketosteroids to hydroxysteroids. Displays broad substrate specificity with distinct positional and stereochemistry, primarily generating 17beta-hydroxysteroids, but also 3alpha- and 20alpha-hydroxysteroids (PubMed:10998348, PubMed:11165022, PubMed:20036328, PubMed:9415401, PubMed:9927279, PubMed:10998348, PubMed:9927279). Produces potent androgens via classical and 'backdoor'/alternative pathways. In the classical androgen metabolic pathway (biosynthesis of 5alpha-dihydrotestosterone (5alpha-DHT) via testosterone), catalyzes the reduction of delta4-androstenedione to form testosterone (PubMed:10998348, PubMed:11165022, PubMed:20036328, PubMed:9415401, PubMed:9927279). In the 'backdoor' androgen metabolic pathway (biosynthesis of 5alpha-dihydrotestosterone (5alpha-DHT) via pregnanes), reduces androsterone to 5alpha-androstane-3alpha,17beta-diol preceding 5alpha-DHT secretion (PubMed:10557352, PubMed:10998348, PubMed:9415401). Reduces 5alpha-DHT to less potent androgen 5alpha-androstane-3alpha,17beta-diol, likely regulating ligand availability for androgen receptors (PubMed:10557352, PubMed:10998348, PubMed:11165022, PubMed:14672942, PubMed:7650035, PubMed:9415401). May contribute to the metabolism of adrenal-derived androgen precursors. Reduces 11-keto-4-androstene-3,17-dione (11KA4) and 11-keto-5alpha-androstane-3,17-dione (11K-Adione) into potent androgens 11-ketotestosterone (11KT) and 11-ketodihydrotestosterone (11KDHT), respectively (PubMed:31926269). In estrogen metabolism, catalyzes the conversion of estrone to potent estrogen 17beta-estradiol (PubMed:10998348, PubMed:11165022, PubMed:20036328). Acts as a prostaglandin (PG) F2alpha synthase. Displays 11-ketoreductase and 9,11-endoperoxide reductase activities and reduces PGD2 to 11beta-PGF2alpha and PGH2 to PGF2alpha (PubMed:10622721, PubMed:11165022, PubMed:15047184, PubMed:19010934, PubMed:20036328, PubMed:7650035, PubMed:9415401, PubMed:9927279). Also displays retinaldehyde reductase activity toward 9-cis-retinal (PubMed:21851338). In vitro can efficiently catalyze bidirectional conversion between ketosteroids and hydroxysteroids using NADPH/NADP(+) or NADH/NAD(+) as cofactors. In vivo however, the reductase activity prevails since the major reducing cofactor NADPH inhibits NAD(+)-dependent oxidase activity (PubMed:11165022, PubMed:14672942). In addition, it is able to reduce in vitro various carbonyl compounds like menadione, phenanthrenequinone and nitrobenzaldehyde (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; In Vitro Evaluation of the Reductase Activities of Human AKR1C3 Allelic Variants., [RefSeq, PubMed]; Inhibition of aldo-keto reductase 1C3 overcomes gemcitabine/cisplatin resistance in bladder cancer., [RefSeq, PubMed]; Keratinocytes Exposed to Blue or Red Light: Proteomic Characterization Showed Cytoplasmic Thioredoxin Reductase 1 and Aldo-Keto Reductase Family 1 Member C3 Triggered Expression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found 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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 9, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K2V0;B4DL37;Q5T2L1;Q96DJ1;Q96KI8;Q99530;Q9UCX1;Q9UII3;Q9UKL9", "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": "1.1.1.62", "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": "1.1.1.315", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.315", "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": "1.1.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.51", "type": "external" }, { "id": "1.1.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.21", "type": "external" }, { "id": "1.1.1.372", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.372", "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": "1.1.1.188", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.188", "type": "external" }, { "id": "1.3.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.3", "type": "external" }, { "id": "1.1.1.112", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.112", "type": "external" }, { "id": "1.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.20", "type": "external" }, { "id": "1.1.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.149", "type": "external" }, { "id": "1.1.1.330", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.330", "type": "external" }, { "id": "1.1.1.n12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.n12", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "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:0004032 aldose reductase (NADPH) activity;GO:0004745 all-trans-retinol dehydrogenase (NAD+) activity;GO:0001758 retinal dehydrogenase (NAD+) activity;GO:0047787 Delta4-3-oxosteroid 5beta-reductase activity;GO:0008106 alcohol dehydrogenase (NADP+) activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0043170 macromolecule metabolic process;GO:0001523 retinoid metabolic process;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007584 response to nutrient;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 17.9, "record_id": "P42330-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52895-1", "uniprot_id": [ { "id": "AK1C2_HUMAN", "url": "https://www.uniprot.org/uniprot/P52895", "type": "external" } ], "mass": 36735.0, "length": 323, "protein_name": "Aldo-keto reductase family 1 member C2", "gene_name": "AKR1C2", "organism": "Human", "refseq_name": "aldo-keto reductase family 1 member C2 isoform 2", "refseq_ac": [ { "id": "NP_001128713", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128713", "type": "external" } ], "gene_names_uniprotkb": "AKR1C2; DDH2", "gene_names_refseq": "AKR1C-pseudo; AKR1C2; BABP; DD-2; DD/BABP; DD2; DDH2; DD; HAKRD; HBAB; MCDR2; SRXY8; TDD", "protein_names_uniprotkb": "Aldo-keto reductase family 1 member C2; 1.1.1.112; 1.1.1.209; 1.1.1.357; 1.1.1.51; 1.1.1.62; 1.3.1.20; 3-alpha-HSD3; Chlordecone reductase homolog HAKRD; DD-2; DD/BABP; DD2; Dihydrodiol dehydrogenase 2; Dihydrodiol dehydrogenase/bile acid-binding protein; Type III 3-alpha-hydroxysteroid dehydrogenase", "protein_names_refseq": "3-alpha hydroxysteroid dehydrogenase, type III; 3-alpha-HSD3; aldo-keto reductase family 1 member C2 isoform 2; bile acid binding protein; chlordecone reductase homolog HAKRD; dihydrodiol dehydrogenase 2; pseudo-chlordecone reductase; testicular 17,20-desmolase deficiency; trans-1,2-dihydrobenzene-1,2-diol dehydrogenase; type II dihydrodiol dehydrogenase", "tax_id": 9606, "disease": "46,XY sex reversal 8 (Disease Ontology:DOID:0111773); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1646); (R-HSA-193368); (R-HSA-193775); (R-HSA-193807)", "pathway_count": 4, "publication_count": 74, "publication_id_list": "10051404;10092594;10377398;10479480;10588945;10655068;10672042;10748047;10749848;10998348;11060344;11067870;11158055;11237011;11513593;11514561;11673457;11980911;11995921;12416991;12604236;12679481;1400444;14640697;14672942;15929998;16112985;17034817;1708392;17442338;19218247;2019602;21802064;2384150;24189185;24434280;24715725;25576301;27397612;28228285;29557506;30833945;31844290;31926269;32157095;32387766;32678482;33298915;33675863;34171305;34509645;35051231;35318648;35580925;36241641;36284347;36701414;37498066;37938771;38662237;7508385;7649182;7959017;8011662;8034703;8274401;8387517;8486699;8573067;8902629;8920937;8943006;9660774;9716498", "class_list": "", "function": "AKR1C2 acts as a targetable oncogene in esophageal squamous cell carcinoma via activating PI3K/AKT signaling pathway., [RefSeq, PubMed]; AKR1C2 and AKR1C3 expression in adipose tissue: Association with body fat distribution and regulatory variants., [RefSeq, PubMed]; AKR1C2 genetic variants mediate tobacco carcinogens metabolism involving bladder cancer susceptibility., [RefSeq, PubMed]; Comprehensive analysis regarding the prognostic significance of downregulated ferroptosis-related gene AKR1C2 in gastric cancer and its underlying roles in immune response. Publication Status: Online-Only, [RefSeq, PubMed]; Cytosolic aldo-keto reductase that catalyzes NADPH-dependent reduction of ketosteroids to hydroxysteroids. Displays broad substrate specificity with distinct positional and stereochemistry, primarily generating 3alpha-hydroxysteroids, but also 3beta-, 17beta- and 20alpha-hydroxysteroids (PubMed:8920937, PubMed:9716498, PubMed:10998348, PubMed:12416991, PubMed:11995921, PubMed:12604236, PubMed:14672942, PubMed:19218247, PubMed:21802064, PubMed:11514561, PubMed:15929998, PubMed:17034817, PubMed:17442338, PubMed:24434280). Required for male sex determination as a component of the 'backdoor' androgen biosynthesis pathway that generates 5alpha-dihydrotestosterone (5alpha-DHT) via pregnanes. Acts together with AKR1C4 to convert 5alpha-dihydroprogesterone (5alpha-DHP) to 3alpha-hydroxy-5alpha-pregnan-20-one (3alpha,5alpha-THP/allopregnanolone), leading to 5alpha-DHT secretion necessary for embryonic gonad differentiation into testis (PubMed:12416991, PubMed:21802064). In androgen catabolism, may predominantly act as a phase I enzyme by introducing a hydroxyl group prior to conjugation. It can nevertheless participate in the alternative phase II pathway by directly reducing sulfate- or glucuronide-conjugated androgens (PubMed:10998348, PubMed:11514561, PubMed:14672942, PubMed:15929998, PubMed:19218247, PubMed:24434280). In neurosteroid biosynthesis, may preferentially reduce 5alpha-dihydroprogesterone (5-alpha-DHP) and 5alpha-dihydrodeoxycorticosterone (5-alpha-DHDOC) precursors to 3alpha-hydroxy-5alpha-pregnan-20-one (3alpha,5alpha-THP/allopregnanolone) and 3alpha,21-dihydroxy-5alpha-pregnane-20-one (3alpha,5alpha-THDOC) neuroactive steroids known to alter neural excitability via allosteric activation of gamma-aminobutyric acid type A receptors (GABAAR) (PubMed:11995921, PubMed:12416991, PubMed:12604236). Regulates ligand availability for steroid hormone receptors. Catalyzes the inactivation of 5alpha-DHT and progesterone converting them into 3alpha/beta-androstanediols and (20S)-hydroxypregn-4-en-3-one, respectively (PubMed:10998348, PubMed:24434280). Can form 17beta-hydroxysteroids such as testosterone and estradiol albeit with lower efficiency when compared to AKR1C3 (PubMed:10998348). May contribute to the metabolism of adrenal-derived androgens via reduction of 11-keto-5alpha-androstane-3,17-dione (11K-Adione) into 11-ketoandrosterone (11KAST) and of 11-ketodihydrotestosterone (11KDHT) into 11-keto-5alpha-androstane-3alpha/beta,17beta-diol (11K-A3alphadiol) (PubMed:31926269). May also play a role in prostaglandin (PG) metabolism by reducing PGD2 to 11beta-PGF2 (PubMed:9716498). Also able to metabolize xenobiotics (S)-indan-1-ol and trans-1,2-dihydrobenzene-1,2-diols (PubMed:8573067, PubMed:9716498). In vitro can efficiently catalyze bidirectional conversion between ketosteroids and hydroxysteroids using NADPH/NADP(+) or NADH/NAD(+) as cofactors. In vivo however, the reductase activity prevails since the major reducing cofactor NADPH inhibits NAD(+)-dependent oxidase activity (PubMed:14672942, PubMed:21802064)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Function, drug resistance and prognostic effect of AKR1C2 in human cancer., [RefSeq, PubMed]; This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found 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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K2N9;B4DKR9;Q14133;Q5SR16;Q7M4N1;Q96A71", "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": "1.1.1.62", "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": "1.1.1.315", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.315", "type": "external" }, { "id": "1.1.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.51", "type": "external" }, { "id": "1.1.1.225", "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": "1.1.1.210", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.210", "type": "external" }, { "id": "1.1.1.188", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.188", "type": "external" }, { "id": "1.1.1.112", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.112", "type": "external" }, { "id": "1.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.20", "type": "external" }, { "id": "1.1.1.270", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.270", "type": "external" }, { "id": "1.1.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.149", "type": "external" }, { "id": "1.1.1.330", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.330", "type": "external" }, { "id": "1.1.1.n12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.n12", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" }, { "id": "1.1.1.179", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.179", "type": "external" }, { "id": "1.1.1.115", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.115", "type": "external" }, { "id": "1.1.1.119", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.119", "type": "external" }, { "id": "1.1.1.120", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.120", "type": "external" } ], "go_molecular_function": "GO:0004032 aldose reductase (NADPH) activity;GO:0031406 carboxylic acid binding;GO:0004303 estradiol 17-beta-dehydrogenase [NAD(P)+] activity;GO:0016655 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor;GO:0047023 androsterone dehydrogenase [NAD(P)+] activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0030855 epithelial cell differentiation;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0007586 digestion", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "P52895-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58335-1", "uniprot_id": [ { "id": "ANTR2_HUMAN", "url": "https://www.uniprot.org/uniprot/P58335", "type": "external" } ], "mass": 53666.0, "length": 489, "protein_name": "Anthrax toxin receptor 2", "gene_name": "ANTXR2", "organism": "Human", "refseq_name": "anthrax toxin receptor 2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001139266", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139266", "type": "external" } ], "gene_names_uniprotkb": "ANTXR2; CMG2", "gene_names_refseq": "ANTXR2; CMG-2; CMG2; HFS; ISH; JHF", "protein_names_uniprotkb": "Anthrax toxin receptor 2; CMG-2; Capillary morphogenesis gene 2 protein", "protein_names_refseq": "anthrax toxin receptor 2 isoform 2 precursor; anthrax toxin receptor 2; capillary morphogenesis gene 2 protein; capillary morphogenesis protein 2", "tax_id": 9606, "disease": "fibroma (Disease Ontology:DOID:0050871); hyaline fibromatosis syndrome (Disease Ontology:DOID:0111669); anthrax disease (Disease Ontology:DOID:7427)", "pathway": " (hsa:118429)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;11683410;12551953;12700348;12973667;14508707;15079089;15243628;15326297;15337774;15725249;19486894;19690332;23719902;25645385;28467828;28832583;29242379;29393594;29557506;29786170;31154438;31844290;32350084;32387766;32938616;32983136;33043033;33392160;33592498;33968037;34171305;34357683;34433824;34782625;35051231;35154160;35189107;35251023;35886995;36316045;38674361", "class_list": "", "function": "(Microbial infection) Receptor for the protective antigen (PA) of B.anthracis (PubMed:12700348, PubMed:15243628, PubMed:15326297). Binding of PA leads to heptamerization of the receptor-PA complex (PubMed:12700348, PubMed:15243628, PubMed:15326297). Upon binding of the PA of B.anthracis, the complex moves to glycosphingolipid-rich lipid rafts, where it is internalized via a clathrin-dependent pathway (PubMed:12551953, PubMed:15337774). In the endosomal membrane, at pH under 7, the complex then rearranges and forms a pore allowing the other components of anthrax toxin to escape to the cytoplasm (PubMed:12551953, PubMed:15337774)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Anthrax toxin receptor 2 is a potential therapeutic target for non-small cell lung carcinoma with MET exon 14 skipping mutations., [RefSeq, PubMed]; Identification and characterization of juvenile hyaline fibromatosis and infantile systemic hyalinosis disease-causing mutations in the capillary morphogenesis factor-2 gene, [RefSeq, PubMed]; Investigating the Influence of ANTXR2 Gene Mutations on Protective Antigen Binding for Heightened Anthrax Resistance. Publication Status: Online-Only, [RefSeq, PubMed]; Multiple stages of evolutionary change in anthrax toxin receptor expression in humans. Publication Status: Online-Only, [RefSeq, PubMed]; Necessary for cellular interactions with laminin and the extracellular matrix., [UniProtKB, PubMed, PubMed]; Sex Hormone-regulated CMG2 Is Involved in Breast and Prostate Cancer Progression., [RefSeq, PubMed]; The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "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": "Q4W5H6;Q59E98;Q5JPE9;Q86UI1;Q8N4J8;Q8NB13;Q96NC7", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0046872 metal ion binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0005789 endoplasmic reticulum membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "P58335-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P84077-1", "uniprot_id": [ { "id": "ARF1_HUMAN", "url": "https://www.uniprot.org/uniprot/P84077", "type": "external" } ], "mass": 20697.0, "length": 181, "protein_name": "ADP-ribosylation factor 1", "gene_name": "ARF1", "organism": "Human", "refseq_name": "ADP-ribosylation factor 1", "refseq_ac": [ { "id": "NP_001019397", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019397", "type": "external" } ], "gene_names_uniprotkb": "ARF1", "gene_names_refseq": "ARF1; PVNH8", "protein_names_uniprotkb": "ADP-ribosylation factor 1; 3.6.5.2", "protein_names_refseq": "ADP ribosylation factor 1; ADP-ribosylation factor 1", "tax_id": 9606, "disease": "periventricular nodular heterotopia (Disease Ontology:DOID:0050454); periventricular nodular heterotopia 8 (Disease Ontology:DOID:0061245)", "pathway": " (hsa:375); (R-HSA-1660499); (R-HSA-1660514); (R-HSA-167590); (R-HSA-199992); (R-HSA-2132295); (R-HSA-432720); (R-HSA-432722); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-6811438); (R-HSA-8950505); (R-HSA-9845576)", "pathway_count": 13, "publication_count": 402, "publication_id_list": "10022920;10036229;10052452;10064083;10072072;10101268;10102276;10189370;10194451;10224048;10318838;10394364;10419465;10436028;10445031;10480952;10540230;10555148;10559940;10559959;10567352;10593899;10593988;10631941;10631952;10639150;10652308;10652516;10679020;10748235;10753883;10761932;10764818;10766823;10805725;10806194;10809954;10822173;10903204;10921873;11001876;11035033;11084340;11101518;11139587;11172815;11237011;11279162;11285137;11302699;11306556;11333915;11349134;11461920;11493604;11529500;11590181;11604140;11604418;11676921;11684289;11689559;11694590;11703931;11706043;11716755;11718716;11726511;11733541;11739780;11748249;11790530;11813165;11853874;11877430;11923287;11950392;11994746;12011112;12047556;12070132;12078484;12101241;12118066;12198549;12324459;12383348;12388752;12422219;12429822;12536145;12634853;12646134;12742663;12748383;12808147;12847086;14504276;14516276;14527956;14617813;14654841;14659893;14660569;14690595;14731593;14742712;14993220;15029241;15037235;15080793;15102850;15107860;15135396;15202998;15272311;15308674;15329726;15464023;15504911;15616190;15632110;15716355;15718469;15728195;15749704;15758030;1577740;15797027;15813748;15840652;15878873;15911768;16030262;16038020;16103222;16154996;16155256;16181339;16242130;1631136;16399794;16476736;16522682;16571679;16618111;16633337;16723730;1680566;16824007;16867982;16912714;16914545;16926190;16940185;16979564;16984405;17008356;17105344;17113389;17116749;17142755;17245604;17253781;17274799;17283181;17347647;17360540;17377532;17429068;17451557;17555535;17556371;17651088;17687330;17760859;17927562;17956946;17980653;18046453;18086915;18093523;18182008;18256213;18283113;18287528;18292509;18317235;18451304;18524849;18669648;18692471;18753295;18809720;18950639;18973100;1898986;18991276;1899243;19015319;19038970;19109418;19151722;19164740;19211563;19296914;19369418;19536132;19559397;1956401;19564404;1957170;19631211;19651769;19668216;19715559;19758564;19896968;19940249;20005805;20068231;20136777;2014052;20163571;20213681;20230749;20357002;20427317;20462495;20534429;20534812;20637885;20708039;20874812;21116285;21204784;2121367;21219331;21441454;21454700;21550981;21620353;21689688;21807881;21844168;2190094;22013193;22037487;22094269;22188167;22223895;22304919;22647598;23091056;23239882;23290777;23378023;23396477;23462996;23519112;23535599;23758345;23791178;23839779;23863933;23889934;2391366;23936529;23940353;24058294;24119662;24366607;24494924;2474826;24806965;25255805;25364732;25436559;25492864;25495341;25502872;25505266;25576301;25708460;25807930;26154972;26202220;26992070;28834231;28868155;28904123;29317506;29557506;31217245;31568712;31844290;32339554;32350084;32502341;33141586;33214551;33392160;33968037;34019948;34499882;35138101;35251023;37914730;38906140;38963337;39052890;7481823;7592972;7608176;7624799;7628435;7650016;7667286;7691276;7761412;7844144;7990966;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8221884;8253837;8313912;8374173;8397411;8415765;8505331;8524399;8620540;8634694;8636227;8642258;8670264;8681945;8687433;8723348;8769125;8810314;8849454;8861955;8909537;8939989;8945478;8947036;8991093;8999962;9075930;9094719;9113989;9114004;9148941;9150144;9177194;9202021;9211928;9244307;9286278;9288971;9295334;9311912;9312039;9323141;9367159;9380700;9382863;9405360;9405935;9428629;9476900;9490716;9497313;9510256;9514948;9516481;9524259;9539769;9545226;9593664;9606180;9614177;9653114;9660759;9660833;9671725;9707577;9727496;9733768;9751720;9811831;9830063;9878262;9915833;9990005", "class_list": "", "function": "(Microbial infection) Functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase., [UniProtKB]; ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. The family members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking as activators of phospholipase D. The gene products, including 6 ARF proteins and 11 ARF-like proteins, constitute a 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. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling. Publication Status: Online-Only, [RefSeq, PubMed]; Astrocytic LRP1 enables mitochondria transfer to neurons and mitigates brain ischemic stroke by suppressing ARF1 lactylation., [RefSeq, PubMed]; GTP-binding protein involved in protein trafficking; modulates vesicle budding and uncoating within the Golgi apparatus., [UniProtKB, UniProtKB, UniProtKB]; Small GTPase involved in protein trafficking between different compartments (PubMed:8253837). Modulates vesicle budding and uncoating within the Golgi complex (PubMed:8253837). In its GTP-bound form, triggers the recruitment of coatomer proteins to the Golgi membrane (PubMed:8253837). The hydrolysis of ARF1-bound GTP, which is mediated by ARFGAPs proteins, is required for dissociation of coat proteins from Golgi membranes and vesicles (PubMed:8253837). The GTP-bound form interacts with PICK1 to limit PICK1-mediated inhibition of Arp2/3 complex activity; the function is linked to AMPA receptor (AMPAR) trafficking, regulation of synaptic plasticity of excitatory synapses and spine shrinkage during long-term depression (LTD) (By similarity). Plays a key role in the regulation of intestinal stem cells and gut microbiota, and is essential for maintaining intestinal homeostasis (By similarity). Also plays a critical role in mast cell expansion but not in mast cell maturation by facilitating optimal mTORC1 activation (By similarity)., [UniProtKB, PubMed, UniProtKB]; THUMPD3-AS1 inhibits ovarian cancer cell apoptosis through the miR-320d/ARF1 axis., [RefSeq, PubMed]; Variations associated with neurodevelopmental disorders affect ARF1 function and cortical 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "P10947;P32889", "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": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "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": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "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": "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": "2.7.1.67", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.67", "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:0000287 magnesium ion binding;GO:0003723 RNA binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0019904 protein domain specific binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion", "go_biological_process": "GO:0006878 intracellular copper ion homeostasis;GO:0006886 intracellular protein transport;GO:0060292 long-term synaptic depression;GO:0097061 dendritic spine organization;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 40.5, "record_id": "P84077-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02040-1", "uniprot_id": [ { "id": "AK17A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02040", "type": "external" } ], "mass": 80735.0, "length": 695, "protein_name": "A-kinase anchor protein 17A", "gene_name": "AKAP17A", "organism": "Human", "refseq_name": "A-kinase anchor protein 17A isoform 1", "refseq_ac": [ { "id": "NP_005079", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005079", "type": "external" } ], "gene_names_uniprotkb": "AKAP17A; CXYorf3; DXYS155E; SFRS17A; XE7", "gene_names_refseq": "721P; AKAP-17A; AKAP17A; CCDC133; CXYorf3; DXYS155E; PRKA17A; SFRS17A; XE7Y; XE7", "protein_names_uniprotkb": "A-kinase anchor protein 17A; 721P; AKAP-17A; B-lymphocyte antigen; PRKA17A; Protein XE7; Protein kinase A-anchoring protein 17A; Splicing factor, arginine/serine-rich 17A", "protein_names_refseq": "A kinase (PRKA) anchor protein 17A; A-kinase anchor protein 17A isoform 1; A-kinase anchor protein 17A; B-lymphocyte surface antigen; protein kinase A-anchoring protein 17A; pseudoautosomal gene XE7; splicing factor, arginine/serine-rich 17A", "tax_id": 9606, "disease": "", "pathway": " (hsa:8227)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12176931;1302606;1438229;14759258;16982639;17081983;18212344;18452278;18669648;19007248;19415658;19651622;19691289;19840947;20068231;21406692;23186163;23481700;24275569;25114211;25418920;25576301;25645385;26154972;26992070;27846572;27920218;28063628;28832583;29242379;29393594;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30429286;30524438;30779550;31154438;31530632;31844290;31848261;32157095;32265295;32387766;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33981976;34019948;34932366;35051231;35318648;35580925;35705054;36228153;36284347;37217939;40136647", "class_list": "", "function": "Splice factor regulating alternative splice site selection for certain mRNA precursors. Mediates regulation of pre-mRNA splicing in a PKA-dependent manner., [UniProtKB, PubMed, PubMed]; The spliceosomal component XE7 resembles an SR-related splicing protein, and can influence alternative splicing., [RefSeq, PubMed]; This locus encodes a protein kinase A anchoring protein. The encoded protein is part of the spliceosome complex and is involved in the regulation of alternate splicing in some mRNA precursors. Alternatively spliced transcript variants have been identified 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": 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": 6, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q02832;Q2TB98;Q5JQ74;Q5JQ76;Q8N6U9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0051018 protein kinase A binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0006397 mRNA processing;GO:0007165 signal transduction;GO:0006355 regulation of DNA-templated transcription;GO:0042113 B cell activation;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q02040-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13795-1", "uniprot_id": [ { "id": "ARFRP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13795", "type": "external" } ], "mass": 22614.0, "length": 201, "protein_name": "ADP-ribosylation factor-related protein 1", "gene_name": "ARFRP1", "organism": "Human", "refseq_name": "ADP-ribosylation factor-related protein 1 isoform b", "refseq_ac": [ { "id": "NP_001128230", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128230", "type": "external" } ], "gene_names_uniprotkb": "ARFRP1; ARP1", "gene_names_refseq": "ARFRP1; ARL18; ARP; Arp1", "protein_names_uniprotkb": "ADP-ribosylation factor-related protein 1; ARF-related protein 1; ARP", "protein_names_refseq": "ADP ribosylation factor related protein 1; ADP-ribosylation factor-related protein 1 isoform b; SCG10 like-protein; epididymis secretory sperm binding protein; helicase-like protein NHL", "tax_id": 9606, "disease": "", "pathway": " (hsa:10139); (R-HSA-6811440)", "pathway_count": 2, "publication_count": 110, "publication_id_list": "10209123;10445031;10559959;10637310;10655513;10865125;10990452;11303027;11346801;11359012;11689439;11827983;11839770;12070132;12377769;12620188;12620189;14580338;14718928;15029241;15037235;15077113;15077114;15128430;15269279;15483056;15654769;15758030;15870108;15878329;16042553;16129887;16571679;16885419;16912714;16936697;16959974;17451557;17488291;17562788;17684057;17698061;18195106;18243103;18256213;18367545;18664496;18946081;19164740;19490898;19620288;20068231;20685960;21183348;21421921;21436057;21689688;21807881;22223895;22335553;22354037;22581368;22717455;23091056;23437303;24366607;24715725;24794632;25343031;25502872;27846572;28218747;29317506;29437277;29557506;30348522;30429286;31217245;31575603;31844290;32157095;32350084;32357974;32897882;32931797;32938616;32972971;33141586;33298915;33359402;33592498;33691108;33936100;33968037;34087483;34932366;35051231;35154160;36010968;7909812;8221884;8440258;8530503;8620540;8636227;8670882;9050864;9177194;9230071;9590177", "class_list": "", "function": "Lack of Arfrp1 increases the abundance of lipolysis-modulating enzymes TERA/VCP, FAF2 and Plin2 at LDs, which might decrease lipolysis and reduce availability of fatty acids for triglyceride synthesis and their release via chylomicrons., [RefSeq, PubMed]; LncRNA ARFRP1 knockdown inhibits LPS-induced the injury of chondrocytes by regulation of NF-kappaB pathway through modulating miR-15a-5p/TLR4 axis., [RefSeq, PubMed]; The ARFRP1 is a master regulator of retrograde-carrier tethering to the trans-Golgi network (TGN). Erratum:[J Cell Biol. 2019 Nov 4;218(11):3880-3881. doi: 10.1083/jcb.20190509710072019c. PMID: 31604800], [RefSeq, PubMed]; The ARFRP1-dependent Golgi scaffolding protein GOPC is required for insulin secretion from pancreatic beta-cells., [RefSeq, PubMed]; The amphipathic helices of Arfrp1 and Arl14 are sufficient to determine subcellular localizations., [RefSeq, PubMed]; The protein encoded by this gene is a membrane-associated GTP-ase which localizes to the plasma membrane and is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) proteins. This gene plays a role in membrane trafficking between the trans-Golgi network and endosomes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]., [RefSeq]; Trans-Golgi-associated GTPase that regulates protein sorting. Controls the targeting of ARL1 and its effector to the trans-Golgi. Required for the lipidation of chylomicrons in the intestine and required for VLDL lipidation in the liver., [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": 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": "A0A087WY13;B7ZKX7;E1P5J9;Q6IBQ0;V9GYH4", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane;GO:0032588 trans-Golgi network membrane;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0007165 signal transduction;GO:0043001 Golgi to plasma membrane protein transport;GO:0042147 retrograde transport, endosome to Golgi;GO:0034067 protein localization to Golgi apparatus", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q13795-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15052-1", "uniprot_id": [ { "id": "ARHG6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15052", "type": "external" } ], "mass": 87499.0, "length": 776, "protein_name": "Rho guanine nucleotide exchange factor 6", "gene_name": "ARHGEF6", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 6 isoform 2", "refseq_ac": [ { "id": "NP_001293106", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293106", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF6; COOL2; KIAA0006; PIXA", "gene_names_refseq": "ARHGEF6; COOL2; Cool-2; MRX46; PIXA; alpha-PIX; alphaPIX", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 6; Alpha-Pix; COOL-2; PAK-interacting exchange factor alpha; Rac/Cdc42 guanine nucleotide exchange factor 6", "protein_names_refseq": "PAK-interacting exchange factor, alpha; Rac/Cdc42 guanine exchange factor (GEF) 6; Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6; rho guanine nucleotide exchange factor 6 isoform 2; rho guanine nucleotide exchange factor 6", "tax_id": 9606, "disease": "intellectual disability (Disease Ontology:DOID:1059)", "pathway": " (hsa:9459); (R-HSA-193648); (R-HSA-416482); (R-HSA-446388); (R-HSA-8964616); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013420)", "pathway_count": 8, "publication_count": 377, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10873802;10958683;11007481;11017088;11058585;11085924;11149925;11283606;11294240;11306516;11313914;11337747;11373293;11396949;11431473;11432776;11459829;11584276;11606631;11672528;11696321;11704860;11707441;11742120;11756498;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11961559;12071859;12093360;12096337;12097334;12101119;12123608;12172552;12195014;12221096;12351724;12432077;12433842;12464619;12499396;12515866;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12860998;12877655;12887923;12907671;12923183;14506234;14512443;14514689;1464587;14673001;14675773;14718541;15005707;15023524;15033976;15064355;15107133;15133129;15144186;15147912;15157669;15159419;15260990;15302923;15302935;15304341;15339924;15342493;15350535;15470142;15485661;15507211;15556869;15579468;15601624;15611138;15699075;15728722;15749160;15817463;15850391;15858067;15897194;15951850;16002401;16094384;16112081;16116428;16184169;16212495;16217026;16243036;16473593;16492808;16507994;16517730;16519628;16630611;16636067;16702231;16714282;16762923;16777452;16777849;16862148;16896804;16914516;16923326;16964243;16968698;17064668;17077126;17081983;17145773;17196961;17214551;17244649;17504809;17583407;17599059;17702745;17765681;17804252;17932950;17976533;18006505;18045877;18056264;18218625;18249095;18347018;18363964;18374420;18396277;18426980;18436335;18491316;18577758;18578522;18653540;18669648;18767875;18786931;18835169;18838382;18929667;19064640;19212140;19269969;19413330;19415658;19494238;19605563;19664994;19673492;19690332;19713215;19934221;20058876;20068231;20166139;20400958;20460433;20547754;20679435;20810653;21148482;21454492;21508312;21542010;21565175;21613211;21685891;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22461490;22475431;22571869;22608513;22661716;22734669;22970203;23186163;23200924;23209303;23255595;23285027;23288169;23406282;23434736;23481700;23572525;23707487;23718289;23783831;23940355;24086303;24259668;24275569;24335996;24352656;24584464;24715725;24859002;24933155;24960694;24996924;25024229;25211221;25414122;25428919;25694429;25704760;25721503;25795300;25862245;25892735;25963737;26129894;26154972;26299518;26507661;26529257;26598554;26598620;26887924;26992070;27072905;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27862975;28028151;28114311;28121444;28196833;28228285;28825699;28832583;28834231;28860633;29089502;29242379;29351928;29358323;29382922;29393594;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30007591;30061681;30429286;30853411;31844290;31871319;32157095;32203420;32350084;32387766;32502341;32737221;32897882;32938616;32983136;33123756;33141586;33691108;33717175;33912179;33936100;33968037;34509645;34932366;35051231;35580925;36010968;36284347;36414417;36586227;37027440;37058762;37938771;40914422;7479768;7512369;7559638;7673236;7721814;7753201;7835339;7937899;8021274;8107774;8537347;8543060;8617235;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9268338;9305890;9308960;9405671;9438849;9490638;9497316;9520479;9582072;9659915;9670022;9792683;9796816;9822598;9829970;9843499;9846874;9988689", "class_list": "", "function": "Acts as a RAC1 guanine nucleotide exchange factor (GEF)., [UniProtKB]; Clinical implication and potential function of ARHGEF6 in acute myeloid leukemia: An in vitro study. Publication Status: Online-Only, [RefSeq, PubMed]; Comprehensive analysis identifies ARHGEF6 as a potential prognostic and immunological biomarker in lung adenocarcinoma., [RefSeq, PubMed]; Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs., [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 belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific cognitive disability. [provided by RefSeq, Jul 2008]., [RefSeq]; The pathological significance and potential mechanism of ARHGEF6 in lung adenocarcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 20, "reported_mutagensis": 0, "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": "A6NMW9;A8K6S7;B1AL37;Q15396;Q5JQ66;Q7Z3W1;Q86XH0", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005911 cell-cell junction;GO:0030027 lamellipodium", "go_biological_process": "GO:0006915 apoptotic process;GO:0007254 JNK cascade;GO:0030032 lamellipodium assembly", "synthesized_glycan_count": 0, "hit_score": 38.2, "record_id": "Q15052-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15389-1", "uniprot_id": [ { "id": "ANGP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15389", "type": "external" } ], "mass": 57513.0, "length": 498, "protein_name": "Angiopoietin-1", "gene_name": "ANGPT1", "organism": "Human", "refseq_name": "angiopoietin-1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137", "type": "external" } ], "gene_names_uniprotkb": "ANGPT1; KIAA0003", "gene_names_refseq": "AGP1; AGPT-1; AGPT; ANG1; ANGPT1; HAE5", "protein_names_uniprotkb": "Angiopoietin-1; ANG-1", "protein_names_refseq": "ANG-1; angiopoietin-1 isoform 1 precursor", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); stroke (Disease Ontology:DOID:0051061); prostate carcinoma (Disease Ontology:DOID:10286); hypertension (Disease Ontology:DOID:10763); gastric ulcer (Disease Ontology:DOID:10808); hereditary angioedema (Disease Ontology:DOID:14735); brain ischemia (Disease Ontology:DOID:2316); ovarian cancer (Disease Ontology:DOID:2394); nephrosis (Disease Ontology:DOID:2527); transitional cell carcinoma (Disease Ontology:DOID:2671); endometrial adenocarcinoma (Disease Ontology:DOID:2870); renal cell carcinoma (Disease Ontology:DOID:4450); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); in situ carcinoma (Disease Ontology:DOID:8719); diabetic retinopathy (Disease Ontology:DOID:8947); angioedema, hereditary, 5 (MONDO:MONDO:0030293)", "pathway": " (hsa:284); (R-HSA-210993); (R-HSA-5673001)", "pathway_count": 3, "publication_count": 102, "publication_id_list": "10.1038/emboj.2013.79;10051567;10508167;10521483;10869344;11027663;11090077;11136978;11191051;11237011;11313946;11447223;11546808;11566266;11607834;11689432;11702783;11856872;11969368;12032311;12094235;12121613;12427764;14506247;14665640;14707138;14749497;15284220;15356145;1545823;15546878;15893672;16627759;16684964;16895971;1716764;17998941;18425119;18425120;18775330;1898771;19234476;19279408;19920141;20054809;20478380;20651738;21102635;21372320;21779497;21779505;21993244;22569528;22589270;22750304;23090970;23103841;23303910;23443682;23575685;23584533;23592718;24190977;24897931;24937142;25219551;25781681;26085527;28601681;28778966;29323190;29557506;30689269;31135801;32157095;32938616;33392160;33592498;33968037;36385374;36662891;37074911;37249455;39000274;6148751;7478529;7809086;7935463;7972015;8052307;8394845;8493579;8665852;8710374;8939933;8980223;9204896;9604935;9632797;9690470;9764820;9927426", "class_list": "", "function": "Analysis of Expression of the ANG1, CaSR and FAK Proteins in Uterine Fibroids. Publication Status: Online-Only, [RefSeq, PubMed]; Binds and activates TEK/TIE2 receptor by inducing its dimerization and tyrosine phosphorylation. Plays an important role in the regulation of angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, but also maintenance of vascular quiescence. Required for normal angiogenesis and heart development during embryogenesis. After birth, activates or inhibits angiogenesis, depending on the context. Inhibits angiogenesis and promotes vascular stability in quiescent vessels, where endothelial cells have tight contacts. In quiescent vessels, ANGPT1 oligomers recruit TEK to cell-cell contacts, forming complexes with TEK molecules from adjoining cells, and this leads to preferential activation of phosphatidylinositol 3-kinase and the AKT1 signaling cascades. In migrating endothelial cells that lack cell-cell adhesions, ANGT1 recruits TEK to contacts with the extracellular matrix, leading to the formation of focal adhesion complexes, activation of PTK2/FAK and of the downstream kinases MAPK1/ERK2 and MAPK3/ERK1, and ultimately to the stimulation of sprouting angiogenesis. Mediates blood vessel maturation/stability. Implicated in endothelial developmental processes later and distinct from that of VEGF. Appears to play a crucial role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Genomic structures of the human angiopoietins show polymorphism in angiopoietin-2, [RefSeq, PubMed]; Increased Angiopoietin-1 and -2 levels in human vitreous are associated with proliferative diabetic retinopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Intracellular angiopoietin-1 promotes TKI-resistance via activation of JAK/STAT5 pathway in chronic myeloid leukemia., [RefSeq, PubMed]; Polymorphisms in TIE2 and ANGPT-1 genes are associated with protection against diabetic retinopathy in a Brazilian population., [RefSeq, PubMed]; This gene encodes a secreted glycoprotein that belongs to the angiopoietin family. Members of this family play important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The protein encoded by this gene is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. It plays a critical role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme and inhibits endothelial permeability. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. Mutations in this gene are associated with hereditary angioedema. [provided by RefSeq, Aug 2020]., [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": 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": 42, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 17, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q5HYA0", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0030971 receptor tyrosine kinase binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0045121 membrane raft", "go_biological_process": "GO:0001525 angiogenesis;GO:0007162 negative regulation of cell adhesion;GO:0007171 activation of transmembrane receptor protein tyrosine kinase activity;GO:0010628 positive regulation of gene expression;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q15389-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16352-1", "uniprot_id": [ { "id": "AINX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16352", "type": "external" } ], "mass": 55391.0, "length": 499, "protein_name": "Alpha-internexin", "gene_name": "INA", "organism": "Human", "refseq_name": "alpha-internexin", "refseq_ac": [ { "id": "NP_116116", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116116", "type": "external" } ], "gene_names_uniprotkb": "INA; NEF5", "gene_names_refseq": "INA; NEF5; NF-66; NF66; TXBP-1", "protein_names_uniprotkb": "Alpha-internexin; 66 kDa neurofilament protein; Alpha-Inx; NF-66; Neurofilament 5; Neurofilament-66", "protein_names_refseq": "66 kDa neurofilament protein; alpha-Inx; alpha-internexin; neurofilament 5 (66kD); neurofilament-66, tax-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9118)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "16959974;17525332;19608861;23301498;25576301;25645385;25892735;26154972;26992070;28411811;28657654;28832583;28834231;29242379;29557506;29632711;29769354;30078552;30379171;30833945;31092671;31844290;31848261;32157095;32938616;32983136;33051252;33592498;33936100;33968037;34019948;34171305;35051231;35318648;35580925;36010968;36241641;37938771;38665916;39990658;7769995", "class_list": "", "function": "Class-IV neuronal intermediate filament that is able to self-assemble. It is involved in the morphogenesis of neurons. It may form an independent structural network without the involvement of other neurofilaments or it may cooperate with NEFL to form the filamentous backbone to which NEFM and NEFH attach to form the cross-bridges. May also cooperate with the neuronal intermediate filament protein PRPH to form filamentous networks (By similarity)., [UniProtKB, UniProtKB]; Epigenetic Inactivation of alpha-Internexin Accelerates Microtubule Polymerization in Colorectal Cancer., [RefSeq, PubMed]; Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene is a member of the intermediate filament family and is involved in the morphogenesis of neurons. [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": 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": 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": "B1AQK0;Q9BRC5", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0099184 structural constituent of postsynaptic intermediate filament cytoskeleton", "go_cellular_component": "GO:0005615 extracellular space;GO:0005882 intermediate filament;GO:0036464 cytoplasmic ribonucleoprotein granule;GO:0005883 neurofilament;GO:0099160 postsynaptic intermediate filament cytoskeleton", "go_biological_process": "GO:0030154 cell differentiation;GO:0021762 substantia nigra development;GO:0045109 intermediate filament organization;GO:0099170 postsynaptic modulation of chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q16352-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5H913-1", "uniprot_id": [ { "id": "AR13A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5H913", "type": "external" } ], "mass": 33003.0, "length": 290, "protein_name": "ADP-ribosylation factor-like protein 13A", "gene_name": "ARL13A", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 13A", "refseq_ac": [ { "id": "NP_001155963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155963", "type": "external" } ], "gene_names_uniprotkb": "ARL13A", "gene_names_refseq": "ARL13A; ARL13; dJ341D10.2", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 13A; ARF-like GTPase 13A", "protein_names_refseq": "ADP ribosylation factor like GTPase 13A; ADP-ribosylation factor-like 13A; ADP-ribosylation factor-like 13; ADP-ribosylation factor-like protein 13A", "tax_id": 9606, "disease": "", "pathway": " (hsa:392509)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;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": 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": "B2RTT6;B4DX50", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0031514 motile cilium;GO:0097730 non-motile cilium;GO:0060170 ciliary membrane", "go_biological_process": "GO:1905515 non-motile cilium assembly;GO:0097500 receptor localization to non-motile cilium", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q5H913-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q66PJ3-8", "uniprot_id": [ { "id": "AR6P4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q66PJ3", "type": "external" } ], "mass": 26375.0, "length": 237, "protein_name": "ADP-ribosylation factor-like protein 6-interacting protein 4", "gene_name": "ARL6IP4", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 7", "refseq_ac": [ { "id": "NP_001265309", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265309", "type": "external" } ], "gene_names_uniprotkb": "ARL6IP4", "gene_names_refseq": "ARL6IP4; SFRS20; SR-25; SRp25; SRrp37", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 6-interacting protein 4; ARL-6-interacting protein 4; Aip-4; HSP-975; HSVI-binding protein; SR-15; SR-25; SRp25; Splicing factor SRrp37", "protein_names_refseq": "ADP ribosylation factor like GTPase 6 interacting protein 4; ADP-ribosylation factor GTPase 6 interacting protein 4; ADP-ribosylation factor-like 6 interacting protein 4; ADP-ribosylation factor-like protein 6-interacting protein 4 isoform 7; ADP-ribosylation factor-like protein 6-interacting protein 4; ADP-ribosylation-like factor 6 interacting protein 4; ARL-6-interacting protein 4; HSP-975; HSVI binding protein; SR-15; SRp25 nuclear protein; aip-4; splicing factor SRrp37; splicing factor, arginine/serine-rich 20; splicing regulator SRrp38", "tax_id": 9606, "disease": "", "pathway": " (hsa:51329)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10.1101/2023.09.13.557529;10708573;11884129;17081983;18669648;18772245;19369195;19582790;19690332;20068231;21406692;22299025;23186163;24275569;26728094;28832583;28834231;29242379;31530632;31848261;32161166;37938771", "class_list": "", "function": "Involved in modulating alternative pre-mRNA splicing with either 5' distal site activation or preferential use of 3' proximal site. In case of infection by Herpes simplex virus (HSVI), may act as a splicing inhibitor of HSVI pre-mRNA., [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": 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": 0, "reported_glycation": 0, "reported_snv": 6, "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": "A4UCR8;B3V0L0;B3V0L1;Q4F966;Q504R8;Q96BI2;Q9NR05;Q9P2R9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0016607 nuclear speck", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q66PJ3-8", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6Q4G3-1", "uniprot_id": [ { "id": "AMPQ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6Q4G3", "type": "external" } ], "mass": 113283.0, "length": 990, "protein_name": "Aminopeptidase Q", "gene_name": "LVRN", "organism": "Human", "refseq_name": "aminopeptidase Q", "refseq_ac": [ { "id": "NP_776161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_776161", "type": "external" } ], "gene_names_uniprotkb": "LVRN; AQPEP", "gene_names_refseq": "APQ; AQPEP; LVRN; TAQPEP", "protein_names_uniprotkb": "Aminopeptidase Q; 3.4.11.-; AP-Q; APQ; CHL2 antigen; Laeverin", "protein_names_refseq": "AP-Q; CHL2 antigen; aminopeptidase Q", "tax_id": 9606, "disease": "", "pathway": " (hsa:206338)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10.1101/2023.09.13.557529;14706636;15897020;16804865;17525158;19578876;26154972;29355889;29681208;29769354;31844290;33355358;33982062;35051231;35580925", "class_list": "", "function": "A novel membrane-bound cell surface peptidase, laeverin (FLJ90650), was found to be specifically expressed on extravillous trophoblasts that had almost ceased invasion into maternal decidual tissues. Review article, [RefSeq, PubMed]; Extravillous trophoblasts express laeverin, a novel protein that belongs to membrane-bound gluzincin metallopeptidases(laeverin), [RefSeq, PubMed]; First trimester maternal serum laeverin level cannot be used to predict preeclampsia., [RefSeq, PubMed]; Is a novel bestatin-sensitive leucine aminopeptidase; plays important roles in human placentation by regulating biological activity of key peptides at the embryo-maternal interface, [RefSeq, PubMed]; Laeverin is expressed in all trophoblast cell types of normal and preeclamptic placentas. Expression pattern of laeverin in trophoblast cells is heterogeneous and not necessarily membrane-bound., [RefSeq, PubMed]; Metalloprotease which may be important for placentation by regulating biological activity of key peptides at the embryo-maternal interface. On synthetic substrates it shows a marked preference for Leu-4-methylcoumaryl-7-amide (Leu-MCA) over Met-MCA, Arg-LCA and Lys-LCA. Cleaves the N-terminal amino acid of several peptides such as angiotensin-3, kisspeptin-10 and endokinin C., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Overexpression of LVRN impedes the invasion of trophoblasts by inhibiting epithelial-mesenchymal transition., [RefSeq, PubMed]; PRG2 and AQPEP are misexpressed in fetal membranes in placenta previa and percretadagger., [RefSeq, PubMed]; The 3 most significantly overexpressed genes in rheumatoid arthritis were laeverin, 11beta-hydroxysteroid dehydrogenase type 2 (a steroid pathway enzyme), and cysteine-rich, angiogenic inducer 61 (a known angiogenic factor)., [RefSeq, PubMed]", "predicted_glycosites": 8, "predicted_n_glycosites": 7, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 55, "reported_interactions": 0, "missing_score": 9290, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A8K6J0;C9JGD2;Q32MR1;Q4G0I9;Q4G0V2;Q86XA3;Q8NBZ2", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0070006 metalloaminopeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0016020 membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0043171 peptide catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q6Q4G3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UX39-1", "uniprot_id": [ { "id": "AMTN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UX39", "type": "external" } ], "mass": 21588.0, "length": 209, "protein_name": "Amelotin", "gene_name": "AMTN", "organism": "Human", "refseq_name": "amelotin isoform 2 precursor", "refseq_ac": [ { "id": "NP_001273660", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273660", "type": "external" } ], "gene_names_uniprotkb": "AMTN; PRO1329", "gene_names_refseq": "AI3B; AMTN; UNQ689", "protein_names_uniprotkb": "Amelotin", "protein_names_refseq": "RSTI689; amelotin isoform 2 precursor", "tax_id": 9606, "disease": "amelogenesis imperfecta type 3B (Disease Ontology:DOID:0080243)", "pathway": " (hsa:401138); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 3, "publication_count": 70, "publication_id_list": "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;12975309;1370451;1383255;15126567;15308688;15340161;15469690;15485880;15525596;15642270;16959974;17047378;17249697;17312271;17985932;2476804;2479552;25407797;25789606;26091039;26620968;27412008;29282478;32160961;34087483;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "Amelotin is expressed in retinal pigment epithelium and localizes to hydroxyapatite deposits in dry age-related macular degeneration., [RefSeq, PubMed]; Is a promoter of calcium phosphate mineralization, playing a critical role in the formation of the compact, mineralized, aprismatic enamel surface layer during the maturation stage of amelogenesis., [UniProtKB, PubMed]; Results show that AMTN and KLK4 are not essential for biological processes outside of the dentition or during the secretory stage of amelogenesis. Both KLK4 and AMTN proved to be essential for the maturation of dental enamel, a process that requires the removal of extracellularmatrix proteins and the deposition of ions on the sides of enamel crystallites. Review article, [RefSeq, PubMed]; TNF-alpha stimulates AMTN gene transcription in human gingival epithelial cells via C/EBP1, C/EBP2, and YY1 elements in the human AMTN gene promoter., [RefSeq, PubMed]; The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008]., [RefSeq]; This study demonstrates for the first time that AMTN mutations cause non-syndromic human Amelogenesis imperfecta (AI) and explores the human phenotype, comparing it with that of mice with disrupted Amtn 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q0P503;Q0P506", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0005911 cell-cell junction;GO:0031012 extracellular matrix;GO:0005604 basement membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0042475 odontogenesis of dentin-containing tooth;GO:0031214 biomineral tissue development;GO:0070169 positive regulation of biomineral tissue development;GO:0070175 positive regulation of enamel mineralization", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q6UX39-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZTN6-3", "uniprot_id": [ { "id": "AN13D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZTN6", "type": "external" } ], "mass": 68172.0, "length": 605, "protein_name": "Ankyrin repeat domain-containing protein 13D", "gene_name": "ANKRD13D", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 13D isoform 2", "refseq_ac": [ { "id": "NP_001334830", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334830", "type": "external" } ], "gene_names_uniprotkb": "ANKRD13D", "gene_names_refseq": "ANKRD13D", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 13D", "protein_names_refseq": "ankyrin repeat domain 13 family, member D; ankyrin repeat domain-containing protein 13D isoform 2; ankyrin repeat domain-containing protein 13D", "tax_id": 9606, "disease": "", "pathway": " (hsa:338692)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "18669648;19690332;19913121;22298428;23186163;23481700;28832583;29242379;38449090", "class_list": "", "function": "Identification of ANKRD13D as a potential target in renal cell carcinomas., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; 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]; The protein encoded by this gene is a member of the ankyrin repeat domain (ANKRD) 13 family, which currently consists of four proteins containing ubiquitin-interacting motifs. These proteins are integral membrane proteins that bind specifically to Lys-63-linked ubiquitin chains on membrane-bound proteins, targeting those proteins for rapid internalization. [provided by RefSeq, Dec 2016]., [RefSeq]; 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": 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": "D6RCN6;Q0VAK0;Q0VGC3;Q6ZVD0;Q86SU1", "ec_number_list": [], "go_molecular_function": "GO:0140036 ubiquitin-modified protein reader activity", "go_cellular_component": "GO:0005737 cytoplasm;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": 1.0, "record_id": "Q6ZTN6-3", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L4S7-1", "uniprot_id": [ { "id": "ARMX6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L4S7", "type": "external" } ], "mass": 33019.0, "length": 300, "protein_name": "Protein ARMCX6", "gene_name": "ARMCX6", "organism": "Human", "refseq_name": "protein ARMCX6", "refseq_ac": [ { "id": "NP_001009584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009584", "type": "external" } ], "gene_names_uniprotkb": "ARMCX6", "gene_names_refseq": "ARMCX6; GASP10", "protein_names_uniprotkb": "Protein ARMCX6", "protein_names_refseq": "protein ARMCX6", "tax_id": 9606, "disease": "", "pathway": " (hsa:54470)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "17081983;18767875;24715725;28832583;28904123;29242379;30429286;31154438;31530632;31844290;31848261;32357974;33592498;33968037;34087483;35051231;35494241;35580925;36010968;38489177", "class_list": "", "function": "An X Chromosome Transcriptome Wide Association Study Implicates ARMCX6 in Alzheimer's Disease., [RefSeq, PubMed]; May regulate the dynamics and distribution of mitochondria in neural cells., [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": 4, "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": "Q9NWJ3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:1904115 axon cytoplasm", "go_biological_process": "GO:0019896 axonal transport of mitochondrion", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q7L4S7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UN6-1", "uniprot_id": [ { "id": "AKA28_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UN6", "type": "external" } ], "mass": 22815.0, "length": 197, "protein_name": "A-kinase anchor protein 14", "gene_name": "AKAP14", "organism": "Human", "refseq_name": "A-kinase anchor protein 14 isoform b", "refseq_ac": [ { "id": "NP_001008534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008534", "type": "external" } ], "gene_names_uniprotkb": "AKAP14; AKAP28", "gene_names_refseq": "AKAP14; AKAP28; PRKA14", "protein_names_uniprotkb": "A-kinase anchor protein 14; A-kinase anchor protein 28 kDa; AKAP 28; AKAP-14; PRKA14; Protein kinase A-anchoring protein 14", "protein_names_refseq": "A kinase (PRKA) anchor protein 14; A-kinase anchor protein 14 isoform b; A-kinase anchor protein 14; A-kinase anchor protein 28 kDa; A-kinase anchoring protein 28; AKAP 28; AKAP-14; protein kinase A-anchoring protein 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:158798)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "12475942;25892735;29769354;37217939", "class_list": "", "function": "AKAP28 likely plays a role in the signaling necessary for efficient modulation of ciliary beat frequency, [RefSeq, PubMed]; Binds to type II regulatory subunits of protein kinase A and anchors/targets them., [UniProtKB]; 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 protein anchors PKA in ciliary axonemes and, in this way, may play a role in regulating ciliary beat frequency. 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NNZ0;Q86UN4;Q86UN5", "ec_number_list": [], "go_molecular_function": "GO:0034237 protein kinase A regulatory subunit binding", "go_cellular_component": "GO:0005930 axoneme;GO:0005952 cAMP-dependent protein kinase complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q86UN6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VW2-1", "uniprot_id": [ { "id": "ARHGP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VW2", "type": "external" } ], "mass": 63843.0, "length": 580, "protein_name": "Rho guanine nucleotide exchange factor 25", "gene_name": "ARHGEF25", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 25 isoform 3", "refseq_ac": [ { "id": "NP_001104740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104740", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF25; GEFT", "gene_names_refseq": "ARHGEF25; GEFT; p63RhoGEF", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 25; Guanine nucleotide exchange factor GEFT; Rac/Cdc42/Rho exchange factor GEFT; RhoA/Rac/Cdc42 guanine nucleotide exchange factor GEFT; p63RhoGEF", "protein_names_refseq": "RAC/CDC42 exchange factor; Rho guanine nucleotide exchange factor (GEF) 25; RhoA/RAC/CDC42 exchange factor; guanine nucleotide exchange factor GEFT; rac/Cdc42/Rho exchange factor GEFT; rho guanine nucleotide exchange factor 25 isoform 3; rhoA/Rac/Cdc42 guanine nucleotide exchange factor GEFT", "tax_id": 9606, "disease": "epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:115557); (R-HSA-416476); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 7, "publication_count": 357, "publication_id_list": "10037681;10191087;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10567430;10579713;10619026;10699171;10699464;10724160;10727532;10861009;10873388;10873802;10958683;11007481;11015615;11058585;11085924;11149925;11207612;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11742120;11753430;11756552;11773441;11803464;11804587;11804589;11804590;11861769;11884391;11912491;11948177;11961559;12071859;12093360;12096337;12120503;12172552;12195014;12221077;12221096;12351724;12432077;12464619;12473120;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15069594;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15322108;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15632174;15728722;15850391;15858067;15866170;15897194;15944396;15951850;16002401;16112081;16116428;16182515;16184169;16217026;16243036;16268778;16314529;16339447;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16754659;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16923326;16968698;17064668;17077126;17145773;17196961;17198702;17214551;17244649;17562871;17583407;17599059;17606614;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18096806;18158243;18218625;18249095;18347018;18363964;18396277;18426980;18434541;18515384;18577758;18653540;18786931;18802007;18829452;18835169;18838382;18929667;18936096;1905813;19269969;19494238;19605563;19635168;19673492;19713215;19934221;20030946;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21148482;21351730;21373644;21454492;21542010;21565175;21576392;21613211;21685891;21699497;21730051;21757538;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22673745;22734669;22790947;22911862;22970203;22992742;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24584464;24859002;24933155;24960694;24996924;25024229;25211221;25425145;25428919;25673874;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26371245;26435194;26529257;26598554;26887924;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27833100;27986909;28028151;28112683;28114311;28196833;2841328;28584191;28825699;28860633;29089502;29146911;29358323;29382922;29769354;30061681;30429286;30853411;3086311;31105010;31844290;31871319;32203420;33968037;35051231;36215666;36977438;37217939;38225540;7479768;7512369;7559638;7673236;7721814;7753201;7835339;7937899;8021274;8107774;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8664309;8670801;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9111050;9113980;9268338;9305846;9305890;9405671;9418861;9438849;9490638;9497316;9535835;9548756;9582072;9659915;9670022;9770463;9792683;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "A new signaling pathway by which G alpha(q/11)-coupled receptors specifically induce Rho signaling through a direct interaction of activated G alpha(q/11) subunits with p63RhoGEF., [RefSeq, PubMed]; GEFT enhances dendritic spine formation and neurite outgrowth in primary neurons and neuroblastoma cells, respectively, through the activation of Rac/Cdc42-PAK signaling pathways., [RefSeq, PubMed]; Guanine nucleotide exchange factor T exerts the cancer-promoting function in cholangiocarcinoma by enhancing the Wnt-GSK-3beta-beta-catenin cascade via regulation of Rac1/Cdc42., [RefSeq, PubMed]; Lnc-PSMA8-1 activated by GEFT promotes rhabdomyosarcoma progression via upregulation of mTOR expression by sponging miR-144-3p. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in actin cytoskeleton reorganization in different tissues since its activation induces formation of actin stress fibers. It works as a guanine nucleotide exchange factor for Rho family of small GTPases. Links specifically G alpha q/11-coupled receptors to RHOA activation. May be an important regulator of processes involved in axon and dendrite formation. In neurons seems to be an exchange factor primarily for RAC1. Involved in skeletal myogenesis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; P63RhoGEF can rapidly activate RhoA through endogenous G-protein coupled receptors. Publication Status: Online-Only, [RefSeq, PubMed]; P63RhoGEF(619) relocates to the plasma membrane upon activation of Galphaq coupled GPCRs, resembling the well-known activation mechanism of RhoGEFs activated by Galpha12/13. Publication Status: Online-Only, [RefSeq, PubMed]; Results show that p63RhoGEF is a RhoA-specific GEF that may play a key role in actin cytoskeleton reorganization in different tissues, especially in heart cellular morphology., [RefSeq, PubMed]; Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascular smooth muscles, regulation of responses to angiotensin II and lens cell differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 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": 0, "reported_mutagensis": 6, "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": "A6NJH5;A9CQZ6;F8W7Z4;Q8WV84;Q96E63", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030017 sarcomere;GO:0030016 myofibril", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 36.0, "record_id": "Q86VW2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVW1-1", "uniprot_id": [ { "id": "AL17A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVW1", "type": "external" } ], "mass": 19388.0, "length": 177, "protein_name": "Putative ADP-ribosylation factor-like protein 17A", "gene_name": "ARL17A", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 17 isoform a", "refseq_ac": [ { "id": "NP_001034172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034172", "type": "external" } ], "gene_names_uniprotkb": "ARL17A; ARF1P2; ARL17P1; PRO2667", "gene_names_refseq": "ARL17B; ARL17", "protein_names_uniprotkb": "Putative ADP-ribosylation factor-like protein 17A", "protein_names_refseq": "ADP ribosylation factor like GTPase 17B; ADP-ribosylation factor 7; ADP-ribosylation factor-like 17B; ADP-ribosylation factor-like protein 17 isoform a; ADP-ribosylation factor-like protein 17", "tax_id": 9606, "disease": "", "pathway": " (hsa:100506084); (hsa:100996709); (hsa:51326)", "pathway_count": 3, "publication_count": 37, "publication_id_list": "23481700;24397554;24715725;25576301;26154972;26375851;26811146;26992070;27862975;27920218;28228285;28832583;28834231;28904123;29242379;29393594;29557506;29632711;30315122;30779550;31154438;31217245;31844290;31848261;32157095;32350084;32357974;32488085;32938616;33537174;33717175;33912179;33968037;34357683;34932366;35580925;36241641", "class_list": "", "function": "Putative small GTP-binding protein cycling between an inactive GDP-bound and an active GTP-bound form., [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": 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": "B0AZR6;Q59FW5;Q8N6E2;Q8TD73;Q8WW54;Q9NZD5;Q9P158", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q8IVW1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVW6-1", "uniprot_id": [ { "id": "ARI3B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVW6", "type": "external" } ], "mass": 60637.0, "length": 561, "protein_name": "AT-rich interactive domain-containing protein 3B", "gene_name": "ARID3B", "organism": "Human", "refseq_name": "AT-rich interactive domain-containing protein 3B isoform 1", "refseq_ac": [ { "id": "NP_001294868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294868", "type": "external" } ], "gene_names_uniprotkb": "ARID3B; BDP; DRIL2", "gene_names_refseq": "ARID3B; BDP; DRIL2", "protein_names_uniprotkb": "AT-rich interactive domain-containing protein 3B; ARID domain-containing protein 3B; Bright and dead ringer protein; Bright-like protein", "protein_names_refseq": "ARID domain-containing protein 3B; AT rich interactive domain 3B (BRIGHT- like); AT-rich interactive domain-containing protein 3B isoform 1; AT-rich interactive domain-containing protein 3B; Bright-derived protein; bright and dead ringer protein; bright-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:10620)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "10446990;11237011;16951138;17400556;18669648;19690332;19881956;21406692;22661428;23186163;23301498;23481700;24714562;24715725;25576301;26154972;26992070;27503676;27846572;28228285;28446606;28514659;28832583;28855257;28904123;29242379;29351928;29485866;29508533;29557506;29632711;29769354;30315122;30429286;30620550;31092671;31844290;31848261;31937595;32061921;32119511;32157095;32350084;32483441;32502341;32938750;33141586;33142733;33298915;33649863;33912179;34211107;34357683;35051231;35132862;35251023;35254053;35705054;36010968;37541260;38838015;39302247;39531497;40307207;40914422", "class_list": "", "function": "Distinct and overlapping roles of ARID3A and ARID3B in regulating E2Fdependent transcription via direct binding to E2F target genes., [RefSeq, PubMed]; Genotype-Based Gene Expression in Colon Tissue-Prediction Accuracy and Relationship with the Prognosis of Colorectal Cancer Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Harnessing stemness and PD-L1 expression by AT-rich interaction domain-containing protein 3B in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Study provides a comprehensive list of genes and pathways regulated by ARID3A and ARID3B in ovarian cancer cells., [RefSeq, PubMed]; This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA-binding proteins. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer proteins. A pseudogene on chromosome 1p31 exists for this gene. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor which may be involved in neuroblastoma growth and malignant transformation. Favors nuclear targeting of ARID3A., [UniProtKB, PubMed, PubMed]; Transcription factor., [UniProtKB, UniProtKB]; We identify AT-rich interactive domain 3B (ARID3B) as a target of miR-125a and demonstrate that ARID3B is overexpressed in human ovarian cancer, [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": 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": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "O95443;Q59HC9;Q6P9C9", "ec_number_list": [], "go_molecular_function": "GO:0003677 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", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q8IVW6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6M6-1", "uniprot_id": [ { "id": "AMPO_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6M6", "type": "external" } ], "mass": 93572.0, "length": 819, "protein_name": "Aminopeptidase O", "gene_name": "AOPEP", "organism": "Human", "refseq_name": "aminopeptidase O isoform 1", "refseq_ac": [ { "id": "NP_001180258", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180258", "type": "external" } ], "gene_names_uniprotkb": "AOPEP; C9orf3; ONPEP", "gene_names_refseq": "AOPEP; AP-O; APO; C90RF3; C9orf3; DYT31; ONPEP", "protein_names_uniprotkb": "Aminopeptidase O; 3.4.11.-; AP-O", "protein_names_refseq": "aminopeptidase O isoform 1", "tax_id": 9606, "disease": "dystonia 31 (Disease Ontology:DOID:0060938)", "pathway": " (hsa:84909)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;15687497;26024233;28218747;28649982;28832583;29242379;29493099;29557506;30315122;31844290;32938616;32999396;34596301;34680877;35306330;36933031", "class_list": "", "function": "AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism., [RefSeq, PubMed]; Aminopeptidase which catalyzes the hydrolysis of amino acid residues from the N-terminus of peptide or protein substrates., [UniProtKB, UniProtKB]; An association study of C9orf3, a novel component of the renin-angiotensin system, and hypertension in diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement., [RefSeq, PubMed]; Mutation screening of AOPEP variants in a large dystonia cohort., [RefSeq, PubMed]; Suicide Related Phenotypes in a Bipolar Sample: Genetic Underpinnings. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [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": 0, "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": "Q5T9B1;Q5T9B3;Q5T9B4;Q8WUL6;Q96M23;Q96SS1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0070006 metalloaminopeptidase activity", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q8N6M6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8V4-1", "uniprot_id": [ { "id": "ANS4B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8V4", "type": "external" } ], "mass": 46597.0, "length": 417, "protein_name": "Ankyrin repeat and SAM domain-containing protein 4B", "gene_name": "ANKS4B", "organism": "Human", "refseq_name": "ankyrin repeat and SAM domain-containing protein 4B", "refseq_ac": [ { "id": "NP_665872", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_665872", "type": "external" } ], "gene_names_uniprotkb": "ANKS4B; HARP", "gene_names_refseq": "ANKS4B; HARP", "protein_names_uniprotkb": "Ankyrin repeat and SAM domain-containing protein 4B; Harmonin-interacting ankyrin repeat-containing protein; Harp", "protein_names_refseq": "ankyrin repeat and SAM domain-containing protein 4B; harmonin-interacting ankyrin-repeat containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:257629)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "12588794;24275569;26812017;26812018;26992070;27862975;29485866;29557506;29789417;31154438;31644917;32209652;32636301", "class_list": "", "function": "A cryptic sequence targets the adhesion complex scaffold ANKS4B to apical microvilli to promote enterocyte brush border assembly., [RefSeq, PubMed]; Ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B) localizes to the tips of adherent brush border microvilli and is essential for intermicrovillar adhesion, [RefSeq, PubMed]; As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length. Plays a role in assembly of the complex (PubMed:26812018). May play a role in cellular response to endoplasmic reticulum stress (By similarity)., [UniProtKB, UniProtKB, PubMed]; Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0017022 myosin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005903 brush border;GO:0005789 endoplasmic reticulum membrane;GO:0005902 microvillus;GO:0002141 stereocilia ankle link", "go_biological_process": "GO:0030154 cell differentiation;GO:0034976 response to endoplasmic reticulum stress;GO:1904106 protein localization to microvillus;GO:1904970 brush border assembly;GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8N8V4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHP1-1", "uniprot_id": [ { "id": "ARK74_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHP1", "type": "external" } ], "mass": 36970.0, "length": 331, "protein_name": "Aflatoxin B1 aldehyde reductase member 4", "gene_name": "AKR7L", "organism": "Human", "refseq_name": "aflatoxin B1 aldehyde reductase member 4", "refseq_ac": [ { "id": "NP_001335350", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335350", "type": "external" } ], "gene_names_uniprotkb": "AKR7L; AFAR3; AKR7A4", "gene_names_refseq": "AFAR3; AFB1-AR 3; AFB1-AR3; AKR7A4; AKR7L", "protein_names_uniprotkb": "Aflatoxin B1 aldehyde reductase member 4; 1.-.-.-; AFB1 aldehyde reductase 3; AFB1-AR 3; Aldoketoreductase 7-like", "protein_names_refseq": "AFB1 aldehyde reductase 3; aflatoxin B1 aldehyde reductase member 4; aldo-keto reductase family 7 pseudogene; aldo-keto reductase family 7-like; aldoketoreductase 7-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:246181); (R-HSA-5423646)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "11409944;11904223;12144777;12727802;12879023;12933810;1504254;16385575;1643250;16970545;18357469;18416522;19463;23481700;2573352;30379171;32325220;3372534;3931076;7764673;7766804;8439558;8703034;8812420;8975785;9278457;9576847", "class_list": "", "function": "Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent hepatocarcinogen (By similarity)., [UniProtKB]; This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1. The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. It has been speculated that this family member encodes a selenoprotein, which includes a selenocysteine (Sec) residue in lieu of a UGA translational termination codon. However, there is no evidence that such a protein is produced in vivo. The alternative interpretation is that this family member is a segregating pseudogene, where some individuals have an allele that encodes a functional enzyme, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Feb 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q5U614", "ec_number_list": [ { "id": "1.1.1.n11", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.n11", "type": "external" }, { "id": "1.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.2", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" } ], "go_molecular_function": "GO:0008106 alcohol dehydrogenase (NADP+) activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q8NHP1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BWW8-1", "uniprot_id": [ { "id": "APOL6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BWW8", "type": "external" } ], "mass": 38128.0, "length": 343, "protein_name": "Apolipoprotein L6", "gene_name": "APOL6", "organism": "Human", "refseq_name": "apolipoprotein L6", "refseq_ac": [ { "id": "NP_085144", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085144", "type": "external" } ], "gene_names_uniprotkb": "APOL6; PRO21341", "gene_names_refseq": "APOL-VI; APOL6; APOLVI", "protein_names_uniprotkb": "Apolipoprotein L6; ApoL-VI; Apolipoprotein L-VI", "protein_names_refseq": "apolipoprotein L, 6; apolipoprotein L-VI; apolipoprotein L6", "tax_id": 9606, "disease": "kidney disease (Disease Ontology:DOID:557)", "pathway": " (hsa:80830)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "11374903;12975309;21646352;22645359;23481700;23911300;24714562;24715725;25418920;25469497;25576301;25892735;26154972;26375851;26992070;27846572;27920218;28063628;28514659;28832583;29242379;29331515;29393594;29493099;29557506;29632046;29632711;29769354;29786170;30423386;30429286;30833945;31154438;31217245;31611695;31844290;31848261;32139709;32157095;32265295;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33592498;33633747;33912179;33936100;33968037;33981976;34171305;34932366;35051231;35251023;35580925", "class_list": "", "function": "APOL6 has a high ranking for tumor aggressiveness, and interacts with genes in the STAT pathway, and with genes annotated as being part of the defense response, and the interferon signaling pathway. Erratum:[Sci Rep. 2020 Jun 11;10(1):9718. doi: 10.1038/s41598-020-66767-3. PMID: 32528098] Publication Status: Online-Only, [RefSeq, PubMed]; APOL6 has been found only in humans, [RefSeq, PubMed]; High APOL6 expression is associated with obesity and obesity-related cancers., [RefSeq, PubMed]; May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles., [UniProtKB]; Polymorphisms in FABP2 and APOL6, located at the predicted miRNAs binding sites, are identified to contribute to susceptibility to MetS in the Chinese Han population., [RefSeq, PubMed]; Results suggest that ApoL6 regulates both apoptosis and autophagy in SMCs. IFNgamma-initiated, ApoL6-induced apoptosis in vascular cells may be an important factor causing plaque instability, [RefSeq, PubMed]; This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [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": 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": "Q5R3S1;Q658J1;Q8IXX6;Q9UGG1", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016604 nuclear body", "go_biological_process": "GO:0006869 lipid transport;GO:0042157 lipoprotein metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9BWW8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWB6-1", "uniprot_id": [ { "id": "ARGL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWB6", "type": "external" } ], "mass": 33216.0, "length": 273, "protein_name": "Arginine and glutamate-rich protein 1", "gene_name": "ARGLU1", "organism": "Human", "refseq_name": "arginine and glutamate-rich protein 1", "refseq_ac": [ { "id": "NP_060481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060481", "type": "external" } ], "gene_names_uniprotkb": "ARGLU1", "gene_names_refseq": "ARGLU1", "protein_names_uniprotkb": "Arginine and glutamate-rich protein 1", "protein_names_refseq": "arginine and glutamate-rich protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55082)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "15302935;17081983;18452278;18669648;18767875;19651622;20058876;20068231;20230923;21406692;21454576;23186163;24275569;25576301;26992070;27846572;27899669;27920218;28832583;28904123;29237092;29242379;29393594;29557506;30698747;31844290;31848261;31998317;32157095;32350084;32387766;32938616;33592498;34157484;34405274;34509645;35051231;35580925;36533631;37217939;38520408;38665916;40596516", "class_list": "", "function": "ARGLU1 enhances promoter-proximal pausing of RNA polymerase II and stimulates DNA damage repair., [RefSeq, PubMed]; Distinct biogenesis pathways may have led to functional divergence of the human and Drosophila Arglu1 sisRNA., [RefSeq, PubMed]; Dual function regulator of gene expression; regulator of transcription and modulator of alternative splicing (PubMed:30698747). General coactivator of nuclear receptor-induced gene expression, including genes activated by the glucocorticoid receptor NR3C1 (PubMed:30698747). Binds to a subset of pre-mRNAs and to components of the spliceosome machinery to directly modulate basal alternative splicing; involved in simple and complex cassette exon splicing events (PubMed:30698747). Binds its own pre-mRNA and regulates its alternative splicing and degradation; one of the alternatively spliced products is a stable intronic sequence RNA (sisRNA) that binds the protein to regulate its ability to affect splicing (PubMed:27899669, PubMed:36533631). Binding of the sisRNA stimulates phase separation and localization to nuclear speckles, which may contribute to activation of nuclear receptor-induced gene expression (PubMed:36533631). May also indirectly modulate alternative splicing (PubMed:30698747). Regulates transcription of genes involved in heart development, neuronal cell function, protein localization and chromatin localization (By similarity). Regulates splicing of genes involved in neurogenesis and chromatin organization (By similarity). Essential for central nervous system development (By similarity). Required for the estrogen-dependent expression of ESR1 target genes (PubMed:21454576). Can act in cooperation with MED1 (PubMed:21454576)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Establish ARGLU1 as a new MED1-interacting protein required for estrogen-dependent gene transcription and breast cancer cell growth., [RefSeq, PubMed]; Identification of ARGLU1 as a potential therapeutic target for gastric cancer based on genome-wide functional screening data., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "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": "B4E0Y3;Q5T257;Q6IQ34", "ec_number_list": [], "go_molecular_function": "GO:0036002 pre-mRNA binding;GO:0003713 transcription coactivator activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0016607 nuclear speck;GO:0005694 chromosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0000381 regulation of alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9NWB6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXL2-2", "uniprot_id": [ { "id": "ARH38_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXL2", "type": "external" } ], "mass": 89078.0, "length": 777, "protein_name": "Rho guanine nucleotide exchange factor 38", "gene_name": "ARHGEF38", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 38 isoform 1", "refseq_ac": [ { "id": "NP_001229658", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229658", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF38", "gene_names_refseq": "ARHGEF38", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 38", "protein_names_refseq": "Rho guanine nucleotide exchange factor (GEF) 38; rho guanine nucleotide exchange factor 38 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54848); (R-HSA-193648); (R-HSA-416482)", "pathway_count": 3, "publication_count": 43, "publication_id_list": "11283606;11294240;11313914;11742120;11756498;12097334;12101119;12123608;12433842;12515866;14673001;15470142;15699075;15749160;15951850;16212495;16923326;16959974;18374420;18519826;18577758;19212140;19911011;20332099;22661716;25414122;27072905;29393594;29557506;30007591;31844290;32938616;33592498;35051231;35580925;36493769;39894887;7937899;8617235;8816443;9308960;9520479;9796816", "class_list": "", "function": "Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes., [RefSeq, PubMed]; May act as a guanine-nucleotide releasing factor., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Hum Mol Genet. 2010 Oct 15;19(20):4121. Hesselbrock, Victor [added]; Tischfield, Jay A [added]], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9JIB4", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9NXL2-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJ72-1", "uniprot_id": [ { "id": "ANX10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJ72", "type": "external" } ], "mass": 37278.0, "length": 324, "protein_name": "Annexin A10", "gene_name": "ANXA10", "organism": "Human", "refseq_name": "annexin A10", "refseq_ac": [ { "id": "NP_009124", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009124", "type": "external" } ], "gene_names_uniprotkb": "ANXA10; ANX14", "gene_names_refseq": "ANX14; ANXA10", "protein_names_uniprotkb": "Annexin A10; Annexin-10; Annexin-14", "protein_names_refseq": "annexin 14; annexin A10; annexin-10", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:11199)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10458909;19582876;25576301;29242379;32983136;33592498;35780773;36241641;36265396;36451051;36709331;36730833", "class_list": "", "function": "ANXA10 Expression Is Inversely Associated with Tumor Stage, Grade, and TP53 Expression in Upper and Lower Urothelial Carcinoma., [RefSeq, PubMed]; ANXA10 is a prognostic biomarker and suppressor of hepatocellular carcinoma: a bioinformatics analysis and experimental validation. Publication Status: Online-Only, [RefSeq, PubMed]; GATA6 regulates expression of annexin A10 (ANXA10) associated with epithelial-mesenchymal transition of oral squamous cell carcinoma., [RefSeq, PubMed]; Reduced expression and homozygous deletion of annexin A10 is associated with gastric carcinoma., [RefSeq, PubMed]; SOX2-Induced Linc-ROR Upregulation Inhibits Gastric Carcinoma Cell Proliferation and Metastasis Via the miR-580-3p/ANXA10 Pathway., [RefSeq, PubMed]; Strong Annexin A10 Expression Supports a Pancreatic Primary and Combined Annexin A10, Claudin 18, and SOX2 Expression Supports an Esophagogastric Origin in Carcinomas of Unknown Primary., [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. The function of this gene has not yet 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": 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": "Q96IQ5;Q9UJV4", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005544 calcium-dependent phospholipid binding;GO:0001786 phosphatidylserine binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0012506 vesicle membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9UJ72-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKU9-1", "uniprot_id": [ { "id": "ANGL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKU9", "type": "external" } ], "mass": 57104.0, "length": 493, "protein_name": "Angiopoietin-related protein 2", "gene_name": "ANGPTL2", "organism": "Human", "refseq_name": "angiopoietin-related protein 2 precursor", "refseq_ac": [ { "id": "NP_036230", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036230", "type": "external" } ], "gene_names_uniprotkb": "ANGPTL2; ARP2; PRO196", "gene_names_refseq": "ANGPTL2; ARP2; HARP", "protein_names_uniprotkb": "Angiopoietin-related protein 2; Angiopoietin-like protein 2", "protein_names_refseq": "angiopoietin-like protein 2; angiopoietin-related protein 2 precursor; angiopoietin-related protein 2", "tax_id": 9606, "disease": "dermatomyositis (Disease Ontology:DOID:10223)", "pathway": " (hsa:23452)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "10.1038/emboj.2013.79;10473614;12975309;17347581;23584533;27726376;28855257;28904123;29741879;30429286;30459171;30779550;31154438;31844290;31848261;32157095;32983136;33508120;33592498;33968037;34000514;34185709;34709660;34830112;35051231;35561310;35580925;36917086;37074911", "class_list": "", "function": "ANGPTL2 promotes VEGF-A synthesis in human lung cancer and facilitates lymphangiogenesis., [RefSeq, PubMed]; Angiopoietin-like protein 2 decreases peritoneal metastasis of ovarian cancer cells by suppressing anoikis resistance., [RefSeq, PubMed]; Angiopoietin-like protein 2 deficiency promotes periodontal inflammation and alveolar bone loss., [RefSeq, PubMed]; Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. ANGPTL2 protein is a secreted glycoprotein with homology to the angiopoietins and may exert a function on endothelial cells through autocrine or paracrine action. [provided by RefSeq, Jul 2008]., [RefSeq]; Angptl2 is a Marker of Cellular Senescence: The Physiological and Pathophysiological Impact of Angptl2-Related Senescence. Review article Publication Status: Online-Only, [RefSeq, PubMed]; CSN5 Promotes Carcinogenesis of Thyroid Carcinoma Cells Through ANGPTL2., [RefSeq, PubMed]; Induces sprouting in endothelial cells through an autocrine and paracrine action., [UniProtKB]; The upregulation of ANGPTL2 in diabetic glomerulopathy shows a close relationship to abnormal microvasculature and endothelial inflammation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 54, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q5JT58;Q8NCH7", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0007596 blood coagulation", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q9UKU9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y264-1", "uniprot_id": [ { "id": "ANGP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y264", "type": "external" } ], "mass": 56849.0, "length": 503, "protein_name": "Angiopoietin-4", "gene_name": "ANGPT4", "organism": "Human", "refseq_name": "angiopoietin-4 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001309738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309738", "type": "external" } ], "gene_names_uniprotkb": "ANGPT4; ANG3; ANG4", "gene_names_refseq": "ANG3; ANG4; ANGPT4", "protein_names_uniprotkb": "Angiopoietin-4; ANG-3; ANG-4; Angiopoietin-3", "protein_names_refseq": "angiopoietin-4 isoform 2 precursor", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:51378); (R-HSA-210993)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "10051567;10218486;10521483;11191051;11447223;11566266;11607834;11689432;11969368;14665640;14749497;15284220;15893672;16895971;19234476;21603628;22267746;24760148;25977256;29557506;30429286;30957437;31844290;32387766;32938616;34509645;35051231;35494241;7478529;8980223;9632797;9690470;9764820", "class_list": "", "function": "Acute-phase protein A1AT is a physiological regulator of angptl4, another acute-phase protein., [RefSeq, PubMed]; Ang-4 also promoted survival of LECs. Thus, blocking Ang-4 may prune the draining lymphatic vasculature and decrease interstitial fluid pressure (IFP) by reducing vascular permeability., [RefSeq, PubMed]; Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The mechanism by which they contribute to angiogenesis is thought to involve regulation of endothelial cell interactions with supporting perivascular cells. The protein encoded by this gene functions as an agonist and is an angiopoietin. [provided by RefSeq, Jul 2008]., [RefSeq]; Angptl4 is a glucocorticoid-responsive mediator of fasting-induced intracellular lipolysis and stimulates cAMP signaling in adipocytes Erratum:[J Biol Chem. 2017 Sep 29;292(39):16135. doi: 10.1074/jbc.A111.294124. PMID: 28963337], [RefSeq, PubMed]; Binds to TEK/TIE2, modulating ANGPT1 signaling. Can induce tyrosine phosphorylation of TEK/TIE2. Promotes endothelial cell survival, migration and angiogenesis., [UniProtKB, PubMed]; Dual functional nanoparticles containing SOX duo and ANGPT4 shRNA for osteoarthritis treatment., [RefSeq, PubMed]; In tumor cells, only Ang-4 expression has prognostic impact in NSCLC. In NSCLC tumor stroma, Ang-4 and Ang-2 are independently associated with survival., [RefSeq, PubMed]", "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 40, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B4E3J9;Q5TFF4;Q9H4Z4", "ec_number_list": [], "go_molecular_function": "GO:0030971 receptor tyrosine kinase binding;GO:0030297 transmembrane receptor protein tyrosine kinase activator activity;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix", "go_biological_process": "GO:0001525 angiogenesis;GO:0007165 signal transduction;GO:0043066 negative regulation of apoptotic process;GO:0007596 blood coagulation;GO:0010595 positive regulation of endothelial cell migration", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9Y264-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5C1-1", "uniprot_id": [ { "id": "ANGL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5C1", "type": "external" } ], "mass": 53637.0, "length": 460, "protein_name": "Angiopoietin-related protein 3", "gene_name": "ANGPTL3", "organism": "Human", "refseq_name": "angiopoietin-related protein 3 preproprotein", "refseq_ac": [ { "id": "NP_055310", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055310", "type": "external" } ], "gene_names_uniprotkb": "ANGPTL3; ANGPT5; PRO179", "gene_names_refseq": "ANG-5; ANGPT5; ANGPTL3; ANL3; FHBL2", "protein_names_uniprotkb": "Angiopoietin-related protein 3; ANG-5; Angiopoietin-5; Angiopoietin-like protein 3", "protein_names_refseq": "angiopoietin 5; angiopoietin-related protein 3 preproprotein; angiopoietin-related protein 3", "tax_id": 9606, "disease": "familial hypobetalipoproteinemia 2 (Disease Ontology:DOID:0111061)", "pathway": " (hsa:27329); (R-HSA-8963889); (R-HSA-9029558)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10644446;10900462;11287605;11414710;11788823;11790787;11877390;12097324;12518032;12565906;12909640;12975309;1301939;15284087;15340161;15800215;16109723;16335952;17088546;17110602;17191020;17684114;17883852;17994020;17997385;18535744;19028676;19075393;19159218;19304573;19318355;19361614;19542565;19824718;20356926;20581395;20837471;20942659;21666694;21719679;21844202;22095935;22262056;22566642;22569073;22740495;23020258;23090970;23150577;23661675;24190977;24397894;24715725;24909692;24960069;25387803;25495645;25710887;25733326;26204133;26811146;26933753;26934567;26934667;29351928;29557506;29713054;29741879;30237853;30459171;35051231;37074911;38425231;38462608;38634215;7592670;8020465;8402897;8485124;9136889;9379936", "class_list": "", "function": "ANGPTL3 activation is modulated by O-glycosylation and the proprotein undergoes convertase processing for activation., [RefSeq, PubMed]; ANGPTL3 is a novel HDL component that regulates HDL function. Publication Status: Online-Only, [RefSeq, PubMed]; ANGPTL3 stimulates endothelial cell adhesion and migration via integrin alpha vbeta 3 and induces blood vessel formation in vivo GeneRIF: ANGPTL3 is the first member of the angiopoietin-like family of secreted factors binding to integrin alpha(v)beta(3), which suggests a possible role in the regulation of angiogenesis., [RefSeq, PubMed]; Acts in part as a hepatokine that is involved in regulation of lipid and glucose metabolism (PubMed:11788823, PubMed:12909640, PubMed:23661675, PubMed:25495645). Proposed to play a role in the trafficking of energy substrates to either storage or oxidative tissues in response to food intake (By similarity). Has a stimulatory effect on plasma triglycerides (TG), which is achieved by suppressing plasma TG clearance via inhibition of LPL activity. The inhibition of LPL activity appears to be an indirect mechanism involving recruitment of proprotein convertases PCSK6 and FURIN to LPL leading to cleavage and dissociation of LPL from the cell surface; the function does not require ANGPTL3 proteolytic cleavage but seems to be mediated by the N-terminal domain, and is not inhibited by GPIHBP1 (PubMed:12097324, PubMed:19318355, PubMed:20581395). Can inhibit endothelial lipase, causing increased plasma levels of high density lipoprotein (HDL) cholesterol and phospholipids (PubMed:17110602, PubMed:19028676). Can bind to adipocytes to activate lipolysis, releasing free fatty acids and glycerol (PubMed:12565906). Suppresses LPL specifically in oxidative tissues which is required to route very low density lipoprotein (VLDL)-TG to white adipose tissue (WAT) for storage in response to food; the function may involve cooperation with circulating, liver-derived ANGPTL8 and ANGPTL4 expression in WAT (By similarity). Contributes to lower plasma levels of low density lipoprotein (LDL)-cholesterol by a mechanism that is independent of the canonical pathway implicating APOE and LDLR. May stimulate hypothalamic LPL activity (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Angptl3 gene is a direct target of the liver X receptor (LXR)., [RefSeq, PubMed]; Association of a genetic variant in angiopoietin-like 3 with serum HDL-C and risk of cardiovascular disease: A study of the MASHAD cohort over 6 years., [RefSeq, PubMed]; Correlation between the serum FABP4, ANGPTL3, and ANGPTL4 levels and coronary artery disease., [RefSeq, PubMed]; In vitro inhibits LPL activity; not effective on GPIHBP1-stabilized LPL., [UniProtKB, PubMed]; Involved in angiogenesis. Binds to endothelial cells via integrin alpha-V/beta-3 (ITGAV:ITGB3), activates FAK, MAPK and Akt signaling pathways and induces cell adhesion and cell migration (PubMed:11877390). Secreted from podocytes, may modulate properties of glomerular endothelial cells involving integrin alpha-V/beta-3 and Akt signaling (PubMed:18535744). May increase the motility of podocytes. May induce actin filament rearrangements in podocytes implicating integrin alpha-V/beta-3 and Rac1 activation. Binds to hematopoietic stem cells (HSC) and is involved in the regulation of HSC activity probably implicating down-regulation of IKZF1/IKAROS (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; The cleavage of ANGPTL3 at two sites is important for the activation of ANGPTL3 in vivo, [RefSeq, PubMed]; This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fibrinogen chain. The N-terminal chain is important for lipid metabolism, while the C-terminal chain may be involved in angiogenesis. Mutations in this gene cause familial hypobetalipoproteinemia type 2. [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": 3, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 3, "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": 8, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 16, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A0JLS0;B1ALJ0;B2RCW1", "ec_number_list": [], "go_molecular_function": "GO:0004857 enzyme inhibitor activity;GO:0005178 integrin binding;GO:0008201 heparin binding;GO:0055102 lipase inhibitor activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0009986 cell surface", "go_biological_process": "GO:0001525 angiogenesis;GO:0006631 fatty acid metabolic process;GO:0007165 signal transduction;GO:0007229 integrin-mediated signaling pathway;GO:0008203 cholesterol metabolic process", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q9Y5C1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20933-1", "uniprot_id": [ { "id": "ASPG_HUMAN", "url": "https://www.uniprot.org/uniprot/P20933", "type": "external" } ], "mass": 37208.0, "length": 346, "protein_name": "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase", "gene_name": "AGA", "organism": "Human", "refseq_name": "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_000018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000018", "type": "external" } ], "gene_names_uniprotkb": "AGA", "gene_names_refseq": "AGA; AGU; ASRG; GA", "protein_names_uniprotkb": "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase; 3.5.1.26; Aspartylglucosaminidase; Glycosylasparaginase; N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase", "protein_names_refseq": "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform 1 preproprotein; N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase; N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase; aspartylglucosylamine deaspartylase; glycosylasparaginase", "tax_id": 9606, "disease": "aspartylglucosaminuria (Disease Ontology:DOID:0050461); lysosomal storage disease (Disease Ontology:DOID:3211)", "pathway": " (hsa:175); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;11309371;1281977;1301945;14616088;1703489;1722323;1765378;1840528;1904874;2011603;23090970;23650620;2401370;24190977;25502872;25813380;2811876;28467828;29242379;29741879;30573663;32350084;32387766;32502341;33912179;33936100;34078123;34357683;34433824;35051231;35154160;35251023;35289036;36010968;37074911;7627186;8638940;8692836;8776587;8846222;9137882", "class_list": "glycogene", "function": "Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins., [UniProtKB, PubMed, PubMed, PubMed]; Molecular mechanism for the autoproteolytic activation of aspartylglucosaminidase., [RefSeq, PubMed]; This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [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": 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": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 531, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2R7H2;D3DP47;Q4W5Q2;Q6FHN6;Q9UCK6;Q9UCK7;Q9UCK8", "ec_number_list": [ { "id": "4.6.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.19", "type": "external" }, { "id": "3.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.24", "type": "external" }, { "id": "1.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.11.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.2.2", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.22", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.2.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.52", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "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": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "3.5.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.26", "type": "external" }, { "id": "3.4.21.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.76", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.1.6.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.4", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "6.3.4.21", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.21", "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": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "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" }, { "id": "3.5.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.4", "type": "external" }, { "id": "3.4.14.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.2", "type": "external" }, { "id": "3.5.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.15", "type": "external" } ], "go_molecular_function": "GO:0008233 peptidase activity;GO:0003948 N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity;GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005764 lysosome", "go_biological_process": "GO:0006508 proteolysis;GO:0006517 protein deglycosylation", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "P20933-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100000000.110.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60306-1", "uniprot_id": [ { "id": "AQR_HUMAN", "url": "https://www.uniprot.org/uniprot/O60306", "type": "external" } ], "mass": 171295.0, "length": 1485, "protein_name": "RNA helicase aquarius", "gene_name": "AQR", "organism": "Human", "refseq_name": "RNA helicase aquarius", "refseq_ac": [ { "id": "NP_055506", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055506", "type": "external" } ], "gene_names_uniprotkb": "AQR; KIAA0560", "gene_names_refseq": "AQR; IBP160; fSAP164", "protein_names_uniprotkb": "RNA helicase aquarius; 3.6.4.13; IBP160; Intron-binding protein of 160 kDa", "protein_names_refseq": "RNA helicase aquarius; aquarius homolog; functional spliceosome-associated protein 164; intron-binding protein aquarius; intron-binding protein of 160 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:9716); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-72163); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 239, "publication_id_list": "10882114;10944529;11014198;11101529;11233976;11237011;11747608;11904382;11991638;12176931;12208738;12411573;12414731;12477934;12660172;12732143;14517266;14519844;14625303;14713954;14762106;15084397;15590680;16246722;16314458;16751180;16809785;16949364;17000769;17095540;17290000;17332742;17466625;17466626;17606899;17948053;17981804;18079701;18160138;18322460;18593880;18614043;19103666;19165350;19279666;19536130;19608861;19940136;20068231;20112406;20227374;20423332;20541997;20588308;20980672;21070792;21282463;21536652;2176635;21911577;22081108;22110043;22118460;22365833;22466610;22466611;22466612;22645359;22902626;22959432;22961380;23222130;23236153;23301498;23345524;23481700;23906714;23973375;24127601;24196718;24304693;24366607;24402227;24448447;24714562;24715725;24737827;24914973;25154395;25418920;25435140;25505266;25555158;25576301;2558966;25599396;25645385;25880248;25892735;26092250;26154972;26385511;26420826;26728094;26768311;26811146;26929215;26969736;26992070;27108190;27377154;27459055;27600516;27683217;27846572;27862975;27920218;28062851;28063628;28076346;28218747;28228285;28446606;28502770;28781166;28832583;28834231;28855257;28904123;29242379;29301961;29351928;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632046;29632711;2963332;29769354;29786170;29902443;30315122;30315277;30410026;30429286;30484775;30524438;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31092671;31154438;31217245;31222486;31409651;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32179686;32265295;32329775;32355176;32357974;32387766;32488085;32494006;32502341;32897882;32938616;32983136;33123756;33141586;33177556;33243851;33298915;33392160;33446560;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34301950;34405274;34509645;34561969;34822310;34932366;35051231;35215846;35318648;35385551;35561310;35580925;36010968;36215666;36241641;36284347;36581221;3757028;37938771;40596516;7700386;8078911;8566756;8608946;8876179;9016565;9242493;9326587;9512519;9524131;9539711;9671485;9699634;9701291;9716411;9731529;9875289", "class_list": "", "function": "Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:25599396, PubMed:28076346, PubMed:28502770). Intron-binding spliceosomal protein required to link pre-mRNA splicing and snoRNP (small nucleolar ribonucleoprotein) biogenesis (PubMed:16949364). Plays a key role in position-dependent assembly of intron-encoded box C/D small snoRNP, splicing being required for snoRNP assembly (PubMed:16949364). May act by helping the folding of the snoRNA sequence. Binds to intron of pre-mRNAs in a sequence-independent manner, contacting the region between snoRNA and the branchpoint of introns (40 nucleotides upstream of the branchpoint) during the late stages of splicing (PubMed:16949364). Has ATP-dependent RNA helicase activity and can unwind double-stranded RNA molecules with a 3' overhang (in vitro) (PubMed:25599396)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, 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": 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": 2, "reported_glycation": 0, "reported_snv": 35, "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": "A0JP17;A5YKK3;Q2YDX9;Q6IRU8;Q6PIC8", "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": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "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": "3.1.11.-", "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": "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": "2.7.11.22", "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": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "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": "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": "2.7.11.1", "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": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "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": "3.1.27.-", "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:0003723 RNA binding;GO:0003729 mRNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003727 single-stranded RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0071013 catalytic step 2 spliceosome;GO:0071007 U2-type catalytic step 2 spliceosome", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 24.3, "record_id": "O60306-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15085-1", "uniprot_id": [ { "id": "ARHGB_HUMAN", "url": "https://www.uniprot.org/uniprot/O15085", "type": "external" } ], "mass": 167704.0, "length": 1522, "protein_name": "Rho guanine nucleotide exchange factor 11", "gene_name": "ARHGEF11", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 11 isoform 1", "refseq_ac": [ { "id": "NP_055599", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055599", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF11; KIAA0380", "gene_names_refseq": "ARHGEF11; GTRAP48; PDZ-RHOGEF", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 11; PDZ-RhoGEF", "protein_names_refseq": "Rho guanine exchange factor (GEF) 11; Rho guanine nucleotide exchange factor (GEF) 11; RhoA-specific guanine nucleotide exchange factor; RhoGEF glutamate transport modulator; glutamate transporter EAAT4-associated protein 48; rho guanine nucleotide exchange factor 11 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9826); (R-HSA-193648); (R-HSA-416482); (R-HSA-416572); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 9, "publication_count": 408, "publication_id_list": 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"class_list": "", "function": "ARHGEF11 promotes proliferation and epithelial-mesenchymal transition of hepatocellular carcinoma through activation of beta-catenin pathway., [RefSeq, PubMed]; Galphas directly drives PDZ-RhoGEF signaling to Cdc42., [RefSeq, PubMed]; May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13. Involved in neurotrophin-induced neurite outgrowth., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; 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 a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. [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": 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": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "D3DVD0;Q5VY40;Q6PFW2", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0001664 G protein-coupled receptor binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0030036 actin cytoskeleton organization;GO:0007266 Rho protein signal transduction;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 41.4, "record_id": "O15085-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O76027-1", "uniprot_id": [ { "id": "ANXA9_HUMAN", "url": "https://www.uniprot.org/uniprot/O76027", "type": "external" } ], "mass": 38364.0, "length": 345, "protein_name": "Annexin A9", "gene_name": "ANXA9", "organism": "Human", "refseq_name": "annexin A9", "refseq_ac": [ { "id": "NP_003559", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003559", "type": "external" } ], "gene_names_uniprotkb": "ANXA9; ANX31", "gene_names_refseq": "ANX31; ANXA9", "protein_names_uniprotkb": "Annexin A9; Annexin XXXI; Annexin-31; Annexin-9; Pemphaxin", "protein_names_refseq": "annexin 31; annexin A9; annexin XXXI; annexin-9; pemphaxin", "tax_id": 9606, "disease": "", "pathway": " (hsa:8416)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10899159;12832069;20068231;24715725;26992070;27600516;28832583;29242379;29786170;30379171;32897882;32938616;33680718;34087483;34211107;34587407;35051231;38609357;38777329;9742942", "class_list": "glycogene", "function": "ANXA9 facilitates S100A4 and promotes breast cancer progression through modulating STAT3 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Examination of atypical properties, [RefSeq, PubMed]; High Expression of Annexin A9 Promotes Cell Proliferation and Migration in Gastric Cancer via the TGF-beta Signaling Pathway., [RefSeq, PubMed]; Hsa-miR-105-1 Regulates Cisplatin-Resistance in Ovarian Carcinoma Cells by Targeting ANXA9. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of sulfotransferase 2B1 suppresses cell migration, invasion and promotes apoptosis in ovarian carcinoma cells via targeting annexin A9., [RefSeq, PubMed]; Plays a role in epidermal differentiation (PubMed:10899159). Can bind acetylcholine (PubMed:10899159)., [UniProtKB, PubMed]; The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to aggregate and cooperatively bind anionic phospholipids and extracellular matrix proteins. This gene encodes a divergent member of the annexin protein family in which all four homologous type II calcium-binding sites in the conserved tetrad core contain amino acid substitutions that ablate their function. However, structural analysis suggests that the conserved putative ion channel formed by the tetrad core is intact. [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": 434, "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": "Q5SZF1;Q6FI55;Q9BS00;Q9HBJ6", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0015464 acetylcholine receptor activity;GO:0005509 calcium ion binding;GO:0005544 calcium-dependent phospholipid binding;GO:0001786 phosphatidylserine binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0007155 cell adhesion;GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "O76027-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O76081-1", "uniprot_id": [ { "id": "RGS20_HUMAN", "url": "https://www.uniprot.org/uniprot/O76081", "type": "external" } ], "mass": 43692.0, "length": 388, "protein_name": "Regulator of G protein signaling 20", "gene_name": "RGS20", "organism": "Human", "refseq_name": "regulator of G-protein signaling 20 isoform c", "refseq_ac": [ { "id": "NP_001273602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273602", "type": "external" } ], "gene_names_uniprotkb": "RGS20; RGSZ1; ZGAP1", "gene_names_refseq": "RGS20; RGSZ1; ZGAP1; g(z)GAP; gz-GAP", "protein_names_uniprotkb": "Regulator of G protein signaling 20; G(z)GAP; Gz-GAP; Gz-selective GTPase-activating protein; RGS20; Regulator of G protein signaling Z1; Regulator of Gz-selective protein signaling 1", "protein_names_refseq": "gz-selective GTPase-activating protein; regulator of G-protein signaling 20 isoform c; regulator of G-protein signaling Z1; regulator of G-protein signalling 20; regulator of Gz-selective protein signaling 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8601); (R-HSA-418594); (R-HSA-418597)", "pathway_count": 3, "publication_count": 41, "publication_id_list": "10954748;11007482;11237011;11313909;11735229;12120503;12379657;1347957;15951850;16634148;16923326;18434541;18577758;18578522;1939224;2534964;25645385;26992070;2748346;27600516;27846572;28063628;2834384;28502923;28832583;29242379;29557506;31212130;31217245;31844290;32157095;32350084;35051231;36215666;7559455;7595566;7937899;8015379;8406495;9748279;9748280", "class_list": "", "function": "Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds selectively to G(z)-alpha and G(alpha)-i2 subunits, accelerates their GTPase activity and regulates their signaling activities. The G(z)-alpha activity is inhibited by the phosphorylation and palmitoylation of the G protein. Negatively regulates mu-opioid receptor-mediated activation of the G proteins (By similarity)., [UniProtKB, PubMed]; RGS20 acted as an oncogene in bladder cancer., [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of regulator of G protein signaling (RGS) proteins, which are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins inhibit signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound forms. This protein selectively binds to G(z)-alpha and G(alpha)-i2 subunits, and regulates their signaling activities. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [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": 1, "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": "Q96BG9", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009898 cytoplasmic side of plasma membrane;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0045744 negative regulation of G protein-coupled receptor signaling pathway;GO:0008277 regulation of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "O76081-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18846-1", "uniprot_id": [ { "id": "ATF1_HUMAN", "url": "https://www.uniprot.org/uniprot/P18846", "type": "external" } ], "mass": 29233.0, "length": 271, "protein_name": "Cyclic AMP-dependent transcription factor ATF-1", "gene_name": "ATF1", "organism": "Human", "refseq_name": "cyclic AMP-dependent transcription factor ATF-1 isoform c", "refseq_ac": [ { "id": "NP_005162", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005162", "type": "external" } ], "gene_names_uniprotkb": "ATF1", "gene_names_refseq": "ATF1; EWS-ATF1; FUS/ATF-1; TREB36", "protein_names_uniprotkb": "Cyclic AMP-dependent transcription factor ATF-1; Activating transcription factor 1; Protein TREB36; cAMP-dependent transcription factor ATF-1", "protein_names_refseq": "cAMP-dependent transcription factor ATF-1; cyclic AMP-dependent transcription factor ATF-1 isoform c; cyclic AMP-dependent transcription factor ATF-1", "tax_id": 9606, "disease": "polycystic kidney disease (Disease Ontology:DOID:0080322); alcohol use disorder (Disease Ontology:DOID:1574); histiocytoma, Angiomatoid fibrous (MONDO:MONDO:0012809)", "pathway": " (hsa:466); (R-HSA-199920); (R-HSA-9031628)", "pathway_count": 3, "publication_count": 220, "publication_id_list": "10.1101/2023.09.13.557529;10203854;10381005;10611221;10611312;10656257;10734128;10826704;10872467;10882540;10984481;11018254;11027551;11063792;11237011;11280768;11331872;11343657;11567222;11755530;11840323;11909979;11956230;12399542;12414794;12511643;1377233;14522948;14597720;14969744;15102911;15161978;15327282;15449318;15542842;15620361;1570299;15733869;15836632;15880109;15884099;16034366;16136673;16187211;16221685;16260776;16287845;16339507;16407550;16484497;1655749;16574654;16732277;17088210;17088211;17088212;17632064;17898216;18056528;18088355;18160048;1833716;18452278;18456662;18524893;1861162;18669648;18690222;18794154;19061646;19116276;19193899;19194657;19369332;19690332;19926875;20068230;20068231;2017159;2040600;20506119;2052361;2072895;20730097;20980392;21057636;2109185;21098035;21326363;21486943;21621608;2196176;22053691;22065583;22302795;2237820;22544926;23186163;23220124;23301498;23481700;24060757;24715725;2516827;25248477;25569790;25645385;25748042;26018600;2676516;26992070;27041596;27128622;27220739;28032861;28076410;28228285;28275114;28286024;28514659;28832583;28904123;29242379;29351928;29485866;29508533;29559111;29983246;30315122;30379171;30410026;30429286;30620550;3127059;31492838;31844290;31998317;32157095;32161166;32357974;32387766;32574038;32897882;32938616;32938750;33141586;33214551;33298915;33392160;33592498;33912179;33936100;33968037;34019948;34087483;34211107;34509645;35051231;35132862;35254053;35289036;35397606;35513511;35561310;35705054;36010968;36154610;36240223;3672127;36860287;37158648;37340703;37938771;38531792;38665916;38838015;39302247;39531497;39534244;40307207;40596516;7551568;7592934;7595538;7608156;7624335;7777577;7823924;7857651;7871435;7876254;7923378;8090221;8090222;8248782;8413279;8483478;8576248;8583621;8600455;8621702;8663317;8668170;8756618;8846918;8918830;9016641;9032251;9084409;9343422;9390517;9418898;9622090;9685505;9722618;9770464;9774344;9808461;9822744;9858769", "class_list": "", "function": "ATF1 Restricts Human Herpesvirus 6A Replication via Beta Interferon Induction., [RefSeq, PubMed]; ATF1 promotes the malignancy of lung adenocarcinoma cells by transcriptionally regulating ZNF143 expression., [RefSeq, PubMed]; BRCA1/ATF1-Mediated Transactivation is Involved in Resistance to PARP Inhibitors and Cisplatin. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an activating transcription factor, which belongs to the ATF subfamily and bZIP (basic-region leucine zipper) family. It influences cellular physiologic processes by regulating the expression of downstream target genes, which are related to growth, survival, and other cellular activities. This protein is phosphorylated at serine 63 in its kinase-inducible domain by serine/threonine kinases, cAMP-dependent protein kinase A, calmodulin-dependent protein kinase I/II, mitogen- and stress-activated protein kinase and cyclin-dependent kinase 3 (cdk-3). Its phosphorylation enhances its transactivation and transcriptional activities, and enhances cell transformation. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in angiomatoid fibrous histiocytoma and clear cell sarcoma. This gene has a pseudogene on chromosome 6. [provided by RefSeq, Aug 2010]., [RefSeq]; This protein binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3'), a sequence present in many viral and cellular promoters. Binds to the Tax-responsive element (TRE) of HTLV-I. Mediates PKA-induced stimulation of CRE-reporter genes. Represses the expression of FTH1 and other antioxidant detoxification genes. Triggers cell proliferation and transformation., [UniProtKB, PubMed, PubMed]; Upregulated ATF1 Promotes Lipopolysaccharide Induced Inflammatory Response and Inhibits Osteogenic Differentiation of Human Periodontal Ligament Cells by Regulating NF-kappaB 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": 1, "reported_o_glycosites_with_glycan": 15, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 15, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 15, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "B4DRF9;P25168;Q9H4A8", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:1990590 ATF1-ATF4 transcription factor complex;GO:1990589 ATF4-CREB1 transcription factor complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010976 positive regulation of neuron projection development;GO:0014074 response to purine-containing compound;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 24.0, "record_id": "P18846-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26436-1", "uniprot_id": [ { "id": "ASPX_HUMAN", "url": "https://www.uniprot.org/uniprot/P26436", "type": "external" } ], "mass": 28156.0, "length": 265, "protein_name": "Acrosomal protein SP-10", "gene_name": "ACRV1", "organism": "Human", "refseq_name": "acrosomal protein SP-10 isoform a precursor", "refseq_ac": [ { "id": "NP_001603", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001603", "type": "external" } ], "gene_names_uniprotkb": "ACRV1", "gene_names_refseq": "ACRV1; D11S4365; SP-10; SPACA2", "protein_names_uniprotkb": "Acrosomal protein SP-10; Acrosomal vesicle protein 1", "protein_names_refseq": "acrosomal protein SP-10 isoform a precursor; acrosomal protein SP-10; sperm protein 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:56)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "1637938;1693291;21488928;35051231;35442931;35580925;7619499;8373955", "class_list": "", "function": "ACRV1 protein was predominantly located in round and elongated spermatids in testes, indicating that ACRV1 may play an important role in mammalian spermatogenesis, [RefSeq, PubMed]; ACVR1-activating mutation causes neuropathic pain and sensory neuron hyperexcitability in humans., [RefSeq, PubMed]; This gene encodes a testis-specific, differentiation antigen, acrosomal vesicle protein 1, that arises within the acrosomal vesicle during spermatogenesis, and is associated with the acrosomal membranes and matrix of mature sperm. The acrosomal vesicle protein 1 may be involved in sperm-zona binding or penetration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53FF4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0001669 acrosomal vesicle;GO:0031982 vesicle", "go_biological_process": "GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "P26436-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28039-1", "uniprot_id": [ { "id": "AOAH_HUMAN", "url": "https://www.uniprot.org/uniprot/P28039", "type": "external" } ], "mass": 65105.0, "length": 575, "protein_name": "Acyloxyacyl hydrolase", "gene_name": "AOAH", "organism": "Human", "refseq_name": "acyloxyacyl hydrolase isoform 2 preproprotein", "refseq_ac": [ { "id": "NP_001170977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001170977", "type": "external" } ], "gene_names_uniprotkb": "AOAH", "gene_names_refseq": "AOAH", "protein_names_uniprotkb": "Acyloxyacyl hydrolase; 3.1.1.77", "protein_names_refseq": "acyloxyacyl hydrolase (neutrophil); acyloxyacyl hydrolase isoform 2 preproprotein", "tax_id": 9606, "disease": "", "pathway": " (hsa:313)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;1883828;22299025;22544926;24190977;25892735;26319989;26992070;27397612;27888910;28832583;28904123;29242379;29343645;29493099;29557506;29786170;30315122;30429286;30573663;31154438;31848261;32157095;32357974;32387766;32983136;33141586;34185709;34357683;34509645;35051231;35580925;37074911;37938771;38904010;8089145", "class_list": "glycogene", "function": "AOAH - Gene involved in innate immunity that have been associated with Chronic Rhinosinusitis. Review article, [RefSeq, PubMed]; AOAH rs60023210 variants may be associated with carotid intima-media thickness at bifurcation., [RefSeq, PubMed]; Acyloxyacyl Hydrolase Protects against Kidney Injury via Inhibition of Tubular CD74-Macrophage Crosstalk. Publication Status: Online-Only, [RefSeq, PubMed]; Analysis of AOAH function through its crystal structure and complex with lipopolysaccharide, [RefSeq, PubMed]; Removes the secondary (acyloxyacyl-linked) fatty acyl chains from the lipid A region of bacterial lipopolysaccharides (PubMed:1883828, PubMed:29343645, PubMed:8089145). By breaking down LPS, terminates the host response to bacterial infection and prevents prolonged and damaging inflammatory responses (By similarity). In peritoneal macrophages, seems to be important for recovery from a state of immune tolerance following infection by Gram-negative bacteria (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; This locus encodes both the light and heavy subunits of acyloxyacyl hydrolase. The encoded enzyme catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides, effectively detoxifying these molecules. The encoded protein may play a role in modulating host inflammatory response to gram-negative bacteria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Apr 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": 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": 0, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 743, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A4D1Y5;B7Z490;Q53F13", "ec_number_list": [ { "id": "3.1.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.77", "type": "external" } ], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050528 acyloxyacyl hydrolase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0009104 lipopolysaccharide catabolic process;GO:0006631 fatty acid metabolic process;GO:0050728 negative regulation of inflammatory response;GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "P28039-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55087-1", "uniprot_id": [ { "id": "AQP4_HUMAN", "url": "https://www.uniprot.org/uniprot/P55087", "type": "external" } ], "mass": 34830.0, "length": 323, "protein_name": "Aquaporin-4", "gene_name": "AQP4", "organism": "Human", "refseq_name": "aquaporin-4 isoform M1", "refseq_ac": [ { "id": "NP_001641", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001641", "type": "external" } ], "gene_names_uniprotkb": "AQP4", "gene_names_refseq": "AQP4; MIWC; MLC4; WCH4; hAQP4", "protein_names_uniprotkb": "Aquaporin-4; AQP-4; MIWC; Mercurial-insensitive water channel; WCH4", "protein_names_refseq": "aquaporin type4; aquaporin-4 isoform M1; mercurial-insensitive water channel", "tax_id": 9606, "disease": "Alpers-Huttenlocher syndrome (Disease Ontology:DOID:0080122); megalencephalic leukoencephalopathy with subcortical cysts (Disease Ontology:DOID:0080315); transverse myelitis (Disease Ontology:DOID:0080743); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); hydrocephalus (Disease Ontology:DOID:10908); optic neuritis (Disease Ontology:DOID:1210); primary biliary cholangitis (Disease Ontology:DOID:12236); malaria (Disease Ontology:DOID:12365); uveitis (Disease Ontology:DOID:13141); blindness (Disease Ontology:DOID:1432); retinal vein occlusion (Disease Ontology:DOID:1727); status epilepticus (Disease Ontology:DOID:1824); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); thymoma (Disease Ontology:DOID:3275); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); temporal lobe epilepsy (Disease Ontology:DOID:3328); middle cerebral artery infarction (Disease Ontology:DOID:3525); brain edema (Disease Ontology:DOID:4724); retinal disease (Disease Ontology:DOID:5679); central pontine myelinolysis (Disease Ontology:DOID:636); neuromyelitis optica (Disease Ontology:DOID:8869); diabetic retinopathy (Disease Ontology:DOID:8947); cerebral amyloid angiopathy (Disease Ontology:DOID:9246); diabetes mellitus (Disease Ontology:DOID:9351); Meniere's disease (Disease Ontology:DOID:9849); megalencephalic leukoencephalopathy with subcortical cysts 4, remitting (MONDO:MONDO:0957534)", "pathway": " (hsa:361); (R-HSA-432040); (R-HSA-432047)", "pathway_count": 3, "publication_count": 96, "publication_id_list": "10510269;10564231;10649434;11001937;11027599;11034202;11076974;11231887;11237011;11532455;11573934;11742978;11952783;11968001;12084581;12194985;12801959;1373524;14514735;14592814;14701836;1510932;1534149;15703994;15948717;16120822;16325777;16407073;16407156;16596446;17156409;17178220;17374283;17920625;18202181;18501347;18511455;18555844;18678926;18762715;18768791;18948439;19144687;19170255;19383790;19574955;19590626;19850109;19857466;20007705;20147624;21251984;22328087;22807325;23359558;24356448;26013827;27452731;29055082;29557506;2991279;30192525;3049610;3104109;32157095;32413299;32625206;35051231;35561310;37143309;38802114;4065330;7503232;7510718;7526388;7530250;7535000;7538665;7559426;7678419;8063828;8140421;8601457;8621489;8621513;8683474;8812490;8855281;9227644;9369468;9374639;9374640;9405233;9756892;9806845;9829975", "class_list": "", "function": "Forms a water-specific channel (PubMed:19383790, PubMed:7559426, PubMed:8601457). Plays an important role in brain water homeostasis (PubMed:37143309). It is involved in glymphatic solute transport and is required for a normal rate of water exchange across the blood brain interface. Required for normal levels of cerebrospinal fluid influx into the brain cortex and parenchyma along paravascular spaces that surround penetrating arteries, and for normal drainage of interstitial fluid along paravenous drainage pathways. Thereby, it is required for normal clearance of solutes from the brain interstitial fluid, including soluble beta-amyloid peptides derived from APP. Plays a redundant role in urinary water homeostasis and urinary concentrating ability (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; In cells transiently transfected with AQP4-M1 coding sequence we observed besides AQP4-M1 the additional presence of the AQP4-M23 isoform associated with the formation of typical orthogonal arrays of particles., [RefSeq, PubMed]; Macroscopic changes in aquaporin-4 underlie blast traumatic brain injury-related impairment in glymphatic function., [RefSeq, PubMed]; The expression of AQP4-Delta4 may represent a new regulatory mechanism through which the cell-surface expression and therefore the activity of AQP4 can be physiologically modulated., [RefSeq, PubMed]; This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. Additional isoforms, resulting from the use of alternative in-frame translation initiation codons, have also been described. Recent studies provided evidence for translational readthrough in this gene, and expression of C-terminally extended isoforms via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]., [RefSeq]", "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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 28, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "P78564", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0015250 water channel activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0030054 cell junction", "go_biological_process": "GO:0003091 renal water homeostasis;GO:0051289 protein homotetramerization;GO:0009992 intracellular water homeostasis;GO:0071346 cellular response to type II interferon;GO:0006833 water transport", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "P55087-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56559-1", "uniprot_id": [ { "id": "ARL4C_HUMAN", "url": "https://www.uniprot.org/uniprot/P56559", "type": "external" } ], "mass": 21487.0, "length": 192, "protein_name": "ADP-ribosylation factor-like protein 4C", "gene_name": "ARL4C", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 4C isoform 1", "refseq_ac": [ { "id": "NP_001269360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269360", "type": "external" } ], "gene_names_uniprotkb": "ARL4C; ARL7", "gene_names_refseq": "ARL4C; ARL7; LAK", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 4C; ADP-ribosylation factor-like protein 7; ADP-ribosylation factor-like protein LAK", "protein_names_refseq": "ADP ribosylation factor like GTPase 4C; ADP ribosylation factor-like protein 7; ADP-ribosylation factor-like 4C; ADP-ribosylation factor-like 7; ADP-ribosylation factor-like protein 4C isoform 1; ADP-ribosylation factor-like protein 4C; ADP-ribosylation factor-like protein LAK", "tax_id": 9606, "disease": "", "pathway": " (hsa:10123); (R-HSA-9029569)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10462049;10858438;11149950;11500512;11604492;11875109;12032151;12150943;12454263;12612088;14703507;14764426;15147902;17186944;17398095;18782758;19409876;19481530;20466882;20466885;20494359;20566875;20855588;21187453;21310851;21507939;22541735;22673513;23496987;23519696;23790976;25576301;26154972;26984517;26992070;27397612;27600516;27846572;27862975;28082258;28832583;28834231;28842423;28869506;29242379;29493099;29557506;29632711;29772548;29786170;30429286;30833945;31154438;31844290;31848261;32157095;32983136;33592498;33968037;34171305;34185709;35051231;35580925;35718975;36010968;36284347;36366750;37141698;37237373", "class_list": "", "function": "ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. [provided by RefSeq, Jul 2008]., [RefSeq]; ARL4C depletion suppresses the resistance of ovarian cancer to carboplatin by disrupting cholesterol transport and autophagy via notch-RBP-Jkappa-H3K4Me3-OSBPL5., [RefSeq, PubMed]; ARL4C is associated with epithelial-to-mesenchymal transition in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; ARL7 might modulate the intracellular vesicular transport via interaction with microtubules., [RefSeq, PubMed]; Identification of Neural Progenitor Cell-associated Chemoradiotherapy Resistance Gene Set (ARL4C, MSN, TNFAIP6) for Prognosis of Glioma., [RefSeq, PubMed]; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. May be involved in transport between a perinuclear compartment and the plasma membrane, apparently linked to the ABCA1-mediated cholesterol secretion pathway. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in the GDP-bound form. Regulates the microtubule-dependent intracellular vesicular transport from early endosome to recycling endosome process., [UniProtKB, PubMed, PubMed, PubMed]; Stepwise activation of p63 and the MEK/ERK pathway induces the expression of ARL4C to promote oral squamous cell carcinoma cell proliferation., [RefSeq, PubMed]; Study shows that three related Arf-like GTPases Arl4a, Arl4c, and Arl4d, are able to recruit ARNO and other cytohesins to the plasma membrane by binding to their PH domains irrespective of whether they are in the diglycine or triglycine form., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q4A519;Q53R10;Q9BVN1;Q9UQ34", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0043014 alpha-tubulin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "P56559-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59998-1", "uniprot_id": [ { "id": "ARPC4_HUMAN", "url": "https://www.uniprot.org/uniprot/P59998", "type": "external" } ], "mass": 19667.0, "length": 168, "protein_name": "Actin-related protein 2/3 complex subunit 4", "gene_name": "ARPC4", "organism": "Human", "refseq_name": "actin-related protein 2/3 complex subunit 4 isoform b", "refseq_ac": [ { "id": "NP_001020130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020130", "type": "external" } ], "gene_names_uniprotkb": "ARPC4; ARC20", "gene_names_refseq": "ARC20; ARPC4; DEVLO; P20-ARC", "protein_names_uniprotkb": "Actin-related protein 2/3 complex subunit 4; Arp2/3 complex 20 kDa subunit; p20-ARC", "protein_names_refseq": "actin related protein 2/3 complex, subunit 4, 20kDa; actin-related protein 2/3 complex subunit 4 isoform b; arp2/3 complex 20 kDa subunit; arp2/3 protein complex subunit p20", "tax_id": 9606, "disease": "Down syndrome (Disease Ontology:DOID:14250); cancer (Disease Ontology:DOID:162); psoriasis (Disease Ontology:DOID:8893); developmental delay, language impairment, and ocular abnormalities (MONDO:MONDO:0859324)", "pathway": " (hsa:10093); (R-HSA-2029482); (R-HSA-3928662); (R-HSA-5663213); (R-HSA-8856828); (R-HSA-9664422)", "pathway_count": 6, "publication_count": 287, "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;11741539;11747816;11804587;11829459;11854399;11877457;11877461;11889126;12055636;12057195;12105426;12189515;12213210;12213833;12235133;12447393;12546821;12665801;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;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;20112406;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;23481700;23536704;23675550;23823722;23861397;23891661;24130457;24186068;24581490;24715725;2474607;24789820;24966051;25107275;25303366;25341920;25418920;25576301;25645385;26042225;26154972;26403691;26768311;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28832583;28860189;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29925947;30315122;30429286;30484775;30524438;30833945;31154438;31190401;31222486;31530632;31844290;31848261;31937595;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33691108;33717175;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34357683;34509645;34561969;34725712;34932366;35047857;35051231;35154160;35251023;35580925;36010968;36215666;36241641;36284347;36580660;37938771;38665916;6146630;7478585;7848918;7877694;8524399;8552632;8809042;8986718;9092476;9100026;9230079;9359840;9427626;9428629;9600938;9635431;9705280;9736607;9799231;9843499;9883880;9885284", "class_list": "", "function": "ARPC4 promotes bladder cancer cell invasion and is associated with lymph node metastasis., [RefSeq, PubMed]; Actin-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9230079). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:29925947). The Arp2/3 complex 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]; This gene encodes one of seven subunits of the human Arp2/3 protein complex. This complex controls actin polymerization in cells and has been conserved throughout eukaryotic evolution. This gene encodes the p20 subunit, which is necessary for actin nucleation and high-affinity binding to F-actin. Alternative splicing results in multiple transcript variants. Naturally occurring read-through transcription exists between this gene and the downstream tubulin tyrosine ligase-like family, member 3 (TTLL3), which results in the production of a fusion protein. [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": 0, "reported_mutagensis": 0, "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": "C9JWM7;E7ETI0;F6TTL5;O15509;Q6P0W5;Q96QJ3", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005200 structural constituent of cytoskeleton;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0015629 actin cytoskeleton;GO:0070062 extracellular exosome;GO:0035861 site of double-strand break", "go_biological_process": "GO:0030041 actin filament polymerization;GO:0034314 Arp2/3 complex-mediated actin nucleation;GO:0045010 actin nucleation", "synthesized_glycan_count": 0, "hit_score": 29.0, "record_id": "P59998-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q03989-1", "uniprot_id": [ { "id": "ARI5A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q03989", "type": "external" } ], "mass": 64074.0, "length": 594, "protein_name": "AT-rich interactive domain-containing protein 5A", "gene_name": "ARID5A", "organism": "Human", "refseq_name": "AT-rich interactive domain-containing protein 5A isoform d", "refseq_ac": [ { "id": "NP_001306021", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306021", "type": "external" } ], "gene_names_uniprotkb": "ARID5A; MRF1", "gene_names_refseq": "ARID5A; MRF-1; MRF1; RP11-363D14", "protein_names_uniprotkb": "AT-rich interactive domain-containing protein 5A; ARID domain-containing protein 5A; MRF-1; Modulator recognition factor 1", "protein_names_refseq": "ARID domain-containing protein 5A; AT rich interactive domain 5A (MRF1-like); AT-rich interactive domain-containing protein 5A isoform d; AT-rich interactive domain-containing protein 5A; RFVG5814; modulator recognition factor 1; modulator recognition factor I", "tax_id": 9606, "disease": "", "pathway": " (hsa:10865)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;15941852;23481700;24714562;24715725;24782182;25502872;25576301;25892735;26154972;26375851;26992070;27846572;28904123;29044508;29437277;29493099;29557506;30379171;30410026;30429286;31217245;31844290;32157095;32209697;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33717175;33912179;33936100;34211107;34357683;34509645;34932366;35051231;35318648;35494241;8649988", "class_list": "", "function": "AT-rich-interactive domain-containing protein 5A functions as a negative regulator of retinoic acid receptor-related orphan nuclear receptor gammat-induced Th17 cell differentiation., [RefSeq, PubMed]; DNA-binding protein that may regulate transcription and act as a repressor by binding to AT-rich stretches in the promoter region of target genes (PubMed:8649988). May positively regulate chondrocyte-specific transcription such as of COL2A1 in collaboration with SOX9 and positively regulate histone H3 acetylation at chondrocyte-specific genes. May stimulate early-stage chondrocyte differentiation and inhibit later stage differention (By similarity). Can repress ESR1-mediated transcriptional activation; proposed to act as corepressor for selective nuclear hormone receptors (PubMed:15941852). As an RNA-binding protein, involved in the regulation of inflammatory response by stabilizing selective inflammation-related mRNAs, such as STAT3 and TBX21 (By similarity). Also stabilizes IL6 mRNA (PubMed:32209697). Binds to stem loop structures located in the 3'UTRs of IL6, STAT3 and TBX21 mRNAs; at least for STAT3 prevents binding of ZC3H12A to the mRNA stem loop structure thus inhibiting its degradation activity. Contributes to elevated IL6 levels possibly implicated in autoimmunity processes. IL6-dependent stabilization of STAT3 mRNA may promote differentiation of naive CD4+ T-cells into T-helper Th17 cells. In CD4+ T-cells may also inhibit RORC-induced Th17 cell differentiation independently of IL6 signaling. Stabilization of TBX21 mRNA contributes to elevated interferon-gamma secretion in Th1 cells possibly implicated in the establishment of septic shock (By similarity). Stabilizes TNFRSF4/OX40 mRNA by binding to the conserved stem loop structure in its 3'UTR; thereby competing with the mRNA-destabilizing functions of RC3H1 and endoribonuclease ZC3H12A (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Members of the ARID protein family, including ARID5A, have diverse functions but all appear to play important roles in development, tissue-specific gene expression, and regulation of cell growth (Patsialou et al., 2005 [PubMed 15640446]).[supplied by OMIM, Mar 2008]., [RefSeq]; Overexpression of ARID5A resulted in more number of cells in G0/G1 phase of cell cycle, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "C9J1Q0;Q6NX37", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;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:0005730 nucleolus;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0032740 positive regulation of interleukin-17 production;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:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q03989-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q04656-1", "uniprot_id": [ { "id": "ATP7A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q04656", "type": "external" } ], "mass": 163373.0, "length": 1500, "protein_name": "Copper-transporting ATPase 1", "gene_name": "ATP7A", "organism": "Human", "refseq_name": "copper-transporting ATPase 1 isoform 1", "refseq_ac": [ { "id": "NP_000043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000043", "type": "external" } ], "gene_names_uniprotkb": "ATP7A; MC1; MNK", "gene_names_refseq": "ATP7A; DSMAX; HMNX; MK; MNK; SMAX3", "protein_names_uniprotkb": "Copper-transporting ATPase 1; 7.2.2.8; Copper pump 1; Menkes disease-associated protein", "protein_names_refseq": "ATPase, Cu++ transporting, alpha polypeptide; Cu++-transporting P-type ATPase; Menkes disease-associated protein; copper pump 1; copper-transporting ATPase 1 isoform 1; copper-transporting ATPase 1", "tax_id": 9606, "disease": "X-linked distal spinal muscular atrophy 3 (Disease Ontology:DOID:0111196); occipital horn syndrome (Disease Ontology:DOID:0111272); Alzheimer's disease (Disease Ontology:DOID:10652); iron deficiency anemia (Disease Ontology:DOID:11758); spinal muscular atrophy (Disease Ontology:DOID:12377); Menkes disease (Disease Ontology:DOID:1838); cutis laxa (Disease Ontology:DOID:3144); aortic aneurysm (Disease Ontology:DOID:3627); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); osteoarthritis (Disease Ontology:DOID:8398); Wilson disease (Disease Ontology:DOID:893); metal metabolism disorder (Disease Ontology:DOID:896)", "pathway": " (hsa:538); (R-HSA-3299685); (R-HSA-6803544); (R-HSA-936837)", "pathway_count": 4, "publication_count": 186, "publication_id_list": "10.1101/2023.09.13.557529;10029572;10079814;10079817;10319589;10401004;10419525;10484781;10514471;10521424;10615129;10656833;10767338;10833429;10919671;10970802;10982;11018045;11092760;11139407;11214319;11237011;11241493;11350187;11431706;11507097;11518528;11886899;11912930;12446202;12829378;15044467;15046979;15064408;15280035;15317809;15596429;15831496;15919184;15925480;15927447;15981243;16051599;16182249;16371425;16401067;1656976;16615992;1668270;16700898;16750198;16880213;17108763;17275676;17519234;1763037;17707404;18358825;18703498;18723824;18936159;19219623;19345671;19453293;19542232;19878721;19917612;1999334;20068231;20070187;20170900;20367259;20690882;2071038;21215271;21385867;21393238;2160952;21667063;21967640;22186024;22389498;22493009;22869735;22910329;22992316;23028306;23152058;23164639;23186163;23196729;23454490;23455484;23481700;24275569;24392018;25047527;25645385;26055706;27067231;27600516;27920218;28228285;28389643;28510447;28832583;28834231;29242379;29393594;29557506;29632046;29632711;30315122;30429286;30573663;30626607;31020640;31154438;31217245;31283225;31530632;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32488085;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;34357683;34433824;3457020;34932366;35051231;35154160;35251023;3532102;35580925;3619451;36284347;3693360;38141875;39302247;5389100;60;6286671;6832622;6961438;7021796;7172448;7487923;7490081;7607665;7626145;7977350;8045293;807573;8298639;8379940;8428933;8452552;8490646;8490647;8490659;8663465;8981948;9147644;9246006;9295278;9307043;9369223;9437429;9467005;9639555;9693104;9726962;9923614", "class_list": "", "function": "ATP-driven copper (Cu(+)) ion pump that plays an important role in intracellular copper ion homeostasis (PubMed:10419525, PubMed:11092760, PubMed:28389643). Within a catalytic cycle, acquires Cu(+) ion from donor protein on the cytoplasmic side of the membrane and delivers it to acceptor protein on the lumenal side. The transfer of Cu(+) ion across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing to outward-facing state (PubMed:10419525, PubMed:19453293, PubMed:19917612, PubMed:28389643, PubMed:31283225). Under physiological conditions, at low cytosolic copper concentration, it is localized at the trans-Golgi network (TGN) where it transfers Cu(+) ions to cuproenzymes of the secretory pathway (PubMed:11092760, PubMed:28389643). Upon elevated cytosolic copper concentrations, it relocalizes to the plasma membrane where it is responsible for the export of excess Cu(+) ions (PubMed:10419525, PubMed:28389643). May play a dual role in neuron function and survival by regulating cooper efflux and neuronal transmission at the synapse as well as by supplying Cu(+) ions to enzymes such as PAM, TYR and SOD3 (By similarity) (PubMed:28389643). In the melanosomes of pigmented cells, provides copper cofactor to TYR to form an active TYR holoenzyme for melanin biosynthesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype., [RefSeq, PubMed]; This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]., [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": 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": 17, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 12, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B1AT72;O00227;O00745;Q9BYY8", "ec_number_list": [ { "id": "1.15.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.15.1.1", "type": "external" }, { "id": "7.2.2.8", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.8", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0005507 copper ion binding;GO:0005375 copper ion transmembrane transporter activity;GO:0016532 superoxide dismutase copper chaperone activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0014069 postsynaptic density", "go_biological_process": "GO:0006878 intracellular copper ion homeostasis;GO:0007626 locomotory behavior;GO:0030198 extracellular matrix organization;GO:0048286 lung alveolus development;GO:0001974 blood vessel remodeling", "synthesized_glycan_count": 0, "hit_score": 19.1, "record_id": "Q04656-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q10567-1", "uniprot_id": [ { "id": "AP1B1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q10567", "type": "external" } ], "mass": 104607.0, "length": 949, "protein_name": "AP-1 complex subunit beta-1", "gene_name": "AP1B1", "organism": "Human", "refseq_name": "AP-1 complex subunit beta-1 isoform a", "refseq_ac": [ { "id": "NP_001118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001118", "type": "external" } ], "gene_names_uniprotkb": "AP1B1; ADTB1; BAM22; CLAPB2", "gene_names_refseq": "ADTB1; AP105A; AP1B1; BAM22; CLAPB2; KIDAR", "protein_names_uniprotkb": "AP-1 complex subunit beta-1; Adaptor protein complex AP-1 subunit beta-1; Adaptor-related protein complex 1 subunit beta-1; Beta-1-adaptin; Beta-adaptin 1; Clathrin assembly protein complex 1 beta large chain; Golgi adaptor HA1/AP1 adaptin beta subunit", "protein_names_refseq": "ADTB1, CLAPB2; AP-1 complex subunit beta-1 isoform a; AP-1 complex subunit beta-1; Golgi adaptor HA1/AP1 adaptin beta subunit; adapter-related protein complex 1 subunit beta-1; adaptor protein complex AP-1 subunit beta-1; adaptor related protein complex 1 beta 1 subunit; beta-1-adaptin; beta-adaptin 1; beta-prime-adaptin; beta1-adaptin; clathrin assembly protein complex 1 beta large chain; plasma membrane adaptor HA2/AP2 adaptor beta subunit", "tax_id": 9606, "disease": "Kartagener syndrome (Disease Ontology:DOID:0050144); visceral heterotaxy (Disease Ontology:DOID:0050545); primary ciliary dyskinesia (Disease Ontology:DOID:9562); ichthyosiform erythroderma, corneal involvement, and hearing loss (MONDO:MONDO:0009440)", "pathway": " (hsa:162); (R-HSA-164940); (R-HSA-2132295); (R-HSA-432720); (R-HSA-432722)", "pathway_count": 5, "publication_count": 122, "publication_id_list": "10036229;10064083;10072072;10394364;10436028;10480952;10540230;10593899;10608806;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;18083107;18292509;18477386;19559397;1956401;19564404;19608861;19651769;19901323;20230749;20708039;21116285;2121367;21441454;21620353;2190094;2391366;25418920;25576301;26824387;28228285;29314611;30429286;30573663;30779550;31092671;31530632;31630788;31630791;31848261;31937595;31998317;32119511;32161166;32816642;33043033;33349978;34019948;34725712;35138101;36215666;36284347;37217939;37938771;38665916;40914422;7481823;7592972;7650016;7667286;7987321;8046351;8134367;8145819;8148318;8313912;8374173;8397411;8415765;8524399;8642258;8670264;8687433;8812422;8849454;8909537;8939989;8947036;9075930;9202021;9311912;9312039;9497313;9539769;9545226;9606180;9733768", "class_list": "", "function": "Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]., [RefSeq]; MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1., [RefSeq, PubMed]; Novel function for AP-1B during cell migration., [RefSeq, PubMed]; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes (PubMed:31630791). 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., [UniProtKB, PubMed]; Three individuals from two unrelated families in whom a MEDNIK-like phenotype segregates with two homozygous null variants in AP1B1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9JRD1;F8WDL0;P78436;Q20WL3;Q86X54", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0030276 clathrin binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0032588 trans-Golgi network 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:0110010 basolateral protein secretion", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "Q10567-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95154-1", "uniprot_id": [ { "id": "ARK73_HUMAN", "url": "https://www.uniprot.org/uniprot/O95154", "type": "external" } ], "mass": 37206.0, "length": 331, "protein_name": "Aldo-keto reductase family 7 member A3", "gene_name": "AKR7A3", "organism": "Human", "refseq_name": "aldo-keto reductase family 7 member A3", "refseq_ac": [ { "id": "NP_036199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036199", "type": "external" } ], "gene_names_uniprotkb": "AKR7A3; AFAR2", "gene_names_refseq": "AFAR2; AKR7A3", "protein_names_uniprotkb": "Aldo-keto reductase family 7 member A3; 1.1.1.2; AFB1 aldehyde reductase 2; AFB1-AR 2; Aflatoxin B1 aldehyde reductase member 3", "protein_names_refseq": "AFB1 aldehyde reductase 2; AFB1-AR 2; aflatoxin B1 aldehyde reductase 2; aflatoxin B1 aldehyde reductase member 3; aflatoxin aldehyde reductase; aldo-keto reductase family 7 member A3; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:22977); (R-HSA-5423646)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10383892;11409944;11904223;12144777;12727802;12879023;12933810;1504254;16385575;1643250;16970545;18357469;18416522;19463;20068231;24275569;2573352;29557506;30833945;31154438;31530632;32325220;32897882;32983136;3372534;33968037;35051231;35561310;35580925;36241641;37938771;3931076;7764673;7766804;8439558;8703034;8812420;8975785;9278457;9576847", "class_list": "", "function": "Aldo-keto reductases, such as AKR7A3, are involved in the detoxification of aldehydes and ketones.[supplied by OMIM, Apr 2004]., [RefSeq]; Catalyzes the NADPH-dependent reduction of various carbonyl-containing compounds, including aldehydes, ketones, and toxic products from cellular metabolism or environmental exposure. Can reduce the dialdehyde form of aflatoxin B1 (AFB1) into alcohol derivatives, via monoaldehydes intermediates. Can reduce the dialdehyde form of aflatoxin B1 (AFB1) into alcohol derivatives, via monoaldehydes intermediates, thus preventing the formation of protein adducts that contribute to AFB1-induced toxicity., [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": 4, "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": "Q86SR4;Q8IVN6;Q8N5V6;Q8TAX1;Q9NUC3", "ec_number_list": [ { "id": "1.1.1.n11", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.n11", "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": "1.1.1.54", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.54", "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" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" } ], "go_molecular_function": "GO:0009055 electron transfer activity;GO:0042802 identical protein binding;GO:0008106 alcohol dehydrogenase (NADP+) activity;GO:0070401 NADP+ binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0046223 aflatoxin catabolic process;GO:0006081 aldehyde metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "O95154-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULZ3-1", "uniprot_id": [ { "id": "ASC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULZ3", "type": "external" } ], "mass": 21627.0, "length": 195, "protein_name": "Apoptosis-associated speck-like protein containing a CARD", "gene_name": "PYCARD", "organism": "Human", "refseq_name": "apoptosis-associated speck-like protein containing a CARD isoform a", "refseq_ac": [ { "id": "NP_037390", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037390", "type": "external" } ], "gene_names_uniprotkb": "PYCARD; ASC; CARD5; TMS1", "gene_names_refseq": "ASC; CARD5; PYCARD; TMS-1; TMS1; TMS", "protein_names_uniprotkb": "Apoptosis-associated speck-like protein containing a CARD; Caspase recruitment domain-containing protein 5; PYD and CARD domain-containing protein; Target of methylation-induced silencing 1; hASC", "protein_names_refseq": "apoptosis-associated speck-like protein containing a CARD isoform a; apoptosis-associated speck-like protein containing a CARD; caspase recruitment domain-containing protein 5; target of methylation-induced silencing 1", "tax_id": 9606, "disease": "steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:29108); (R-HSA-5660668); (R-HSA-6798695); (R-HSA-844456); (R-HSA-844615); (R-HSA-9660826); (R-HSA-9692916)", "pathway_count": 7, "publication_count": 167, "publication_id_list": "10567338;11103776;11103777;11157473;11237011;11313357;11374873;11498534;11786556;11967258;12191486;12486103;12615073;12646168;12656673;14499617;14595024;14634131;14730312;14761955;15020601;15030775;15096476;15208624;15456791;15641782;1574116;16037825;16585594;16964285;16982856;17035307;17036048;17178784;17270291;17339483;17349957;17412287;17435760;17596301;17599095;17603038;17703304;17761676;18362139;19158675;19158676;19234215;19380580;19398035;19494289;19570822;19759015;19759850;19915568;20023662;20303873;20482797;21124315;21487011;21575908;2182768;22046132;22253733;22267217;22312431;22544926;22732093;23229815;23483519;23530044;23650620;23817414;23878142;23955712;24509444;24622840;24630722;24715725;24854014;25135833;25266676;25605870;25645385;25764917;25847972;25907116;26116704;26320399;26378163;26549800;26992070;27164085;27203180;27432880;27600516;27796369;28063628;28094437;28148787;28218747;28314590;28514659;28832583;29242379;29294448;29393594;29437277;29440442;29508533;29557506;29632711;29712950;29786170;30185776;30315122;30410026;30429286;30524438;30573663;30674671;31034780;31217245;31231549;31844290;31848261;31937595;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32728199;32983136;33060197;33141586;33298915;33392160;33420028;33420033;33633747;33968037;33980849;34087483;34341353;34509645;34678144;34706239;35051231;35251023;35318648;35559676;35580925;36050480;36142182;36284347;36675029;37938771;38749754;38813354;40250624;450099;8692836;9023774;9989503", "class_list": "", "function": "Functions as a key mediator in apoptosis and inflammation (PubMed:11103777, PubMed:12646168, PubMed:15030775, PubMed:17349957, PubMed:17599095, PubMed:19158675, PubMed:19158676, PubMed:19234215, PubMed:19494289, PubMed:21487011, PubMed:24630722, PubMed:25847972, PubMed:30674671, PubMed:34678144, PubMed:36050480). Promotes caspase-mediated apoptosis involving predominantly caspase-8 and also caspase-9 in a probable cell type-specific manner (PubMed:11103777, PubMed:12646168). Involved in activation of the mitochondrial apoptotic pathway, promotes caspase-8-dependent proteolytic maturation of BID independently of FADD in certain cell types and also mediates mitochondrial translocation of BAX and activates BAX-dependent apoptosis coupled to activation of caspase-9, -2 and -3 (PubMed:14730312, PubMed:16964285). Involved in innate immune response by acting as an integral adapter in the assembly of various inflammasomes (NLRP1, NLRP2, NLRP3, NLRP6, AIM2 and probably IFI16) which recruit and activate caspase-1 leading to processing and secretion of pro-inflammatory cytokines (PubMed:15030775, PubMed:16982856, PubMed:17349957, PubMed:17599095, PubMed:19158675, PubMed:19158676, PubMed:19234215, PubMed:21487011, PubMed:23530044, PubMed:24630722, PubMed:25847972, PubMed:29440442, PubMed:30674671, PubMed:33980849, PubMed:34678144, PubMed:34706239). Caspase-1-dependent inflammation leads to macrophage pyroptosis, a form of cell death (PubMed:24630722). The function as activating adapter in different types of inflammasomes is mediated by the pyrin and CARD domains and their homotypic interactions (PubMed:14499617, PubMed:19234215, PubMed:24630722). Clustered PYCARD nucleates the formation of caspase-1 filaments through the interaction of their respective CARD domains, acting as a platform for of caspase-1 polymerization (PubMed:24630722). In the NLRP1 and NLRC4 inflammasomes seems not be required but facilitates the processing of procaspase-1 (PubMed:17349957). In cooperation with NOD2 involved in an inflammasome activated by bacterial muramyl dipeptide leading to caspase-1 activation (PubMed:16964285). May be involved in RIGI-triggered pro-inflammatory responses and inflammasome activation (PubMed:19915568). In collaboration with AIM2 which detects cytosolic double-stranded DNA may also be involved in a caspase-1-independent cell death that involves caspase-8 (PubMed:19158675, PubMed:19158676). In adaptive immunity may be involved in maturation of dendritic cells to stimulate T-cell immunity and in cytoskeletal rearrangements coupled to chemotaxis and antigen uptake may be involved in post-transcriptional regulation of the guanine nucleotide exchange factor DOCK2; the latter function is proposed to involve the nuclear form (PubMed:22732093). Also involved in transcriptional activation of cytokines and chemokines independent of the inflammasome; this function may involve AP-1, NF-kappa-B, MAPK and caspase-8 signaling pathways (PubMed:12486103, PubMed:16585594). For regulation of NF-kappa-B activating and inhibiting functions have been reported (PubMed:12486103). Modulates NF-kappa-B induction at the level of the IKK complex by inhibiting kinase activity of CHUK and IKBK (PubMed:12486103, PubMed:16585594). Proposed to compete with RIPK2 for association with CASP1 thereby down-regulating CASP1-mediated RIPK2-dependent NF-kappa-B activation and activating interleukin-1 beta processing (PubMed:16585594). Modulates host resistance to DNA virus infection, probably by inducing the cleavage of and inactivating CGAS in presence of cytoplasmic double-stranded DNA (PubMed:28314590)., [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]; May have a regulating effect on the function as inflammasome adapter., [UniProtKB, PubMed, PubMed]; PYCARD gene polymorphisms and susceptibility to periodontal and coronary heart diseases., [RefSeq, PubMed]; Proapoptotic CARD protein. Subcellular redistribution into perinuclear spherical structure appears to precede the downstream activation of a caspase-9-mediated apoptotic pathway. Does not activate NK-kB-dependent transcription., [RefSeq, PubMed]; Same as TMS1(target of methylation-induced silencing-1). TMS1/ASC found to be inactivated in association with promoter region methylation in human breast cancer cell lines and tumors., [RefSeq, PubMed]; Seems to inhibit inflammasome-mediated maturation of interleukin-1 beta., [UniProtKB, PubMed]; Sirtuin 6 Deacetylates Apoptosis-Associated Speck-Like Protein (ASC) to Inhibit Endothelial Cell Pyroptosis in Atherosclerosis., [RefSeq, PubMed]; The Inflammasome Activity of NLRP3 Is Independent of NEK7 in HEK293 Cells Co-Expressing ASC. Publication Status: Online-Only, [RefSeq, PubMed]; The Mechanism of Osteoprotegerin-Induced Osteoclast Pyroptosis In Vitro. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two 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": 6, "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": "Q96D12;Q9BSZ5;Q9HBD0;Q9NXJ8", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0019899 enzyme binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0046456 icosanoid biosynthetic process;GO:0002221 pattern recognition receptor signaling pathway;GO:0044546 NLRP3 inflammasome complex assembly;GO:0007231 osmosensory signaling pathway;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "Q9ULZ3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0VD83-4", "uniprot_id": [ { "id": "APOBR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0VD83", "type": "external" } ], "mass": 115634.0, "length": 1097, "protein_name": "Apolipoprotein B receptor", "gene_name": "APOBR", "organism": "Human", "refseq_name": "apolipoprotein B receptor", "refseq_ac": [ { "id": "NP_061160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061160", "type": "external" } ], "gene_names_uniprotkb": "APOBR; APOB48R", "gene_names_refseq": "APOB100R; APOB48R; APOBR", "protein_names_uniprotkb": "Apolipoprotein B receptor; Apolipoprotein B-100 receptor; Apolipoprotein B-48 receptor; Apolipoprotein B48 receptor; apoB-48R", "protein_names_refseq": "apoB-48R; apolipoprotein B receptor; apolipoprotein B-100 receptor; apolipoprotein B-48 receptor; apolipoprotein B100 receptor; apolipoprotein B48 receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:55911); (R-HSA-8964046)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "10191299;10224102;10852956;12658354;12700342;12700345;15265030;15591219;15830122;17339654;18644789;21367954;22190030;22461740;23186163;23519644;24275569;26129832;29557506;30272292;31154438;31848261;32387766;32983136;33298915;33912179;34019948;34509645;35051231;35580925;36284347;40914422;7619811;8294473;9633939", "class_list": "", "function": "Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich lipoproteins. This receptor may provide essential lipids, lipid-soluble vitamins and other nutrients to reticuloendothelial cells. If overwhelmed with elevated plasma triglyceride, the apolipoprotein B48 receptor may contribute to foam cell formation, endothelial dysfunction, and atherothrombogenesis. [provided by RefSeq, Jul 2008]., [RefSeq]; Atherogenic remnant lipoproteins induced macrophage foam cell formation via apoB48R, indicating a potential role of apoB48R in atherosclerosis. Erratum:[Arterioscler Thromb Vasc Biol. 2013 Jun;33(6):e118], [RefSeq, PubMed]; Investigation of apoB48R gene transcription in circulating monocytes: increase in apoB48R gene transcription following high-fat meal, [RefSeq, PubMed]; Macrophage receptor that binds to the apolipoprotein B48 (APOB) of dietary triglyceride (TG)-rich lipoproteins (TRL) or to a like domain of APOB in hypertriglyceridemic very low density lipoprotein (HTG-VLDL). Binds and internalizes TRL when out of the context of the macrophage. May provide essential lipids to reticuloendothelial cells. Could also be involved in foam cell formation with elevated TRL and remnant lipoprotein (RLP). Mediates the rapid high-affinity uptake of chylomicrons (CM), HTG-VLDL, and trypsinized (tryp) VLDL devoid of APOE in vitro in macrophages., [UniProtKB, PubMed, PubMed, PubMed]; Nucleotide variations in the apolipoprotein B48 receptor gene is associated with hypercholesterolemia, [RefSeq, PubMed]; The findings reported here demonstrated that patients with mutations in FASN (c.G7192T, p.A2398S) and APOBR (c.C1883G, p.T628R) may be predisposed to hypothyroidism. These mutations may disrupt the regulation of fatty acid biosynthesis and lipid metabolism. These findings may reveal the high degree of genetic heterogeneity in hypothyroidism phenotypes., [RefSeq, PubMed]; The obesity risk alleles of non-synonymous SNPs at SH2B1 and APOB48R have no strong effect on weight loss-related phenotypes in overweight children after a 1-year lifestyle intervention., [RefSeq, PubMed]; These findings suggest that APOB48R represents a molecular target of postprandial lipoproteins via PPAR-dependent pathways in human monocytes and macrophages and advance an important link between postprandial metabolism of dietary fats and atherogenesis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "H3BU97;Q0VD81;Q8NC15;Q9NPJ9", "ec_number_list": [], "go_molecular_function": "GO:0030229 very-low-density lipoprotein particle receptor activity;GO:0030228 lipoprotein particle receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0034361 very-low-density lipoprotein particle;GO:0042627 chylomicron;GO:0034362 low-density lipoprotein particle", "go_biological_process": "GO:0006641 triglyceride metabolic process;GO:0006869 lipid transport;GO:0008203 cholesterol metabolic process;GO:0090077 foam cell differentiation", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q0VD83-4", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95429-1", "uniprot_id": [ { "id": "BAG4_HUMAN", "url": "https://www.uniprot.org/uniprot/O95429", "type": "external" } ], "mass": 49594.0, "length": 457, "protein_name": "BAG family molecular chaperone regulator 4", "gene_name": "BAG4", "organism": "Human", "refseq_name": "BAG family molecular chaperone regulator 4 isoform 2", "refseq_ac": [ { "id": "NP_001191807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191807", "type": "external" } ], "gene_names_uniprotkb": "BAG4; SODD", "gene_names_refseq": "BAG-4; BAG4; SODD", "protein_names_uniprotkb": "BAG family molecular chaperone regulator 4; BAG-4; Bcl-2-associated athanogene 4; Silencer of death domains", "protein_names_refseq": "BAG family molecular chaperone regulator 4 isoform 2; BAG family molecular chaperone regulator 4; BCL2 associated athanogene 4; bcl-2-associated athanogene 4; silencer of death domains", "tax_id": 9606, "disease": "pancreatic cancer (Disease Ontology:DOID:1793)", "pathway": " (hsa:9530); (R-HSA-3371453); (R-HSA-5655302); (R-HSA-75893); (R-HSA-8853336)", "pathway_count": 5, "publication_count": 117, "publication_id_list": "10579907;10652257;10918587;10954706;11157491;11237011;11429702;11689702;11739186;11747420;12017295;12058034;12853476;12917326;12974469;14534538;15050920;15364926;15448205;15556967;15802566;1586970;16091734;16278218;16844695;17505008;1754405;17636564;17698633;18235501;18235502;18337450;18373495;18381441;18412956;18550409;18552176;18757403;19103595;19147536;19229036;19381019;19664995;19749790;19809159;19914676;19946327;20094046;20179196;20709759;21091114;21160078;21666749;21711248;22465953;22479555;22541429;22735644;22837387;22940245;23186163;23301498;23349863;23558953;24129315;24270810;24588013;24715725;24850843;25576301;25645385;25880248;25892735;28228285;2848815;28832583;29331515;29557506;30315122;30397120;30620550;30779550;31092671;31217245;31844290;32157095;32161166;32357974;32387766;32897882;32983136;33592498;33691108;33912179;33981976;34019948;34171305;34419501;35051231;35318648;35580925;36241641;36284347;37107587;37938771;39894887;40307207;7585962;7758105;8679576;8721986;8946918;9305631;9857065;9873016;9915703;9920933", "class_list": "", "function": "Altered signaling of TNFalpha-TNFR1 and SODD/BAG4 is responsible for radioresistance in human HT-R15 cells., [RefSeq, PubMed]; Bcl2-associated athanogene 4 promotes the invasion and metastasis of gastric cancer cells by activating the PI3K/AKT/NF-kappaB/ZEB1 axis., [RefSeq, PubMed]; Inhibits the chaperone activity of HSP70/HSC70 by promoting substrate release (By similarity). Prevents constitutive TNFRSF1A signaling. Negative regulator of PRKN translocation to damaged mitochondria., [UniProtKB, PubMed]; SODD Promotes Lung Cancer Tumorigenesis by Activating the PDK1/AKT and RAF/MEK/ERK Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [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": 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": 4, "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": "B4E217;O95818", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0051087 protein-folding chaperone binding;GO:0031625 ubiquitin protein ligase binding;GO:0000774 adenyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0045785 positive regulation of cell adhesion;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0072659 protein localization to plasma membrane;GO:0050821 protein stabilization", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "O95429-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15336-1", "uniprot_id": [ { "id": "ATF2_HUMAN", "url": "https://www.uniprot.org/uniprot/P15336", "type": "external" } ], "mass": 54537.0, "length": 505, "protein_name": "Cyclic AMP-dependent transcription factor ATF-2", "gene_name": "ATF2", "organism": "Human", "refseq_name": "cyclic AMP-dependent transcription factor ATF-2 isoform 1", "refseq_ac": [ { "id": "NP_001243019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243019", "type": "external" } ], "gene_names_uniprotkb": "ATF2; CREB2; CREBP1", "gene_names_refseq": "ATF2; CRE-BP1; CREB-2; CREB2; HB16; TREB7", "protein_names_uniprotkb": "Cyclic AMP-dependent transcription factor ATF-2; Activating transcription factor 2; CREB-2; Cyclic AMP-responsive element-binding protein 2; HB16; cAMP response element-binding protein CRE-BP1; cAMP-dependent transcription factor ATF-2; cAMP-responsive element-binding protein 2", "protein_names_refseq": "cAMP response element-binding protein CRE-BP1; cAMP responsive element binding protein 2, formerly; cAMP-dependent transcription factor ATF-2; cyclic AMP-dependent transcription factor ATF-2 isoform 1; cyclic AMP-dependent transcription factor ATF-2; cyclic AMP-responsive element-binding protein 2; histone acetyltransferase ATF2", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); meconium aspiration syndrome (Disease Ontology:DOID:11049); Pick's disease (Disease Ontology:DOID:11870); Huntington's disease (Disease Ontology:DOID:12858); glaucoma (Disease Ontology:DOID:1686); transient cerebral ischemia (Disease Ontology:DOID:224); osteochondrodysplasia (Disease Ontology:DOID:2256); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:1386); (R-HSA-2151201); (R-HSA-3214847); (R-HSA-450341); (R-HSA-6796648); (R-HSA-8943724); (R-HSA-9018519); (R-HSA-9031628); (R-HSA-9633012); (R-HSA-9707616); (R-HSA-9931509)", "pathway_count": 11, "publication_count": 485, "publication_id_list": "10085140;10092462;10198158;10203854;10381005;10381560;10412986;10475063;10500157;10518804;10611221;10611312;10643692;10656257;10713165;10734128;10777545;10786633;10821277;10826704;10828826;10872467;10873660;10878576;10882540;10982836;10984481;10984493;11010967;11018027;11018254;11027551;11034064;11078583;11103799;11136970;11165043;11237011;11259586;11280768;11331872;11340167;11343657;11345900;11350971;11378386;11387216;11410592;11452016;11545734;11567222;11581164;11677247;11682626;11691921;11755530;11781575;11809803;11840323;11932306;11956230;11959846;11971958;11988847;12110590;12130498;12356737;12374852;12377782;12399542;12498683;12511571;12511643;12563009;12612073;12745923;12833146;12959972;1377233;1400365;14522948;14597720;14630918;14631847;14675539;14969744;15001666;15102911;15105425;15161978;15175654;15192015;15276198;15282324;15302935;15313887;15343269;15345050;15385533;15449318;15514030;15542842;15620361;15665827;15684387;1570299;15733869;15761026;15775988;15781252;15781865;15836632;15880109;15916964;15986123;16009131;16026328;16034366;16046058;16049073;16079181;16079853;16087863;16113099;16136673;16187211;16221685;16260776;16287845;1630819;16339507;16387653;16407550;16418168;16484497;16574654;16601071;1661585;16676006;16702404;16732277;16788062;16890199;16908542;16911507;16959974;16980581;16989641;17013392;17031457;17088210;17088211;17088212;17267404;17277772;17437997;17463000;17495528;17510434;17590016;17632064;17637753;17666587;17690249;17715127;17726049;17873065;17898216;17923681;17974977;18006707;18037887;18056528;18088355;18160048;18172008;18187655;18215119;18219272;18220336;18256232;18285520;18322535;1833716;18343819;18358809;18381289;18391013;18397884;18456662;18476782;18487508;18524893;18533032;1861162;18623064;18669648;18677098;18680753;18762174;18767875;18805503;19001277;19001364;19020303;19061646;19098913;19116276;19176525;19187765;19193899;19194657;19274700;19295514;19321454;19356719;19383337;19413330;19417006;19440552;19647037;19651622;19690332;19710360;19718048;19822663;19884659;19926875;19951946;20018852;20068231;20140229;2017159;20178980;20219941;20220130;20233713;20361218;2040600;20498280;20506119;20516213;2052361;20562914;20570965;20581824;20682797;2072895;20817722;21057636;2109185;21098032;21106759;21151129;21289308;21296815;21326363;21406692;21445275;21479263;21486943;21573489;21621608;21628546;2181374;21835891;21878914;21934649;21940756;22012619;22053691;22056668;22065583;22128185;22265404;22275354;22302795;22304920;2237820;22492511;22545144;22685333;22704330;22988298;23145106;23172872;23186163;23192763;2320002;23269699;23287862;23303788;23403292;23435229;23589174;23723241;23906331;24060757;24118792;24167369;24196956;24275569;24371278;24413065;24554720;24662513;24718924;24735615;24854081;24885040;24966171;24973012;24982422;24998469;25041846;25248477;2529117;25296600;25365482;2539258;25429106;25433557;25542856;25545367;25561469;25569790;25576301;25633194;25663755;25674852;25712099;25728608;25728676;25728767;25748042;26018600;26056233;26153859;26204489;26225425;26462610;26479350;2676516;26883894;26910647;27041596;27062924;27128622;27220739;27526673;27754849;27886276;28076410;28111073;28275114;28286024;28539435;28832583;28904123;28918037;2919170;29237092;29242379;29351928;29413899;29557506;29559111;29632046;30059200;30429286;3045126;30804176;30833945;31072823;31154438;3127059;31492838;31530632;31748741;31844290;32157095;32354867;32387766;32488085;32502341;32695117;3281094;32897882;32938616;32938750;32983136;32993798;33188182;3345742;33717175;33968037;3498214;35051231;35132862;35254053;35494241;35513511;3672127;3677090;37421203;37541260;37816820;38104370;38383842;39531497;7535770;7551568;7559524;7592934;7595538;7608156;7624335;7629110;7737129;7737130;7777577;7799916;7823924;7824938;7857651;7871435;7876254;7923378;7935485;7937828;8090221;8090222;8108407;8195246;8197458;8248782;8333869;8336711;8413279;8415693;8419924;8483478;8576248;8583621;8622974;8668170;8756618;8846918;8855261;8876171;8887638;8918830;9029150;9030721;9032251;9058782;9063748;9079689;9084409;9144434;9178750;9201922;9211906;9286700;9338790;9343422;9388265;9390517;9418898;9427644;9430721;9436983;9558366;9611253;9622090;9671459;9722618;9731700;9748258;9770464;9774344;9808461;9822744;9858769;9880483", "class_list": "", "function": "Data demonstrate that the protein kinase ATM phosphorylates ATF2 on serines 490 and 498 following ionizing radiation (IR)., [RefSeq, PubMed]; Human umbilical cord mesenchymal stem cell-derived exosomes loaded miR-451a targets ATF2 to improve rheumatoid arthritis. Erratum:[Int Immunopharmacol. 2025 Dec 3;166:115619. doi: 10.1016/j.intimp.2025.115619. PMID: 41046222], [RefSeq, PubMed]; MAP4K4 and WT1 mediate SOX6-induced cellular senescence by synergistically activating the ATF2-TGFbeta2-Smad2/3 signaling pathway in cervical cancer., [RefSeq, PubMed]; The ATF2/miR-3913-5p/CREB5 axis is involved in the cell proliferation and metastasis of colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The transcription factor ATF2 promotes gastric cancer progression by activating the METTL3/cyclin D1 pathway., [RefSeq, PubMed]; This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions This protein binds to the cAMP-responsive element (CRE), an octameric palindrome. It forms a homodimer or a heterodimer with c-Jun and stimulates CRE-dependent transcription. This protein is also a histone acetyltransferase (HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent a class of sequence-specific factors that activate transcription by direct effects on chromatin components. The encoded protein may also be involved in cell's DNA damage response independent of its role in transcriptional regulation. Several alternatively spliced transcript variants have been found for this gene [provided by RefSeq, Jan 2014]., [RefSeq]; Transcriptional activator which regulates the transcription of various genes, including those involved in anti-apoptosis, cell growth, and DNA damage response. Dependent on its binding partner, binds to CRE (cAMP response element) consensus sequences (5'-TGACGTCA-3') or to AP-1 (activator protein 1) consensus sequences (5'-TGACTCA-3'). In the nucleus, contributes to global transcription and the DNA damage response, in addition to specific transcriptional activities that are related to cell development, proliferation and death. In the cytoplasm, interacts with and perturbs HK1- and VDAC1-containing complexes at the mitochondrial outer membrane, thereby impairing mitochondrial membrane potential, inducing mitochondrial leakage and promoting cell death. The phosphorylated form (mediated by ATM) plays a role in the DNA damage response and is involved in the ionizing radiation (IR)-induced S phase checkpoint control and in the recruitment of the MRN complex into the IR-induced foci (IRIF). Exhibits histone acetyltransferase (HAT) activity which specifically acetylates histones H2B and H4 in vitro (PubMed:10821277). In concert with CUL3 and RBX1, promotes the degradation of KAT5 thereby attenuating its ability to acetylate and activate ATM. Can elicit oncogenic or tumor suppressor activities depending on the tissue or cell type., [UniProtKB, PubMed, PubMed, PubMed, PubMed, 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": 14, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 14, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 14, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 42, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 9, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "A1L3Z2;A4D7U4;A4D7U5;A4D7V1;D3DPE9;G8JLM5;Q13000;Q3B7B7;Q4ZFU9;Q53RY2;Q8TAR1;Q96JT8", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion 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:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane;GO:0000785 chromatin", "go_biological_process": "GO:0003360 brainstem development;GO:0021754 facial nucleus development;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001701 in utero embryonic development;GO:0001889 liver development", "synthesized_glycan_count": 0, "hit_score": 50.2, "record_id": "P15336-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17544-6", "uniprot_id": [ { "id": "ATF7_HUMAN", "url": "https://www.uniprot.org/uniprot/P17544", "type": "external" } ], "mass": 51757.0, "length": 483, "protein_name": "Cyclic AMP-dependent transcription factor ATF-7", "gene_name": "ATF7", "organism": "Human", "refseq_name": "cyclic AMP-dependent transcription factor ATF-7 isoform 3", "refseq_ac": [ { "id": "NP_001123532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123532", "type": "external" } ], "gene_names_uniprotkb": "ATF7; ATFA", "gene_names_refseq": "ATF7; ATFA", "protein_names_uniprotkb": "Cyclic AMP-dependent transcription factor ATF-7; Activating transcription factor 7; Transcription factor ATF-A; cAMP-dependent transcription factor ATF-7", "protein_names_refseq": "cyclic AMP-dependent transcription factor ATF-7 isoform 3; cyclic AMP-dependent transcription factor ATF-7; transcription factor ATF-A", "tax_id": 9606, "disease": "colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:11016)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "10376527;15735663;1694576;17081983;17264123;17322306;1827203;18452278;18669648;18767875;18950637;19413330;19651622;19664995;20068231;21858082;23186163;23301498;23481700;24275569;25545367;25576301;25892735;26375851;27920218;28218747;28657654;28832583;29237092;29351928;29490055;30059200;30315122;30379171;30620550;30826729;31092671;31492838;32157095;32161166;32938616;32938750;32983136;33214551;33298915;33592498;33717175;33936100;33968037;34019948;34171305;34787047;35051231;35132862;35254053;35289036;35513511;35580925;36241641;37340703;38665916;39302247;39531497;39534244;40307207;40596516;8288576;8290251;8417352", "class_list": "", "function": "Acts as a dominant repressor of the E-selectin/NF-ELAM1/delta-A promoter., [UniProtKB]; Acts as a negative regulator, inhibiting both ATF2 and ATF7 transcriptional activities. It may exert these effects by sequestrating in the cytoplasm the Thr-53 phosphorylating kinase, preventing activation., [UniProtKB, PubMed]; LncRNA prostate cancer-associated transcript 18 upregulates activating transcription factor 7 to prevent metastasis of triple-negative breast cancer via sponging miR-103a-3p., [RefSeq, PubMed]; Stress-responsive chromatin regulator that plays a role in various biological processes including innate immunological memory, adipocyte differentiation or telomerase regulation (PubMed:29490055). In absence of stress, contributes to the formation of heterochromatin and heterochromatin-like structure by recruiting histone H3K9 tri- and di-methyltransferases thus silencing the transcription of target genes such as STAT1 in adipocytes, or genes involved in innate immunity in macrophages and adipocytes (By similarity). Stress induces ATF7 phosphorylation that disrupts interactions with histone methyltransferase and enhances the association with coactivators containing histone acetyltransferase and/or histone demethylase, leading to disruption of the heterochromatin-like structure and subsequently transcriptional activation (By similarity). In response to TNF, which is induced by various stresses, phosphorylated ATF7 and telomerase are released from telomeres leading to telomere shortening (PubMed:29490055). Also plays a role in maintaining epithelial regenerative capacity and protecting against cell death during intestinal epithelial damage and repair (By similarity)., [UniProtKB, 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": 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": 16, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A5D6Y4;B2RMP1;B4DQL4;Q13814;Q8IVR8;Q9UD83", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0051019 mitogen-activated protein kinase 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:0000785 chromatin;GO:0000781 chromosome, telomeric region", "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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "P17544-6", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15144-1", "uniprot_id": [ { "id": "ARPC2_HUMAN", "url": "https://www.uniprot.org/uniprot/O15144", "type": "external" } ], "mass": 34333.0, "length": 300, "protein_name": "Actin-related protein 2/3 complex subunit 2", "gene_name": "ARPC2", "organism": "Human", "refseq_name": "actin-related protein 2/3 complex subunit 2", "refseq_ac": [ { "id": "NP_005722", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005722", "type": "external" } ], "gene_names_uniprotkb": "ARPC2; ARC34; PRO2446", "gene_names_refseq": "ARC34; ARPC2; PNAS-139; PRO2446; p34-Arc", "protein_names_uniprotkb": "Actin-related protein 2/3 complex subunit 2; Arp2/3 complex 34 kDa subunit; p34-ARC", "protein_names_refseq": "ARP2/3 protein complex subunit 34; actin related protein 2/3 complex, subunit 2, 34kDa; actin-related protein 2/3 complex subunit 2; arp2/3 complex 34 kDa subunit; testis tissue sperm-binding protein Li 53e", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); silicosis (Disease Ontology:DOID:10325); melanoma (Disease Ontology:DOID:1909); invasive ductal carcinoma (Disease Ontology:DOID:3008); systemic scleroderma (Disease Ontology:DOID:418)", "pathway": " (hsa:10109); (R-HSA-2029482); (R-HSA-3928662); (R-HSA-5663213); (R-HSA-8856828); (R-HSA-9664422)", "pathway_count": 6, "publication_count": 301, "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;11741539;11747816;11804587;11829459;11854399;11877457;11877461;11889126;12055636;12057195;12105426;12189515;12213210;12213833;12235133;12447393;12546821;12665801;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;17158794;17188549;17202194;17308335;17440041;17494869;17512409;17540576;17548511;17609109;17681954;17762867;17765681;17978091;18070890;18093523;18388313;18391171;18446792;1847920;18790740;18981233;19092055;19287005;19296720;19458185;19536138;19553453;19575674;19603039;19608861;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;23481700;23536704;23675550;23823722;23861397;23891661;24130457;24186068;24581490;24714562;24715725;2474607;24789820;24966051;25107275;25303366;25341920;25576301;25645385;25880248;25892735;26042225;26154972;26375851;26403691;26728094;26811146;26992070;27090790;27397612;27452731;27600516;27846572;27862975;27920218;28218747;28228285;28446606;28467828;28510447;28514659;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;29925947;30315122;30379171;30410026;30429286;30779550;30833945;31154438;31217245;31387452;31530632;31844290;31848261;31998317;32128961;32157095;32350084;32357974;32387766;32470361;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34357683;34509645;34561969;34725712;34932366;35051231;35154160;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38665916;39990658;40914422;6146630;7478585;7848918;7877694;8524399;8552632;8809042;8812419;8986718;9092476;9100026;9230079;9427626;9428629;9600938;9635431;9705280;9736607;9799231;9843499;9883880;9885284", "class_list": "", "function": "Actin-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility. Seems to contact the mother actin filament. In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA. The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Arp2/3 and Mena/VASP Require Profilin 1 for Actin Network Assembly at the Leading Edge., [RefSeq, PubMed]; Functions as actin-binding 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, UniProtKB]; Study provides evidence that the 5'-UTR1 of ARPC2 has internal ribosome entry site activity and regulates translation during stressful cellular conditions such as high cell density., [RefSeq, PubMed]; This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p34 subunit, has yet to be determined. Two alternatively spliced variants have been characterized to date. Additional alternatively spliced variants have been described but their full length nature 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q92801;Q9P1D4", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005200 structural constituent of cytoskeleton", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005768 endosome;GO:0005829 cytosol", "go_biological_process": "GO:0070358 actin polymerization-dependent cell motility;GO:0030041 actin filament polymerization;GO:0034314 Arp2/3 complex-mediated actin nucleation;GO:0010592 positive regulation of lamellipodium assembly", "synthesized_glycan_count": 0, "hit_score": 30.4, "record_id": "O15144-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18848-1", "uniprot_id": [ { "id": "ATF4_HUMAN", "url": "https://www.uniprot.org/uniprot/P18848", "type": "external" } ], "mass": 38590.0, "length": 351, "protein_name": "Cyclic AMP-dependent transcription factor ATF-4", "gene_name": "ATF4", "organism": "Human", "refseq_name": "cyclic AMP-dependent transcription factor ATF-4", "refseq_ac": [ { "id": "NP_001666", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001666", "type": "external" } ], "gene_names_uniprotkb": "ATF4; CREB2; TXREB", "gene_names_refseq": "ATF4; CREB-2; CREB2; TAXREB67; TXREB", "protein_names_uniprotkb": "Cyclic AMP-dependent transcription factor ATF-4; Activating transcription factor 4; CREB-2; Cyclic AMP-responsive element-binding protein 2; Tax-responsive enhancer element-binding protein 67; TaxREB67; cAMP-dependent transcription factor ATF-4; cAMP-responsive element-binding protein 2", "protein_names_refseq": "DNA-binding protein TAXREB67; cAMP response element-binding protein 2; cAMP-dependent transcription factor ATF-4; cAMP-responsive element-binding protein 2; cyclic AMP-dependent transcription factor ATF-4; cyclic AMP-responsive element-binding protein 2; tax-responsive enhancer element B67; tax-responsive enhancer element-binding protein 67", "tax_id": 9606, "disease": "prostate carcinoma (Disease Ontology:DOID:10286); borna disease (Disease Ontology:DOID:5154); pulmonary venoocclusive disease (Disease Ontology:DOID:5453)", "pathway": " (hsa:468); (R-HSA-380994); (R-HSA-381042); (R-HSA-381183); (R-HSA-9633012); (R-HSA-9648895); (R-HSA-9818027); (R-HSA-9818035)", "pathway_count": 8, "publication_count": 186, "publication_id_list": "10026192;10706635;10733945;10821856;10958673;10982836;11018027;11163539;11237011;11238952;11241327;11309284;11677247;11691921;11907036;11960987;12234984;12235164;12370288;12506115;1400365;14630918;14742429;14973138;15109498;15314157;1534408;15385533;15448164;15520857;15590625;15728556;15775988;15781252;15911876;16026328;16219772;16288713;16314513;16682973;16687408;16912112;16931790;16989641;17140605;17234762;17267404;17684156;17726049;17942419;17956313;17996332;18055463;18285520;1847461;18477386;18664456;18840095;18940792;19028565;19273602;19413330;19608619;20022965;20068231;20361218;20423929;20460467;20873783;21087962;21136679;21408167;21775727;22052162;22424782;22544926;22667998;22802018;22819556;22974638;22978410;22995213;23027624;23123191;23269699;2377606;23876217;23975372;24041992;24714562;24715725;25002527;2516827;25218447;25576301;25645385;25931127;26086088;26154972;26482881;2663993;2664463;26811146;26992070;27100828;27321283;27526673;27543614;27629041;27653015;27756681;27920218;28228285;28814160;28832583;28834231;28904123;28985506;29242379;29393594;29413899;29493099;29557506;29632711;29693710;29786170;29789417;29959055;30315122;30424508;30484775;30524438;30551605;30804176;30833945;31023583;31154438;31217245;31444471;31530632;31597407;31844290;31937595;32132706;32132707;32157095;32284348;32357974;32387766;32488085;32502341;32601262;3260265;32897882;32938616;32983136;33043019;33141586;33298915;33384352;33392160;33462411;33592498;33774477;33968037;33981976;34211107;34509645;34561969;34932366;35051231;35561310;35580925;36010968;36241641;38192280;38844625;39053672;39227800;39388305;7959763;8336711;9153226;9211906;9240432;9837962", "class_list": "", "function": "(Microbial infection) Binds to a Tax-responsive enhancer element in the long terminal repeat of HTLV-I., [UniProtKB, PubMed]; ATF4 inhibits tumor development and mediates p-GCN2/ASNS upregulation in colon cancer. Publication Status: Online-Only, [RefSeq, PubMed]; DNA methylation-driven gene FAM3D promotes colorectal cancer growth via the ATF4-SESN2-mTORC1 pathway., [RefSeq, PubMed]; Hyperactivation of ATF4/TGF-beta1 signaling contributes to the progressive cardiac fibrosis in Arrhythmogenic cardiomyopathy caused by DSG2 Variant. Publication Status: Online-Only, [RefSeq, PubMed]; PTX promotes breast cancer migration and invasion by recruiting ATF4 to upregulate FGF19., [RefSeq, PubMed]; This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromosome at q28 in a region containing a large inverted duplication. [provided by RefSeq, Sep 2011]., [RefSeq]; Transcription factor that binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3') and displays two biological functions, as regulator of metabolic and redox processes under normal cellular conditions, and as master transcription factor during integrated stress response (ISR) (PubMed:16682973, PubMed:17684156, PubMed:31023583, PubMed:31444471, PubMed:32132707). Binds to asymmetric CRE's as a heterodimer and to palindromic CRE's as a homodimer (By similarity). Core effector of the ISR, which is required for adaptation to various stress such as endoplasmic reticulum (ER) stress, amino acid starvation, mitochondrial stress or oxidative stress (PubMed:31023583, PubMed:32132707). During ISR, ATF4 translation is induced via an alternative ribosome translation re-initiation mechanism in response to EIF2S1/eIF-2-alpha phosphorylation, and stress-induced ATF4 acts as a master transcription factor of stress-responsive genes in order to promote cell recovery (PubMed:31023583, PubMed:32132706, PubMed:32132707). Promotes the transcription of genes linked to amino acid sufficiency and resistance to oxidative stress to protect cells against metabolic consequences of ER oxidation (By similarity). Activates the transcription of NLRP1, possibly in concert with other factors in response to ER stress (PubMed:26086088). Activates the transcription of asparagine synthetase (ASNS) in response to amino acid deprivation or ER stress (PubMed:11960987). However, when associated with DDIT3/CHOP, the transcriptional activation of the ASNS gene is inhibited in response to amino acid deprivation (PubMed:18940792). Together with DDIT3/CHOP, mediates programmed cell death by promoting the expression of genes involved in cellular amino acid metabolic processes, mRNA translation and the terminal unfolded protein response (terminal UPR), a cellular response that elicits programmed cell death when ER stress is prolonged and unresolved (By similarity). Activates the expression of COX7A2L/SCAF1 downstream of the EIF2AK3/PERK-mediated unfolded protein response, thereby promoting formation of respiratory chain supercomplexes and increasing mitochondrial oxidative phosphorylation (PubMed:31023583). Together with DDIT3/CHOP, activates the transcription of the IRS-regulator TRIB3 and promotes ER stress-induced neuronal cell death by regulating the expression of BBC3/PUMA in response to ER stress (PubMed:15775988). May cooperate with the UPR transcriptional regulator QRICH1 to regulate ER protein homeostasis which is critical for cell viability in response to ER stress (PubMed:33384352). In the absence of stress, ATF4 translation is at low levels and it is required for normal metabolic processes such as embryonic lens formation, fetal liver hematopoiesis, bone development and synaptic plasticity (By similarity). Acts as a regulator of osteoblast differentiation in response to phosphorylation by RPS6KA3/RSK2: phosphorylation in osteoblasts enhances transactivation activity and promotes expression of osteoblast-specific genes and post-transcriptionally regulates the synthesis of Type I collagen, the main constituent of the bone matrix (PubMed:15109498). Cooperates with FOXO1 in osteoblasts to regulate glucose homeostasis through suppression of beta-cell production and decrease in insulin production (By similarity). Activates transcription of SIRT4 (By similarity). Regulates the circadian expression of the core clock component PER2 and the serotonin transporter SLC6A4 (By similarity). Binds in a circadian time-dependent manner to the cAMP response elements (CRE) in the SLC6A4 and PER2 promoters and periodically activates the transcription of these genes (By similarity). Mainly acts as a transcriptional activator in cellular stress adaptation, but it can also act as a transcriptional repressor: acts as a regulator of synaptic plasticity by repressing transcription, thereby inhibiting induction and maintenance of long-term memory (By similarity). Regulates synaptic functions via interaction with DISC1 in neurons, which inhibits ATF4 transcription factor activity by disrupting ATF4 dimerization and DNA-binding (PubMed:31444471)., [UniProtKB, PubMed, PubMed, 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": 10, "reported_mutagensis": 10, "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": "Q96AQ3;Q9UH31", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0070982 L-asparagine metabolic process;GO:0035162 embryonic hemopoiesis;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 18.9, "record_id": "P18848-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6K1-1", "uniprot_id": [ { "id": "DNM3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6K1", "type": "external" } ], "mass": 101858.0, "length": 912, "protein_name": "DNA (cytosine-5)-methyltransferase 3A", "gene_name": "DNMT3A", "organism": "Human", "refseq_name": "DNA (cytosine-5)-methyltransferase 3A isoform c", "refseq_ac": [ { "id": "NP_001307821", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307821", "type": "external" } ], "gene_names_uniprotkb": "DNMT3A", "gene_names_refseq": "DNMT3A2; DNMT3A; HESJAS; M.HsaIIIA; TBRS", "protein_names_uniprotkb": "DNA (cytosine-5)-methyltransferase 3A; 2.1.1.-; 2.1.1.37; Cysteine methyltransferase DNMT3A; DNA MTase HsaIIIA; DNA methyltransferase HsaIIIA; Dnmt3a; M.HsaIIIA", "protein_names_refseq": "DNA (cytosine-5)-methyltransferase 3A isoform c; DNA (cytosine-5)-methyltransferase 3A; DNA (cytosine-5-)-methyltransferase 3 alpha; DNA MTase HsaIIIA; DNA cytosine methyltransferase 3A2; cysteine methyltransferase DNMT3A", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); Tatton-Brown-Rahman syndrome (Disease Ontology:DOID:0112339); stomach cancer (Disease Ontology:DOID:10534); lung cancer (Disease Ontology:DOID:1324); prostatitis (Disease Ontology:DOID:14654); congenital heart disease (Disease Ontology:DOID:1682); endometriosis of uterus (Disease Ontology:DOID:288); endometriosis (Disease Ontology:DOID:289); middle cerebral artery infarction (Disease Ontology:DOID:3525); lung carcinoma (Disease Ontology:DOID:3905); T-cell acute lymphoblastic leukemia (Disease Ontology:DOID:5603); hepatocellular carcinoma (Disease Ontology:DOID:684); chronic myeloid leukemia (Disease Ontology:DOID:8552); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); acute myeloid leukemia (Disease Ontology:DOID:9119); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); Heyn-Sproul-Jackson syndrome (MONDO:MONDO:0032882)", "pathway": " (hsa:1788); (R-HSA-212300); (R-HSA-3214858); (R-HSA-4655427); (R-HSA-5334118); (R-HSA-9710421); (R-HSA-9845323)", "pathway_count": 7, "publication_count": 162, "publication_id_list": "10325416;10433969;10551868;11237011;11341840;11448779;11735126;11747826;11751582;11756452;12138111;12145218;12351676;12435631;12481029;15099518;15105426;15485929;15861382;16357870;16431907;16682412;16829525;17081983;17200670;17215844;17673620;17687327;17713477;17898714;18079182;18223688;18302924;18346456;18404153;18669648;18762900;18772889;18945682;18974356;19026781;19234465;19413330;19450230;19571010;19664995;19834512;20068231;20075857;20123894;20630873;20838592;20841325;20871592;20937877;20951943;20974918;21067377;21163962;21170310;21316606;21378119;21406692;21489993;21518476;21706000;21720545;21774791;21777816;21808299;21808300;21828135;21979949;22064703;22071137;22086334;22231400;22323599;22348533;22466170;23022729;23161542;23186163;23326524;23431328;23679895;23752590;24074865;24368767;24614070;24656771;24714562;25554589;25576301;25645385;25994761;26154972;26290145;26992070;27317772;27344947;27600516;27701732;27846572;27991732;28404884;28418922;28432085;28514659;28767575;28832583;28834231;28904123;28941052;29242379;29393594;29417611;29493099;29508533;29557506;29632046;29769354;29786170;30429286;30478443;30779550;30923826;30993897;31086175;31291378;31844290;31848261;31998317;32051553;32157095;32188940;32387766;32488085;32502341;32522876;32897882;32938616;33479501;33592498;33717175;34087483;34171305;34509645;34932366;35051231;35580925;36228153;36241641;36284347;37938771;38359823;38845031;38926973;38951697;39097288;39196936;9642256", "class_list": "", "function": "Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown-Rahman syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Cancer-associated DNA hypermethylation of Polycomb targets requires DNMT3A dual recognition of histone H2AK119 ubiquitination and the nucleosome acidic patch., [RefSeq, PubMed]; CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. [provided by RefSeq, Mar 2016]., [RefSeq]; KDM1A, a potent and selective target, for the treatment of DNMT3A-deficient non-small cell lung cancer., [RefSeq, PubMed]; Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development (PubMed:12138111, PubMed:16357870, PubMed:30478443). DNA methylation is coordinated with methylation of histones (PubMed:12138111, PubMed:16357870, PubMed:30478443). It modifies DNA in a non-processive manner and also methylates non-CpG sites (PubMed:12138111, PubMed:16357870, PubMed:30478443). May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1 (By similarity). Plays a role in paternal and maternal imprinting (By similarity). Required for methylation of most imprinted loci in germ cells (By similarity). Acts as a transcriptional corepressor for ZBTB18 (By similarity). Recruited to trimethylated 'Lys-36' of histone H3 (H3K36me3) sites (By similarity). Can actively repress transcription through the recruitment of HDAC activity (By similarity). Also has weak auto-methylation activity on Cys-710 in absence of DNA (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; [Relationship between DTA Mutations and Thromboembolism in Patients with Myeloproliferative Neoplasms]., [RefSeq, PubMed]; [Research progress on DNMT3A gene expression in Acute myeloid leukemia]. 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": 9, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 58, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 17, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E9PEB8;Q86TE8;Q86XF5;Q8IZV0;Q8WXU9", "ec_number_list": [ { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.37", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "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": "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": "2.1.1.356", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.356", "type": "external" } ], "go_molecular_function": "GO:0003886 DNA (cytosine-5-)-methyltransferase activity;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000775 chromosome, centromeric region;GO:0016363 nuclear matrix", "go_biological_process": "GO:1900039 positive regulation of cellular response to hypoxia;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0010288 response to lead ion;GO:0045892 negative regulation of DNA-templated transcription;GO:0071456 cellular response to hypoxia", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q9Y6K1-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05519-1", "uniprot_id": [ { "id": "SRS11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05519", "type": "external" } ], "mass": 53542.0, "length": 484, "protein_name": "Serine/arginine-rich splicing factor 11", "gene_name": "SRSF11", "organism": "Human", "refseq_name": "serine/arginine-rich splicing factor 11 isoform 2", "refseq_ac": [ { "id": "NP_001177916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177916", "type": "external" } ], "gene_names_uniprotkb": "SRSF11; SFRS11", "gene_names_refseq": "NET2; SFRS11; SRSF11; dJ677H15.2; p54", "protein_names_uniprotkb": "Serine/arginine-rich splicing factor 11; Arginine-rich 54 kDa nuclear protein; Splicing factor, arginine/serine-rich 11; p54", "protein_names_refseq": "SR splicing factor 11; arginine-rich 54 kDa nuclear protein; serine/arginine-rich splicing factor 11 isoform 2; serine/arginine-rich splicing factor 11; splicing factor p54; splicing factor, arginine/serine-rich 11", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:9295); (R-HSA-159236); (R-HSA-72163); (R-HSA-72187); (R-HSA-72203); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 237, "publication_id_list": "10228171;10323864;10489353;10606266;10668806;10669729;10882114;11014198;11060040;11073998;11101529;11233976;11237011;11256625;11259411;11259602;11579093;11739738;11747608;11756420;11979277;11991638;12093754;12176931;12411573;12414731;12477934;12871933;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15565158;15998806;16314397;16314458;16809785;17000901;17081983;17095540;17128255;17190602;17322306;17332742;17606899;17924679;17984224;18212344;18288197;18322460;18364396;18411249;18423201;18452278;18491316;18593880;18669648;18707149;18767875;18957205;1896467;18991276;19103666;19165350;19217410;19413330;19415658;19536130;19651622;19664995;19690332;19691289;19836239;20068231;20129943;20166139;20423332;20573985;20695905;20844015;20980672;21295486;21406692;21536652;2176635;21911577;21947206;22110043;22207203;22365833;22813749;22893130;22928037;22959432;22961380;23186163;23222130;23236153;23299939;23301498;23345524;23481700;23826332;23874216;24076191;24149845;24196718;24244187;24275569;24304693;24316715;24407421;24448447;24715725;24737827;24914973;24981863;25301780;25301781;25555158;25576301;2558966;25662211;25836925;26092250;26154972;26385511;26420826;26969736;26992070;27108190;27377154;27459055;27683217;27846572;27920218;28062851;28076346;28096519;28228285;28502770;28510447;28514659;28781166;28832583;28834231;28904123;28911096;29186539;29242379;29274231;29301961;29360106;29361316;29508533;29557506;29632711;2963332;29786170;29902443;30139799;30257008;30315122;30315277;30379171;30429286;30599162;30705154;30728453;30765414;30779550;30975767;31154438;31409651;31530632;31844290;31848261;32119511;32157095;32179686;32329775;32357974;32387766;32488085;32494006;32816001;32897882;32938616;33141586;33177556;33214551;33243851;33298915;33446560;33465208;33592498;33936100;33968037;33981976;34019948;34087483;34229054;34301950;34509645;34822310;34932366;35051231;35138101;35177536;35215846;35289036;35385551;35580925;36284347;36394206;37013774;37217939;3757028;40596516;8352591;8566756;8608946;9016565;9242493;9409616;9512519;9524131;9539711;9618489;9659921;9660949;9671485;9701291;9731529", "class_list": "", "function": "Alternative splicing of HSPA12A pre-RNA by SRSF11 contributes to metastasis potential of colorectal cancer., [RefSeq, PubMed]; METTL3-mediated downregulation of splicing factor SRSF11 is associated with carcinogenesis and poor survival of cancer patients., [RefSeq, PubMed]; May function in pre-mRNA splicing., [UniProtKB]; This gene encodes 54-kD nuclear protein that contains an arginine/serine-rich region similar to segments found in pre-mRNA splicing factors. Although the function of this protein is not yet known, structure and immunolocalization data suggest that it may play a role in pre-mRNA processing. Alternative splicing results in multiple transcript variants encoding different proteins. In addition, a pseudogene of this gene has been found on chromosome 12.[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": 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": 34, "reported_mutagensis": 0, "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": "Q5T758;Q8IWE6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 24.4, "record_id": "Q05519-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6A5-1", "uniprot_id": [ { "id": "TACC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6A5", "type": "external" } ], "mass": 90360.0, "length": 838, "protein_name": "Transforming acidic coiled-coil-containing protein 3", "gene_name": "TACC3", "organism": "Human", "refseq_name": "transforming acidic coiled-coil-containing protein 3 isoform 1", "refseq_ac": [ { "id": "NP_006333", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006333", "type": "external" } ], "gene_names_uniprotkb": "TACC3; ERIC1", "gene_names_refseq": "ERIC-1; ERIC1; TACC3; Tacc4; maskin", "protein_names_uniprotkb": "Transforming acidic coiled-coil-containing protein 3; ERIC-1", "protein_names_refseq": "transforming acidic coiled-coil-containing protein 3 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10460); (R-HSA-9013507); (R-HSA-9604323)", "pathway_count": 3, "publication_count": 133, "publication_id_list": "10079256;10366448;11237011;11298601;14767476;15302935;15533827;16964243;17545617;17924679;18212344;18220336;18669648;19208840;19413330;19415658;19651622;19664994;19664995;19690332;20058876;20068231;20566684;21297582;21406692;21872626;21993680;22898188;23186163;23301498;23481700;23532825;23861900;23918938;24366607;24714562;24715725;24842903;25125655;25356737;25418920;25576301;25596274;25645385;25740432;25892735;26134678;26154972;26375851;26728094;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29510984;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30524438;30568303;30779550;30833945;31154438;31217245;31222486;31373491;31530632;31823729;31844290;31848261;31937595;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34433824;34509645;34932366;35051231;35251023;35561310;35580925;36010968;36215666;36241641;36284347;36864125;37341435;38084010;38480537;40307207", "class_list": "", "function": "Cellular senescence gene TACC3 associated with colorectal cancer risk via genetic and DNA methylated alteration., [RefSeq, PubMed]; Non-Small Cell Lung Carcinoma With Clear Cell Features and FGFR3::TACC3 Gene Rearrangement : Clinicopathologic and Next Generation Sequencing Study of 7 Cases., [RefSeq, PubMed]; Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors (By similarity). 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. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:21297582, PubMed:23532825). May be involved in the control of cell growth and differentiation. May contribute to cancer (PubMed:14767476)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; TACC3 is an independent prognostic marker, and knockdown of TACC3 enhances the efficacy of CDK1 inhibitor RO3306 in liver cancer cells., [RefSeq, PubMed]; Targeting TACC3 represents a novel vulnerability in highly aggressive breast cancers with centrosome amplification., [RefSeq, PubMed]; This gene encodes a member of the transforming acidic colied-coil protein family. The encoded protein is a motor spindle protein that may play a role in stabilization of the mitotic spindle. This protein may also play a role in growth a differentiation of certain cancer cells. [provided by RefSeq, Nov 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": 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": 19, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 16, "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": "Q2NKK4;Q3KQS5;Q9UMQ1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome;GO:0005829 cytosol;GO:0034451 centriolar satellite;GO:0036064 ciliary basal body", "go_biological_process": "GO:1902850 microtubule cytoskeleton organization involved in mitosis;GO:0051301 cell division;GO:0021987 cerebral cortex development;GO:0060236 regulation of mitotic spindle organization;GO:0007052 mitotic spindle organization", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "Q9Y6A5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61586-1", "uniprot_id": [ { "id": "RHOA_HUMAN", "url": "https://www.uniprot.org/uniprot/P61586", "type": "external" } ], "mass": 21768.0, "length": 193, "protein_name": "Transforming protein RhoA", "gene_name": "RHOA", "organism": "Human", "refseq_name": "transforming protein RhoA isoform 1 precursor", "refseq_ac": [ { "id": "NP_001300870", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001300870", "type": "external" } ], "gene_names_uniprotkb": "RHOA; ARH12; ARHA; RHO12", "gene_names_refseq": "ARH12; ARHA; EDFAOB; RHO12; RHOA; RHOH12", "protein_names_uniprotkb": "Transforming protein RhoA; 3.6.5.2; Rho cDNA clone 12; h12", "protein_names_refseq": "Aplysia ras-related homolog 12; epididymis secretory sperm binding protein; oncogene RHO H12; small GTP binding protein RhoA; transforming protein RhoA isoform 1 precursor; transforming protein RhoA", "tax_id": 9606, "disease": "fetal alcohol syndrome (Disease Ontology:DOID:0050665); peroxisomal biogenesis disorder (Disease Ontology:DOID:0080377); hypertension (Disease Ontology:DOID:10763); membranous glomerulonephritis (Disease Ontology:DOID:10976); urinary bladder cancer (Disease Ontology:DOID:11054); primary biliary cholangitis (Disease Ontology:DOID:12236); neurodegenerative disease (Disease Ontology:DOID:1289); breast cancer (Disease Ontology:DOID:1612); multiple sclerosis (Disease Ontology:DOID:2377); asthma (Disease Ontology:DOID:2841); breast carcinoma (Disease Ontology:DOID:3459); ovarian carcinoma (Disease Ontology:DOID:4001); pulmonary hypertension (Disease Ontology:DOID:6432); ulcerative colitis (Disease Ontology:DOID:8577); colorectal cancer (Disease Ontology:DOID:9256); acute myocardial infarction (Disease Ontology:DOID:9408); obesity (Disease Ontology:DOID:9970); ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies (MONDO:MONDO:0032884)", "pathway": " (hsa:387); (R-HSA-114604); (R-HSA-193634); (R-HSA-198203); (R-HSA-209563); (R-HSA-2173791); (R-HSA-392451); (R-HSA-3928662); (R-HSA-3928663); (R-HSA-4086400); (R-HSA-416482); (R-HSA-416550); (R-HSA-416572); (R-HSA-4420097); (R-HSA-5625740); (R-HSA-5625900); (R-HSA-5625970); (R-HSA-5627117); (R-HSA-5663220); (R-HSA-5666185); (R-HSA-5689896); (R-HSA-6785631); (R-HSA-6798695); (R-HSA-8849471); (R-HSA-8980692); (R-HSA-8985586); (R-HSA-9013106)", "pathway_count": 27, "publication_count": 635, "publication_id_list": 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"class_list": "", "function": "(Microbial infection) Serves as a target for the yopT cysteine peptidase from Yersinia pestis, vector of the plague., [UniProtKB, PubMed, PubMed]; Genetic disruption of ATAT1 causes RhoA downregulation through abnormal truncation of C/EBPbeta., [RefSeq, PubMed]; IL-8 promotes lens capsular residual cells migration by down-regulates expression of E-cadherin and ZO-1 via the CXCR1/2-NF-kappaB-RhoA signal pathway., [RefSeq, PubMed]; Intrinsically Disordered Membrane Anchors of Rheb, RhoA, and DiRas3 Small GTPases: Molecular Dynamics, Membrane Organization, and Interactions., [RefSeq, PubMed]; Small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. Mainly associated with cytoskeleton organization, in active state binds to a variety of effector proteins to regulate cellular responses such as cytoskeletal dynamics, cell migration and cell cycle (PubMed:23871831). Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers (PubMed:31570889, PubMed:8910519, PubMed:9121475). Involved in a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis (PubMed:12900402, PubMed:16236794). Plays an essential role in cleavage furrow formation. Required for the apical junction formation of keratinocyte cell-cell adhesion (PubMed:20974804, PubMed:23940119). Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly (PubMed:19934221). The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization (PubMed:20937854). Involved in the reorientation of endothelial cells and their actin stress fibers in response to cellular mechantransduction-mediated activation by ARHGEF40 (By similarity). Regulates KCNA2 potassium channel activity by reducing its location at the cell surface in response to CHRM1 activation; promotes KCNA2 endocytosis (PubMed:19403695, PubMed:9635436). Acts as an allosteric activator of guanine nucleotide exchange factor ECT2 by binding in its activated GTP-bound form to the PH domain of ECT2 which stimulates the release of PH inhibition and promotes the binding of substrate RHOA to the ECT2 catalytic center (PubMed:31888991). May be an activator of PLCE1 (PubMed:16103226). In neurons, involved in the inhibition of the initial spine growth. Upon activation by CaMKII, modulates dendritic spine structural plasticity by relaying CaMKII transient activation to synapse-specific, long-term signaling (By similarity). Acts as a regulator of platelet alpha-granule release during activation and aggregation of platelets (By similarity). When activated by DAAM1 may signal centrosome maturation and chromosomal segregation during cell division. May also be involved in contractile ring formation during cytokinesis., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; SphK1 deficiency ameliorates the development of atherosclerosis by inhibiting the S1P/S1PR3/Rhoa/ROCK pathway., [RefSeq, PubMed]; This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. Overexpression of this gene is associated with tumor cell proliferation and metastasis. 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": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "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": 11, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 40, "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": "P06749;Q53HM4;Q5U024;Q9UDJ0;Q9UEJ4", "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": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.2.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.20", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.6.1.5", "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": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "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": "3.1.2.-", "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": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.11.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.30", "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": "3.6.4.-", "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": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "5.6.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.3", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "1.3.1.70", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.70", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "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": "3.6.1.42", "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:0019901 protein kinase binding;GO:0017022 myosin binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005768 endosome;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:1903427 negative regulation of reactive oxygen species biosynthetic process;GO:0043297 apical junction assembly;GO:0051893 regulation of focal adhesion assembly;GO:1990869 cellular response to chemokine;GO:0043931 ossification involved in bone maturation", "synthesized_glycan_count": 0, "hit_score": 64.0, "record_id": "P61586-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100010000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16220-2", "uniprot_id": [ { "id": "CREB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P16220", "type": "external" } ], "mass": 35136.0, "length": 327, "protein_name": "Cyclic AMP-responsive element-binding protein 1", "gene_name": "CREB1", "organism": "Human", "refseq_name": "cyclic AMP-responsive element-binding protein 1 isoform A", "refseq_ac": [ { "id": "NP_004370", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004370", "type": "external" } ], "gene_names_uniprotkb": "CREB1", "gene_names_refseq": "CREB-1; CREB1; CREB", "protein_names_uniprotkb": "Cyclic AMP-responsive element-binding protein 1; CREB-1; cAMP-responsive element-binding protein 1", "protein_names_refseq": "active transcription factor CREB; cAMP-response element-binding protein-1; cyclic AMP-responsive element-binding protein 1 isoform A; cyclic AMP-responsive element-binding protein 1; cyclic adenosine 3',5'-monophosphate response element binding protein; cyclic adenosine 3',5'-monophosphate response element-binding protein CREB; transactivator protein", "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); stomach cancer (Disease Ontology:DOID:10534); hypertension (Disease Ontology:DOID:10763); amnestic disorder (Disease Ontology:DOID:10914); obsessive-compulsive disorder (Disease Ontology:DOID:10933); opioid abuse (Disease Ontology:DOID:11206); sciatic neuropathy (Disease Ontology:DOID:11446); Pick's disease (Disease Ontology:DOID:11870); Huntington's disease (Disease Ontology:DOID:12858); lung cancer (Disease Ontology:DOID:1324); 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); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); morphine dependence (Disease Ontology:DOID:2560); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); middle cerebral artery infarction (Disease Ontology:DOID:3525); lung carcinoma (Disease Ontology:DOID:3905); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); lung small cell carcinoma (Disease Ontology:DOID:5409); schizophrenia (Disease Ontology:DOID:5419); congestive heart failure (Disease Ontology:DOID:6000); amphetamine abuse (Disease Ontology:DOID:670); cocaine abuse (Disease Ontology:DOID:809); vascular dementia (Disease Ontology:DOID:8725); substance dependence (Disease Ontology:DOID:9973); drug dependence (Disease Ontology:DOID:9974); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976); histiocytoma, Angiomatoid fibrous (MONDO:MONDO:0012809)", "pathway": " (hsa:1385)", "pathway_count": 1, "publication_count": 113, "publication_id_list": "10.1074/mcp.M114.046862;10558990;11013247;11175347;11796524;11970864;11970866;12162494;12552083;12835716;1386673;14506290;14536081;15073328;15327282;15454081;15579595;15711594;15733869;15964553;16325578;16782881;16908542;17389598;17525332;17668895;17724745;18057713;1827531;1831258;18452278;18669648;18801732;1966745;20058876;20068231;20573984;20626350;20863279;21172805;2142528;2196176;22267179;22554507;23186163;23301498;23481700;23651431;24106266;24140293;24952642;25576301;25645385;25813380;26768311;27920218;28228285;28338624;28832583;29351928;29393594;29632711;2974179;30169966;30315122;30709903;30779550;31092671;31154438;31848261;32119511;32128390;32161166;32938616;32983136;33214551;33298915;33324330;33592498;33691108;33936100;33968037;33981976;34019948;34357683;34509645;35051231;35132862;35138101;35580925;36010968;37938771;38665916;38824257;38902472;39007896;39189982;39531497;40307207;40596516;7536740;7608156;7958915;8065343;8381074;8384857;8688081;8887554;9668047;9687510;9770464;9829964;9931297", "class_list": "", "function": "CREB activates the MafA promoter through proximal E-boxes and a CCAAT motif in pancreatic beta-cells. Publication Status: Online-Only, [RefSeq, PubMed]; CREB1 promotes expression of immune checkpoint HLA-E leading to immune escape in multiple myeloma., [RefSeq, PubMed]; Dual-Specificity Phosphatase 4 Promotes Malignant Features in Colorectal Cancer Through Cyclic-AMP Response Element Binding Protein/Protein Kinase CAMP-Activated Catalytic Subunit Beta Activation., [RefSeq, PubMed]; Phosphorylation-dependent transcription factor that stimulates transcription upon binding to the DNA cAMP response element (CRE), a sequence present in many viral and cellular promoters (By similarity). Transcription activation is enhanced by the TORC coactivators which act independently of Ser-119 phosphorylation (PubMed:14536081). Involved in different cellular processes including the synchronization of circadian rhythmicity and the differentiation of adipose cells (By similarity). Regulates the expression of apoptotic and inflammatory response factors in cardiomyocytes in response to ERFE-mediated activation of AKT signaling (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Silencing of CircTRIM25/miR-138-5p/CREB1 axis promotes chondrogenesis in osteoarthritis. Erratum:[Autoimmunity. 2024 Dec;57(1):2435720. doi: 10.1080/08916934.2024.2435720. PMID: 39621026], [RefSeq, PubMed]; This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds as a homodimer to the cAMP-responsive element, an octameric palindrome. The protein is phosphorylated by several protein kinases, and induces transcription of genes in response to hormonal stimulation of the cAMP pathway. Alternate splicing of this gene results in several transcript variants encoding different isoforms. [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": 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": 2, "reported_phosphosites": 32, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 36, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "P21934;Q6V963;Q9UMA7", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:1990763 arrestin family protein binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005759 mitochondrial matrix;GO:0030424 axon;GO:0000785 chromatin", "go_biological_process": "GO:1990910 response to hypobaric hypoxia;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0007613 memory", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "P16220-2", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04198-1", "uniprot_id": [ { "id": "MYCN_HUMAN", "url": "https://www.uniprot.org/uniprot/P04198", "type": "external" } ], "mass": 49561.0, "length": 464, "protein_name": "N-myc proto-oncogene protein", "gene_name": "MYCN", "organism": "Human", "refseq_name": "N-myc proto-oncogene protein isoform 2", "refseq_ac": [ { "id": "NP_001280160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280160", "type": "external" } ], "gene_names_uniprotkb": "MYCN; BHLHE37; NMYC", "gene_names_refseq": "FGLDS1; MODED; MPAPA; MYCNsORF; MYCNsPEP; MYCN; N-myc; NMYC; ODED; bHLHe37", "protein_names_uniprotkb": "N-myc proto-oncogene protein; Class E basic helix-loop-helix protein 37; bHLHe37", "protein_names_refseq": "N-myc proto-oncogene protein isoform 2; N-myc proto-oncogene protein; class E basic helix-loop-helix protein 37; neuroblastoma MYC oncogene; neuroblastoma-derived v-myc avian myelocytomatosis viral related oncogene; oncogene NMYC; v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog", "tax_id": 9606, "disease": "Feingold syndrome (Disease Ontology:DOID:0060464); megalencephaly-polydactyly syndrome (MONDO:MONDO:0958279)", "pathway": " (hsa:4613); (R-HSA-201556); (R-HSA-9764562); (R-HSA-9839394); (R-HSA-9909649)", "pathway_count": 5, "publication_count": 124, "publication_id_list": "11110708;11121404;11237011;11278720;11280786;11607835;11751994;11850821;12122009;12424201;12934099;1425701;14563642;14962911;15226403;15302935;15317731;15374880;15588951;15592455;15821734;15895073;15938644;16153455;16170336;16317043;16825495;16871283;16878150;16906565;16939498;17086210;17185414;17274988;17311883;17353907;17681947;18070884;18097461;18299279;18488021;18724359;18923524;18990089;19088198;19459784;20017904;20068231;20632993;20719933;21154129;21345110;22162641;22286764;22439933;23201355;23239810;23889739;24060861;24356251;24391509;24670165;24736079;24947326;25331893;25342631;25421750;25477524;26154972;26418745;26456864;26464158;26630010;26708155;26992070;27571165;27780853;27837025;27862975;27935099;28228285;2834684;2869488;28832583;29380702;29455642;29493099;29557506;29786170;29873274;2987858;29964125;30061385;3008339;30315122;30379171;30385408;30467960;30573562;30692217;31409900;31585938;31690716;31844290;32183950;32501498;32860047;32938616;33633747;33741928;34258104;34342803;3437890;34646012;34819673;3510398;36284347;37222488;37710961;38796108;38992040;39133652;8633037;9819383", "class_list": "", "function": "Existence of upstream ORF in MYCN transcripts leads to a new level of MYCN regulation. Publication Status: Online-Only, [RefSeq, PubMed]; Positively regulates the transcription of MYCNOS in neuroblastoma cells., [UniProtKB, PubMed]; Preclinical spheroid models identify BMX as a therapeutic target for metastatic MYCN nonamplified neuroblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Role of MYCN in retinoblastoma: A review of current literature. Review article, [RefSeq, PubMed]; The transcriptional co-repressor Runx1t1 is essential for MYCN-driven neuroblastoma tumorigenesis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. Multiple alternatively spliced transcript variants encoding different 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": 12, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 31, "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": "Q53XS5;Q6LDT9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0046983 protein dimerization activity;GO:0019900 kinase binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "P04198-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62070-1", "uniprot_id": [ { "id": "RRAS2_HUMAN", "url": "https://www.uniprot.org/uniprot/P62070", "type": "external" } ], "mass": 23400.0, "length": 204, "protein_name": "Ras-related protein R-Ras2", "gene_name": "RRAS2", "organism": "Human", "refseq_name": "ras-related protein R-Ras2 isoform b", "refseq_ac": [ { "id": "NP_001096139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001096139", "type": "external" } ], "gene_names_uniprotkb": "RRAS2; TC21", "gene_names_refseq": "NS12; RRAS2; TC21", "protein_names_uniprotkb": "Ras-related protein R-Ras2; 3.6.5.2; Ras-like protein TC21; Teratocarcinoma oncogene", "protein_names_refseq": "ras-like protein TC21; ras-related protein R-Ras2 isoform b; related RAS viral (r-ras) oncogene homolog 2; teratocarcinoma oncogene", "tax_id": 9606, "disease": "Costello syndrome (Disease Ontology:DOID:0050469); RASopathy (Disease Ontology:DOID:0080690); Noonan syndrome 12 (Disease Ontology:DOID:0112170); urinary bladder cancer (Disease Ontology:DOID:11054); ovarian cancer (Disease Ontology:DOID:2394)", "pathway": " (hsa:22800); (R-HSA-9696273)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10664463;11237011;11784792;11940653;12842009;15308774;15738000;17081983;17322306;18578522;18669648;18691976;18767875;18996843;19103606;19369195;19413330;19664994;19664995;20068231;20166139;20811643;2108320;23186163;23481700;24275569;24690281;26992070;28228285;28406396;28832583;28834231;29242379;29314611;29508533;30833945;31130282;31130285;31611695;31844290;31848261;31871319;32938616;33592498;33968037;34357683;34433824;35154160;35561310;36010968;36215666;36241641;37217939;37942564;38067115;38987766;39302247;39809765;8052619;9531558", "class_list": "", "function": "Characterization of Three Somatic Mutations in the 3'UTR of RRAS2 and Their Inverse Correlation with Lymphocytosis in Chronic Lymphocytic Leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; GTP-binding protein with GTPase activity, involved in the regulation of MAPK signaling pathway and thereby controlling multiple cellular processes (PubMed:31130282, PubMed:31130285, PubMed:39809765). Regulates craniofacial development (PubMed:31130282, PubMed:31130285)., [UniProtKB, PubMed, PubMed, PubMed]; The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma., [RefSeq, PubMed]; This gene encodes a member of the R-Ras subfamily of Ras-like small GTPases. The encoded protein associates with the plasma membrane and may function as a signal transducer. This protein may play an important role in activating signal transduction pathways that control cell proliferation. Mutations in this gene are associated with the growth of certain tumors. Pseudogenes of this gene are found on chromosomes 1 and 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]., [RefSeq]; Unmutated RRAS2 emerges as a key oncogene in post-partum-associated triple negative breast 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": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 9, "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": "B2R9Z3;B7Z5Z2;B7Z6C4;B7Z7H6;P17082", "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": "3.4.17.22", "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": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "1.2.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.94", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "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:0003925 G protein activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0016020 membrane", "go_biological_process": "GO:0007265 Ras protein signal transduction;GO:0001649 osteoblast differentiation;GO:0007163 establishment or maintenance of cell polarity;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "P62070-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15047-1", "uniprot_id": [ { "id": "SET1A_HUMAN", "url": "https://www.uniprot.org/uniprot/O15047", "type": "external" } ], "mass": 186034.0, "length": 1707, "protein_name": "Histone-lysine N-methyltransferase SETD1A", "gene_name": "SETD1A", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase SETD1A", "refseq_ac": [ { "id": "NP_055527", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055527", "type": "external" } ], "gene_names_uniprotkb": "SETD1A; KIAA0339; KMT2F; SET1A; SET1", "gene_names_refseq": "EPEDD; EPEO2; KMT2F; NEDSID; SETD1A; Set1A; Set1", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase SETD1A; 2.1.1.364; Lysine N-methyltransferase 2F; SET domain-containing protein 1A; Set1/Ash2 histone methyltransferase complex subunit SET1; hSET1A", "protein_names_refseq": "SET domain-containing protein 1A; hSET1A; histone-lysine N-methyltransferase SETD1A; lysine N-methyltransferase 2F; set1/Ash2 histone methyltransferase complex subunit SET1", "tax_id": 9606, "disease": "neurodevelopmental disorder with speech impairment and dysmorphic facies (Disease Ontology:DOID:0070417); early-onset epilepsy 2 (Disease Ontology:DOID:0070471); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:9739); (R-HSA-3214841); (R-HSA-8936459); (R-HSA-9772755)", "pathway_count": 4, "publication_count": 194, "publication_id_list": "10.1101/2023.09.13.557529;10617663;10949293;11237011;11959841;12123582;12130538;12393701;12453418;12482972;12483298;12540855;12576332;12670868;14536086;14636557;14690610;14992727;15145825;15199122;15235609;15964846;16118227;16199523;16227571;16239140;16253997;16292313;16519522;16628190;16682010;16805913;16829959;16878130;16892064;17021013;17081983;17355966;17500065;17544230;17578910;17612494;17671196;17707229;17925232;17998332;18172012;18316480;18452278;18598942;18669648;18829457;18829459;18838386;18838538;19103755;19114653;19124460;19187761;19413330;19509293;19556245;19651622;19664994;19690332;19808676;20018852;20068231;20230923;20305658;20339092;20575550;20716525;20876458;20961854;21106533;21124902;21129147;21131905;21131967;21135039;21196496;21220120;21252065;21725049;21740066;21779408;21832073;22099308;22266653;22327296;22544926;22652693;22665483;22777353;22843687;22939622;23178126;23186163;23481700;23508102;23995757;24244196;24275569;24368734;24680668;24715725;25561738;25576301;25593305;25645385;26010396;26324722;26886794;26992070;27563068;27698142;27760318;27846572;27893789;28182322;28398509;28832583;29138278;29242379;29351928;29393594;29493099;29508533;29557506;29632711;29786170;29897600;29937342;30059200;30315122;30379171;30397120;30429286;30620550;31092671;31154438;31197650;31400120;31485071;31492838;31544921;31844290;32119511;32157095;32161166;32265295;32346159;32357974;32387766;32502341;32574038;32938616;33141586;33214551;33298915;33657400;33717175;33912179;33968037;34012049;34019948;34171305;34509645;34846842;34933446;35033534;35051231;35132862;35138101;35190547;35254053;35289036;35439434;35561310;35580925;35705054;37030068;37541260;37581938;37918557;38003223;38665916;38838015;38989615;39531497;39534244;40307207;40596516", "class_list": "", "function": "BOD1L mediates chromatin binding and non-canonical function of H3K4 methyltransferase SETD1A., [RefSeq, PubMed]; HCF-1 was required for recruitment of the histone methyltransferases Set1 and MLL1, leading to histone H3K4 trimethylation and transcriptional activation., [RefSeq, PubMed]; Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism (PubMed:12670868, PubMed:25561738). Part of chromatin remodeling machinery, forms H3K4me1, H3K4me2 and H3K4me3 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:29937342, PubMed:31197650, PubMed:32346159). Responsible for H3K4me3 enriched promoters and transcriptional programming of inner mass stem cells and neuron progenitors during embryogenesis (By similarity) (PubMed:31197650). Required for H3K4me1 mark at stalled replication forks. Mediates FANCD2-dependent nucleosome remodeling and RAD51 nucleofilaments stabilization at reversed forks, protecting them from nucleolytic degradation (PubMed:29937342, PubMed:32346159). Does not methylate 'Lys-4' of histone H3 if the neighboring 'Lys-9' residue is already methylated (PubMed:12670868). Binds RNAs involved in RNA processing and the DNA damage response (PubMed:38003223)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; In Vivo and In Vitro Characterization of the RNA Binding Capacity of SETD1A (KMT2F). Publication Status: Online-Only, [RefSeq, PubMed]; SETD1A drives stemness by reprogramming the epigenetic landscape in hepatocellular carcinoma stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases., [RefSeq, PubMed]; The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily. [provided by RefSeq, Dec 2016]., [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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 18, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 18, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 18, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 63, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 24, "binding_glycan_count": 0, "secondary_ac_list": "A0A804HLA6;A6NP62;Q6PIF3;Q8TAJ6", "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.-", "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": "2.1.1.85", "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": "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": "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" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0008013 beta-catenin binding;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding;GO:0042800 histone H3K4 methyltransferase activity;GO:0140945 histone H3K4 monomethyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006974 DNA damage response;GO:0007420 brain development;GO:1902036 regulation of hematopoietic stem cell differentiation;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 21.6, "record_id": "O15047-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2M5-1", "uniprot_id": [ { "id": "KLH20_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2M5", "type": "external" } ], "mass": 67955.0, "length": 609, "protein_name": "Kelch-like protein 20", "gene_name": "KLHL20", "organism": "Human", "refseq_name": "kelch-like protein 20", "refseq_ac": [ { "id": "NP_055273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055273", "type": "external" } ], "gene_names_uniprotkb": "KLHL20; KLEIP; KLHLX", "gene_names_refseq": "KHLHX; KLEIP; KLHL20; KLHLX; NEDSZFB", "protein_names_uniprotkb": "Kelch-like protein 20; Kelch-like ECT2-interacting protein; Kelch-like protein X", "protein_names_refseq": "Kelch motif containing protein; kelch-like ECT2-interacting protein; kelch-like protein 20; kelch-like protein X", "tax_id": 9606, "disease": "neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities (Disease Ontology:DOID:0070713)", "pathway": " (hsa:27252); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 181, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14528312;14668487;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17395875;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;20058876;20389280;21447816;21463634;21670212;21778237;21840486;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24714562;24715725;24768539;24793695;24793696;25314029;25349211;25355947;25531226;25576301;25619834;25645385;26154972;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27846572;28115426;28832583;28904123;29153394;29242379;29437277;29557506;30379171;30429286;30610225;31092671;31279627;31844290;31848261;32005965;32157095;32284348;32357974;32387766;32488085;32502341;32938616;33141586;33392160;33444648;33537174;33592498;33717175;33912179;33968037;34087483;34171305;34185709;34932366;35051231;35154160;35580925;36010968;36214804;36284347;36581221;37217939;37938771;38513146;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "A 1.1-A degrees crystal structure of a KLHL20-DAPK1 complex reveals a hydrophobic pocket in KLHL20. DAPK1 helical turn inserts into the beta-propeller to contact all six Kelch repeats of KLHL20., [RefSeq, PubMed]; BTB-kelch protein KLEIP, a novel regulator of endothelial function during angiogenesis, controls the vascular endothelial growth factor (VEGF)-induced activation of Rho GTPases., [RefSeq, PubMed]; De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder., [RefSeq, PubMed]; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in interferon response and anterograde Golgi to endosome transport. The BCR(KLHL20) E3 ubiquitin ligase complex mediates the ubiquitination of DAPK1, leading to its degradation by the proteasome, thereby acting as a negative regulator of apoptosis (PubMed:20389280). The BCR(KLHL20) E3 ubiquitin ligase complex also specifically mediates 'Lys-33'-linked ubiquitination (PubMed:24768539). Involved in anterograde Golgi to endosome transport by mediating 'Lys-33'-linked ubiquitination of CORO7, promoting interaction between CORO7 and EPS15, thereby facilitating actin polymerization and post-Golgi trafficking (PubMed:24768539). Also acts as a regulator of endothelial migration during angiogenesis by controlling the activation of Rho GTPases. The BCR(KLHL20) E3 ubiquitin ligase complex acts as a regulator of neurite outgrowth by mediating ubiquitination and degradation of PDZ-RhoGEF/ARHGEF11 (PubMed:21670212). In case of tumor, the BCR(KLHL20) E3 ubiquitin ligase complex is involved in tumor hypoxia: following hypoxia, the BCR(KLHL20)complex mediates ubiquitination and degradation of PML, potentiating HIF-1 signaling and cancer progression (PubMed:21840486)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. [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": 6, "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": "B3KMA0;B4DUR0;Q5TZF2;Q5ZF45;Q9H457", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0004842 ubiquitin-protein transferase activity;GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:0019964 type II interferon binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0015629 actin cytoskeleton;GO:0030424 axon", "go_biological_process": "GO:0015031 protein transport;GO:0043066 negative regulation of apoptotic process;GO:0007010 cytoskeleton organization;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 18.4, "record_id": "Q9Y2M5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y295-1", "uniprot_id": [ { "id": "DRG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y295", "type": "external" } ], "mass": 40542.0, "length": 367, "protein_name": "Developmentally-regulated GTP-binding protein 1", "gene_name": "DRG1", "organism": "Human", "refseq_name": "developmentally-regulated GTP-binding protein 1", "refseq_ac": [ { "id": "NP_004138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004138", "type": "external" } ], "gene_names_uniprotkb": "DRG1; NEDD3", "gene_names_refseq": "DRG1; NEDD3; TANALS", "protein_names_uniprotkb": "Developmentally-regulated GTP-binding protein 1; 3.6.5.-; DRG-1; NEDD-3; Neural precursor cell expressed developmentally down-regulated protein 3; TRAFAC GTPase DRG1; Translation factor GTPase DRG1", "protein_names_refseq": "DRG-1; NEDD-3; TRAFAC GTPase DRG1; developmentally-regulated GTP-binding protein 1; neural precursor cell expressed developmentally down-regulated protein 3; neural precursor cell expressed, developmentally down-regulated 3; translation factor GTPase DRG1", "tax_id": 9606, "disease": "food allergy (Disease Ontology:DOID:3044); Crohn's disease (Disease Ontology:DOID:8778); Tan-Almurshedi syndrome (MONDO:MONDO:0957990)", "pathway": " (hsa:4733); (R-HSA-9629569)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "10760581;11237011;1378441;15676025;17709345;17947579;18184589;18477386;1856229;19574390;19819225;20684070;21060799;22851697;23103944;23301498;23303181;23481700;23711155;24100311;24486019;24550447;24550462;24550463;25418920;25576301;25728928;25892735;25944354;26154972;26375851;26811146;26929215;26992070;27600516;27920218;28228285;28832583;28834231;28855639;29242379;29331515;29393594;29557506;29563586;29632046;29769354;29786170;29789417;29914368;29915238;30315122;30429286;30484775;30524438;30779550;31217245;31844290;32157095;32265295;32350084;32387766;32488085;32502341;32870666;32897882;32938616;32983136;33141586;33214551;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34405274;34509645;34725712;34932366;35051231;35138101;35318648;35410347;35561310;35580925;35790840;36010968;36215666;36241641;36284347;37179472;37217939;37938771;38665916;40914422;6688526;9824680", "class_list": "", "function": "Catalyzes the conversion of GTP to GDP through hydrolysis of the gamma-phosphate bond in GTP (PubMed:23711155, PubMed:29915238, PubMed:37179472). Appears to have an intrinsic GTPase activity that is stimulated by ZC3H15/DFRP1 binding likely by increasing the affinity for the potassium ions (PubMed:23711155). When hydroxylated at C-3 of 'Lys-22' by JMJD7, may bind to RNA and play a role in translation (PubMed:19819225, PubMed:29915238). Binds to microtubules and promotes microtubule polymerization and stability that are required for mitotic spindle assembly during prophase to anaphase transition. GTPase activity is not necessary for these microtubule-related functions (PubMed:28855639)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder., [RefSeq, PubMed]; Structure and function of cancer-related developmentally regulated GTP-binding protein 1 (DRG1) is conserved between sponges and humans. 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": 3, "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": "B2RDS8;Q6FGP8;Q8WW69;Q9UGF2", "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": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "1.14.11.63", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.63", "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:0008017 microtubule binding;GO:0030955 potassium ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0031116 positive regulation of microtubule polymerization;GO:1901673 regulation of mitotic spindle assembly;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q9Y295-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13546-1", "uniprot_id": [ { "id": "RIPK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13546", "type": "external" } ], "mass": 75931.0, "length": 671, "protein_name": "Receptor-interacting serine/threonine-protein kinase 1", "gene_name": "RIPK1", "organism": "Human", "refseq_name": "receptor-interacting serine/threonine-protein kinase 1 isoform 1", "refseq_ac": [ { "id": "NP_003795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003795", "type": "external" } ], "gene_names_uniprotkb": "RIPK1; RIP1; RIP", "gene_names_refseq": "AIEFL; IMD57; RIP-1; RIP1; RIPK1; RIP", "protein_names_uniprotkb": "Receptor-interacting serine/threonine-protein kinase 1; 2.7.11.1; Cell death protein RIP; RIP-1; Receptor-interacting protein 1", "protein_names_refseq": "cell death protein RIP; receptor (TNFRSF)-interacting serine-threonine kinase 1; receptor-interacting protein 1; receptor-interacting protein kinase 1; receptor-interacting serine/threonine-protein kinase 1 isoform 1; receptor-interacting serine/threonine-protein kinase 1; serine/threonine-protein kinase RIP", "tax_id": 9606, "disease": "immunodeficiency 57 (Disease Ontology:DOID:0111952); squamous cell carcinoma (Disease Ontology:DOID:1749); epilepsy (Disease Ontology:DOID:1826); lichen planus (Disease Ontology:DOID:9201); autoinflammation with episodic fever and lymphadenopathy (MONDO:MONDO:0030018)", "pathway": " (hsa:8737); (R-HSA-140534); (R-HSA-168927); (R-HSA-1810476); (R-HSA-2562578); (R-HSA-3295583); (R-HSA-3371378); (R-HSA-5213460); (R-HSA-5218900); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-5357956); (R-HSA-5675482); (R-HSA-5689880); (R-HSA-5689896); (R-HSA-69416); (R-HSA-75893); (R-HSA-9013957); (R-HSA-933543); (R-HSA-937041); (R-HSA-9679191); (R-HSA-9686347); (R-HSA-9692913); (R-HSA-9693928); (R-HSA-9920951)", "pathway_count": 25, "publication_count": 382, "publication_id_list": "10087012;10356400;10358032;10385526;10409763;10444327;10521396;10723127;10837247;10894160;10982817;11002417;11050376;11098060;11101870;11116146;11181075;11226139;11237011;11243859;11301059;11384965;11427719;11463333;11463813;11566882;11577081;11717445;11734559;11854271;11923872;12015988;12107169;12167698;12181749;12215447;12221085;12620239;12620240;12709429;12721308;12752666;12884866;12887920;12912912;12917689;12917691;1422598;14634208;14661020;14716293;14739303;14754897;15024054;15053880;15064760;15144186;15145317;15258597;15289496;15310755;15334086;15556967;15760909;15814722;15870263;15916963;16048439;16056267;16115318;16115877;16127453;16214042;16260783;16282325;16522641;16547522;16585540;16603398;16618810;16682944;16829951;16829952;16901786;16953224;16964248;17047224;17290220;17301840;17314102;17344846;17389591;17428862;17443180;17449468;17636564;17644308;17662961;17702576;17703191;17873522;17980597;17981138;18172164;18178551;18190721;18256533;18408713;18442983;18450452;18467330;18485876;18570872;18632802;18636086;18669648;18761323;18767875;18838202;18941233;19015242;19135894;19188362;19278658;19289468;19363159;19383985;19398555;19416807;19424180;19464428;19524512;19524513;19590578;19666475;19683492;19818707;19838211;19874889;19910467;19996094;20005846;20025796;20096447;20185725;20218968;20219915;20223979;20228808;20304918;20308068;20354226;20368735;20385093;20501646;20553488;20696707;20696886;20716668;20951169;21091114;21235526;21239494;21362556;21408173;21455173;21571647;21596315;21659512;21737329;21737330;21849505;21887730;21931591;21962518;22029577;22085928;22123964;22124327;22128162;22179575;22216260;22265413;22265414;22297296;22401777;22421439;22421964;22435550;22479555;22552008;22814904;22817896;22848449;22858542;23159851;23186163;23301498;23313255;23395819;23473668;23481700;23486064;23641311;23746843;23824326;23825189;23827681;23955153;24056413;24059293;24098568;24130170;24144979;24204270;24246475;24260525;24272870;24316671;24323043;24493797;24584101;24610782;24703947;24726323;24726327;24813885;24896179;24973451;25197364;25305019;25389312;25459879;25565632;25576301;25578727;25674983;25736436;25765567;25801024;25852146;25855297;25904330;25996294;26002965;26086143;26280536;26344099;26559832;26775703;26866270;26900751;26933192;26992070;26997266;27108190;27307491;27458237;27545878;27552911;27591049;27600516;27701768;28176780;28425720;2848815;28506461;28657654;28661484;28832583;28834231;28842570;28920952;28920954;29237092;29242379;29383104;29393594;29440439;29508533;29557506;29642005;29681455;29786170;29844315;29883609;29883610;29930286;29945920;30026316;30059200;30146158;30185776;30201761;30349023;30361438;30420664;30429286;30442947;30666647;30770249;30779550;30979585;30988283;31031142;31048504;31138766;31358971;31366726;31457011;31492838;31511692;31534131;31827280;31827281;31844290;32119511;32157095;32269263;32320653;32366830;32398349;32488085;32561730;32574038;32578493;32657447;32690704;32938616;32944633;32983136;33141586;33214551;33469115;33542218;33592498;33608503;33717175;33912179;33968037;33981976;34019948;34162724;34171305;34363755;34405274;34725712;34876703;34999730;35051231;35254053;35513511;35580925;35831301;35941131;36010968;36241641;36284347;36310878;37340703;38632238;38665916;38788712;38880876;39012929;39271257;39276723;39531497;40914422;7531702;7538908;7578059;7667287;7758105;8612133;8679576;9044836;9049422;9065443;9721089;9880531;9927690", "class_list": "", "function": "A RIPK1-specific PROTAC degrader achieves potent antitumor activity by enhancing immunogenic cell death., [RefSeq, PubMed]; Serine-threonine kinase which is a key regulator of TNF-mediated apoptosis, necroptosis and inflammatory pathways (PubMed:17703191, PubMed:24144979, PubMed:31827280, PubMed:31827281, PubMed:32657447, PubMed:35831301). Exhibits kinase activity-dependent functions that regulate cell death and kinase-independent scaffold functions regulating inflammatory signaling and cell survival (PubMed:11101870, PubMed:19524512, PubMed:19524513, PubMed:29440439, PubMed:30988283). Has kinase-independent scaffold functions: upon binding of TNF to TNFR1, RIPK1 is recruited to the TNF-R1 signaling complex (TNF-RSC also known as complex I) where it acts as a scaffold protein promoting cell survival, in part, by activating the canonical NF-kappa-B pathway (By similarity). Kinase activity is essential to regulate necroptosis and apoptosis, two parallel forms of cell death: upon activation of its protein kinase activity, regulates assembly of two death-inducing complexes, namely complex IIa (RIPK1-FADD-CASP8), which drives apoptosis, and the complex IIb (RIPK1-RIPK3-MLKL), which drives necroptosis (By similarity). RIPK1 is required to limit CASP8-dependent TNFR1-induced apoptosis (By similarity). In normal conditions, RIPK1 acts as an inhibitor of RIPK3-dependent necroptosis, a process mediated by RIPK3 component of complex IIb, which catalyzes phosphorylation of MLKL upon induction by ZBP1 (PubMed:19524512, PubMed:19524513, PubMed:29440439, PubMed:30988283). Inhibits RIPK3-mediated necroptosis via FADD-mediated recruitment of CASP8, which cleaves RIPK1 and limits TNF-induced necroptosis (PubMed:19524512, PubMed:19524513, PubMed:29440439, PubMed:30988283). Required to inhibit apoptosis and necroptosis during embryonic development: acts by preventing the interaction of TRADD with FADD thereby limiting aberrant activation of CASP8 (By similarity). In addition to apoptosis and necroptosis, also involved in inflammatory response by promoting transcriptional production of pro-inflammatory cytokines, such as interleukin-6 (IL6) (PubMed:31827280, PubMed:31827281). Phosphorylates RIPK3: RIPK1 and RIPK3 undergo reciprocal auto- and trans-phosphorylation (PubMed:19524513). Phosphorylates DAB2IP at 'Ser-728' in a TNF-dependent manner, and thereby activates the MAP3K5-JNK apoptotic cascade (PubMed:15310755, PubMed:17389591). Required for ZBP1-induced NF-kappa-B activation in response to DNA damage (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Sirt1 Deficiency Promotes Age-Related AF Through Enhancing Atrial Necroptosis by Activation of RIPK1 Acetylation., [RefSeq, PubMed]; Studies indicate that RIP kinases RIPK1 and RIPK3 directly regulate inflammatory signaling. Review article Erratum:[Nat Immunol. 2015 Aug;16(8):889. doi: 10.1038/ni0815-889b. PMID: 26194288], [RefSeq, PubMed]; TAK1 inhibition leads to RIPK1-dependent apoptosis in immune-activated cancers. Publication Status: Online-Only, [RefSeq, PubMed]; The deubiquitinating protein OTUD6B promotes lung adenocarcinoma progression by stabilizing RIPK1. Publication Status: Online-Only, [RefSeq, PubMed]; The role of autophagy in RIP1 mediated cell death and intestinal inflammation. Review article, [RefSeq, PubMed]; This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein plays a role in inflammation and cell death in response to tissue damage, pathogen recognition, and as part of developmental regulation. RIPK1/RIPK3 kinase-mediated necrosis is referred to as necroptosis. Genetic disruption of this gene in mice results in death shortly after birth. [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": 3, "mined_n_glycosites": 0, "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": 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": 16, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A0AV89;B2RAG1;B4E3F9;Q13180;Q59H33", "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": "2.4.1.255", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.255", "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": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "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": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "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": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "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": "2.3.2.24", "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": "2.7.11.31", "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": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "3.4.22.61", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.61", "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": "3.4.22.63", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.63", "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.-.-", "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:0070513 death domain binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0070105 positive regulation of interleukin-6-mediated signaling pathway;GO:0006954 inflammatory response;GO:0006979 response to oxidative stress;GO:0010628 positive regulation of gene expression;GO:0034612 response to tumor necrosis factor", "synthesized_glycan_count": 0, "hit_score": 39.2, "record_id": "Q13546-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100010000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5L8-1", "uniprot_id": [ { "id": "RP25L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5L8", "type": "external" } ], "mass": 17631.0, "length": 163, "protein_name": "Ribonuclease P protein subunit p25-like protein", "gene_name": "RPP25L", "organism": "Human", "refseq_name": "ribonuclease P protein subunit p25-like protein", "refseq_ac": [ { "id": "NP_680544", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_680544", "type": "external" } ], "gene_names_uniprotkb": "RPP25L; C9orf23", "gene_names_refseq": "C9orf23; RPP25L; bA296L22.5", "protein_names_uniprotkb": "Ribonuclease P protein subunit p25-like protein; RNase P protein subunit-like p25; Rpp25-like protein", "protein_names_refseq": "RNase P protein subunit-like p25; alba-like protein C9orf23; ribonuclease P protein subunit p25-like protein; ribonuclease P/MRP 25kDa subunit-like; rpp25-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:138716)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "16998185;20068231;20112406;24715725;25418920;25576301;26929215;28218747;28832583;28904123;29393594;29437277;29493099;29557506;29632046;30315122;31154438;31844290;31848261;32265295;32983136;33141586;33298915;33592498;35254053;40596516", "class_list": "", "function": "May be a component of ribonuclease P or MRP., [UniProtKB]; This gene encodes a protein that appears to belong to a family of evolutionarily related proteins (DUF78), that may share one or more domains in common. Members of this family are small archaebacterial proteins with no known function. Alternative splicing has been observed at this locus and two variants, both 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DRM5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000172 ribonuclease MRP complex", "go_biological_process": "GO:0001682 tRNA 5'-leader removal", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q8N5L8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02763-1", "uniprot_id": [ { "id": "TIE2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02763", "type": "external" } ], "mass": 125830.0, "length": 1124, "protein_name": "Angiopoietin-1 receptor", "gene_name": "TEK", "organism": "Human", "refseq_name": "angiopoietin-1 receptor isoform 1 precursor", "refseq_ac": [ { "id": "NP_000450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000450", "type": "external" } ], "gene_names_uniprotkb": "TEK; TIE2; VMCM1; VMCM", "gene_names_refseq": "CD202B; GLC3E; TEK; TIE-2; TIE2; VMCM1; VMCM", "protein_names_uniprotkb": "Angiopoietin-1 receptor; 2.7.10.1; Endothelial tyrosine kinase; Tunica interna endothelial cell kinase; Tyrosine kinase with Ig and EGF homology domains-2; Tyrosine-protein kinase receptor TEK; Tyrosine-protein kinase receptor TIE-2; hTIE2; p140 TEK", "protein_names_refseq": "TEK tyrosine kinase, endothelial; angiopoietin-1 receptor isoform 1 precursor; angiopoietin-1 receptor; endothelial tyrosine kinase; tunica interna endothelial cell kinase; tyrosine kinase with Ig and EGF homology domains-2; tyrosine-protein kinase receptor TEK; tyrosine-protein kinase receptor TIE-2", "tax_id": 9606, "disease": "multiple cutaneous and mucosal venous malformations (Disease Ontology:DOID:0050792); gastric ulcer (Disease Ontology:DOID:10808); arteriovenous malformation (Disease Ontology:DOID:11294); goiter (Disease Ontology:DOID:12176); acute kidney tubular necrosis (Disease Ontology:DOID:12556); brain ischemia (Disease Ontology:DOID:2316); coronary artery disease (Disease Ontology:DOID:3393); renal Wilms' tumor (Disease Ontology:DOID:5176); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); glaucoma 3, primary congenital, E (MONDO:MONDO:0014998)", "pathway": " (hsa:7010); (R-HSA-210993); (R-HSA-5673001)", "pathway_count": 3, "publication_count": 127, "publication_id_list": "10051567;10369874;10508167;10521483;10869344;11027663;11080633;11090077;11136978;11191051;11237011;11313946;11447223;11513602;11546808;11566266;11607834;11689432;11702783;11806244;11969368;12032311;12094235;12121613;12609966;12816861;14506247;14665640;14707138;14749497;15284220;15340161;15356145;1545823;15546878;15802272;15851516;15893672;16457819;16627759;16684964;16732286;16895971;16959974;1716764;17253678;17344846;17350837;17998941;18366015;18425119;18425120;18775330;1898771;19079259;19116766;19159218;19223473;19234476;19279408;19293632;19451274;19689429;19854647;19888299;19920141;20054809;20478380;20651738;20973951;21102635;21372320;21779497;21779505;21962923;21993244;22569528;22589270;22750304;23103841;23303910;23443682;23575685;24897931;24937142;25219551;25781681;26085527;26814432;27270174;27304216;28623351;28778966;29391424;29393594;29557506;31135801;31154438;31848261;32157095;32938616;35051231;35580925;36284347;37074911;38750959;38847211;6148751;7478529;7809086;7935463;7972015;8052307;8382358;8394845;8493579;8665852;8710374;8939933;8980223;8980225;9204896;9604935;9632797;9690470;9764820;9927426", "class_list": "", "function": "Genetic association of TIE2 with diabetic retinopathy and diabetic macular edema., [RefSeq, PubMed]; TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families., [RefSeq, PubMed]; The uORFs within the Tie2 5' UTR serve to decrease the percent of ribosomes competent for reinitiation as these traverse the mRNA 5' UTR, thus minimizing interference with the internal ribosome entry site, [RefSeq, PubMed]; This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]., [RefSeq]; Tie2 mediates internal translation initiation, [RefSeq, PubMed]; Tyrosine-protein kinase that acts as a cell-surface receptor for ANGPT1, ANGPT2 and ANGPT4 and regulates angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, but also maintenance of vascular quiescence. Has anti-inflammatory effects by preventing the leakage of pro-inflammatory plasma proteins and leukocytes from blood vessels. Required for normal angiogenesis and heart development during embryogenesis. Required for post-natal hematopoiesis. After birth, activates or inhibits angiogenesis, depending on the context. Inhibits angiogenesis and promotes vascular stability in quiescent vessels, where endothelial cells have tight contacts. In quiescent vessels, ANGPT1 oligomers recruit TEK to cell-cell contacts, forming complexes with TEK molecules from adjoining cells, and this leads to preferential activation of phosphatidylinositol 3-kinase and the AKT1 signaling cascades. In migrating endothelial cells that lack cell-cell adhesions, ANGT1 recruits TEK to contacts with the extracellular matrix, leading to the formation of focal adhesion complexes, activation of PTK2/FAK and of the downstream kinases MAPK1/ERK2 and MAPK3/ERK1, and ultimately to the stimulation of sprouting angiogenesis. ANGPT1 signaling triggers receptor dimerization and autophosphorylation at specific tyrosine residues that then serve as binding sites for scaffold proteins and effectors. Signaling is modulated by ANGPT2 that has lower affinity for TEK, can promote TEK autophosphorylation in the absence of ANGPT1, but inhibits ANGPT1-mediated signaling by competing for the same binding site. Signaling is also modulated by formation of heterodimers with TIE1, and by proteolytic processing that gives rise to a soluble TEK extracellular domain. The soluble extracellular domain modulates signaling by functioning as decoy receptor for angiopoietins. TEK phosphorylates DOK2, GRB7, GRB14, PIK3R1; SHC1 and TIE1., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "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": 1, "reported_phosphosites": 15, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 73, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 12, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A8K6W0;B4DH20;B4DHD3;D3DRK5;E7EWI2;Q5TCU2;Q8IV34", "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": "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": "3.1.3.48", "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": "2.7.1.153", "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": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "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:0005524 ATP binding;GO:0042802 identical protein binding;GO:0004714 transmembrane receptor protein tyrosine kinase activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005925 focal adhesion", "go_biological_process": "GO:0032878 regulation of establishment or maintenance of cell polarity;GO:0001525 angiogenesis;GO:0007166 cell surface receptor signaling pathway;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "Q02763-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12956-1", "uniprot_id": [ { "id": "XRCC6_HUMAN", "url": "https://www.uniprot.org/uniprot/P12956", "type": "external" } ], "mass": 69843.0, "length": 609, "protein_name": "DNA repair protein Ku70", "gene_name": "XRCC6", "organism": "Human", "refseq_name": "DNA repair protein Ku70 isoform 1", "refseq_ac": [ { "id": "NP_001275905", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275905", "type": "external" } ], "gene_names_uniprotkb": "XRCC6; G22P1", "gene_names_refseq": "CTC75; CTCBF; G22P1; KU70; ML8; TLAA; XRCC6", "protein_names_uniprotkb": "DNA repair protein Ku70; 4.2.99.18; 5'-dRP lyase Ku70; 5'-deoxyribose-5-phosphate lyase Ku70; 5.6.2.4; 70 kDa subunit of Ku antigen; ATP-dependent DNA helicase 2 subunit 1; ATP-dependent DNA helicase II 70 kDa subunit; CTC box-binding factor 75 kDa subunit; CTC75; CTCBF; DNA repair protein XRCC6; Ku70; Lupus Ku autoantigen protein p70; TLAA; Thyroid-lupus autoantigen; X-ray repair complementing defective repair in Chinese hamster cells 6; X-ray repair cross-complementing protein 6", "protein_names_refseq": "5'-dRP lyase Ku70; 5'-deoxyribose-5-phosphate lyase Ku70; 70 kDa subunit of Ku antigen; ATP-dependent DNA helicase 2 subunit 1; ATP-dependent DNA helicase II, 70 kDa subunit; CTC box binding factor 75 kDa subunit; DNA repair protein Ku70 isoform 1; DNA repair protein Ku70; DNA repair protein XRCC6; Ku autoantigen p70 subunit; Ku autoantigen, 70kDa; X-ray repair complementing defective repair in Chinese hamster cells 6; X-ray repair cross-complementing protein 6; lupus Ku autoantigen protein p70; thyroid autoantigen 70kD (Ku antigen); thyroid autoantigen 70kDa (Ku antigen); thyroid-lupus autoantigen p70", "tax_id": 9606, "disease": "squamous cell carcinoma (Disease Ontology:DOID:1749); basal cell carcinoma (Disease Ontology:DOID:2513)", "pathway": " (hsa:2547); (R-HSA-164843); (R-HSA-1834949); (R-HSA-3270619); (R-HSA-5693571); (R-HSA-6798695)", "pathway_count": 6, "publication_count": 248, "publication_id_list": "10.1101/2023.09.13.557529;10026262;10219089;10572166;10757784;11035028;11237011;11457852;11493912;11604075;11702069;11839743;11862315;11955432;12023295;12077346;12124871;12133833;12145306;12186630;12231622;12509254;12547193;12692549;12897153;12947387;14561766;14654843;15023334;15075319;15177042;15210742;15302935;1537839;15451442;15468306;15574327;15723659;16061182;1608402;16093244;16281057;16291214;16306936;16439204;16439205;16600297;16874298;16914548;1707916;17290226;17322306;17470781;17483521;17526488;18046455;18362350;18397950;18452278;18477386;18669648;18818105;18991276;19158675;19158676;19158679;19307177;19413330;19433799;19505854;19608861;19609254;19631370;19664994;19664995;19690332;19776740;19926846;20068230;20068231;20112406;20383123;20493174;21398614;21406692;22179609;22223895;22394562;22442688;22529269;22579474;22619329;22967762;23186163;23213405;23251783;23306437;23333306;23388631;23481700;23505375;23650620;23685356;23689425;23727112;23783831;23972994;24029068;24098118;24236237;24366607;24560620;24598253;24610814;2466842;24714562;24715725;25218447;25418920;25469497;25512557;25574025;25576301;25645385;25670504;25818648;25841101;25852083;25880248;25892735;25941166;26154972;26337656;26359349;26375851;26728094;26811146;26929215;26992070;27063109;27402161;27452731;27600516;27601299;27655845;27705800;27846572;27893789;27920218;27998981;28063628;28163277;28218747;28228285;28514659;28712728;28832583;28834231;28855257;28904123;28959974;2917966;29237092;29242379;29331515;29393594;29437277;29490055;29493099;29557506;29632046;29632711;29786170;30315122;30397120;30410026;30444036;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;32103174;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33298915;33592498;33691108;33717175;33854234;33912179;33936100;33968037;33981976;34019948;34171305;34352203;34357683;34509645;34725712;35008409;35051231;35083852;35138101;35251023;35318648;35545041;35561310;35580925;36010968;36215666;36241641;36284347;37074911;37217939;38665916;38862269;39054531;39151475;39302247;40307207;40596516;40914422;7882982;7957065;8422676;8605992;8621488;8692836;9259561;9362500;9430729;9512523;9742108;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-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 XRCC5 (Ku80), 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:20493174, PubMed:33854234, PubMed:34352203, PubMed:9742108). 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). Additionally, it negatively regulates apoptosis by interacting with BAX, sequestering it from the mitochondria, and may possess deubiquitination activity targeting BAX (PubMed:15023334, PubMed:18362350, PubMed:35545041)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Ku70 Binding to YAP Alters PARP1 Ubiquitination to Regulate Genome Stability and Tumorigenesis., [RefSeq, PubMed]; M[6]A-mediated lnc-OXAR promotes oxaliplatin resistance by enhancing Ku70 stability in non-alcoholic steatohepatitis-related hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus erythematosus. [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 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"GO:0043138 3'-5' DNA helicase activity;GO:0051575 5'-deoxyribose-5-phosphate lyase activity;GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0005524 ATP binding", "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:0097680 double-strand break repair via classical nonhomologous end joining;GO:0006351 DNA-templated transcription;GO:0045087 innate immune response;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 25.7, "record_id": "P12956-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36507-1", "uniprot_id": [ { "id": "MP2K2_HUMAN", "url": "https://www.uniprot.org/uniprot/P36507", "type": "external" } ], "mass": 44424.0, "length": 400, "protein_name": "Dual specificity mitogen-activated protein kinase kinase 2", "gene_name": "MAP2K2", "organism": "Human", "refseq_name": "dual specificity mitogen-activated protein kinase kinase 2 isoform 1", "refseq_ac": [ { "id": "NP_109587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_109587", "type": "external" } ], "gene_names_uniprotkb": "MAP2K2; MEK2; MKK2; PRKMK2", "gene_names_refseq": "CFC4; MAP2K2; MAPKK2; MEK2; MKK2; PRKMK2", "protein_names_uniprotkb": "Dual specificity mitogen-activated protein kinase kinase 2; 2.7.12.2; ERK activator kinase 2; MAP kinase kinase 2; MAPK/ERK kinase 2; MAPKK 2; MEK 2", "protein_names_refseq": "ERK activator kinase 2; MAP kinase kinase 2; MAPK/ERK kinase 2; dual specificity mitogen-activated protein kinase kinase 2 isoform 1; dual specificity mitogen-activated protein kinase kinase 2; mitogen-activated protein kinase kinase 2, p45", "tax_id": 9606, "disease": "RASopathy (Disease Ontology:DOID:0080690); cardiofaciocutaneous syndrome 4 (Disease Ontology:DOID:0111463); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); glioblastoma (Disease Ontology:DOID:3068); small intestine adenocarcinoma (Disease Ontology:DOID:4906); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:5605); (R-HSA-112411); (R-HSA-170968); (R-HSA-445144); (R-HSA-5210891); (R-HSA-5673000); (R-HSA-5674135); (R-HSA-5674499); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-9649948); (R-HSA-9652169); (R-HSA-9656223)", "pathway_count": 15, "publication_count": 316, "publication_id_list": "10205168;10209122;10409742;10567369;10611478;10629055;10712905;10725339;10818153;10891492;11032810;11104681;11237011;11278445;11325826;11466412;11494123;11741534;11756411;11802164;11802165;12040181;12068308;12244094;12456642;12473660;12479806;12551923;12676795;12832465;12932319;12932339;1438214;14530258;14636584;14654779;14718570;14970219;15035987;15118098;15175348;15239952;15258589;15260967;15337774;15466476;15467451;15520807;15543157;15547943;15596135;15597056;15630448;15664191;15710605;15711535;15899852;16041367;16093354;16135787;16294014;16364920;16439621;1644824;16508002;16537381;16630891;16702958;16879721;16939974;16964243;17018604;17081983;17097642;17116858;17145850;17178906;17192257;17234158;17253643;17322306;17496912;17563371;17603482;17603483;17667937;18042262;18060073;18088087;18212344;18222703;18287029;18294816;18413255;18452278;18555990;18559533;18562239;18632602;18662992;18669648;18691976;18974108;19049963;19091303;19158341;19219045;19242111;19279408;19413330;19415658;19447520;19467855;19541618;19574224;19651622;19684605;19727074;19933846;20052757;20068231;20130576;20141835;20166139;20179705;20358587;20526349;20563614;20674547;20818844;20820846;20858867;21107323;2114169;21383288;21406692;21424530;21441104;21441910;21514245;21639808;21779496;21784453;21993244;22043453;22065583;22113612;22177953;22197931;22292133;22356324;22395615;22510884;22538822;22569528;22589270;22592532;22745804;22826437;2295682;23171796;23186163;23288408;23301498;23352452;23360980;23453624;23583981;23614898;23667175;23680146;23863182;23875798;23906342;23934108;23954936;23993095;24121058;24121489;24135138;24202393;24211266;24241536;24265153;24275569;24345920;24347342;24651010;24746704;24937142;24957944;25049390;25182392;25195011;25204415;25313996;25435214;25468936;25576301;25810538;25907612;25965804;25974265;26214590;26343583;26811146;26992070;27227380;27264673;27503831;27846572;27862975;27920218;27999210;28063628;28076410;28082416;28289718;28666118;28904123;28939558;28984291;29242379;29351928;29393594;29433126;29461827;29467321;29493099;29557506;29632046;30034615;30059200;30315122;30794926;31020640;31154438;31217245;31492838;31844290;32119511;32157095;32265295;32350084;32357974;32387766;32502341;32574038;3287375;32938616;33141586;33226073;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34229054;34357683;34725712;34932366;35051231;35154160;35157553;35318648;35513511;36284347;37541260;38259097;38665916;40307207;40596516;40914422;6328915;7542586;7565670;7565795;7651428;7731720;7744815;7806500;7854123;7929275;7935411;8013650;8051079;8051159;8131746;8157000;8387505;8388392;8509458;8521512;8521513;8521514;8592152;8637718;8668348;8876196;8946910;9020159;9182757;9234708;9396761;9416003;9560161;9563949;9689060;9703991;9733512;9823899;9858547", "class_list": "", "function": "Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in MAP kinases. Activates the ERK1 and ERK2 MAP kinases (By similarity). Activates BRAF in a KSR1 or KSR2-dependent manner; by binding to KSR1 or KSR2 releases the inhibitory intramolecular interaction between KSR1 or KSR2 protein kinase and N-terminal domains which promotes KSR1 or KSR2-BRAF dimerization and BRAF activation (PubMed:29433126)., [UniProtKB, UniProtKB, PubMed]; Lung Fibroblasts Take up Breast Cancer Cell-derived Extracellular Vesicles Partially Through MEK2-dependent Macropinocytosis., [RefSeq, PubMed]; MAP2K2 Delays Recovery in Murine Models of Acute Lung Injury and Associates with Acute Respiratory Distress Syndrome Outcome., [RefSeq, PubMed]; The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, cognitive disability, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified 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": 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": 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": 23, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 48, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 6, "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": "2.7.10.1", "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": "2.7.11.24", "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": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "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": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.11.12", "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": "2.7.1.107", "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": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "1.14.11.65", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.65", "type": "external" }, { "id": "3.1.31.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.31.1", "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:0005524 ATP binding;GO:0046872 metal ion binding;GO:0004712 protein serine/threonine/tyrosine kinase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005769 early endosome;GO:0005778 peroxisomal membrane", "go_biological_process": "GO:2000641 regulation of early endosome to late endosome transport;GO:0010628 positive regulation of gene expression;GO:0000165 MAPK cascade;GO:0042552 myelination;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 32.3, "record_id": "P36507-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100010001001.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54253-1", "uniprot_id": [ { "id": "ATX1_HUMAN", "url": "https://www.uniprot.org/uniprot/P54253", "type": "external" } ], "mass": 86923.0, "length": 815, "protein_name": "Ataxin-1", "gene_name": "ATXN1", "organism": "Human", "refseq_name": "ataxin-1 isoform ATXN1", "refseq_ac": [ { "id": "NP_000323", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000323", "type": "external" } ], "gene_names_uniprotkb": "ATXN1; ATX1; SCA1", "gene_names_refseq": "ATX1; ATXN1; D6S504E; SCA1", "protein_names_uniprotkb": "Ataxin-1; Spinocerebellar ataxia type 1 protein", "protein_names_refseq": "alternative ataxin1; ataxin-1 isoform ATXN1; spinocerebellar ataxia type 1 protein", "tax_id": 9606, "disease": "spinocerebellar ataxia 1 (Disease Ontology:DOID:0050954); autosomal dominant cerebellar ataxia (Disease Ontology:DOID:1441)", "pathway": " (hsa:6310)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11001934;11136710;11237011;12062018;12093161;12741986;12757707;14583607;15824120;16121196;18669648;20068231;21475249;23186163;23760502;25576301;25768905;27846572;28218747;28657654;28832583;29237092;29242379;29351928;29786170;30620550;31492838;32157095;32574038;32938616;33214551;34019948;34846842;35051231;35132862;35254053;35289036;35580925;36010968;36629882;38665916;39302247;39307401;39531497;7647801;7951322;8634720;9097953;9353121", "class_list": "", "function": "Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism (PubMed:21475249). In concert with CIC and ATXN1L, involved in brain development (By similarity)., [UniProtKB, PubMed, UniProtKB]; Data indicate that the alternative ataxin-1 (ATXN1) protein is constitutively co-expressed and interacts with ATXN1., [RefSeq, PubMed]; Elevation of hsa-miR-7-5p level mediated by CtBP1-p300-AP1 complex targets ATXN1 to trigger NF-kappaB-dependent inflammation response., [RefSeq, PubMed]; Expanded ATXN1 alters transcription and calcium signaling in SCA1 human motor neurons differentiated from induced pluripotent stem cells., [RefSeq, PubMed]; The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames. [provided by RefSeq, Nov 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": 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": 8, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q17S02;Q9UJG2;Q9Y4J1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0031208 POZ domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006396 RNA processing;GO:0007612 learning;GO:0007613 memory", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "P54253-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P99999-1", "uniprot_id": [ { "id": "CYC_HUMAN", "url": "https://www.uniprot.org/uniprot/P99999", "type": "external" } ], "mass": 11749.0, "length": 105, "protein_name": "Cytochrome c", "gene_name": "CYCS", "organism": "Human", "refseq_name": "cytochrome c", "refseq_ac": [ { "id": "NP_061820", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061820", "type": "external" } ], "gene_names_uniprotkb": "CYCS; CYC", "gene_names_refseq": "CYCS; CYC; HCS; THC4", "protein_names_uniprotkb": "Cytochrome c", "protein_names_refseq": "cytochrome c", "tax_id": 9606, "disease": "Huntington's disease (Disease Ontology:DOID:12858); thrombocytopenia (Disease Ontology:DOID:1588); pancreatic cancer (Disease Ontology:DOID:1793); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); hyperglycemia (Disease Ontology:DOID:4195); cholangiocarcinoma (Disease Ontology:DOID:4947)", "pathway": " (hsa:54205); (R-HSA-111457); (R-HSA-111458); (R-HSA-111459); (R-HSA-111461); (R-HSA-111463); (R-HSA-111464); (R-HSA-2151201); (R-HSA-3299685); (R-HSA-5620971); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9627069); (R-HSA-9707564)", "pathway_count": 14, "publication_count": 321, "publication_id_list": "10029572;10206961;10327278;10329961;10412986;10514471;10521424;10643692;10656833;10713165;10716435;10745013;10833429;10919671;10929711;10949025;10972280;10980602;10982;11018045;11029283;11034341;11084335;11139407;11140638;11237011;11242052;11257231;11340051;11340167;11408476;11486029;11507097;11518528;11545734;11695836;11701129;11734640;11752425;11809803;11886899;11912930;11959846;12161445;12203114;12231006;12374852;12438239;12446202;12453409;12563009;12620238;12660240;12714747;12745923;12824163;12829378;12837546;12869586;12874265;12906785;12941691;12969439;1327877;13298683;13538944;13933734;14063298;14651849;14741580;14960576;15044467;15046979;15064408;15104674;15105503;15223;15250827;15271982;15280035;15317809;15589136;15596429;15684387;15927447;16079181;16079853;16140933;16230336;16401067;16413492;16568091;16615992;16636147;1668270;16728594;16750198;16760263;16788062;16839880;16880213;16890199;16897187;16908542;16911507;16916640;17031457;17033964;17264172;17275676;17298220;17437997;17486094;17519234;17540029;1763037;17697703;17707404;17715127;17724022;17923681;18083711;18198340;18215119;18343819;18344994;18345000;18358825;18619610;186667;18680753;18692468;18703498;18936159;18991276;19001277;19113821;19219623;19356719;19417006;19439913;19487573;19542232;19608861;19690164;19822145;19859801;19951946;19968714;1999334;20068231;20070187;20080666;20182617;20351271;20367259;20378837;20690882;2071038;20929863;21215271;21385867;21393238;21750704;21958598;21967640;22363791;22424782;22427940;22493009;22869735;22910329;23150584;23152058;23164639;23270816;23454490;23455484;23521171;23564345;23650375;23747254;23775793;239860;24066844;24366874;24367089;24383451;24714562;24718924;25047527;25313070;25418920;25469497;25564869;25576301;25579166;26375003;26508369;26652033;26728094;26811146;26992070;27281216;27383986;27418190;27452731;27697150;27846572;27920218;28045099;28063628;28192157;28392147;28459430;2849112;28698372;28832583;28834231;28904123;29177860;29242379;29393594;29508533;29539421;29557506;29632046;29632711;29769354;29891674;29898893;29990470;30143555;30315122;30444036;30524438;30976076;31113851;31217245;31844290;32109412;32157095;32188940;32265295;32350084;32367036;32387766;32820063;32897882;32938616;33043033;33091337;33141586;33214551;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;3427020;34357683;34561969;3457020;3475708;34932366;35051231;35138101;35154160;35251023;3532102;35561310;35580925;3619451;3693360;37356378;38472487;38531481;38665916;38937450;4288886;5389100;5666113;60;6094553;6286671;6961438;7021796;7172448;7487923;7629110;7799916;7979252;7989588;807573;8108407;8119488;8333869;8379940;8428933;8452552;8663465;9045906;9178750;9230442;9234479;9267021;9286700;9295278;9369223;9390557;9515723;9639555;9726962;9878551;9922454;9923614;9926927", "class_list": "", "function": "Altered conformational dynamics contribute to species-specific effects of cytochrome c mutations on caspase activation., [RefSeq, PubMed]; Effects of naturally occurring S47F/A mutations on the structure and function of human cytochrome c., [RefSeq, PubMed]; Electron carrier protein. The oxidized form of the cytochrome c heme group can accept an electron from the heme group of the cytochrome c1 subunit of cytochrome reductase. Cytochrome c then transfers this electron to the cytochrome oxidase complex, the final protein carrier in the mitochondrial electron-transport chain., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; MicroRNA miR-20a-5p targets CYCS to inhibit apoptosis in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in apoptosis. Suppression of the anti-apoptotic members or activation of the pro-apoptotic members of the Bcl-2 family leads to altered mitochondrial membrane permeability resulting in release of cytochrome c into the cytosol. Binding of cytochrome c to Apaf-1 triggers the activation of caspase-9, which then accelerates apoptosis by activating other caspases., [UniProtKB, UniProtKB, UniProtKB]; The Y49H cytochrome c variant enhances megakaryocytic maturation of K-562 cells., [RefSeq, PubMed]; This gene encodes a small heme protein that functions as a central component of the electron transport chain in mitochondria. The encoded protein associates with the inner membrane of the mitochondrion where it accepts electrons from cytochrome b and transfers them to the cytochrome oxidase complex. This protein is also involved in initiation of apoptosis. Mutations in this gene are associated with autosomal dominant nonsyndromic thrombocytopenia. Numerous processed pseudogenes of this gene are found throughout the human genome.[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": 3, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 0, "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": "A4D166;B2R4I1;P00001;Q6NUR2;Q6NX69;Q96BV4", "ec_number_list": [], "go_molecular_function": "GO:0009055 electron transfer activity;GO:0046872 metal ion binding;GO:0020037 heme binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0005829 cytosol", "go_biological_process": "GO:0097190 apoptotic signaling pathway;GO:0097194 execution phase of apoptosis;GO:0097193 intrinsic apoptotic signaling pathway;GO:0006123 mitochondrial electron transport, cytochrome c to oxygen;GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c", "synthesized_glycan_count": 0, "hit_score": 32.4, "record_id": "P99999-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59991-1", "uniprot_id": [ { "id": "KR122_HUMAN", "url": "https://www.uniprot.org/uniprot/P59991", "type": "external" } ], "mass": 14689.0, "length": 146, "protein_name": "Keratin-associated protein 12-2", "gene_name": "KRTAP12-2", "organism": "Human", "refseq_name": "keratin-associated protein 12-2", "refseq_ac": [ { "id": "NP_859012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_859012", "type": "external" } ], "gene_names_uniprotkb": "KRTAP12-2; KAP12.2; KRTAP12.2", "gene_names_refseq": "KAP12.2; KRTAP12-2; KRTAP12.2", "protein_names_uniprotkb": "Keratin-associated protein 12-2; High sulfur keratin-associated protein 12.2; Keratin-associated protein 12.2", "protein_names_refseq": "high sulfur keratin-associated protein 12.2; keratin-associated protein 12-2; keratin-associated protein 12.2", "tax_id": 9606, "disease": "", "pathway": " (hsa:353323); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "14962103;15028290;15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A6NIS1;A6NMS9;Q0VAS4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "P59991-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13177-1", "uniprot_id": [ { "id": "PAK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13177", "type": "external" } ], "mass": 58043.0, "length": 524, "protein_name": "Serine/threonine-protein kinase PAK 2", "gene_name": "PAK2", "organism": "Human", "refseq_name": "serine/threonine-protein kinase PAK 2", "refseq_ac": [ { "id": "NP_002568", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002568", "type": "external" } ], "gene_names_uniprotkb": "PAK2", "gene_names_refseq": "KNO2; PAK2; PAK65; PAKgamma", "protein_names_uniprotkb": "Serine/threonine-protein kinase PAK 2; 2.7.11.1; C-t-PAK2; Gamma-PAK; PAK-2; PAK65; S6/H4 kinase; p21-activated kinase 2; p58", "protein_names_refseq": "PAK-2; S6/H4 kinase; gamma-PAK; p21 (CDKN1A)-activated kinase 2; p21 protein (Cdc42/Rac)-activated kinase 2; p21-activated kinase 2; p58; serine/threonine-protein kinase PAK 2", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); ductal carcinoma in situ (Disease Ontology:DOID:0060074); ureteral obstruction (Disease Ontology:DOID:5199); Knobloch syndrome 2 (MONDO:MONDO:0100119)", "pathway": " (hsa:5062); (R-HSA-164944); (R-HSA-202433); (R-HSA-211728); (R-HSA-211733); (R-HSA-211736); (R-HSA-2871796); (R-HSA-389359); (R-HSA-3928664); (R-HSA-399954); (R-HSA-428540); (R-HSA-4420097); (R-HSA-445355); (R-HSA-5218920); (R-HSA-5621575); (R-HSA-5627123); (R-HSA-5687128); (R-HSA-8950505); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013406); (R-HSA-9013407); (R-HSA-9013408); (R-HSA-9013409); (R-HSA-9013420); (R-HSA-9013423); (R-HSA-9013424)", "pathway_count": 28, "publication_count": 700, "publication_id_list": 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"class_list": "", "function": "A novel pipeline for prioritizing cancer type-specific therapeutic vulnerabilities using DepMap identifies PAK2 as a target in head and neck squamous cell carcinomas., [RefSeq, PubMed]; ACSL4 promotes malignant progression of Hepatocellular carcinoma by targeting PAK2 transcription., [RefSeq, PubMed]; Molecular mechanisms of pancreatic cancer liver metastasis: the role of PAK2. Publication Status: Online-Only, [RefSeq, PubMed]; Porocarcinomas with PAK1/2/3 fusions: a series of 12 cases., [RefSeq, PubMed]; Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell motility, cell cycle progression, apoptosis or proliferation (PubMed:12853446, PubMed:16617111, PubMed:19273597, PubMed:19923322, PubMed:33693784, PubMed:7744004, PubMed:9171063). Acts as a downstream effector of the small GTPases CDC42 and RAC1 (PubMed:7744004). Activation by the binding of active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues (PubMed:7744004). Full-length PAK2 stimulates cell survival and cell growth (PubMed:7744004). Phosphorylates MAPK4 and MAPK6 and activates the downstream target MAPKAPK5, a regulator of F-actin polymerization and cell migration (PubMed:21317288). Phosphorylates JUN and plays an important role in EGF-induced cell proliferation (PubMed:21177766). Phosphorylates many other substrates including histone H4 to promote assembly of H3.3 and H4 into nucleosomes, BAD, ribosomal protein S6, or MBP (PubMed:21724829). Phosphorylates CASP7, thereby preventing its activity (PubMed:21555521, PubMed:27889207). Additionally, associates with ARHGEF7 and GIT1 to perform kinase-independent functions such as spindle orientation control during mitosis (PubMed:19273597, PubMed:19923322). On the other hand, apoptotic stimuli such as DNA damage lead to caspase-mediated cleavage of PAK2, generating PAK-2p34, an active p34 fragment that translocates to the nucleus and promotes cellular apoptosis involving the JNK signaling pathway (PubMed:12853446, PubMed:16617111, PubMed:9171063). Caspase-activated PAK2 phosphorylates MKNK1 and reduces cellular translation (PubMed:15234964)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [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": 1, "reported_phosphosites": 34, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 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"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:0042802 identical protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0050770 regulation of axonogenesis;GO:0150105 protein localization to cell-cell junction;GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0016477 cell migration", "synthesized_glycan_count": 0, "hit_score": 70.6, "record_id": "Q13177-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43924-1", "uniprot_id": [ { "id": "PDE6D_HUMAN", "url": "https://www.uniprot.org/uniprot/O43924", "type": "external" } ], "mass": 17420.0, "length": 150, "protein_name": "Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta", "gene_name": "PDE6D", "organism": "Human", "refseq_name": "retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta isoform 2", "refseq_ac": [ { "id": "NP_001277947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277947", "type": "external" } ], "gene_names_uniprotkb": "PDE6D; PDED", "gene_names_refseq": "JBTS22; PDE6D; PDED", "protein_names_uniprotkb": "Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta; GMP-PDE delta; Protein p17", "protein_names_refseq": "GMP-PDE delta; phosphodiesterase 6D, cGMP-specific, rod, delta; protein p17; retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta isoform 2; retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta", "tax_id": 9606, "disease": "Joubert syndrome 22 (Disease Ontology:DOID:0110991)", "pathway": " (hsa:5147); (R-HSA-5624958); (R-HSA-9648002)", "pathway_count": 3, "publication_count": 111, "publication_id_list": "10085068;10085069;10518933;10667208;11038283;11120601;11196150;11237011;11585916;11739732;11980706;12433685;12727204;12750467;14561760;14660603;14966563;15451670;15659645;16000296;16043511;16483930;18182391;18502828;19188362;19668215;19668216;20416930;20418879;20622895;20802526;21170358;21661760;21779505;21905185;21905186;22002721;22144181;22179043;22195972;22589270;22721555;23150559;23514631;23559067;23698361;23943869;24033119;24166846;24725411;24971579;25418920;25550383;25713064;25759176;25781681;25892735;26085527;26154972;26590425;2661017;26701913;26706195;26771141;2682646;26929215;26992070;27094677;27396271;27410739;27697864;27791178;27846572;27920218;28063628;28167504;28630138;28666118;28778966;28832583;28904123;29311131;29393594;29424242;29557506;29632046;29769354;30315122;30410026;30779550;31217245;31844290;32265295;32387766;32877642;32983136;34932366;35051231;35422065;35580925;36284347;36672247;9436858;9533031;9570951;9712853;9781033;9810004;9822558;9851253;9990021", "class_list": "", "function": "PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes the release of prenylated target proteins from cellular membranes (PubMed:9712853). Modulates the activity of prenylated or palmitoylated Ras family members by regulating their subcellular location (PubMed:22002721, PubMed:23698361). Required for normal ciliary targeting of farnesylated target proteins, such as INPP5E (PubMed:24166846). Required for RAB28 localization to the cone cell outer segments in the retina (By similarity). Modulates the subcellular location of target proteins by acting as a GTP specific dissociation inhibitor (GDI) (By similarity). Increases the affinity of ARL3 for GTP by several orders of magnitude. Stabilizes ARL3-GTP by decreasing the nucleotide dissociation rate (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Study identifies PDE6D as a novel Joubert syndrome gene and provides the first evidence of prenyl-binding-dependent trafficking in ciliopathies., [RefSeq, PubMed]; This gene encodes the delta subunit of rod-specific photoreceptor phosphodiesterase (PDE), a key enzyme in the phototransduction cascade. A similar protein in cow functions in solubilizing membrane-bound PDE. In addition to its role in the PDE complex, the encoded protein is thought to bind to prenyl groups of proteins to target them to subcellular organelles called cilia. Mutations in this gene are associated with Joubert syndrome-22. Alternative splicing results in multiple splice variants. [provided by RefSeq, Mar 2014]., [RefSeq]; Validation of a small molecule inhibitor of PDE6D-RAS interaction with favorable anti-leukemic effects. 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O43250", "ec_number_list": [], "go_molecular_function": "GO:0005095 GTPase inhibitor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005929 cilium;GO:0030659 cytoplasmic vesicle membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0007601 visual perception", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "O43924-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53611-1", "uniprot_id": [ { "id": "PGTB2_HUMAN", "url": "https://www.uniprot.org/uniprot/P53611", "type": "external" } ], "mass": 36924.0, "length": 331, "protein_name": "Geranylgeranyl transferase type-2 subunit beta", "gene_name": "RABGGTB", "organism": "Human", "refseq_name": "geranylgeranyl transferase type-2 subunit beta", "refseq_ac": [ { "id": "NP_004573", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004573", "type": "external" } ], "gene_names_uniprotkb": "RABGGTB; GGTB", "gene_names_refseq": "GGTB; RABGGTB", "protein_names_uniprotkb": "Geranylgeranyl transferase type-2 subunit beta; 2.5.1.60; GGTase-II-beta; Geranylgeranyl transferase type II subunit beta; Rab GG transferase beta; Rab GGTase beta; Rab geranyl-geranyltransferase subunit beta; Rab geranylgeranyltransferase subunit beta; Type II protein geranyl-geranyltransferase subunit beta", "protein_names_refseq": "GGTase-II-beta; Rab geranylgeranyltransferase beta subunit; geranylgeranyl transferase type-2 subunit beta; rab GG transferase beta; rab GGTase beta; type II protein geranyl-geranyltransferase subunit beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:5876); (R-HSA-6803205); (R-HSA-8873719)", "pathway_count": 3, "publication_count": 127, "publication_id_list": "10733530;11054413;11141079;11237011;11389151;11447212;11466336;11675392;11684014;11714700;11919562;1321151;14614825;14729977;15377670;15577913;15797384;15837622;15958553;16140933;16249378;16401880;1648736;17081983;17114793;17411337;17442733;18532927;18669648;18691976;19040420;19349281;19413330;19549844;19603039;20068231;22694141;23059823;23182941;23186163;23481700;23671130;24023390;24260043;24366607;24715725;25341920;25418920;25576301;25880248;26811146;26929215;26969162;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28510447;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29557506;29632046;29786170;30315122;30484775;30573663;31092671;31209342;31222486;31844290;32128853;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34509645;34932366;35051231;35154160;35561310;35580925;36010968;36215666;36241641;36284347;38665916;40914422;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8662963;8706741;8836150;8954794", "class_list": "", "function": "A SNARE geranylgeranyltransferase essential for the organization of the Golgi apparatus., [RefSeq, PubMed]; Catalyzes the transfer of a geranylgeranyl moiety from geranylgeranyl diphosphate to both cysteines of Rab proteins with the C-terminal sequence -XXCC, -XCXC and -CCXX, such as RAB1A, RAB3A, RAB5A and RAB7A (PubMed:7991565). Catalytic subunit of the geranylgeranyl transferase type 3 (GGTase-3) complex (PubMed:31209342, PubMed:32128853). The GGTase-3 complex geranylgeranylates and targets FBXL2 to the cellular membranes, where FBXL2 forms part of the E3 ubiquitin-protein ligase complex SCF(FBXL2) that mediates the degradation of membrane-anchored proteins (PubMed:31209342, PubMed:32128853). The GGTase-3 complex geranylgeranylates Golgi v-SNARE protein YKT6 at 'Cys-194' and this prenylation is required for Golgi SNARE complex assembly (PubMed:32128853)., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protein prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to C-terminal cysteine residues of Rab GTPases. Three small nucleolar RNA genes are present in the intronic regions of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 3. [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": 1, "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": "Q92697", "ec_number_list": [ { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.5.1.58", "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": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "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:0004663 Rab geranylgeranyltransferase activity;GO:0008270 zinc ion binding;GO:0031267 small GTPase binding;GO:0046872 metal ion binding;GO:0008318 protein prenyltransferase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005968 Rab-protein geranylgeranyltransferase complex", "go_biological_process": "GO:0036211 protein modification process;GO:0007601 visual perception;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0018344 protein geranylgeranylation", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "P53611-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5L2-1", "uniprot_id": [ { "id": "HLPDA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5L2", "type": "external" } ], "mass": 6950.0, "length": 63, "protein_name": "Hypoxia-inducible lipid droplet-associated protein", "gene_name": "HILPDA", "organism": "Human", "refseq_name": "hypoxia-inducible lipid droplet-associated protein", "refseq_ac": [ { "id": "NP_001092256", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092256", "type": "external" } ], "gene_names_uniprotkb": "HILPDA; C7orf68; HIG2", "gene_names_refseq": "C7orf68; HIG-2; HIG2; HILPDA", "protein_names_uniprotkb": "Hypoxia-inducible lipid droplet-associated protein; Hypoxia-inducible gene 2 protein", "protein_names_refseq": "hypoxia inducible gene 2; hypoxia-inducible gene 2 protein; hypoxia-inducible lipid droplet-associated protein; hypoxia-inducible protein 2", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:29923); (R-HSA-8964572)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "10.1038/emboj.2013.79;10690527;15930302;17311113;18160536;18669648;19843876;20134266;20624928;21614900;22106267;23481700;23584533;24416375;24519944;25028495;26322308;26515554;27757561;28228285;31611695;33235818;34211107;36990128;37061197;37552373;38335255;38780613", "class_list": "", "function": "Downregulation of fatty acid oxidation led by Hilpda increases G2/M arrest/delay-induced kidney fibrosis., [RefSeq, PubMed]; FOXS1 acts as an oncogene and induces EMT through FAK/PI3K/AKT pathway by upregulating HILPDA in prostate cancer. Erratum:[FASEB J. 2026 Jan 31;40(2):e71477. doi: 10.1096/fj.202600191. PMID: 41562334], [RefSeq, PubMed]; HILPDA promotes NASH-driven HCC development by restraining intracellular fatty acid flux in hypoxia., [RefSeq, PubMed]; HILPDA-mediated lipidomic remodelling promotes radiotherapy resistance in nasopharyngeal carcinoma by accelerating mitophagy. Publication Status: Online-Only, [RefSeq, PubMed]; Increases intracellular lipid accumulation. Stimulates expression of cytokines including IL6, MIF and VEGFA. Enhances cell growth and proliferation., [UniProtKB, PubMed, PubMed]; May be used as a marker for early detection of ovarian clear cell adenocarcinoma, [RefSeq, PubMed]; Targeting MYC induces lipid droplet accumulation by upregulation of HILPDA in clear cell renal cell carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "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": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A4D0Z5;Q52LY5;Q53HJ7", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0120013 lipid transfer activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005811 lipid droplet;GO:0005829 cytosol;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0010884 positive regulation of lipid storage;GO:0071456 cellular response to hypoxia;GO:0001819 positive regulation of cytokine production;GO:0034389 lipid droplet organization", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9Y5L2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01112-1", "uniprot_id": [ { "id": "RASH_HUMAN", "url": "https://www.uniprot.org/uniprot/P01112", "type": "external" } ], "mass": 21298.0, "length": 189, "protein_name": "GTPase HRas", "gene_name": "HRAS", "organism": "Human", "refseq_name": "GTPase HRas isoform 1", "refseq_ac": [ { "id": "NP_001123914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123914", "type": "external" } ], "gene_names_uniprotkb": "HRAS; HRAS1", "gene_names_refseq": "C-BAS/HAS; C-H-RAS; C-HA-RAS1; CTLO; H-RASIDX; HAMSV; HRAS1; HRAS; RASH1; p21ras", "protein_names_uniprotkb": "GTPase HRas; 3.6.5.2; H-Ras-1; Ha-Ras; Transforming protein p21; c-H-ras; p21ras", "protein_names_refseq": "GTP- and GDP-binding peptide B; GTPase HRas isoform 1; GTPase HRas; Ha-Ras1 proto-oncoprotein; Harvey rat sarcoma viral oncogene homolog; Harvey rat sarcoma viral oncoprotein; Ras family small GTP binding protein H-Ras; c-has/bas p21 protein; p19 H-RasIDX protein; transformation gene: oncogene HAMSV; transforming protein p21; v-Ha-ras Harvey rat sarcoma viral oncogene homolog", "tax_id": 9606, "disease": "Costello syndrome (Disease Ontology:DOID:0050469); cardiomyopathy (Disease Ontology:DOID:0050700); Noonan syndrome 3 (Disease Ontology:DOID:0060581); RASopathy (Disease Ontology:DOID:0080690); epidermal nevus (Disease Ontology:DOID:0111162); large congenital melanocytic nevus (Disease Ontology:DOID:0111359); linear nevus sebaceous syndrome (Disease Ontology:DOID:0111530); intestinal cancer (Disease Ontology:DOID:10155); prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); obsessive-compulsive disorder (Disease Ontology:DOID:10933); urinary bladder cancer (Disease Ontology:DOID:11054); heart disease (Disease Ontology:DOID:114); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); leukemia (Disease Ontology:DOID:1240); autistic disorder (Disease Ontology:DOID:12849); cancer (Disease Ontology:DOID:162); squamous cell carcinoma (Disease Ontology:DOID:1749); autoimmune hepatitis (Disease Ontology:DOID:2048); kidney cancer (Disease Ontology:DOID:263); transitional cell carcinoma (Disease Ontology:DOID:2671); endometrial carcinoma (Disease Ontology:DOID:2871); carcinoma (Disease Ontology:DOID:305); glioblastoma (Disease Ontology:DOID:3068); malignant astrocytoma (Disease Ontology:DOID:3069); high grade glioma (Disease Ontology:DOID:3070); skin benign neoplasm (Disease Ontology:DOID:3165); follicular thyroid carcinoma (Disease Ontology:DOID:3962); papillary thyroid carcinoma (Disease Ontology:DOID:3969); cervical cancer (Disease Ontology:DOID:4362); seminoma (Disease Ontology:DOID:4440); liver cirrhosis (Disease Ontology:DOID:5082); phobic disorder (Disease Ontology:DOID:591); hepatocellular carcinoma (Disease Ontology:DOID:684); liver carcinoma (Disease Ontology:DOID:686); diabetic retinopathy (Disease Ontology:DOID:8947); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:3265); (R-HSA-112412); (R-HSA-1169092); (R-HSA-1236382); (R-HSA-1250196); (R-HSA-1250347); (R-HSA-1433557); (R-HSA-167044); (R-HSA-171007); (R-HSA-179812); (R-HSA-180336); (R-HSA-186763); (R-HSA-1963640); (R-HSA-210993); (R-HSA-2179392); (R-HSA-2424491); (R-HSA-2428933); (R-HSA-2871796); (R-HSA-375165); (R-HSA-3928662); (R-HSA-442982); (R-HSA-5218921); (R-HSA-5621575); (R-HSA-5637810); (R-HSA-5654688); (R-HSA-5654693); (R-HSA-5654699); (R-HSA-5654700); (R-HSA-5654704); (R-HSA-5654706); (R-HSA-5654712); (R-HSA-5654719); (R-HSA-5655253); (R-HSA-5655291); (R-HSA-5655302); (R-HSA-5655332); (R-HSA-5658442); (R-HSA-5673000); (R-HSA-5673001); (R-HSA-5674135); (R-HSA-5675221); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802953); (R-HSA-6802955); (R-HSA-74751); (R-HSA-8849471); (R-HSA-8851805); (R-HSA-9026519); (R-HSA-9027284); (R-HSA-9028731); (R-HSA-9034864); (R-HSA-9607240); (R-HSA-9634285); (R-HSA-9634635); (R-HSA-9648002); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9664565); (R-HSA-9665348); (R-HSA-9665686); (R-HSA-9670439); (R-HSA-9673767); (R-HSA-9673770); (R-HSA-9703465); (R-HSA-9703648); (R-HSA-9753510); (R-HSA-9753512)", "pathway_count": 69, "publication_count": 948, "publication_id_list": 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"class_list": "", "function": "ITPR1-AS1 promotes small cell lung cancer metastasis by facilitating P21[HRAS] splicing and stabilizing DDX3X to activate the cRaf-MEK-ERK cascade., [RefSeq, PubMed]; Mutant HRas Signaling and Rationale for Use of Farnesyltransferase Inhibitors in Head and Neck Squamous Cell Carcinoma. Review article, [RefSeq, PubMed]; Overexpression of wild-type HRAS drives non-alcoholic steatohepatitis to hepatocellular carcinoma in mice., [RefSeq, PubMed]; Signal transducer in the Ras-MAPK signaling pathway that regulates cell proliferation and survival (PubMed:22821884). Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:12740440, PubMed:14500341, PubMed:9020151). Recognized by LZTR1 that mediates its ubiquitination by a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex (PubMed:40934300)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, cognitive disability, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Unraveling the Genetic Web: H-Ras Expression and Mutation in Oral Squamous Cell Carcinoma-A Systematic Review. 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 22, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 37, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B5BUA0;Q14080;Q6FHV9;Q9BR65;Q9UCE2", "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": "2.3.2.27", "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": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.1.1.100", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.100", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "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": "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": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "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": 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"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": "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": "1.14.11.65", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.65", "type": "external" }, { "id": "3.1.31.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.31.1", "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": "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": "3.6.1.6", "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": "3.4.26.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.26.1", "type": "external" }, { "id": "2.3.1.225", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.225", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0043495 protein-membrane adaptor activity;GO:0019003 GDP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000139 Golgi membrane;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0046579 positive regulation of Ras protein signal transduction;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006935 chemotaxis;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 95.1, "record_id": "P01112-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18146-1", "uniprot_id": [ { "id": "EGR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P18146", "type": "external" } ], "mass": 57507.0, "length": 543, "protein_name": "Early growth response protein 1", "gene_name": "EGR1", "organism": "Human", "refseq_name": "early growth response protein 1", "refseq_ac": [ { "id": "NP_001955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001955", "type": "external" } ], "gene_names_uniprotkb": "EGR1; KROX24; ZNF225", "gene_names_refseq": "AT225; EGR1; G0S30; KROX-24; NGFI-A; TIS8; ZIF-268; ZIF268; ZNF225", "protein_names_uniprotkb": "Early growth response protein 1; AT225; EGR-1; NGFI-A; Nerve growth factor-induced protein A; Transcription factor ETR103; Transcription factor Zif268; Zinc finger protein 225; Zinc finger protein Krox-24", "protein_names_refseq": "EGR-1; early growth response protein 1; nerve growth factor-induced protein A; transcription factor ETR103; transcription factor Zif268; zinc finger gene 225; zinc finger protein 225; zinc finger protein Krox-24", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); myelodysplastic syndrome (Disease Ontology:DOID:0050908); silicosis (Disease Ontology:DOID:10325); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); gastric ulcer (Disease Ontology:DOID:10808); pulmonary sarcoidosis (Disease Ontology:DOID:13406); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); aortic valve stenosis (Disease Ontology:DOID:1712); squamous cell carcinoma (Disease Ontology:DOID:1749); arteriosclerosis (Disease Ontology:DOID:2349); asthma (Disease Ontology:DOID:2841); endometriosis (Disease Ontology:DOID:289); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); osteosarcoma (Disease Ontology:DOID:3347); middle cerebral artery infarction (Disease Ontology:DOID:3525); pulmonary fibrosis (Disease Ontology:DOID:3770); lung non-small cell carcinoma (Disease Ontology:DOID:3908); bronchiolo-alveolar adenocarcinoma (Disease Ontology:DOID:4926); pancreatitis (Disease Ontology:DOID:4989); liver cirrhosis (Disease Ontology:DOID:5082); pulmonary hypertension (Disease Ontology:DOID:6432); amphetamine abuse (Disease Ontology:DOID:670); osteoarthritis (Disease Ontology:DOID:8398); lung disease (Disease Ontology:DOID:850); pulmonary emphysema (Disease Ontology:DOID:9675); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:1958); (R-HSA-8943724); (R-HSA-9031628); (R-HSA-909733)", "pathway_count": 4, "publication_count": 266, "publication_id_list": "10203854;10381005;10395669;10542297;10611221;10611312;10656257;10734128;10826704;10872467;10882540;10982844;10984481;11018254;11027551;11092454;11280768;11331872;11337497;11343657;11377645;11378386;11404376;11545734;11567222;11585831;11755530;11781575;11840323;11956230;11959846;12029096;12399542;12511643;12766484;12842042;1377233;14522948;14597720;14769151;14969744;15047845;15102911;15161978;15312780;15449318;15449939;15542842;15620361;1569051;1570299;15733869;15778442;15836632;15880109;16009940;16034366;16136673;16171819;16187211;16221685;16260776;16287845;16339507;16407550;16418168;16484497;16574654;16676006;16702404;16732277;16987978;17088210;17088211;17088212;17251292;1730654;17351669;17632064;17873065;17898216;17969444;17974977;18035202;18056528;18088355;18160048;18172008;1833716;18391013;18456662;18487508;18524893;18575461;1861162;19061646;19116276;19193899;19194657;19440552;19884659;19926875;20068230;20121949;20130243;2017159;20233713;20363028;20363976;2040600;20506119;20516213;2052361;20643137;2072895;21057636;2109185;2110381;21289308;21326363;21486943;21621608;22053691;22065583;2211721;22128185;22302795;2237820;23061660;23121362;23287862;2377485;24060757;24417533;24718924;25248477;25258363;25371710;25569790;25728608;25748042;25999311;26018600;26154972;2676516;26910647;27041596;27128622;27220739;27543614;28076410;28121444;28275114;28286024;28657654;28904123;29351928;29493099;29559111;30379171;30429286;30485383;30620550;30711252;31154438;31217245;3127059;31844290;32032529;32113509;32157095;32161166;32387766;32488085;32502341;32511913;32574262;32661006;32758689;32862111;32938616;32983136;33117408;33123756;33189161;33193462;33392160;33396578;33592498;33912179;34509645;34846842;35041980;35051231;35103892;35254053;35289036;35494241;35580925;36241641;3672127;37541260;37938771;38253038;38642782;38665916;38912889;38926457;39126833;39197193;39302247;39531497;6162102;6548414;688397;7510216;7526154;7537377;7540766;7551568;7592934;7595538;7608156;7624335;7777577;7823924;7857651;7871435;7876254;7923378;8090221;8090222;8197134;8232552;8248782;8413279;8483478;8576248;8583621;8605876;8621447;8662759;8668170;8702790;8756618;8846918;8918830;9032251;9084409;9096384;9121453;9242679;9334213;9343422;9390517;9418898;9622090;9660177;9722618;9770464;9774344;9808461;9822744;9847332;9858769;9861020", "class_list": "", "function": "CXXC5 drove inflammation and ovarian cancer proliferation via transcriptional activation of ZNF143 and EGR1., [RefSeq, PubMed]; Cyclic negative pressure promotes chondrocyte growth: Association of IGF-2 with EGR-1. Publication Status: Online-Only, [RefSeq, PubMed]; Immunoinhibitory effects of hypoxia-driven reprogramming of EGR1[hi] and EGR3 positive B cells in the nasopharyngeal carcinoma microenvironment., [RefSeq, PubMed]; MiR-124-3p downregulates EGR1 to suppress ischemia-hypoxia reperfusion injury in human iPS cell-derived cardiomyocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Mutant p53 achieves function by regulating EGR1 to induce epithelial mesenchymal transition., [RefSeq, PubMed]; The protein encoded by this gene belongs to the EGR family of C2H2-type zinc-finger proteins. It is a nuclear protein and functions as a transcriptional regulator. The products of target genes it activates are required for differentitation and mitogenesis. Studies suggest this is a cancer suppressor gene. [provided by RefSeq, Dec 2014]., [RefSeq]; Transcriptional regulator (PubMed:20121949). Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3'(EGR-site) in the promoter region of target genes (By similarity). Binds double-stranded target DNA, irrespective of the cytosine methylation status (PubMed:25258363, PubMed:25999311). Regulates the transcription of numerous target genes, and thereby plays an important role in regulating the response to growth factors, DNA damage, and ischemia. Plays a role in the regulation of cell survival, proliferation and cell death. Activates expression of p53/TP53 and TGFB1, and thereby helps prevent tumor formation. Required for normal progress through mitosis and normal proliferation of hepatocytes after partial hepatectomy. Mediates responses to ischemia and hypoxia; regulates the expression of proteins such as IL1B and CXCL2 that are involved in inflammatory processes and development of tissue damage after ischemia. Regulates biosynthesis of luteinizing hormone (LHB) in the pituitary (By similarity). Regulates the amplitude of the expression rhythms of clock genes: BMAL1, PER2 and NR1D1 in the liver via the activation of PER1 (clock repressor) transcription. Regulates the rhythmic expression of core-clock gene BMAL1 in the suprachiasmatic nucleus (SCN) (By similarity)., [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": 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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 28, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0070498 interleukin-1-mediated signaling pathway;GO:0060086 circadian temperature homeostasis;GO:0044029 positive regulation of gene expression via chromosomal CpG island demethylation;GO:0002931 response to ischemia;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 28.1, "record_id": "P18146-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94906-1", "uniprot_id": [ { "id": "PRP6_HUMAN", "url": "https://www.uniprot.org/uniprot/O94906", "type": "external" } ], "mass": 106925.0, "length": 941, "protein_name": "Pre-mRNA-processing factor 6", "gene_name": "PRPF6", "organism": "Human", "refseq_name": "pre-mRNA-processing factor 6", "refseq_ac": [ { "id": "NP_036601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036601", "type": "external" } ], "gene_names_uniprotkb": "PRPF6; C20orf14", "gene_names_refseq": "ANT-1; ANT1; C20orf14; PRPF6; Prp6; RP60; SNRNP102; TOM; U5-102K; hPrp6", "protein_names_uniprotkb": "Pre-mRNA-processing factor 6; ANT-1; Androgen receptor N-terminal domain-transactivating protein 1; PRP6 homolog; U5 snRNP-associated 102 kDa protein; U5-102 kDa protein", "protein_names_refseq": "PRP6 homolog; PRP6 pre-mRNA processing factor 6 homolog; U5 snRNP-associated 102 kDa protein; U5-102 kDa protein; androgen receptor N-terminal domain transactivating protein-1; p102 U5 small nuclear ribonucleoprotein particle-binding protein; pre-mRNA-processing factor 6; putative mitochondrial outer membrane protein import receptor", "tax_id": 9606, "disease": "retinitis pigmentosa 60 (Disease Ontology:DOID:0110411)", "pathway": " (hsa:24148); (R-HSA-72163); (R-HSA-72165); (R-HSA-9918481)", "pathway_count": 4, "publication_count": 200, "publication_id_list": "10207048;10561546;10788320;10848612;10882114;11014198;11101529;11233976;11333026;11607023;11747608;11991638;12039962;12176931;12411573;12414731;12477934;14519844;14625303;14713954;14762106;15084397;16314458;16723661;16809785;17095540;17332742;17606899;17940139;18322460;18452278;18593880;18669648;19052544;19103666;19165350;19536130;19691289;20068231;20112406;20118938;20423332;20980672;21536652;21549338;2176635;21911577;22110043;22235333;22365833;22959432;22961380;23186163;23222130;23236153;23345524;23481700;24196718;24275569;24304693;24366607;24448447;24714562;24737827;24914973;2524422;25367160;25418920;25555158;25576301;2558966;25645385;25892735;26092250;26154972;26375851;26385511;26420826;26728094;26811146;26912367;26969736;26992070;27108190;27377154;27459055;27510544;27600516;27683217;27846572;27862975;27920218;28062851;28063628;28076346;28218747;28228285;28502770;28510447;28781166;28832583;28834231;28904123;29242379;29301961;29331515;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632046;29632711;2963332;29769354;29786170;29789417;29902443;30315122;30315277;30379171;30410026;30429286;30484775;30524438;30599162;30705154;30728453;30765414;30779550;30975767;31092671;31217245;31409651;31844290;32157095;32179686;32265295;32329775;32357974;32387766;32488085;32494006;32502341;32897882;32938616;32983136;33141586;33177556;33243851;33298915;33392160;33446560;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34023904;34087483;34171305;34185709;34211107;34301950;34357683;34405274;34509645;34561969;34822310;34932366;35051231;35215846;35385551;35561310;35580925;36010968;36284347;36581221;37217939;3757028;37938771;38665916;39534244;40596516;8566756;8608946;8835860;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:20118938, PubMed:21549338, PubMed:28781166). Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [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": 0, "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": "B2RAR5;B3KMC6;O95109;Q5VXS5;Q9H3Z1;Q9H4T9;Q9H4U8;Q9NTE6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0043021 ribonucleoprotein complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0000375 RNA splicing, via transesterification reactions;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0008380 RNA splicing;GO:0000387 spliceosomal snRNP assembly", "synthesized_glycan_count": 0, "hit_score": 20.6, "record_id": "O94906-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60220-1", "uniprot_id": [ { "id": "TIM8A_HUMAN", "url": "https://www.uniprot.org/uniprot/O60220", "type": "external" } ], "mass": 10998.0, "length": 97, "protein_name": "Mitochondrial import inner membrane translocase subunit Tim8 A", "gene_name": "TIMM8A", "organism": "Human", "refseq_name": "mitochondrial import inner membrane translocase subunit Tim8 A isoform 1", "refseq_ac": [ { "id": "NP_004076", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004076", "type": "external" } ], "gene_names_uniprotkb": "TIMM8A; DDP1; DDP; TIM8A", "gene_names_refseq": "DDP1; DDP; DFN1; MTS; TIM8; TIMM8A", "protein_names_uniprotkb": "Mitochondrial import inner membrane translocase subunit Tim8 A; Deafness dystonia protein 1; X-linked deafness dystonia protein", "protein_names_refseq": "X-linked deafness dystonia protein; deafness dystonia protein 1; deafness/dystonia peptide; mitochondrial import inner membrane translocase subunit Tim8 A isoform 1; mitochondrial import inner membrane translocase subunit Tim8 A; translocase of inner mitochondrial membrane 8 homolog A", "tax_id": 9606, "disease": "deafness-dystonia-optic neuronopathy syndrome (Disease Ontology:DOID:0050757); dystonia (Disease Ontology:DOID:543)", "pathway": " (hsa:1678); (R-HSA-1268020)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10051550;10051608;10878669;11237011;11489896;11803487;11875042;11956200;14726512;15254020;15644312;15683237;16185709;16849325;17510655;18174896;18669648;18678864;19409522;19453276;19651622;19767391;19962426;20593814;21406692;21750375;23041349;23186163;23597483;23811401;25315652;25802875;26697887;26758079;26992070;28510447;29242379;29493099;31844290;31848261;32157095;32820032;32983136;38548519;8841189", "class_list": "", "function": "Exploring the Oncogenic Potential of TIMM8A: A Crucial Factor in Breast Cancer Tumorigenesis., [RefSeq, PubMed]; Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment., [RefSeq, PubMed]; Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins. Probably necessary for normal neurologic development., [UniProtKB, PubMed, PubMed]; This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[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": 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": "B2R5A6;Q6IRW6", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0042719 mitochondrial intermembrane space chaperone complex;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "GO:0007399 nervous system development;GO:0015031 protein transport;GO:0045039 protein insertion into mitochondrial inner membrane", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "O60220-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00220-1", "uniprot_id": [ { "id": "TR10A_HUMAN", "url": "https://www.uniprot.org/uniprot/O00220", "type": "external" } ], "mass": 50089.0, "length": 468, "protein_name": "Tumor necrosis factor receptor superfamily member 10A", "gene_name": "TNFRSF10A", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 10A", "refseq_ac": [ { "id": "NP_003835", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003835", "type": "external" } ], "gene_names_uniprotkb": "TNFRSF10A; APO2; DR4; TRAILR1", "gene_names_refseq": "APO2; CD261; DR4; TNFRSF10A; TRAILR-1; TRAILR1", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 10A; Death receptor 4; TNF-related apoptosis-inducing ligand receptor 1; TRAIL receptor 1; TRAIL-R1", "protein_names_refseq": "TNF-related apoptosis-inducing ligand receptor 1; TRAIL receptor 1; TRAIL-R1; cytotoxic TRAIL receptor; death receptor 4; tumor necrosis factor receptor superfamily member 10A; tumor necrosis factor receptor superfamily, member 10a", "tax_id": 9606, "disease": "mantle cell lymphoma (Disease Ontology:DOID:0050746); urinary bladder cancer (Disease Ontology:DOID:11054); colon cancer (Disease Ontology:DOID:219); breast ductal carcinoma (Disease Ontology:DOID:3007); cervical cancer (Disease Ontology:DOID:4362); renal cell carcinoma (Disease Ontology:DOID:4450); esophagus adenocarcinoma (Disease Ontology:DOID:4914); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); osteoarthritis (Disease Ontology:DOID:8398); multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:8797); (R-HSA-140534); (R-HSA-202733); (R-HSA-3371378); (R-HSA-5213460); (R-HSA-5218900); (R-HSA-6803211); (R-HSA-69416); (R-HSA-75158)", "pathway_count": 9, "publication_count": 171, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10606205;10764623;10777207;10837247;10894160;11207550;11237011;11256994;11382926;11384965;11463813;11564780;11717445;11779189;11812992;12070135;12181749;12198154;12208882;12215447;12469115;12620239;12620240;12782713;12887920;12912912;14529530;14615387;14623878;15000751;15024054;15289308;15289496;15528364;15681301;15721307;15760909;15769996;15814722;1591491;15975957;16230375;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17081983;17099249;17116209;17167768;17172599;17322099;17327223;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;18163425;18165900;18190721;18256533;18485876;18838202;18846110;19090789;19278658;19279206;19416807;19524512;19524513;19615968;19651622;19683492;20068231;20218968;20308068;20353938;20696707;20852190;20951169;21193412;21235526;21659548;21737330;22240897;22265413;22421439;22817896;22898188;23186163;23365256;23498957;23584533;23945545;24043627;24059293;24129315;24190977;24316671;24703947;24764293;24813885;2538457;25813380;26378048;26457518;26992070;27893789;28218747;28834231;28904123;29242379;29632046;29681455;29930286;30459171;30987996;31611695;31844290;32269263;32350084;32561730;32983136;33691108;33912179;33936100;33968037;33981976;34198757;34275891;34342264;34357683;35051231;35052395;35251023;36241641;36284347;38532423;468991;7509040;7521878;7566179;8163559;8166770;8314844;8777713;9052782;9082980;9169774;9242610;9295288;9311998;9326928;9382878;9430227;9693095;9721089;9763524;9880531", "class_list": "", "function": "Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Epigenetic Modification of Death Receptor Genes for TRAIL and TRAIL Resistance in Childhood B-Cell Precursor Acute Lymphoblastic Leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic variations in tumor ecrosis factor related apoptosis-inducing ligand receptor-1 (TRAIL-R1) gene and the susceptibility to b-cell non-hodgkin lymphoma (B-NHL) in Egypt. Erratum:[Cancer Biomark. 2022;33(2):275. doi: 10.3233/CBM-209786. PMID: 35068443], [RefSeq, PubMed]; Oxaliplatin resistance in colorectal cancer enhances TRAIL sensitivity via death receptor 4 upregulation and lipid raft localization. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for the cytotoxic ligand TNFSF10/TRAIL (PubMed:26457518, PubMed:38532423). The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis (PubMed:19090789). Promotes the activation of NF-kappa-B (PubMed:9430227)., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL), and thus transduces cell death signal and induces cell apoptosis. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. [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": 3, "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": 4, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 3, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 10, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A8K5I4;Q53Y72;Q96E62", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0042802 identical protein binding;GO:0045569 TRAIL binding;GO:0038023 signaling receptor activity;GO:0005035 death receptor activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0044853 plasma membrane raft", "go_biological_process": "GO:0007165 signal transduction;GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process;GO:0097191 extrinsic apoptotic signaling pathway;GO:0071260 cellular response to mechanical stimulus", "synthesized_glycan_count": 0, "hit_score": 18.5, "record_id": "O00220-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4K3-1", "uniprot_id": [ { "id": "TRAF6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4K3", "type": "external" } ], "mass": 59573.0, "length": 522, "protein_name": "TNF receptor-associated factor 6", "gene_name": "TRAF6", "organism": "Human", "refseq_name": "TNF receptor-associated factor 6", "refseq_ac": [ { "id": "NP_004611", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004611", "type": "external" } ], "gene_names_uniprotkb": "TRAF6; RNF85", "gene_names_refseq": "MGC:3310; RNF85; TRAF6", "protein_names_uniprotkb": "TNF receptor-associated factor 6; 2.3.2.27; E3 ubiquitin-protein ligase TRAF6; Interleukin-1 signal transducer; RING finger protein 85; RING-type E3 ubiquitin transferase TRAF6", "protein_names_refseq": "E3 ubiquitin-protein ligase TRAF6; RING finger protein 85; RING-type E3 ubiquitin transferase TRAF6; TNF receptor-associated factor 6, E3 ubiquitin protein ligase; TNF receptor-associated factor 6; interleukin-1 signal transducer", "tax_id": 9606, "disease": "intrinsic cardiomyopathy (Disease Ontology:DOID:0060036); hypohidrotic ectodermal dysplasia (Disease Ontology:DOID:14793); laryngeal carcinoma (Disease Ontology:DOID:2600)", "pathway": " (hsa:7189); (R-HSA-1257604); (R-HSA-166058); (R-HSA-168638); (R-HSA-168927); (R-HSA-193692); (R-HSA-202424); (R-HSA-205043); (R-HSA-209543); (R-HSA-209560); (R-HSA-2871837); (R-HSA-445989); (R-HSA-450302); (R-HSA-450321); (R-HSA-5607764); (R-HSA-5689880); (R-HSA-5689896); (R-HSA-6811558); (R-HSA-9014325); (R-HSA-9020702); (R-HSA-933541); (R-HSA-933542); (R-HSA-937039); (R-HSA-937041); (R-HSA-937042); (R-HSA-937072); (R-HSA-9645460); (R-HSA-9692916); (R-HSA-9705671); (R-HSA-975110); (R-HSA-975138); (R-HSA-975144); (R-HSA-975155); (R-HSA-975163); (R-HSA-9758274); (R-HSA-975871)", "pathway_count": 36, "publication_count": 492, "publication_id_list": "10022904;10075690;10094049;10187770;10191262;10224040;10329646;10346818;10383454;10385526;10421793;10444327;10465784;10514433;10514511;10523862;10581243;10635328;10698680;10702308;10716940;10723127;10747026;10764746;10779524;10838074;10854325;10882101;10908663;10918611;10920205;10982817;11053425;11057907;11073981;11087742;11090634;11094434;11147812;11244088;11262391;11323434;11325957;11358993;11460167;11463333;11487608;11544529;11566882;11606584;11751921;11772397;11803464;11884229;11923872;11960013;12019269;12133833;12138165;12140561;12167717;12171911;12221085;12242293;12297423;12447441;12447442;12459498;12473183;12473184;12496252;12514169;12527755;12538665;12604599;12609980;12660731;12692549;12721283;12724322;12759408;12767043;12791687;12791997;12796777;12804775;12843241;12860405;12874243;12913006;12917689;12917691;1325671;14514672;14530355;14625308;14633987;14661020;14739303;14754897;14960584;14982987;15053880;15064760;15105418;15121867;15122200;15125833;15145317;15208624;15258597;15327770;15334086;15361868;15371334;15389287;15465037;15492225;15492226;15496460;15541657;15585605;15620648;15701642;15718470;15767370;15814722;15837794;15845454;15870274;15916963;15917247;15944945;16024789;16056267;16115877;16125763;16153868;16186825;16214042;16221674;16252004;16252010;16260493;16286015;16286016;16289117;16306937;16341139;16356853;16356855;16356856;16378096;16439361;16456541;16547522;16603398;16612002;16630834;16751103;16831874;16884718;16901786;16914100;16951688;16964248;16978534;17035307;17047224;17072321;17135271;17141195;17158449;17200115;17270291;17290220;17303577;17327220;17327397;17363905;17412287;17428801;17443180;17449468;17468049;17485511;17496917;17507369;17548359;17562858;17596301;17675297;17703191;17726518;17728323;17761676;17873522;17878161;17890055;17948050;17980597;17981138;17997719;18070880;18070982;18079694;18093978;18172164;18180283;1828071;1833184;18347055;18438411;18462684;18467330;18632802;18636086;18710948;18724939;18758450;18772140;18794297;18829464;18925875;19015242;19022706;19112497;19135894;19188362;19224918;19264966;19359218;19363159;19380580;19383985;19398035;19398555;19424180;19464428;19465916;19479062;19498957;19509286;19521662;19535145;19576174;19592493;19592497;19666475;19668221;19675569;19713527;19805105;19818707;19825828;19838211;19874889;19903815;19910467;19934406;19935683;19996094;20038579;20043992;20047764;20079715;20096447;20193029;20228808;20300203;20338997;20368735;20434986;20485341;20501646;20538596;20553488;20627800;20628368;20685844;20966070;21239494;21302310;21362556;2139180;2147937;21525931;21571647;21596315;21606490;21659512;21703539;21813773;21827948;21849505;21931591;21962518;21966355;22029577;22046132;22069318;22085928;22124327;22128162;22216260;22253733;22265677;22312431;22454496;22619329;22798961;22941947;23159851;23395819;23453971;23481700;23483519;23486064;23514740;23524951;23776175;23824326;23825189;23827681;24056413;24074955;24260525;24493797;24509444;24586164;24610782;24622840;24722368;24840642;24854014;24896179;25026888;25135833;25197364;25305019;25578727;25736436;25764917;25861989;25904330;25907116;25907557;26240016;26280536;26320399;26378163;26389808;26620909;27164085;27203180;27426725;27466718;27701768;27746020;28087809;28148787;28228285;28467828;28832583;29242379;29294448;2946959;29557506;30111836;30185776;30315122;30455202;31020640;31034780;31231549;31620128;31826938;31844290;31850239;32157095;32350084;32353859;32387766;32428392;32589897;32726803;32728199;32953130;32979938;32983136;33024073;33060197;33097660;33110251;33141586;33349665;33360543;33372174;33372854;33392160;33396605;33440148;33479219;33495715;33514628;33567255;33592498;33654074;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33963333;33968037;33989516;33990585;34021074;34054808;34084167;34110168;34166398;34239064;34290717;34341353;34357683;34375313;34400613;34439781;34452305;34471099;34502139;34597346;34932366;35051231;35102342;35643212;36215666;37051252;39043634;39162488;39192797;39920527;7479848;7499357;7578059;7612269;7628694;7637810;7744773;8327496;8332913;8533096;8550590;8599092;8601309;8622669;8638164;8645157;8837778;8972730;9008162;9020361;9252186;9346484;9362451;9371760;9374458;9430229;9430721;9432981;9575168;9642260;9660935;9687533;9689078;9736715;9744859;9768359;9774460;9774977;9822609;9859996;9865693;9895304;9915784;9989503;9990852;9990853", "class_list": "", "function": "ASB3 expression aggravates inflammatory bowel disease by targeting TRAF6 protein stability and affecting the intestinal microbiota., [RefSeq, PubMed]; E3 ubiquitin ligase that, together with UBE2N and UBE2V1, mediates the synthesis of 'Lys-63'-linked-polyubiquitin chains conjugated to proteins, such as ECSIT, IKBKG, IRAK1, AKT1 and AKT2 (PubMed:11057907, PubMed:18347055, PubMed:19465916, PubMed:19713527, PubMed:27746020, PubMed:31620128). Also mediates ubiquitination of free/unanchored polyubiquitin chain that leads to MAP3K7 activation (PubMed:19675569). Leads to the activation of NF-kappa-B and JUN (PubMed:16378096, PubMed:17135271, PubMed:17703191, PubMed:39920527). Seems to also play a role in dendritic cells (DCs) maturation and/or activation (By similarity). Represses c-Myb-mediated transactivation, in B-lymphocytes (PubMed:18093978, PubMed:18758450). Adapter protein that seems to play a role in signal transduction initiated via TNF receptor, IL-1 receptor and IL-17 receptor (PubMed:12140561, PubMed:19825828, PubMed:8837778). Regulates osteoclast differentiation by mediating the activation of adapter protein complex 1 (AP-1) and NF-kappa-B, in response to RANK-L stimulation (By similarity). Together with MAP3K8, mediates CD40 signals that activate ERK in B-cells and macrophages, and thus may play a role in the regulation of immunoglobulin production (By similarity). Acts as a regulator of the JNK and NF-kappa-B signaling pathways by initiating assembly of heterotypic 'Lys-63'-/'Lys-48'-linked branched ubiquitin chains that are then recognized by TAB2: TRAF6 catalyzes initial 'Lys-63'-linked-polyubiquitin chains that are then branched via 'Lys-48'-linked polyubiquitin by HUWE1 (PubMed:27746020). 'Lys-63'-/'Lys-48'-linked branched ubiquitin chains protect 'Lys-63'-linkages from CYLD deubiquitination (PubMed:27746020). Participates also in the TCR signaling by ubiquitinating LAT (PubMed:23514740, PubMed:25907557)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PRMT6 facilitates EZH2 protein stability by inhibiting TRAF6-mediated ubiquitination degradation to promote glioblastoma cell invasion and migration. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins are associated with, and mediate signal transduction from, members of the TNF receptor superfamily. This protein has an amino terminal RING domain which is followed by four zinc-finger motifs, a central coiled-coil region and a highly conserved carboxyl terminal domain, known as the TRAF-C domain and mediates signaling from members of the TNF receptor superfamily as well as the Toll/IL-1 family. Signals from receptors such as CD40, TNFSF11/RANCE and IL-1 have been shown to be mediated by this protein. This protein also interacts with various protein kinases including IRAK1/IRAK, SRC and PKCzeta, which provides a link between distinct signaling pathways. This protein functions as a signal transducer in the NF-kappaB pathway that activates IkappaB kinase (IKK) in response to proinflammatory cytokines. The interaction of this protein with UBE2N/UBC13, and UBE2V1/UEV1A, which are ubiquitin conjugating enzymes catalyzing the formation of polyubiquitin chains, has been found to be required for IKK activation by this protein. This protein also interacts with the transforming growth factor (TGF) beta receptor complex and is required for Smad-independent activation of the JNK and p38 kinases. The protein encoded by this gene is a key molecule in antiviral innate and antigen-specific immune responses. [provided by RefSeq, Nov 2021]., [RefSeq]; [Research progress on the relationship between TRAF6 and neurodegenerative diseases]. 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 11, "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": "A6NKI7;A8KAB3;D3DR16;Q8NEH5", "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": "2.7.11.10", "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": "2.7.11.25", "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": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "3.4.23.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.-", "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": "3.1.3.48", "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" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0042826 histone deacetylase binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005811 lipid droplet;GO:0005829 cytosol", "go_biological_process": "GO:0030316 osteoclast differentiation;GO:0070498 interleukin-1-mediated signaling pathway;GO:1904996 positive regulation of leukocyte adhesion to vascular endothelial cell;GO:0023035 CD40 signaling pathway;GO:0000045 autophagosome assembly", "synthesized_glycan_count": 0, "hit_score": 49.3, "record_id": "Q9Y4K3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75385-1", "uniprot_id": [ { "id": "ULK1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75385", "type": "external" } ], "mass": 112631.0, "length": 1050, "protein_name": "Serine/threonine-protein kinase ULK1", "gene_name": "ULK1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase ULK1", "refseq_ac": [ { "id": "NP_003556", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003556", "type": "external" } ], "gene_names_uniprotkb": "ULK1; KIAA0722", "gene_names_refseq": "ATG1A; ATG1; ULK1; UNC51; Unc51.1; hATG1", "protein_names_uniprotkb": "Serine/threonine-protein kinase ULK1; 2.7.11.1; ATG1; Autophagy-related protein 1 homolog; Unc-51-like kinase 1; hATG1", "protein_names_refseq": "ATG1 autophagy related 1 homolog; autophagy-related protein 1 homolog; serine/threonine-protein kinase ULK1", "tax_id": 9606, "disease": "mucositis (Disease Ontology:DOID:0080178); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547)", "pathway": " (hsa:8408); (R-HSA-1632852); (R-HSA-5357905); (R-HSA-8854214); (R-HSA-8876198); (R-HSA-8934903)", "pathway_count": 6, "publication_count": 422, "publication_id_list": "10202141;10521396;10818110;10837247;10990452;11038176;11096062;11098060;11146101;11179213;11181075;11427719;11516400;11577081;11689439;11703925;11746448;11784320;11825910;11917121;12058051;12167698;12221131;12244319;12364329;12427552;12475894;12684051;12709429;12944476;12972505;14716293;15024054;15096524;15138286;1516130;15187094;15247254;15258597;15388334;15528189;15561770;15692570;15870263;15878329;15914536;15958533;16055087;16207721;16373702;16395330;16410077;16525024;16525121;16571673;16641372;16682944;16754960;16829951;16829952;16880209;16940348;16950109;16963840;16964243;17043139;17081983;17132146;17189207;17208202;17239822;17287728;17314102;17322306;17344846;17488286;17562788;17574030;17618624;17646400;17658474;17671165;17678623;17702576;17901050;18076383;18094055;18178551;18199687;18319245;18321988;18354496;18367545;18439900;1845915;18466115;18477474;18559336;18585354;18664496;18669648;18691976;18701652;18767875;18779367;18804435;18936157;1900457;19109890;19211835;19278658;19287211;19289468;19322194;19345684;19403694;19413330;19416807;19490898;19584320;19590496;19597335;19620288;19651622;19656848;19664994;19690332;19725050;19729655;19745841;19855179;19898463;19910467;20008558;20059746;20068231;20095038;20116244;20154091;20159109;20159556;20185725;20219915;20304918;20305638;20308558;20363736;20385093;20404108;20434987;20592283;20712405;20713597;20797862;20851765;20921139;20937701;21041651;2115402;21177865;21183348;21187289;21205641;21216617;21235526;21258367;21273506;21330364;21383079;21383122;21406692;21408173;21421921;21445324;21458671;21460621;21460634;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21795849;21819378;21951725;22013193;22065758;22072793;22170151;22171327;22179575;22219378;22267086;22297296;22354037;22365832;22433857;22435550;22498478;22511774;22581368;22595670;22613832;22622570;22648168;22653444;22682742;22705394;22762500;22795129;22848449;22854040;22908308;22983554;23019362;23084991;23091056;23147242;23176487;23176493;23186163;23202584;23220125;23239882;23247405;23263280;23295650;23313255;23333653;23351085;23357852;23372762;23378591;23420520;23444368;23478338;23481700;23524951;23562278;23645161;23678941;23684622;23685627;23713133;23727157;23746843;23839779;23878245;23884233;24098568;24246475;24296415;24323043;24644286;24671035;24694596;24705402;24719330;24726323;24726327;24746696;24747438;24767988;24891604;24917561;24954904;24967941;25040165;25043686;25074980;25126726;25127057;25341920;25343031;25438055;25472813;25484072;25565632;25568151;25576301;25648148;25713415;25891078;25925668;25957282;26055712;26177209;26245486;26344099;26347139;26434594;26538022;26734992;26900751;26925400;26936971;26992070;26997266;27041585;27044746;27103185;27246931;27307491;27329675;27334615;27458237;27545878;27552911;27591049;27731364;27869123;27903966;27935582;28146421;28228285;28401008;28506461;28561066;28806404;28821708;28821724;28832583;28834231;28890335;28903979;28920952;28920954;28978086;29156790;29208687;29233105;29242379;29321306;29393594;29487085;29493099;29557506;29563162;29642005;29786170;30024813;30093610;30146158;30154410;30361438;30410117;30420664;30429286;30517873;30988283;31123703;31366726;31378785;31511692;31733992;31844290;31848261;32157095;32161166;32168879;32320653;32350084;32357974;32387766;32488085;32502341;32693121;32897882;32938616;33037394;33298915;33469115;33633747;33654220;33717175;33898322;33912179;33916918;33968037;33981976;34087483;34162724;34171305;34357683;34363755;34405274;34421918;34509645;34604061;34876703;35051231;35758243;35931119;35941131;36010968;36215666;37306101;39207901;39213022;39229655;39384743;7531702;7628435;7667287;7688123;7911226;8144603;8408203;8522602;8863739;9020086;9020161;9030515;9049422;9065443;9136770;9323142;9590177;9693035;9733780", "class_list": "", "function": "CircFAM188A Regulates Autophagy via miR-670-3p and ULK1 in Epithelial Ovarian Carcinoma., [RefSeq, PubMed]; Inhibition of ULK1/2 and KRAS[G12C] controls tumor growth in preclinical models of lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; MIR937 amplification potentiates ovarian cancer progression by attenuating FBXO16 inhibition on ULK1-mediated autophagy. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine-protein kinase involved in autophagy in response to starvation (PubMed:18936157, PubMed:21460634, PubMed:21795849, PubMed:23524951, PubMed:25040165, PubMed:29487085, PubMed:31123703). Acts upstream of phosphatidylinositol 3-kinase PIK3C3 to regulate the formation of autophagophores, the precursors of autophagosomes (PubMed:18936157, PubMed:21460634, PubMed:21795849, PubMed:25040165, PubMed:39384743). Part of regulatory feedback loops in autophagy: acts both as a downstream effector and negative regulator of mammalian target of rapamycin complex 1 (mTORC1) via interaction with RPTOR (PubMed:21795849). Activated via phosphorylation by AMPK and also acts as a regulator of AMPK by mediating phosphorylation of AMPK subunits PRKAA1, PRKAB2 and PRKAG1, leading to negatively regulate AMPK activity (PubMed:21460634). May phosphorylate ATG13/KIAA0652 and RPTOR; however such data need additional evidences (PubMed:18936157). Plays a role early in neuronal differentiation and is required for granule cell axon formation (PubMed:11146101). Also phosphorylates SESN2 and SQSTM1 to regulate autophagy (PubMed:25040165, PubMed:37306101). Phosphorylates FLCN, promoting autophagy (PubMed:25126726). Phosphorylates AMBRA1 in response to autophagy induction, releasing AMBRA1 from the cytoskeletal docking site to induce autophagosome nucleation (PubMed:20921139). Phosphorylates ATG4B, leading to inhibit autophagy by decreasing both proteolytic activation and delipidation activities of ATG4B (PubMed:28821708)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Starvation-induced autophagy, which requires mAtg9, may rely on an alteration of the steady-state trafficking of mAtg9, in a Atg1-dependent manner., [RefSeq, PubMed]; The ULK1 effector BAG2 regulates autophagy initiation by modulating AMBRA1 localization., [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": 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, 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"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": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "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:0044877 protein-containing complex binding;GO:0051020 GTPase binding", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:0030424 axon", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0008285 negative regulation of cell population proliferation;GO:0010506 regulation of autophagy", "synthesized_glycan_count": 0, "hit_score": 42.6, "record_id": "O75385-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100010001001.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99967-1", "uniprot_id": [ { "id": "CITE2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99967", "type": "external" } ], "mass": 28497.0, "length": 270, "protein_name": "Cbp/p300-interacting transactivator 2", "gene_name": "CITED2", "organism": "Human", "refseq_name": "cbp/p300-interacting transactivator 2 isoform 1", "refseq_ac": [ { "id": "NP_001161860", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161860", "type": "external" } ], "gene_names_uniprotkb": "CITED2; MRG1", "gene_names_refseq": "ASD8; CITED2; MRG-1; MRG1; P35SRJ; VSD2", "protein_names_uniprotkb": "Cbp/p300-interacting transactivator 2; MRG-1; MSG-related protein 1; P35srj", "protein_names_refseq": "Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2; MSG-related protein 1; MSG1-related gene 1; cbp/p300-interacting transactivator 2 isoform 1; melanocyte-specific gene 1-related gene 1", "tax_id": 9606, "disease": "atrial heart septal defect 8 (Disease Ontology:DOID:0110113); ventricular septal defect (Disease Ontology:DOID:1657); congenital heart disease (Disease Ontology:DOID:1682); brain ischemia (Disease Ontology:DOID:2316); osteosarcoma (Disease Ontology:DOID:3347); tetralogy of Fallot (Disease Ontology:DOID:6419)", "pathway": " (hsa:10370); (R-HSA-1234158); (R-HSA-8866906); (R-HSA-8866907); (R-HSA-9614657)", "pathway_count": 5, "publication_count": 118, "publication_id_list": "10102273;10202154;10552932;11063749;11156414;11237011;11581164;11694877;11744733;11777915;11959977;11959990;12586840;12778114;14576824;14594809;14668441;14701673;15051727;15184875;15475956;15509806;15548692;16287139;16698963;16943287;17804822;18158893;18187047;19788888;1998122;2010091;20112406;20978166;21479871;22412893;22735262;23707940;24613356;25418920;25576301;25683712;25892735;26154972;26160453;26375851;26715362;26811146;26929215;26992070;27397612;27561725;27846572;28063628;28228285;28514659;28832583;28904123;29242379;29393594;29508533;29533771;29557506;29605689;29632046;29786170;30315122;30484775;30779550;30833945;31154438;31530632;31844290;31848261;32157095;32161166;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33214242;33298915;33392160;33592498;33691108;33912179;33968037;34087483;34171305;34509645;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37938771;38456293;38922923;39333893;7539918;7836384;8387214;8663540;8756616;8901575;8917528;9000051;9027736;9079689;9632793;9822602;9840812;9887100", "class_list": "", "function": "CITED2 mutations have a causative impact in the development of CHD in humans. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Cited2 is a key regulator of placental development and plasticity. Review article, [RefSeq, PubMed]; Missense mutations in the CITED2 gene may contribute to congenital heart disease. Publication Status: Online-Only, [RefSeq, PubMed]; Sequence variations in GATA4 and CITED2 gene among patients with cardiac septation defects from Xinjiang, China., [RefSeq, PubMed]; The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]., [RefSeq]; Transcriptional coactivator of the p300/CBP-mediated transcription complex. Acts as a bridge, linking TFAP2 transcription factors and the p300/CBP transcriptional coactivator complex in order to stimulate TFAP2-mediated transcriptional activation. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated transcriptional coactivator complex. Stimulates the peroxisome proliferator-activated receptors PPARA transcriptional activity. Enhances estrogen-dependent transactivation mediated by estrogen receptors. Also acts as a transcriptional corepressor; interferes with the binding of the transcription factors HIF1A or STAT2 and the p300/CBP transcriptional coactivator complex. Participates in sex determination and early gonad development by stimulating transcription activation of SRY. Plays a role in controlling left-right patterning during embryogenesis; potentiates transcriptional activation of NODAL-mediated gene transcription in the left lateral plate mesoderm (LPM). Plays an essential role in differentiation of the adrenal cortex from the adrenogonadal primordium (AGP); stimulates WT1-mediated transcription activation thereby up-regulating the nuclear hormone receptor NR5A1 promoter activity. Associates with chromatin to the PITX2 P1 promoter region., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 10, "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": "O95426;Q5VTF4", "ec_number_list": [], "go_molecular_function": "GO:0050693 LBD domain binding;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0019904 protein domain specific binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin;GO:0032991 protein-containing complex", "go_biological_process": "GO:0003156 regulation of animal organ formation;GO:0007530 sex determination;GO:0022409 positive regulation of cell-cell adhesion;GO:0035802 adrenal cortex formation;GO:0060971 embryonic heart tube left/right pattern formation", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q99967-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2C2-1", "uniprot_id": [ { "id": "ARV1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2C2", "type": "external" } ], "mass": 31052.0, "length": 271, "protein_name": "Protein ARV1", "gene_name": "ARV1", "organism": "Human", "refseq_name": "protein ARV1 isoform 1", "refseq_ac": [ { "id": "NP_001333921", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333921", "type": "external" } ], "gene_names_uniprotkb": "ARV1; HT035", "gene_names_refseq": "ARV1; DEE38; EIEE38", "protein_names_uniprotkb": "Protein ARV1; hARV1", "protein_names_refseq": "ARV1 homolog, fatty acid homeostasis modulator; protein ARV1 isoform 1; protein ARV1", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 38 (Disease Ontology:DOID:0080417); lipid storage disease (Disease Ontology:DOID:9455)", "pathway": " (hsa:64801); (R-HSA-191273)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "11063737;11237011;12145310;20663892;23481700;24273168;25558065;26460143;26992070;27270415;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29557506;30315122;31154438;31530632;31844290;32157095;32161166;32165008;32357974;32387766;32462292;32488085;32897882;32938616;32983136;33141586;33298915;33691108;33717175;33912179;33936100;34171305;34296759;34509645;34932366;35051231;35580925;36010968;36284347", "class_list": "", "function": "A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures., [RefSeq, PubMed]; ARV1 plays a role in sphingolipid metabolism and complements yeast ARV1, [RefSeq, PubMed]; Arv1p has a role in sterol movement from the ER and in the ensuing regulation of hepatic cholesterol and bile acid metabolism, [RefSeq, PubMed]; Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins., [RefSeq, PubMed]; Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency., [RefSeq, PubMed]; Mediator of sterol homeostasis involved in sterol uptake, trafficking and distribution into membranes., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Overexpression of human ARV1 could rescue the phenotypes associated with GPI anchor synthesis defect in the yeast arv1Delta mutant. Arv1 function in GPI biosynthesis may be conserved in all eukaryotes, from yeast to humans., [RefSeq, PubMed]; Plays a role as a mediator in the endoplasmic reticulum (ER) cholesterol and bile acid homeostasis (PubMed:11063737, PubMed:12145310, PubMed:20663892). Participates in sterol transport out of the ER and distribution into plasma membranes (PubMed:20663892)., [UniProtKB, PubMed, PubMed, PubMed]; These results implicate ARV1 as a protective factor in lipotoxic diseases due to modulation of fatty acid metabolism., [RefSeq, PubMed]; this gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopathy 38. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8KAI4;Q5VSN7;Q5VSN8;Q5VSN9;Q5VSP0;Q5VSP2;Q9H2H2;Q9H5V6;Q9UFF5", "ec_number_list": [], "go_molecular_function": "GO:0120015 sterol transfer activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane;GO:0032541 cortical endoplasmic reticulum", "go_biological_process": "GO:0032366 intracellular sterol transport;GO:0090181 regulation of cholesterol metabolic process;GO:0006665 sphingolipid metabolic process;GO:0006695 cholesterol biosynthetic process;GO:0032383 regulation of intracellular cholesterol transport", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9H2C2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N1W1-1", "uniprot_id": [ { "id": "ARG28_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N1W1", "type": "external" } ], "mass": 191891.0, "length": 1705, "protein_name": "Rho guanine nucleotide exchange factor 28", "gene_name": "ARHGEF28", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 28 isoform 1", "refseq_ac": [ { "id": "NP_001073948", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073948", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF28; KIAA1998; RGNEF", "gene_names_refseq": "ARHGEF28; RGNEF; RIP2; p190RHOGEF", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 28; 190 kDa guanine nucleotide exchange factor; Rho guanine nucleotide exchange factor; p190-RhoGEF; p190RhoGEF", "protein_names_refseq": "190 kDa guanine nucleotide exchange factor; Rho guanine nucleotide exchange factor (GEF) 28; Rho interacting protein 2; rho guanine nucleotide exchange factor 28 isoform 1; rho-guanine nucleotide exchange factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:64283); (R-HSA-3928662); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106)", "pathway_count": 5, "publication_count": 224, "publication_id_list": "10037681;10219243;10232922;10490598;10523665;10523675;10526156;10574993;10579713;10619026;10699171;10873388;10995436;11058585;11085924;11134074;11207612;11237011;11373293;11396949;11431473;11432776;11580899;11606631;11672528;11680691;11689693;11704860;11747816;11804587;11804589;11804590;11884391;11912491;12056414;12071859;12093360;12195014;12221077;12221096;12473120;12531887;12546821;12650940;12702722;12857875;12877655;14512443;14988728;15023524;15064355;15107133;15302923;15342493;15378065;15485661;15548136;15601624;15611138;15721239;15850391;15866170;15944396;16112081;16116428;16184169;16217026;16298995;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16917499;17077126;17198702;17440041;17548511;17562871;17702745;17765681;17804252;17932950;17942708;17976533;17993462;18158243;18218625;18669648;18802007;18829452;19488899;19494238;19553453;19605563;19635168;19673492;19713215;20030946;20101212;20400958;20591975;20628200;20660154;21148482;21224360;21351730;21373644;21454492;21565175;21576392;21699497;21757538;21865595;21936715;2201922;22096251;22298643;22305756;22673745;22790947;22911862;22992742;23200924;23255595;23434736;23481700;23572525;23870313;24086303;24128008;24259668;24275569;24335996;24352656;24933155;25211221;25425145;25576301;25673874;25704760;26154972;26371245;26529257;26887924;26992070;27145964;27216196;27481945;27986909;28112683;28196833;28584191;28832583;28904123;29146911;29242379;29557506;29632046;29769354;29786170;30429286;30779550;30833945;31105010;31154438;31844290;31848261;31871319;32157095;32203420;32305958;32387766;32488085;32764283;32938616;33141586;33392160;33968037;34171305;34211107;35051231;35422804;35580925;36284347;37074911;39894887;7478585;7479768;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9305890;9418861;9490638;9497316;9535835;9548756;9659915;9670022;9792683;9822605;9829970", "class_list": "", "function": "Circular RNA circRGNEF promotes bladder cancer progression via miR-548/KIF2C axis regulation. Erratum:[Aging (Albany NY). 2023 May 31;15(10):4563-4565. doi: 10.18632/aging.204791. PMID: 37264529], [RefSeq, PubMed]; Expression of a RhoA-Specific Guanine Nucleotide Exchange Factor, p190RhoGEF, in Mouse Macrophages Negatively Affects M1 Polarization and Inflammatory Responses. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a RHOA-specific guanine nucleotide exchange factor regulating signaling pathways downstream of integrins and growth factor receptors. Functions in axonal branching, synapse formation and dendritic morphogenesis. Also functions in focal adhesion formation, cell motility and B-lymphocytes activation. May regulate NEFL expression and aggregation and play a role in apoptosis (By similarity)., [UniProtKB]; Inclusion Formation and Toxicity of the ALS Protein RGNEF and Its Association with the Microtubule Network. Publication Status: Online-Only, [RefSeq, PubMed]; RGNEF is a human homologue of p190RhoGEF, and its RNA is expressed in both brain and spinal cord, [RefSeq, PubMed]; Studies identify Rgnef as a novel regulator of colon carcinoma motility and invasion, and they show that a Rgnef-FAK linkage promotes colon carcinoma progression in vivo., [RefSeq, PubMed]; This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "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": "B2RXG7;B4E3K4;B5MDA3;B7ZW32;E9PC75;Q8NCM7;Q96E37;Q9H6L3;Q9H6W0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0030154 cell differentiation;GO:0048013 ephrin receptor signaling pathway;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0007264 small GTPase-mediated signal transduction;GO:0035023 regulation of Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 22.9, "record_id": "Q8N1W1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3ZCQ8-1", "uniprot_id": [ { "id": "TIM50_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3ZCQ8", "type": "external" } ], "mass": 39646.0, "length": 353, "protein_name": "Mitochondrial import inner membrane translocase subunit TIM50", "gene_name": "TIMM50", "organism": "Human", "refseq_name": "mitochondrial import inner membrane translocase subunit TIM50 isoform 2", "refseq_ac": [ { "id": "NP_001316488", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316488", "type": "external" } ], "gene_names_uniprotkb": "TIMM50; PRO1512; TIM50", "gene_names_refseq": "MGCA9; TIM50L; TIM50; TIMM50", "protein_names_uniprotkb": "Mitochondrial import inner membrane translocase subunit TIM50", "protein_names_refseq": "Tim50-like protein; homolog of yeast Tim50; mitochondrial import inner membrane translocase subunit TIM50 isoform 2; mitochondrial import inner membrane translocase subunit TIM50", "tax_id": 9606, "disease": "3-methylglutaconic aciduria type 9 (Disease Ontology:DOID:0070002); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:92609); (R-HSA-1268020)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "11237011;14654843;14726512;15044455;15254020;15644312;15683237;16008839;16185709;16849325;17510655;18174896;18678864;19409522;19453276;19767391;19962426;20593814;21750375;23041349;23186163;23263864;23597483;23811401;24366607;25315652;25418920;25576301;25645385;26154972;26375851;26697887;26768311;26929215;26992070;27573165;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;29930882;30190335;30192525;30315122;30410026;30484775;30524438;31058414;31844290;32157095;32350084;32357974;32369862;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34185709;34229054;34509645;34561969;34725712;34932366;35019165;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;38665916;38828998;40914422", "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, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; May participate in the release of snRNPs and SMN from the Cajal body., [UniProtKB, PubMed]; Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families., [RefSeq, PubMed]; This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the mitochondrial inner membrane and matrix. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016]., [RefSeq]; Tim50 is important for both mitochondrial function and early neuronal 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q330K1;Q6QA00;Q96FJ5;Q96GY2;Q9H370", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0043021 ribonucleoprotein complex binding;GO:0004722 protein serine/threonine phosphatase activity;GO:0004721 phosphoprotein phosphatase activity;GO:0005134 interleukin-2 receptor binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0001836 release of cytochrome c from mitochondria;GO:0006470 protein dephosphorylation;GO:0030150 protein import into mitochondrial matrix;GO:0007006 mitochondrial membrane organization", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q3ZCQ8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEZ4-1", "uniprot_id": [ { "id": "KMT2C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEZ4", "type": "external" } ], "mass": 541370.0, "length": 4911, "protein_name": "Histone-lysine N-methyltransferase 2C", "gene_name": "KMT2C", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase 2C", "refseq_ac": [ { "id": "NP_733751", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_733751", "type": "external" } ], "gene_names_uniprotkb": "KMT2C; HALR; KIAA1506; MLL3", "gene_names_refseq": "HALR; KLEFS2; KMT2C; MLL3", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase 2C; 2.1.1.364; Homologous to ALR protein; Lysine N-methyltransferase 2C; Myeloid/lymphoid or mixed-lineage leukemia protein 3", "protein_names_refseq": "ALR-like protein; histone-lysine N-methyltransferase 2C; histone-lysine N-methyltransferase MLL3; histone-lysine N-methyltransferase, H3 lysine-4 specific; homologous to ALR protein; lysine (K)-specific methyltransferase 2C; myeloid/lymphoid or mixed-lineage leukemia protein 3", "tax_id": 9606, "disease": "adenoid cystic carcinoma (Disease Ontology:DOID:0080202); Kleefstra syndrome 2 (Disease Ontology:DOID:0080598); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); congenital heart disease (Disease Ontology:DOID:1682); squamous cell carcinoma (Disease Ontology:DOID:1749); laryngeal carcinoma (Disease Ontology:DOID:2600); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); Klatskin's tumor (Disease Ontology:DOID:4927); stomach carcinoma (Disease Ontology:DOID:5517); rheumatoid arthritis (Disease Ontology:DOID:7148); nasopharynx carcinoma (Disease Ontology:DOID:9261)", "pathway": " (hsa:58508); (R-HSA-3214841); (R-HSA-5617472); (R-HSA-8936459); (R-HSA-9772755); (R-HSA-9818564); (R-HSA-9841922); (R-HSA-9909649)", "pathway_count": 8, "publication_count": 273, "publication_id_list": "10425206;10558993;10617663;10777502;10835357;10882139;10949293;11027271;11237011;11718452;11891048;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;16628190;16682010;16805913;16829959;16878130;16892064;16959974;17021013;17081983;17185360;17355966;17428788;17500065;17544230;1756725;17612494;17660710;17671196;17707229;17713478;17761849;17761950;17851529;17925232;17998332;18172012;18316480;18452278;18491316;18598942;18669648;18781158;18829457;18829459;18838386;18838538;19043829;19088198;19103755;19114653;19115252;19124460;19172745;19187761;19232136;19509293;19556245;19608861;19747919;1975088;19782034;19808676;19854132;20018852;20068231;20085832;20339092;20575550;20716525;20876458;20961854;21106533;21124902;21129147;21131905;21131967;21135039;21196496;21220120;21252065;21406692;21725049;21779408;21832073;22099308;22266653;22327296;22569366;22652693;22665483;22705304;22726846;22777353;22879880;22939622;23186163;23219899;23301498;23481700;23508102;23534758;23630040;23995757;24081332;24174538;24244196;24275569;24312487;24368734;24586203;24680668;24714562;24715725;25101834;25135475;25418920;25505266;25561738;25576301;25593305;25645385;2570724;25880248;25913784;26010396;26154972;26324722;26375851;26811146;26886794;26929215;26992070;27503676;27563068;27600516;27698142;27760318;27846572;27862975;27920218;28182322;28398509;28832583;28904123;29069077;29138278;29242379;29393594;29437277;29493099;29557506;29897600;29937342;30059200;30315122;30379171;30385408;30429286;30484775;30620550;31217245;31400120;31485071;31492838;31544921;31844290;32157095;32183950;32350084;32357974;32387766;32488085;32502341;32574038;32860047;32897882;32938616;32938750;32983136;33141586;33298915;33329381;33592498;33633747;33657400;33691108;33717175;33912179;33936100;33968037;33981976;34012049;34019948;34087483;34171305;34211107;34509645;34561969;34932366;34933446;35033534;35051231;35132862;35190547;35251023;35254053;35318648;35439434;35494241;35580925;36010968;36215666;36241641;36284347;36792124;37074911;37217939;37415738;37541260;37938771;38146907;39013459;39165358;39531497;39534244;40307207;7488013;7501971;7831296;7906964;7908827;8521497;8521498;8674428;8759021;9065481;9171241;9218805;9272954;9482740;9744270", "class_list": "", "function": "A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2., [RefSeq, PubMed]; 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:22266653, PubMed:24081332, PubMed:25561738). Likely plays a redundant role with KMT2D in enriching H3K4me1 mark on primed and active enhancer elements (PubMed:24081332)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Mutations in epigenetic regulator KMT2C detected by liquid biopsy are associated with worse survival in prostate cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes., [RefSeq, PubMed]; The modification role and tumor association with a methyltransferase: KMT2C. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008]., [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": 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": 33, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 477, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 14, "glyco_site_count": 30, "binding_glycan_count": 0, "secondary_ac_list": "Q8NC02;Q8NDF6;Q9H9P4;Q9NR13;Q9P222;Q9UDR7", "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:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0042054 histone methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0035097 histone methyltransferase complex;GO:0044666 MLL3/4 complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0032259 methylation;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 30.0, "record_id": "Q8NEZ4-1", "record_type": "protein", "filter_code": "0000000.1100111.000100.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53779-1", "uniprot_id": [ { "id": "MK10_HUMAN", "url": "https://www.uniprot.org/uniprot/P53779", "type": "external" } ], "mass": 52585.0, "length": 464, "protein_name": "Mitogen-activated protein kinase 10", "gene_name": "MAPK10", "organism": "Human", "refseq_name": "mitogen-activated protein kinase 10 isoform 5", "refseq_ac": [ { "id": "NP_001304996", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304996", "type": "external" } ], "gene_names_uniprotkb": "MAPK10; JNK3A; JNK3; PRKM10; SAPK1B", "gene_names_refseq": "JNK3A; JNK3; MAPK10; PRKM10; SAPK1b; p493F12; p54bSAPK", "protein_names_uniprotkb": "Mitogen-activated protein kinase 10; 2.7.11.24; MAP kinase 10; MAP kinase p49 3F12; MAPK 10; SAPK1b; Stress-activated protein kinase 1b; Stress-activated protein kinase JNK3; c-Jun N-terminal kinase 3", "protein_names_refseq": "JNK3 alpha protein kinase; MAP kinase 10; MAP kinase p49 3F12; c-Jun N-terminal kinase 3; mitogen-activated protein kinase 10 isoform 5; stress activated protein kinase beta; stress-activated protein kinase 1b; stress-activated protein kinase JNK3", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); pancreatic adenocarcinoma (Disease Ontology:DOID:4074)", "pathway": " (hsa:5602); (R-HSA-2559580); (R-HSA-2871796); (R-HSA-450321); (R-HSA-450341)", "pathway_count": 5, "publication_count": 121, "publication_id_list": "10026222;10347217;10395673;10523831;10715136;10722742;10772813;10871633;10878576;11007481;11062067;11237011;11278486;11306453;11340169;11564866;11718727;11804587;11823425;12134156;12189133;12193592;12421820;12435631;12670394;12808055;13130464;14507994;14532106;15287722;15548136;15563468;15693750;15837794;15866172;15911620;16186825;16249883;16337592;16436515;16611996;16737965;16826196;17210787;17254968;17255097;17332741;17344414;17395714;17540168;17761173;17765224;17825402;17875933;18365017;18435604;18793328;19124833;19451217;19451218;19462008;19528227;19574218;19592646;19651622;19909365;21941371;21986495;22020331;22325352;22327296;22336108;22441692;22683641;25576301;28218747;31844290;33691108;33774030;34502556;35051231;39894887;7535770;7588633;7816143;7826642;7855889;7859739;7997270;8001816;8078588;8259215;8319905;8493579;8533096;8622669;8622688;8626550;8654373;8663278;8673706;8702662;8741839;8774846;8846784;8974401;8986718;8995445;9030721;9099726;9162092;9195981;9199344;9529249;9564042;9628874;9639556;9739089;9768359;9824166;9989831", "class_list": "", "function": "Genetic variants in MAPK10 modify renal cell carcinoma susceptibility and clinical outcomes., [RefSeq, PubMed]; Responds to activation by environmental stress and pro-inflammatory cytokines by phosphorylating a number of transcription factors, and thus regulates transcriptional activity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Serine/threonine-protein kinase involved in various processes such as neuronal proliferation, differentiation, migration and programmed cell death. Extracellular stimuli such as pro-inflammatory cytokines or physical stress stimulate the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK10/JNK3. In turn, MAPK10/JNK3 phosphorylates a number of transcription factors, primarily components of AP-1 such as JUN and ATF2 and thus regulates AP-1 transcriptional activity. Plays regulatory roles in the signaling pathways during neuronal apoptosis. Phosphorylates the neuronal microtubule regulator STMN2. Acts in the regulation of the amyloid-beta precursor protein/APP signaling during neuronal differentiation by phosphorylating APP. Also participates in neurite growth in spiral ganglion neurons. Phosphorylates the CLOCK-BMAL1 heterodimer and plays a role in the photic regulation of the circadian clock (PubMed:22441692). Phosphorylates JUND and this phosphorylation is inhibited in the presence of MEN1 (PubMed:22327296)., [UniProtKB, PubMed, PubMed, PubMed]; The Roles of c-Jun N-Terminal Kinase (JNK) in Infectious Diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system, and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 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": 7, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 6, "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": "A6NFS3;A6NG28;B3KQ94;Q15707;Q49AP1", "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:0004705 JUN kinase activity;GO:0004708 MAP kinase kinase activity;GO:0106310 protein serine kinase activity;GO:0004707 MAP kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0007254 JNK cascade;GO:0042752 regulation of circadian rhythm;GO:0048511 rhythmic process", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "P53779-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21580-1", "uniprot_id": [ { "id": "TNAP3_HUMAN", "url": "https://www.uniprot.org/uniprot/P21580", "type": "external" } ], "mass": 89614.0, "length": 790, "protein_name": "Tumor necrosis factor alpha-induced protein 3", "gene_name": "TNFAIP3", "organism": "Human", "refseq_name": "tumor necrosis factor alpha-induced protein 3", "refseq_ac": [ { "id": "NP_001257436", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257436", "type": "external" } ], "gene_names_uniprotkb": "TNFAIP3; OTUD7C", "gene_names_refseq": "A20; AIFBL1; AISBL; OTUD7C; TNFA1P2; TNFAIP3", "protein_names_uniprotkb": "Tumor necrosis factor alpha-induced protein 3; 2.3.2.-; 3.4.19.12; OTU domain-containing protein 7C; Putative DNA-binding protein A20; TNF alpha-induced protein 3; Zinc finger protein A20", "protein_names_refseq": "OTU domain-containing protein 7C; putative DNA-binding protein A20; tumor necrosis factor alpha-induced protein 3; tumor necrosis factor inducible protein A20; tumor necrosis factor, alpha induced protein 3; zinc finger protein A20", "tax_id": 9606, "disease": "familial Behcet-like autoinflammatory syndrome (Disease Ontology:DOID:0080944); breast cancer (Disease Ontology:DOID:1612); colon cancer (Disease Ontology:DOID:219); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); cholangiocarcinoma (Disease Ontology:DOID:4947); esophageal cancer (Disease Ontology:DOID:5041); stomach carcinoma (Disease Ontology:DOID:5517); hepatocellular carcinoma (Disease Ontology:DOID:684); ulcerative colitis (Disease Ontology:DOID:8577); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261)", "pathway": " (hsa:7128); (R-HSA-168638); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-5357956); (R-HSA-5689896); (R-HSA-936440)", "pathway_count": 7, "publication_count": 209, "publication_id_list": 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"class_list": "", "function": "A20 in Kidney Transplantation and Autoimmunity. Review article Publication Status: Online-Only, [RefSeq, PubMed]; A20 promoted the phagocytosis of lymphoma cells by dendritic cells from activated B-cell-like non-Hodgkin lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; Dysregulation of TNF-induced protein 3 and CCAAT/enhancer-binding protein beta in alveolar macrophages: Implications for systemic sclerosis-associated interstitial lung disease., [RefSeq, PubMed]; Hepatitis B surface antigen impairs TLR4 signaling by upregulating A20 expression in monocytes., [RefSeq, PubMed]; TNFAIP3 Overexpression Inhibits Diffuse Large B-Cell Lymphoma Progression by Promoting Autophagy through TLR4/MyD88/NF-kappaB Signaling Pathway., [RefSeq, PubMed]; This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012]., [RefSeq]; Ubiquitin-editing enzyme that contains both ubiquitin ligase and deubiquitinase activities. Involved in immune and inflammatory responses signaled by cytokines, such as TNF and IL-1 beta, or pathogens via Toll-like receptors (TLRs) through terminating NF-kappa-B activity. Essential component of a ubiquitin-editing protein complex, comprising also RNF11, ITCH and TAX1BP1, that ensures the transient nature of inflammatory signaling pathways. In cooperation with TAX1BP1 promotes disassembly of E2-E3 ubiquitin protein ligase complexes in IL-1R and TNFR-1 pathways; affected are at least E3 ligases TRAF6, TRAF2 and BIRC2, and E2 ubiquitin-conjugating enzymes UBE2N and UBE2D3. In cooperation with TAX1BP1 promotes ubiquitination of UBE2N and proteasomal degradation of UBE2N and UBE2D3. Upon TNF stimulation, deubiquitinates 'Lys-63'-polyubiquitin chains on RIPK1 and catalyzes the formation of 'Lys-48'-polyubiquitin chains. This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NF-kappa-B. Deubiquitinates TRAF6 probably acting on 'Lys-63'-linked polyubiquitin. Upon T-cell receptor (TCR)-mediated T-cell activation, deubiquitinates 'Lys-63'-polyubiquitin chains on MALT1 thereby mediating disassociation of the CBM (CARD11:BCL10:MALT1) and IKK complexes and preventing sustained IKK activation. Deubiquitinates NEMO/IKBKG; the function is facilitated by TNIP1 and leads to inhibition of NF-kappa-B activation. Upon stimulation by bacterial peptidoglycans, probably deubiquitinates RIPK2. Can also inhibit I-kappa-B-kinase (IKK) through a non-catalytic mechanism which involves polyubiquitin; polyubiquitin promotes association with IKBKG and prevents IKK MAP3K7-mediated phosphorylation. Targets TRAF2 for lysosomal degradation. In vitro able to deubiquitinate 'Lys-11'-, 'Lys-48'- and 'Lys-63' polyubiquitin chains. Inhibitor of programmed cell death. Has a role in the function of the lymphoid system. Required for LPS-induced production of pro-inflammatory cytokines and IFN beta in LPS-tolerized macrophages., [UniProtKB, PubMed, PubMed, PubMed, PubMed, 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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 25, "reported_glycation": 0, "reported_snv": 43, "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": "B2R767;E1P588;Q2HIX9;Q5VXQ7;Q9NSR6", "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": "2.7.11.25", "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": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" } ], "go_molecular_function": "GO:0002020 protease binding;GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0019900 kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0005764 lysosome", "go_biological_process": "GO:2000347 positive regulation of hepatocyte proliferation;GO:0002677 negative regulation of chronic inflammatory response;GO:0050691 regulation of defense response to virus by host;GO:0032703 negative regulation of interleukin-2 production;GO:0090291 negative regulation of osteoclast proliferation", "synthesized_glycan_count": 0, "hit_score": 21.2, "record_id": "P21580-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBL0-1", "uniprot_id": [ { "id": "ARP21_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBL0", "type": "external" } ], "mass": 89196.0, "length": 812, "protein_name": "cAMP-regulated phosphoprotein 21", "gene_name": "ARPP21", "organism": "Human", "refseq_name": "cAMP-regulated phosphoprotein 21 isoform 2", "refseq_ac": [ { "id": "NP_001020239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020239", "type": "external" } ], "gene_names_uniprotkb": "ARPP21; TARPP", "gene_names_refseq": "ARPP-21; ARPP21; R3HDM3; RCS; TARPP", "protein_names_uniprotkb": "cAMP-regulated phosphoprotein 21; ARPP-21; Thymocyte cAMP-regulated phosphoprotein", "protein_names_refseq": "R3H domain containing 3; cAMP regulated phosphoprotein 21kDa; cAMP-regulated phosphoprotein 21 isoform 2; cyclic AMP-regulated phosphoprotein, 21 kD; thymocyte cAMP-regulated phosphoprotein", "tax_id": 9606, "disease": "", "pathway": " (hsa:10777)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10854908;10931946;11237011;15096520;15144186;19651622;19690332;24127197;25892735;28218747;28657654;30379171;31653410;33581934;35051231;8120638", "class_list": "", "function": "Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis., [RefSeq, PubMed]; Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability., [RefSeq, PubMed]; Isoform 2 may act as a competitive inhibitor of calmodulin-dependent enzymes such as calcineurin in neurons., [UniProtKB]; Mutation analysis of GLT8D1 and ARPP21 genes in amyotrophic lateral sclerosis patients from mainland China., [RefSeq, PubMed]; This gene encodes a cAMP-regulated phosphoprotein. The encoded protein is enriched in the caudate nucleus and cerebellar cortex. A similar protein in mouse may be involved in regulating the effects of dopamine in the basal ganglia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 34, "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": "B4DG96;Q49AK3;Q49AS6;Q4G0V4;Q6NYC3;Q86V31;Q9UF93", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0003676 nucleic acid binding;GO:0003730 mRNA 3'-UTR binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q9UBL0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13330-1", "uniprot_id": [ { "id": "MTA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13330", "type": "external" } ], "mass": 80786.0, "length": 715, "protein_name": "Metastasis-associated protein MTA1", "gene_name": "MTA1", "organism": "Human", "refseq_name": "metastasis-associated protein MTA1 isoform MTA1s", "refseq_ac": [ { "id": "NP_001190187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001190187", "type": "external" } ], "gene_names_uniprotkb": "MTA1", "gene_names_refseq": "MTA1", "protein_names_uniprotkb": "Metastasis-associated protein MTA1", "protein_names_refseq": "metastasis associated gene 1 protein; metastasis-associated protein MTA1 isoform MTA1s", "tax_id": 9606, "disease": "", "pathway": " (hsa:9112); (R-HSA-3214815); (R-HSA-3232118); (R-HSA-427389); (R-HSA-73762); (R-HSA-8943724); (R-HSA-9679191); (R-HSA-9843940); (R-HSA-9844594); (R-HSA-9845323); (R-HSA-9937850); (R-HSA-9940951); (R-HSA-9976102)", "pathway_count": 13, "publication_count": 253, "publication_id_list": "10082553;10087012;10204490;10330177;10444591;10449787;10748112;10904264;10913176;10922406;10926844;10970879;10978333;11237011;11250901;11378386;11509652;11545734;11739383;11742974;11781575;11909966;11959841;11959846;12032298;12072434;12167865;12183469;12356736;12393749;12419226;12419227;12504854;12724404;12869583;14536086;15077195;15247228;15254226;15302935;15456747;1547496;15494207;15507434;15516265;15643425;15701600;15882967;16115318;16186106;16415179;16418168;16428440;16522641;16567619;16617102;16676006;16702404;16707490;16781829;16807247;16954381;16964243;17081983;17211407;17283066;17318177;17322306;17646674;17662961;17671180;17873065;17922032;17974977;18082607;18172008;18220336;18374648;18391013;18487508;18571423;18617891;18656484;18669648;18691976;18767875;19413330;19415658;19440552;19651622;19664994;19664995;19690332;19691289;19744555;19805145;19837670;19884659;20016603;20068231;20166139;20209145;20223979;20233713;2028256;20516213;20523938;20547755;20682799;21098080;21289308;21375726;21406692;21490301;21587264;21900752;21965678;22022399;22128185;22253283;22398447;22401777;22552008;22684280;22814904;22926524;23186163;23239876;23287862;23361464;23417673;23481700;23641311;24252660;24272870;24307175;24385926;24390485;24413532;24554700;24584101;24715725;24718924;24782567;24835590;24920672;24970816;25114211;25150861;25218447;25274305;25418920;25505266;25576301;25593309;25645385;25728608;25753662;25801024;25880248;26002965;26073453;26101246;26768311;26813693;26910647;26992070;27418187;27418309;27633282;27732854;27806305;27846572;27920218;27935866;2805069;28228285;28273063;28425720;28533432;28657654;28832583;28834231;28904123;28977666;29042441;29242379;29393594;29485866;29508533;29557506;29632711;29786170;29945920;30045876;30122475;30134174;30201761;30228260;30327463;30429286;30596107;30980593;31048504;31289231;31427381;31746185;31844290;32157095;32357974;32387766;32502341;32938616;32983136;33141586;33264408;33283408;33298915;33537174;33592498;33936100;33968037;33981976;34019948;34509645;34561969;34725712;35051231;35580925;36008597;36010968;36210748;36241641;36689059;37938771;38359823;40596516;40914422;7491500;7513682;7607577;7801123;7969165;8083195;8769649;9016654;9150135;9427644;9512513;9651585;9790534;9804427;9885572", "class_list": "", "function": "Binds to ESR1 and sequesters it in the cytoplasm and enhances its non-genomic responses., [UniProtKB, PubMed]; MTA1 as negative prognostic marker in vulvar carcinoma., [RefSeq, PubMed]; MTA1s interacts with CKI-gamma2 in vitro and in vivo and colocalizes in the cytoplasm, [RefSeq, PubMed]; Metastasis-associated protein 1: A potential driver and regulator of the hallmarks of cancer. Review article, [RefSeq, PubMed]; Naturally occurring short form that contains a previously unknown sequence of 33 amino acids with an ER-binding motif, Leu-Arg-Ile-Leu-Leu (LRILL); MTA1s localizes in the cytoplasm, sequesters ER in the cytoplasm, and enhances non-genomic responses of ER, [RefSeq, PubMed]; Structure and antiestrogenic activity of the unique C-terminal, NR-box motif-containing region of MTA1 Erratum:[J Biol Chem. 2013 Sep 20;288(38):27518], [RefSeq, PubMed]; This gene encodes a protein that was identified in a screen for genes expressed in metastatic cells, specifically, mammary adenocarcinoma cell lines. Expression of this gene has been correlated with the metastatic potential of at least two types of carcinomas although it is also expressed in many normal tissues. The role it plays in metastasis is unclear. It was initially thought to be the 70kD component of a nucleosome remodeling deacetylase complex, NuRD, but it is more likely that this component is a different but very similar protein. These two proteins are so closely related, though, that they share the same types of domains. These domains include two DNA binding domains, a dimerization domain, and a domain commonly found in proteins that methylate DNA. The profile and activity of this gene product suggest that it is involved in regulating transcription and that this may be accomplished by chromatin remodeling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]., [RefSeq]; Transcriptional coregulator which can act as both a transcriptional corepressor and coactivator (PubMed:16617102, PubMed:17671180, PubMed:17922032, PubMed:21965678, PubMed:24413532). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:28977666). In the NuRD complex, regulates transcription of its targets by modifying the acetylation status of the target chromatin and cofactor accessibility to the target DNA (PubMed:17671180). In conjunction with other components of NuRD, acts as a transcriptional corepressor of BRCA1, ESR1, TFF1 and CDKN1A (PubMed:17922032, PubMed:24413532). Acts as a transcriptional coactivator of BCAS3, and SUMO2, independent of the NuRD complex (PubMed:16617102, PubMed:17671180, PubMed:21965678). Stimulates the expression of WNT1 by inhibiting the expression of its transcriptional corepressor SIX3 (By similarity). Regulates p53-dependent and -independent DNA repair processes following genotoxic stress (PubMed:19837670). Regulates the stability and function of p53/TP53 by inhibiting its ubiquitination by COP1 and MDM2 thereby regulating the p53-dependent DNA repair (PubMed:19837670). Plays a role in the regulation of the circadian clock and is essential for the generation and maintenance of circadian rhythms under constant light and for normal entrainment of behavior to light-dark (LD) cycles (By similarity). Positively regulates the CLOCK-BMAL1 heterodimer mediated transcriptional activation of its own transcription and the transcription of CRY1 (By similarity). Regulates deacetylation of BMAL1 by regulating SIRT1 expression, resulting in derepressing CRY1-mediated transcription repression (By similarity). With TFCP2L1, promotes establishment and maintenance of pluripotency in embryonic stem cells (ESCs) and inhibits endoderm differentiation (By similarity)., [UniProtKB, 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": 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": 12, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 16, "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": "A5PLK4;Q86SW2;Q8NFI8;Q96GI8", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0042826 histone deacetylase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 25.9, "record_id": "Q13330-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15276-1", "uniprot_id": [ { "id": "RABE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15276", "type": "external" } ], "mass": 99290.0, "length": 862, "protein_name": "Rab GTPase-binding effector protein 1", "gene_name": "RABEP1", "organism": "Human", "refseq_name": "rab GTPase-binding effector protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001077054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077054", "type": "external" } ], "gene_names_uniprotkb": "RABEP1; RAB5EP; RABPT5A; RABPT5", "gene_names_refseq": "RAB5EP; RABEP1; RABPT5", "protein_names_uniprotkb": "Rab GTPase-binding effector protein 1; Rabaptin-4; Rabaptin-5alpha; Rabaptin-5; Renal carcinoma antigen NY-REN-17", "protein_names_refseq": "neurocrescin; rab GTPase-binding effector protein 1 isoform 2; rab GTPase-binding effector protein 1; rabaptin-4; rabaptin-5alpha; rabaptin-5; renal carcinoma antigen NY-REN-17", "tax_id": 9606, "disease": "", "pathway": " (hsa:9135); (R-HSA-8854214)", "pathway_count": 2, "publication_count": 94, "publication_id_list": "10.1101/2023.09.13.557529;10202141;10508479;10698684;11237011;11452015;12505986;12773381;14665628;15378032;16055087;16395330;16964243;17081983;17322306;17658474;17901050;18088087;18199687;18319245;18452278;18466115;18669648;18767875;19413330;19608861;19651622;19664994;19690332;20068231;20095038;20098723;20116244;20363736;20404108;20682791;21383079;21406692;21458671;22219378;22613832;22762500;22795129;22841712;22854040;22975325;23019362;23186163;23481700;23562278;24275569;24714562;25576301;26728094;27920218;28832583;29242379;29493099;29508533;29557506;29786170;30315122;30429286;30524438;30573663;30779550;31020640;31154438;31222486;31530632;31844290;31848261;32157095;32350084;32502341;32897882;32938616;32983136;33592498;33691108;33717175;33912179;33968037;33981976;34357683;35051231;35154160;35580925;36010968;36241641;8521472;9045618;9321397;9323142", "class_list": "", "function": "Rab effector protein acting as linker between gamma-adaptin, RAB4A and RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Involved in KCNH1 channels trafficking to and from the cell membrane (PubMed:22841712). Forms a complex with RABGEF1 that stimulates RABGEF1-mediated nucleotide exchange on RAB5A (PubMed:9323142). Mediates the traffic of PKD1:PKD2 complex from the endoplasmic reticulum through the Golgi to the cilium (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, 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": 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": 13, "reported_mutagensis": 30, "reported_glycation": 0, "reported_snv": 12, "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": "B2RAG7;O95369;Q8IVX3", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0019904 protein domain specific binding;GO:0042803 protein homodimerization activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005768 endosome;GO:0005769 early endosome;GO:0005829 cytosol;GO:0055037 recycling endosome", "go_biological_process": "GO:0006897 endocytosis;GO:0015031 protein transport;GO:0006915 apoptotic process;GO:0016192 vesicle-mediated transport;GO:0061025 membrane fusion", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q15276-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96N21-1", "uniprot_id": [ { "id": "AP4AT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96N21", "type": "external" } ], "mass": 55137.0, "length": 525, "protein_name": "AP-4 complex accessory subunit Tepsin", "gene_name": "TEPSIN", "organism": "Human", "refseq_name": "AP-4 complex accessory subunit tepsin isoform 2", "refseq_ac": [ { "id": "NP_653280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653280", "type": "external" } ], "gene_names_uniprotkb": "TEPSIN; C17orf56; ENTHD2", "gene_names_refseq": "C17orf56; ENTHD2; TEPSIN", "protein_names_uniprotkb": "AP-4 complex accessory subunit Tepsin; ENTH domain-containing protein 2; Epsin for AP-4; Tetra-epsin", "protein_names_refseq": "AP-4 accessory protein; AP-4 complex accessory subunit tepsin isoform 2; AP-4 complex accessory subunit tepsin; ENTH domain containing 2; ENTH domain-containing protein 2; epsin for AP-4; tetra-epsin", "tax_id": 9606, "disease": "", "pathway": " (hsa:146705)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;18220336;18691976;20068231;22424782;22472443;23186163;23301498;23481700;25576301;26542808;26756312;28228285;28904123;29485866;29632711;30315122;30779550;31844290;31998317;32357974;32387766;32502341;32938616;33691108;33912179;33968037;33981976;34087483;34509645;35051231;35318648;36241641;37938771", "class_list": "", "function": "Associates with the adapter-like complex 4 (AP-4) and may therefore play a role in vesicular trafficking of proteins at the trans-Golgi network., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; The bivalency of the interactions contributes to a higher avidity of tepsin for AP-4., [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": 5, "reported_mutagensis": 30, "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": "Q6ZQU0;Q6ZSQ9", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0032588 trans-Golgi network membrane;GO:0031090 organelle membrane;GO:0030662 coated vesicle membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q96N21-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQ79-1", "uniprot_id": [ { "id": "CRAC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQ79", "type": "external" } ], "mass": 71421.0, "length": 661, "protein_name": "Cartilage acidic protein 1", "gene_name": "CRTAC1", "organism": "Human", "refseq_name": "cartilage acidic protein 1 isoform B precursor", "refseq_ac": [ { "id": "NP_001193457", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193457", "type": "external" } ], "gene_names_uniprotkb": "CRTAC1; ASPIC1; CEP68", "gene_names_refseq": "ASPIC1; ASPIC; CEP-68; CRTAC1; LOTUS", "protein_names_uniprotkb": "Cartilage acidic protein 1; 68 kDa chondrocyte-expressed protein; ASPIC; CEP-68", "protein_names_refseq": "acidic secreted protein in cartilage; cartilage acidic protein 1 isoform B precursor; chondrocyte expressed protein 68 kDa CEP-68", "tax_id": 9606, "disease": "", "pathway": " (hsa:55118)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11139377;11237011;17074475;19664995;21872626;25645385;27452731;27600516;27726376;29557506;30459171;31844290;32157095;34185709;34411563;35051231;35580925;36410635;37039559;38755183;39029889", "class_list": "", "function": "CRTAC1 acquired an alternate last exon from the tail-to-tail oriented neighbouring gene in humans resulting in the glycosylated isoform CRTAC1-A which represents a new extracellular matrix molecule of articular cartilage., [RefSeq, PubMed]; CRTAC1 has a Compact beta-propeller-TTR Core Stabilized by Potassium Ions., [RefSeq, PubMed]; CRTAC1 identified as a promising diagnosis and prognostic biomarker in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Proteomic Analyses of Autologous Chondrocyte Implantation Plasma Highlight Cartilage Acidic Protein 1 as a Candidate for Preclinical Screening., [RefSeq, PubMed]; The oncogenic role of TFAP2A in bladder urothelial carcinoma via a novel long noncoding RNA TPRG1-AS1/DNMT3A/CRTAC1 axis., [RefSeq, PubMed]; This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]., [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": 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": 38, "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": "B1ALN4;Q5T4F8;Q8N4H6;Q8TE52;Q9NQ78;Q9NQ80;Q9NW46", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0014069 postsynaptic density;GO:0030426 growth cone;GO:0070062 extracellular exosome", "go_biological_process": "GO:0051963 regulation of synapse assembly;GO:0007413 axonal fasciculation", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9NQ79-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95376-1", "uniprot_id": [ { "id": "ARI2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95376", "type": "external" } ], "mass": 57819.0, "length": 493, "protein_name": "E3 ubiquitin-protein ligase ARIH2", "gene_name": "ARIH2", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase ARIH2 isoform a", "refseq_ac": [ { "id": "NP_001304262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304262", "type": "external" } ], "gene_names_uniprotkb": "ARIH2; ARI2; HT005; TRIAD1", "gene_names_refseq": "ARI2; ARIH2; TRIAD1", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase ARIH2; 2.3.2.31; ARI-2; Protein ariadne-2 homolog; Triad1 protein", "protein_names_refseq": "E3 ubiquitin-protein ligase ARIH2 isoform a; E3 ubiquitin-protein ligase ARIH2; RING-type E3 ubiquitin transferase ARIH2; all-trans retinoic acid inducible RING finger; ariadne homolog 2; protein ariadne-2 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:10425); (R-HSA-983168)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10422847;10880484;10931946;11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16118314;16595681;16849449;16954532;17525332;17646546;18662542;19028597;19340006;19352404;19452197;19489725;19851334;19874575;19940261;2261476;23186163;24076655;25576301;25892735;26992070;27846572;28218747;28228285;28510447;28514659;28832583;28904123;29242379;29437277;29493099;29557506;29769354;30192525;30429286;30587576;31154438;31217245;31253590;31844290;32157095;32387766;32938616;33268465;33968037;33981976;34185709;34509645;34518685;35051231;35318648;35732617;36010968;36241641;36754086;38418882;40914422;9380723;9668046", "class_list": "", "function": "(Microbial infection) Following infection by HIV-1 virus, acts together with a cullin-5-RING E3 ubiquitin-protein ligase complex (ECS complex) hijacked by the HIV-1 Vif protein, to catalyze ubiquitination and degradation of APOBEC3F and APOBEC3G., [UniProtKB, PubMed, PubMed]; ARIH2 regulates the proliferation, DNA damage and chemosensitivity of gastric cancer cells by reducing the stability of p21 via ubiquitination. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin-protein ligase, which catalyzes ubiquitination of target proteins together with ubiquitin-conjugating enzyme E2 UBE2L3 (PubMed:16118314, PubMed:17646546, PubMed:19340006, PubMed:24076655, PubMed:33268465, PubMed:34518685, PubMed:38418882). Acts as an atypical E3 ubiquitin-protein ligase by working together with cullin-5-RING ubiquitin ligase complex (ECS complex, also named CRL5 complex) and initiating ubiquitination of ECS substrates: associates with ECS complex and specifically mediates addition of the first ubiquitin on ECS targets (PubMed:33268465, PubMed:34518685, PubMed:38418882). The initial ubiquitin is then elongated (PubMed:33268465). E3 ubiquitin-protein ligase activity is activated upon binding to neddylated form of the cullin-5 (CUL5) component of the ECS complex (PubMed:24076655). Together with the ECS(ASB9) complex, catalyzes ubiquitination of CKB (PubMed:33268465). Promotes ubiquitination of DCUN1D1 (PubMed:30587576). Mediates 'Lys-6', 'Lys-48'- and 'Lys-63'-linked polyubiquitination (PubMed:16118314, PubMed:17646546, PubMed:19340006). May play a role in myelopoiesis (PubMed:19340006)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Proteasomal degradation of proteins that are ubiquitinated by Triad1 affects the clonogenic growth of primary myeloid progenitor cells, [RefSeq, PubMed]; The fine-tuning of Gfi1 protein levels regulated by Triad1 defines an unexpected role for this protein in hematopoiesis., [RefSeq, PubMed]; The protein encoded by this gene is an E3 ubiquitin-protein ligase that polyubiquitinates some proteins, tagging them for degradation. The encoded protein upregulates p53 in some cancer cells and may inhibit myelopoiesis. Several transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been determined yet. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q9HBZ6;Q9UEM9", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0031624 ubiquitin conjugating enzyme binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:1903955 positive regulation of protein targeting to mitochondrion;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "O95376-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAQ5-1", "uniprot_id": [ { "id": "ZN420_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAQ5", "type": "external" } ], "mass": 80247.0, "length": 688, "protein_name": "Zinc finger protein 420", "gene_name": "ZNF420", "organism": "Human", "refseq_name": "zinc finger protein 420 isoform f", "refseq_ac": [ { "id": "NP_001316451", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316451", "type": "external" } ], "gene_names_uniprotkb": "ZNF420", "gene_names_refseq": "APAK; ZNF420", "protein_names_uniprotkb": "Zinc finger protein 420", "protein_names_refseq": "ATM and p53-associated KZNF protein; zinc finger protein 420 isoform f", "tax_id": 9606, "disease": "", "pathway": " (hsa:147923); (R-HSA-212436); (R-HSA-6803204)", "pathway_count": 3, "publication_count": 51, "publication_id_list": "10235266;10330177;10807576;11030628;11237011;11395415;11511362;11684014;12402042;12606722;14519192;14729977;15126337;15175151;15273740;15607964;15735003;15896744;16606702;16719718;17349958;17525332;18617898;19377469;19629643;20713054;2163759;22334068;22766503;23365256;23684607;23931759;25080938;25691462;25892735;25961932;26071602;26992070;28832583;29769354;32387766;32938616;33717175;33912179;35051231;36581221;7834749;8183939;8769649;9637681;9653119", "class_list": "", "function": "ARF coordinates Apak to regulate ribosome biogenesis upon cellular stress., [RefSeq, PubMed]; Apak (ZNF420 or FLJ32191) is a negative regulator of p53-mediated apoptosis., [RefSeq, PubMed]; Apak competes with p53 for binding to inhibit p53AIP1 expression., [RefSeq, PubMed]; Apak is differentially regulated in the ARF and ATM-dependent manner in response to oncogenic stress and DNA damage, respectively., [RefSeq, PubMed]; Four of seven types of DNA damage signals examined resulted in significant Apak phosphorylation and dissociation of Apak from p53, releasing the inhibition of p53 transcriptional activity Erratum:[Mol Cell Biochem. 2010 Jan;333(1-2):189. Xiao, Tingtiang [corrected to Xiao, Tingting]], [RefSeq, PubMed]; Functional importance of H3K9me3 in hypoxia, apoptosis and repression of APAK., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; The protein encoded by this gene is a KRAB-type zinc finger protein that negatively-regulates p53-mediated apoptosis. Under stress conditions, the encoded protein is phosphorylated by ATM and dissociates from p53, which activates p53 and initiates apoptosis. [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": 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": "B2RDY6;Q96ML5", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q8TAQ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UNS2-1", "uniprot_id": [ { "id": "CSN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UNS2", "type": "external" } ], "mass": 47873.0, "length": 423, "protein_name": "COP9 signalosome complex subunit 3", "gene_name": "COPS3", "organism": "Human", "refseq_name": "COP9 signalosome complex subunit 3 isoform 2", "refseq_ac": [ { "id": "NP_001186054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186054", "type": "external" } ], "gene_names_uniprotkb": "COPS3; CSN3", "gene_names_refseq": "COPS3; CSN3; SGN3", "protein_names_uniprotkb": "COP9 signalosome complex subunit 3; JAB1-containing signalosome subunit 3; SGN3; Signalosome subunit 3", "protein_names_refseq": "COP9 complex subunit 3; COP9 constitutive photomorphogenic homolog subunit 3; COP9 signalosome complex subunit 3 isoform 2; COP9 signalosome complex subunit 3; JAB1-containing signalosome subunit 3", "tax_id": 9606, "disease": "type II complement component 8 deficiency (Disease Ontology:DOID:0060302); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:8533); (R-HSA-5696394); (R-HSA-6781823); (R-HSA-8856825); (R-HSA-8951664)", "pathway_count": 5, "publication_count": 316, "publication_id_list": "10097102;10191102;10391953;10436022;10535940;10567358;10597293;10613896;10769163;10811609;10878807;10944529;10973499;10983987;11069780;11071885;11076969;11237011;11247302;11259415;11279143;11285227;11292861;11292862;11337588;11418127;11454738;11454741;11585840;11588219;11733065;11904382;11919637;11927540;11961546;11988742;12086608;12101228;12186903;12208738;12220626;12221107;12234931;12429842;12451172;12464600;12504025;12504026;12526791;12538644;12609982;12628923;12660172;12665801;12682069;12717448;12732143;12759363;12815074;12816948;12917637;12944386;12944396;12958364;1317852;14662753;14690597;14726597;14742321;14757770;15134832;15282312;15325100;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;17525332;17713526;17785452;17882165;17981804;18032517;18093314;18166656;18199683;18206966;18491316;18614043;18669648;18775313;18775314;18776931;18805092;18819912;18826954;18850735;18851830;18926707;19109893;19140243;19250909;19321346;19413330;19609301;19617556;19651622;19664995;1968060;19696798;19732400;19748355;19853559;20068231;20231386;20351096;20855601;21070792;21102408;21135142;21388382;21406692;21447816;21463634;21778237;21863050;21940857;21995445;22118460;22118466;22223895;22306028;22357968;22466610;22466611;22466612;22466964;22484487;22537386;2257624;22898188;22902626;22942912;22959436;23045548;23186163;23201271;23301498;23319653;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24127601;24186068;24366543;24384571;24636985;24680432;24714562;24715725;24746795;24793695;24793696;25154395;25314029;25349211;25355947;25435140;25531226;25576301;25645385;25802875;25810538;25880248;26030138;26344709;26403691;26456823;26460955;26632597;26758079;26829388;26906416;26992070;27030794;27222660;27565346;27600516;28115426;28514659;28832583;28834231;28891468;28904123;2890644;29153394;29242379;29508533;29557506;29786170;30315122;30379171;30429286;30524438;30610225;30779550;31154438;31217245;31373491;31844290;31848261;31998317;32005965;32157095;32161166;32284348;32350084;32355176;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33444648;33592498;33691108;33912179;33968037;33981976;34019948;34087483;34171305;3417785;34229054;34509645;34932366;35051231;35138101;35561310;35580925;36010968;36215666;36241641;36284347;36451342;36581221;37938771;38665916;40914422;7569928;7822302;8078911;8168482;8553074;8837779;8876179;9169477;9303539;9326587;9535219;9723620;9790970;9812899;9887101;9891082", "class_list": "", "function": "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/ICSBP, 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. Mediates the interaction between the desmosome and COP9 signalosome complex (CSN) protein complex (PubMed:28891468). As a result of this interaction, promotes keratinocyte differentiation via deneddylation of EGFR resulting in a reduction in EGFR protein stabilization and translocation away from the cell membrane (PubMed:28891468)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The COPS3-FOXO3 positive feedback loop regulates autophagy to promote cisplatin resistance in osteosarcoma., [RefSeq, PubMed]; The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Several transcript variants encoding different isoforms have been found for this gene. [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": 8, "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": "B2R683;B4DY81;O43191;Q7LDR6", "ec_number_list": [], "go_molecular_function": "", "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:0043516 regulation of DNA damage response, signal transduction by p53 class mediator;GO:0007165 signal transduction;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0009416 response to light stimulus;GO:0045116 protein neddylation", "synthesized_glycan_count": 0, "hit_score": 32.0, "record_id": "Q9UNS2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULH1-1", "uniprot_id": [ { "id": "ASAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULH1", "type": "external" } ], "mass": 125498.0, "length": 1129, "protein_name": "Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1", "gene_name": "ASAP1", "organism": "Human", "refseq_name": "arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001234925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001234925", "type": "external" } ], "gene_names_uniprotkb": "ASAP1; DDEF1; KIAA1249; PAG2", "gene_names_refseq": "AMAP1; ASAP1; CENTB4; DDEF1; PAG2; PAP; ZG14P", "protein_names_uniprotkb": "Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1; 130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating protein; ADP-ribosylation factor-directed GTPase-activating protein 1; ARF GTPase-activating protein 1; DEF-1; Development and differentiation-enhancing factor 1; Differentiation-enhancing factor 1; PIP2-dependent ARF1 GAP", "protein_names_refseq": "130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein; 130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating protein; ADP-ribosylation factor-directed GTPase-activating protein 1; ARF GTPase-activating protein 1; DEF-1; PIP2-dependent ARF1 GAP; arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 isoform 2; arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1; centaurin, beta 4; development and differentiation-enhancing factor 1", "tax_id": 9606, "disease": "hypogonadotropic hypogonadism 12 with or without anosmia (Disease Ontology:DOID:0090072); prostatic hypertrophy (Disease Ontology:DOID:11132); breast cancer (Disease Ontology:DOID:1612); periodontitis (Disease Ontology:DOID:824)", "pathway": " (hsa:50807); (R-HSA-5620916)", "pathway_count": 2, "publication_count": 114, "publication_id_list": "11237011;11773070;12149250;12221131;12771146;15158452;15728366;16038802;16136078;16155582;16431365;16537653;16636290;16782012;17007872;17030804;17322306;17574030;17628206;17646400;17956946;18077418;18088087;18220336;18669648;18685082;19017632;19153612;19297529;19413330;19454479;19651622;20058876;20068231;20083215;20230923;20308558;20393563;20509626;21273506;21550243;21565611;21775626;22389062;22420621;22433857;22983554;23186163;23351793;23481700;23567335;23945166;24275569;24296415;25576301;25645385;25673879;25880248;25892735;26154972;26992070;27600516;27846572;27862975;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29769354;29786170;30315122;30833945;31154438;31844290;31848261;32157095;32357974;32387766;32488085;32897882;32938616;32938750;32983136;33141586;33298915;33392160;33592498;33912179;33936100;33968037;34019948;34171305;34185709;34405274;34509645;34725712;35051231;35494241;35580925;36010968;36241641;36284347;36792578;37686290;37762658;37875175;37938771;38665916;39302247;9819391", "class_list": "", "function": "ASAP1 Expression in Invasive Breast Cancer and Its Prognostic Role. Publication Status: Online-Only, [RefSeq, PubMed]; ASAP1 activates the IQGAP1/CDC42 pathway to promote tumor progression and chemotherapy resistance in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; An Uncharacterised lncRNA Coded by the ASAP1 Locus Is Downregulated in Serum of Type 2 Diabetes Mellitus Patients. Publication Status: Online-Only, [RefSeq, PubMed]; DEF-1 alters cell motility through the deactivation of ARF1. In contrast, the inhibition of cell spreading by DEF-1 was not dependent on GAP activity, indicating that spreading and motility are altered by DEF-1 through different pathways., [RefSeq, PubMed]; MiR-212/132 attenuates OVA-induced airway inflammation by inhibiting mast cells activation through MRGPRX2 and ASAP1., [RefSeq, PubMed]; Possesses phosphatidylinositol 4,5-bisphosphate-dependent GTPase-activating protein activity for ARF1 (ADP ribosylation factor 1) and ARF5 and a lesser activity towards ARF6. May coordinate membrane trafficking with cell growth or actin cytoskeleton remodeling by binding to both SRC and PIP2. May function as a signal transduction protein involved in the differentiation of fibroblasts into adipocytes and possibly other cell types. 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, PubMed]; These results suggest that POB1 interacts with PAG2 through its proline-rich motif, thereby regulating cell migration (PAG2)., [RefSeq, PubMed]; This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. 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": 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": 19, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "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": "B2RNV3", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008270 zinc ion binding;GO:0045296 cadherin binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0032588 trans-Golgi network membrane", "go_biological_process": "GO:0060271 cilium assembly;GO:1903527 positive regulation of membrane tubulation;GO:0061512 protein localization to cilium", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "Q9ULH1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12805-1", "uniprot_id": [ { "id": "FBLN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12805", "type": "external" } ], "mass": 54641.0, "length": 493, "protein_name": "EGF-containing fibulin-like extracellular matrix protein 1", "gene_name": "EFEMP1", "organism": "Human", "refseq_name": "EGF-containing fibulin-like extracellular matrix protein 1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001034437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034437", "type": "external" } ], "gene_names_uniprotkb": "EFEMP1; FBLN3; FBNL", "gene_names_refseq": "ARCL1D; DHRD; DRAD; EFEMP1; FBLN3; FBNL; FIBL-3; GLC1H; MLVT; MTLV; S1-5", "protein_names_uniprotkb": "EGF-containing fibulin-like extracellular matrix protein 1; Extracellular protein S1-5; FIBL-3; Fibrillin-like protein; Fibulin-3", "protein_names_refseq": "EGF containing fibulin extracellular matrix protein 1; EGF containing fibulin like extracellular matrix protein 1; EGF-containing fibulin-like extracellular matrix protein 1 isoform 1 precursor; extracellular protein S1-5; fibulin-3; glaucoma 1, open angle, H (adult-onset)", "tax_id": 9606, "disease": "Doyne honeycomb retinal dystrophy (Disease Ontology:DOID:0060745); open-angle glaucoma (Disease Ontology:DOID:1067); high grade glioma (Disease Ontology:DOID:3070); cutis laxa (Disease Ontology:DOID:3144); macular degeneration (Disease Ontology:DOID:4448); adenoma (Disease Ontology:DOID:657); hepatocellular carcinoma (Disease Ontology:DOID:684); osteoarthritis (Disease Ontology:DOID:8398); cutis laxa, autosomal recessive, type 1d (MONDO:MONDO:0958335)", "pathway": " (hsa:2202); (R-HSA-2129379)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "10.1038/emboj.2013.79;10025398;10369267;10424889;10544250;10601734;10646116;10930463;11237011;11262647;11384588;11970960;12242346;12358597;12415008;12429738;1400330;14578376;14701737;15123717;1708799;17324935;17666404;18339631;19275936;19804359;19887559;20005202;21646718;22905912;23584533;25389134;25892735;26162006;27726376;29242379;29557506;29769354;29786170;30459171;31154438;31792352;31844290;31848261;32006683;32157095;33592498;33807164;34411563;34923728;35051231;35490425;35580925;35998264;36010968;36241641;36284347;38467175;38609985;38665916;39062824;7500359;7534784;7799918;8812496;9725916", "class_list": "", "function": "Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth., [UniProtKB, PubMed, PubMed, PubMed]; Clinicopathological Appearance of Epidermal Growth-Factor-Containing Fibulin-like Extracellular Matrix Protein 1 Deposition in the Lower Gastrointestinal Tract: An Autopsy-Based Study. Publication Status: Online-Only, [RefSeq, PubMed]; EFEMP1 has a role in retinal drusen formation and is involved in the etiology of macular degeneration and Malattia Leventinese., [RefSeq, PubMed]; Replication study identified EFEMP1 association with varicose vein predisposition among Indians. Publication Status: Online-Only, [RefSeq, PubMed]; Stop codon variant in EFEMP1 is associated with primary open-angle glaucoma due to impaired regulation of aqueous humor outflow., [RefSeq, PubMed]; The 5' end of the FBLN3 gene has been characterized, and the important upstream motifs regulating its transcription have been identified., [RefSeq, PubMed]; This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[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": 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": 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": 3, "reported_phosphosites": 0, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 9, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A8K3I4;B4DW75;D6W5D2;Q541U7", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005154 epidermal growth factor receptor binding;GO:0008083 growth factor activity;GO:0005201 extracellular matrix structural constituent;GO:0005006 epidermal growth factor receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005739 mitochondrion;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0018108 peptidyl-tyrosine phosphorylation;GO:0006355 regulation of DNA-templated transcription;GO:0007601 visual perception;GO:0007173 epidermal growth factor receptor signaling pathway;GO:0048048 embryonic eye morphogenesis", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q12805-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6T3-1", "uniprot_id": [ { "id": "ARFG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6T3", "type": "external" } ], "mass": 44668.0, "length": 406, "protein_name": "ADP-ribosylation factor GTPase-activating protein 1", "gene_name": "ARFGAP1", "organism": "Human", "refseq_name": "ADP-ribosylation factor GTPase-activating protein 1 isoform c", "refseq_ac": [ { "id": "NP_001268411", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268411", "type": "external" } ], "gene_names_uniprotkb": "ARFGAP1; ARF1GAP", "gene_names_refseq": "ARF1GAP; ARFGAP1; HRIHFB2281", "protein_names_uniprotkb": "ADP-ribosylation factor GTPase-activating protein 1; ADP-ribosylation factor 1 GTPase-activating protein; ARF GAP 1; ARF1 GAP; ARF1-directed GTPase-activating protein", "protein_names_refseq": "ADP ribosylation factor GTPase activating protein 1; ADP-ribosylation factor GTPase-activating protein 1 isoform c; ARF1-directed GTPase-activating protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55738); (R-HSA-381038); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-8856828)", "pathway_count": 5, "publication_count": 317, "publication_id_list": "10052452;10318838;10445031;10535736;10542231;10559856;10559861;10559924;10559959;10601334;10625686;10679020;10761932;10766823;10827079;10903204;10921873;11035033;11082044;11172815;11231140;11237011;11239472;11285137;11306556;11461920;11470803;11493604;11516654;11517213;11532990;11577110;11689559;11703931;11726511;11739780;11748249;11877457;11877461;11889126;12047556;12057195;12070132;12204115;12213833;12388752;12447393;12634853;12847086;12952949;14504276;14555962;14581451;14617351;14622578;14622579;14654841;14742712;15029241;15037235;15252009;15260957;15272311;15302935;15318165;15339664;15466936;15502812;15502813;15616190;15632110;15649145;15703209;15728195;15802264;15813748;15878873;15895077;15916959;16030262;16103228;16215232;1631136;16326391;16410077;16461360;16516836;16539657;16571679;16633337;16707488;16723730;16798879;1680566;16880396;16903783;16912714;16926190;16940185;16964243;17018281;17035995;17113389;17158794;17253781;17274799;17287340;17360540;17429068;17451557;17494869;17512409;17540576;17609109;17681954;17760859;17762867;17765681;17927562;17956946;17978091;18086915;18093523;18182008;18283113;18287528;18388313;1847920;18524849;18664523;18669648;18790740;18809720;18981233;1898986;19015319;19092055;19109418;19151722;19164740;19287005;19296720;19296914;19369418;19458185;19536138;1957170;19575674;19603039;19608861;19631211;19664994;19664995;19690332;19696796;19713939;19758564;19776351;19809571;20005805;20033059;20059951;20068231;20136777;20211604;20231386;20357002;20427317;20428113;20448150;20462495;20534429;20637885;20826345;20946875;2115402;21187331;21219331;21278753;21282569;21316588;21445324;21482805;21499258;21550981;21613550;21689688;21779028;21841790;21844168;21883765;21927000;21927001;21962517;22013193;22094269;22099461;22233676;22304919;22484487;22505844;22815487;22863004;23186163;23297414;23396477;23536704;23823722;23839779;23861397;23891661;24119662;24130457;24186068;24275569;24581490;24714562;24789820;24806965;24966051;25107275;25303366;25341920;25364732;25436559;25492864;25502872;25505266;26042225;26403691;26992070;27600516;27920218;28832583;28904123;29237092;29242379;29393594;29632046;30059200;30315122;30833945;31217245;31492838;31844290;31848261;32119511;32157095;32350084;32357974;32574038;32938616;32938750;32983136;33592498;33715220;33912179;33968037;33988249;34019948;34171305;34357683;35051231;35132862;35138101;35251023;35254053;35289036;35513511;36010968;36284347;37541260;37566088;38665916;39531497;39534244;40596516;40914422;6146630;7590364;7691276;7844144;7877694;8001155;8128252;8132710;8221884;8253837;8505331;8524399;8552632;8620540;8636227;8666242;8991093;9037597;9092476;9100026;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9427626;9428629;9450183;9473480;9490716;9635431;9671725;9736607;9751720;9990005", "class_list": "", "function": "ArfGAP1 acts as a GTPase-activating protein for human ADP-ribosylation factor-like 1 protein., [RefSeq, PubMed]; ArfGAP1 inhibits mTORC1 lysosomal localization and activation., [RefSeq, PubMed]; C9orf72 Toxic Species Affect ArfGAP-1 Function. Publication Status: Online-Only, [RefSeq, PubMed]; GTPase-activating protein (GAP) for the ADP ribosylation factor 1 (ARF1). Involved in membrane trafficking and /or vesicle transport. Promotes hydrolysis of the ARF1-bound GTP and thus, is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles, a prerequisite for vesicle's fusion with target compartment. Probably regulates ARF1-mediated transport via its interaction with the KDELR proteins and TMED2. Overexpression induces the redistribution of the entire Golgi complex to the endoplasmic reticulum, as when ARF1 is deactivated. Its activity is stimulated by phosphoinosides and inhibited by phosphatidylcholine (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing 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": 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": 19, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "B7Z3U0;B7Z8H8;B7ZBI3;E1P5I9;E7EV62;Q6PK71;Q96KC4;Q96T02;Q9NSU3;Q9NVF6;Q9UIL0", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0045202 synapse;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0015031 protein transport;GO:0030100 regulation of endocytosis;GO:0016192 vesicle-mediated transport;GO:0032012 regulation of ARF protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 32.1, "record_id": "Q8N6T3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29466-1", "uniprot_id": [ { "id": "CASP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P29466", "type": "external" } ], "mass": 45159.0, "length": 404, "protein_name": "Caspase-1", "gene_name": "CASP1", "organism": "Human", "refseq_name": "caspase-1 isoform beta precursor", "refseq_ac": [ { "id": "NP_001214", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001214", "type": "external" } ], "gene_names_uniprotkb": "CASP1; IL1BCE; IL1BC", "gene_names_refseq": "CASP1; ICE; IL1BC; P45", "protein_names_uniprotkb": "Caspase-1; 3.4.22.36; CASP-1; ICE; IL-1 beta-converting enzyme; IL-1BC; Interleukin-1 beta convertase; Interleukin-1 beta-converting enzyme; p45", "protein_names_refseq": "IL-1 beta-converting enzyme; IL1B-convertase; caspase 1, apoptosis-related cysteine peptidase; caspase-1 isoform beta precursor; interleukin 1, beta, convertase; interleukin 1-B converting enzyme", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); prostatic hypertrophy (Disease Ontology:DOID:11132); asthma (Disease Ontology:DOID:2841); acute kidney failure (Disease Ontology:DOID:3021); rhinitis (Disease Ontology:DOID:4483); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); in situ carcinoma (Disease Ontology:DOID:8719)", "pathway": " (hsa:834); (R-HSA-168638); (R-HSA-448706); (R-HSA-5620971); (R-HSA-6803207); (R-HSA-844456); (R-HSA-844615); (R-HSA-844623); (R-HSA-9008059); (R-HSA-9660826); (R-HSA-9692916); (R-HSA-9968551)", "pathway_count": 12, "publication_count": 194, "publication_id_list": "10224040;10329646;10393175;10702308;10973264;11051551;11087742;11145836;11157473;11237011;11278253;11313357;11390368;11460167;11498534;11559530;11717445;11786556;11839743;11967258;12089322;12096920;12191486;12198154;12381835;12514169;12527755;12615073;12791997;12796777;12809600;12917691;1321594;1339309;1373520;14514672;14595024;14633987;14688482;14761955;15030775;15073321;15208624;15296730;15326478;15327770;15383541;15498465;15527767;15561713;15580302;15620648;1574116;16135520;16183742;16785446;16897187;17035307;17036048;17047224;17270291;17284521;17303577;17349957;17412287;17435760;17496917;17562858;17596301;17603038;17641058;17703304;17761676;18079694;18390730;19380580;19398035;19535145;19570822;19859801;20023662;20148899;20197547;20300203;20303873;20935647;2182768;22046132;22253733;22312431;22464733;22854598;23483519;23703390;23817414;23878142;24481253;24509444;24622840;24854014;25135833;25528640;25576301;25729923;25764917;25892735;25907116;26116704;26154972;26320399;26375003;26378163;26508369;26549800;26992070;27060871;27164085;27203180;27281216;27383986;27418190;27600516;27862975;28045099;28092676;28148787;28314590;28392147;28459430;28514659;28832583;28834231;28904123;29177860;29242379;29294448;29493099;29539421;29557506;29712950;29786170;29789417;29891674;29898893;29990470;30065070;30143555;30185776;30192525;30692621;30976076;31034780;31113851;31154438;31217245;31231549;31844290;31848261;32051255;32109412;32157095;32188940;32367036;32387766;32488085;32553275;32728199;32820063;32938616;32983136;33060197;33420033;35051231;35580925;37797010;37993714;38640260;39068588;39432156;39468189;40914422;450099;7876192;8044845;8242741;8999548;9023774;9121587;9190289;9334240;9430721;9744859;9987822;9989503", "class_list": "", "function": "Apoptosis inactive., [UniProtKB, PubMed]; High expression of CASP1 induces atherosclerosis., [RefSeq, PubMed]; Immunohistochemical Expression of Caspase1 and Epidermal Growth Factor Receptor in Invasive Breast Carcinoma and Their Biological and Prognostic Associations. Publication Status: Online-Only, [RefSeq, PubMed]; PRDM1 promotes nucleus pulposus cell pyroptosis leading to intervertebral disc degeneration via activating CASP1 transcription. Publication Status: Online-Only, [RefSeq, PubMed]; TNF-a induces mitochondrial dysfunction to drive NLRP3/Caspase-1/GSDMD-mediated pyroptosis in MCF-7 cells. Publication Status: Online-Only, [RefSeq, PubMed]; Thiol protease involved in a variety of inflammatory processes by proteolytically cleaving other proteins, such as the precursors of the inflammatory cytokines interleukin-1 beta (IL1B) and interleukin 18 (IL18) as well as the pyroptosis inducer Gasdermin-D (GSDMD), into active mature peptides (PubMed:15326478, PubMed:15498465, PubMed:1574116, PubMed:26375003, PubMed:32051255, PubMed:37993714, PubMed:7876192, PubMed:9334240). Plays a key role in cell immunity as an inflammatory response initiator: once activated through formation of an inflammasome complex, it initiates a pro-inflammatory response through the cleavage of the two inflammatory cytokines IL1B and IL18, releasing the mature cytokines which are involved in a variety of inflammatory processes (PubMed:15326478, PubMed:15498465, PubMed:1574116, PubMed:32051255, PubMed:7876192). Cleaves a tetrapeptide after an Asp residue at position P1 (PubMed:15498465, PubMed:1574116, PubMed:7876192). Also initiates pyroptosis, a programmed lytic cell death pathway, through cleavage of GSDMD (PubMed:26375003). In contrast to cleavage of interleukin IL1B, recognition and cleavage of GSDMD is not strictly dependent on the consensus cleavage site but depends on an exosite interface on CASP1 that recognizes and binds the Gasdermin-D, C-terminal (GSDMD-CT) part (PubMed:32051255, PubMed:32109412, PubMed:32553275). Cleaves and activates CASP7 in response to bacterial infection, promoting plasma membrane repair (PubMed:22464733). Upon inflammasome activation, during DNA virus infection but not RNA virus challenge, controls antiviral immunity through the cleavage of CGAS, rendering it inactive (PubMed:28314590). In apoptotic cells, cleaves SPHK2 which is released from cells and remains enzymatically active extracellularly (PubMed:20197547)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein which is 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 which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [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": 8, "reported_glycation": 0, "reported_snv": 5, "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": "B5MDZ1;Q53EY6;Q6DMQ1;Q6GSS3;Q6PI75;Q9UCN3", "ec_number_list": [ { "id": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "type": "external" }, { "id": "3.4.22.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.36", "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": "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": "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": "3.4.22.61", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.61", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0042802 identical protein binding;GO:0019900 kinase binding;GO:0004197 cysteine-type endopeptidase activity;GO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule;GO:0005886 plasma membrane", "go_biological_process": "GO:0032741 positive regulation of interleukin-18 production;GO:0046456 icosanoid biosynthetic process;GO:0002221 pattern recognition receptor signaling pathway;GO:0007231 osmosensory signaling pathway;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 19.7, "record_id": "P29466-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UNP9-1", "uniprot_id": [ { "id": "PPIE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UNP9", "type": "external" } ], "mass": 33431.0, "length": 301, "protein_name": "Peptidyl-prolyl cis-trans isomerase E", "gene_name": "PPIE", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase E isoform 4", "refseq_ac": [ { "id": "NP_001181936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181936", "type": "external" } ], "gene_names_uniprotkb": "PPIE; CYP33", "gene_names_refseq": "CYP-33; CYP33; CypE; PPIE", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase E; 5.2.1.8; Cyclophilin E; Cyclophilin-33; PPIase E; Rotamase E", "protein_names_refseq": "PPIase E; cyclophilin-33; peptidyl-prolyl cis-trans isomerase E isoform 4; peptidyl-prolyl cis-trans isomerase E; peptidylprolyl isomerase E (cyclophilin E); rotamase E", "tax_id": 9606, "disease": "", "pathway": " (hsa:10450); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6798695); (R-HSA-72163); (R-HSA-9918481)", "pathway_count": 8, "publication_count": 198, "publication_id_list": "10.1101/2023.09.13.557529;10882114;10944529;11014198;11101529;11233976;11237011;11747608;11904382;11991638;12176931;12208738;12411573;12414731;12477934;12660172;12732143;14517266;14519844;14625303;14713954;14762106;15084397;15590680;15963461;16246722;16314458;16751180;16809785;17000769;17095540;17290000;17332742;17466625;17466626;17606899;17948053;17981804;18077418;18079701;18258190;18322460;18593880;18614043;19103666;19165350;19279666;19536130;19940136;20227374;20423332;20460131;20541251;20541997;20677832;20980672;21070792;21282463;21536652;2176635;21911577;22081108;22110043;22118460;22365833;22466610;22466611;22466612;22902626;22959432;22961380;23186163;23222130;23236153;23345524;23481700;23650620;23783831;23906714;23973375;24127601;24196718;24275569;24304693;24402227;24448447;24737827;24914973;25154395;25418920;25435140;25555158;25576301;2558966;25599396;25880248;26092250;26385511;26420826;26969736;26992070;27108190;27377154;27459055;27683217;27846572;27920218;28062851;28076346;28228285;28502770;28510447;28781166;28832583;28834231;28904123;29093164;29242379;29301961;29351928;29360106;29361316;29508533;29557506;29632711;2963332;29786170;29902443;30192525;30315122;30315277;30484775;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31217245;31409651;31530632;31844290;31848261;32157095;32161166;32179686;32329775;32355176;32357974;32488085;32494006;32502341;32938616;32983136;33123756;33177556;33243851;33446560;33465208;33592498;33912179;33936100;33968037;34301950;34822310;35051231;35154160;35215846;35385551;35580925;36241641;36580660;37075125;3757028;37938771;38665916;40596516;7700386;8078911;8566756;8608946;8692836;8876179;8977107;9016565;9242493;9326587;9512519;9524131;9539711;9671485;9699634;9701291;9716411;9731529;9747881;9875289", "class_list": "", "function": "Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28076346). Combines RNA-binding and PPIase activities (PubMed:18258190, PubMed:20460131, PubMed:20677832, PubMed:8977107). Binds mRNA and has a preference for single-stranded RNA molecules with poly-A and poly-U stretches, suggesting it binds to the poly(A)-region in the 3'-UTR of mRNA molecules (PubMed:18258190, PubMed:20460131, PubMed:8977107). Catalyzes the cis-trans isomerization of proline imidic peptide bonds in proteins (PubMed:18258190, PubMed:20541251, PubMed:20677832, PubMed:8977107). Inhibits KMT2A activity; this requires proline isomerase activity (PubMed:20460131, PubMed:20541251, PubMed:20677832)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides., [UniProtKB, UniProtKB, UniProtKB]; RNA binding induces an allosteric switch in Cyp33 to repress MLL1-mediated transcription., [RefSeq, PubMed]; The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein contains a highly conserved cyclophilin (CYP) domain as well as an RNA-binding domain. It was shown to possess PPIase and protein folding activities, and it also exhibits RNA-binding activity. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 1, has been identified. [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": 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": 4, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 11, "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": "B2R971;O43634;O43635;Q32Q72;Q3S611;Q5TGA0;Q5TGA2;Q5TGA3;Q9UIZ5", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.4.19.12", "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": "2.3.2.27", "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": "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", "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": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "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": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "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": "3.1.13.-", "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": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "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": "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": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "2.7.1.1", "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": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "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": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "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": "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": "2.3.2.5", "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": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "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": "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" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0016018 cyclosporin A binding;GO:0008143 poly(A) binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription;GO:0006457 protein folding;GO:0000398 mRNA splicing, via spliceosome;GO:0045070 positive regulation of viral genome replication", "synthesized_glycan_count": 0, "hit_score": 20.5, "record_id": "Q9UNP9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z6K5-1", "uniprot_id": [ { "id": "ARPIN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z6K5", "type": "external" } ], "mass": 24943.0, "length": 226, "protein_name": "Arpin", "gene_name": "ARPIN", "organism": "Human", "refseq_name": "arpin isoform 2", "refseq_ac": [ { "id": "NP_001269309", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269309", "type": "external" } ], "gene_names_uniprotkb": "ARPIN; C15orf38", "gene_names_refseq": "ARPIN; C15orf38", "protein_names_uniprotkb": "Arpin; Arp2/3 inhibition protein", "protein_names_refseq": "UPF0552 protein C15orf38; arp2/3 inhibition protein; arpin isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:348110)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;24132237;25576301;25892881;26648569;26774128;26992070;27600516;28293092;28531800;28832583;28834231;29242379;29393594;29557506;31154438;31721415;31848261;32157095;33923443;33968037;34171305;35051231;35580925;36921992", "class_list": "", "function": "ARPIN is down-regulated in breast cancer cells and predicts poor prognosis in breast cancer patients. Data suggest that restoration of ARPIN in breast cancer cells suppresses cell proliferation, colony formation, cell cycle distribution, invasion in vitro, and tumorigenesis in vivo (xenograft experiments in nude mice); Arpin acts as tumor suppressor in breast cancer and is associated with inhibition of Akt signaling., [RefSeq, PubMed]; Arpin Regulates Migration Persistence by Interacting with Both Tankyrases and the Arp2/3 Complex. Publication Status: Online-Only, [RefSeq, PubMed]; Arpin downregulation may contribute to the initiation and development of breast cancer metastasis., [RefSeq, PubMed]; Arpin is critical for phagocytosis in macrophages and is targeted by human rhinovirus., [RefSeq, PubMed]; Arpin protein affects the expression of tight junction proteins and may have an impact on bacterial translocation in severe acute pancreatitis., [RefSeq, PubMed]; Data reveal that Arpin is comprised of an elongated globular core from which the C-terminal tail extends as a linear peptide, thus forming a primary epitope that is readily available to tether Arpin to interacting proteins., [RefSeq, PubMed]; Low Arpin levels are associated with clinicopathological variables and a poor prognosis in gastric cancer patients, [RefSeq, PubMed]; RNA Editing Enzyme ADAR1 Suppresses the Mobility of Cancer Cells via ARPIN., [RefSeq, PubMed]; Regulates actin polymerization by inhibiting the actin-nucleating activity of the Arp2/3 complex; the function is competitive with nucleation promoting factors. Participates in an incoherent feedforward loop at the lamellipodium tip where it inhibits the ARP2/2 complex in response to Rac signaling and where Rac also stimulates actin polymerization through the WAVE complex. Involved in steering cell migration by controlling its directional persistence., [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": 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": "E2QRD5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0030027 lamellipodium", "go_biological_process": "GO:0030336 negative regulation of cell migration;GO:0033058 directional locomotion;GO:0051126 negative regulation of actin nucleation;GO:2000393 negative regulation of lamellipodium morphogenesis", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q7Z6K5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z6Z7-1", "uniprot_id": [ { "id": "HUWE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z6Z7", "type": "external" } ], "mass": 481891.0, "length": 4374, "protein_name": "E3 ubiquitin-protein ligase HUWE1", "gene_name": "HUWE1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase HUWE1 isoform 1", "refseq_ac": [ { "id": "NP_113584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113584", "type": "external" } ], "gene_names_uniprotkb": "HUWE1; HSPC272; KIAA0312; KIAA1578; UREB1", "gene_names_refseq": "ARF-BP1; HECTH9; HSPC272; HUWE1; Ib772; LASU1; MRXST; MULE; URE-B1; UREB1", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase HUWE1; 2.3.2.26; ARF-BP1; ARF-binding protein 1; HECT, UBA and WWE domain-containing protein 1; HECT-type E3 ubiquitin transferase HUWE1; HectH9; Homologous to E6AP carboxyl terminus homologous protein 9; LASU1; Large structure of UREB1; Mcl-1 ubiquitin ligase E3; Mule; URE-B1; URE-binding protein 1; Upstream regulatory element-binding protein 1", "protein_names_refseq": "ARF-binding protein 1; BJ-HCC-24 tumor antigen; E3 ubiquitin-protein ligase HUWE1 isoform 1; HECT domain protein LASU1; HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase; HECT-type E3 ubiquitin transferase HUWE1; Mcl-1 ubiquitin ligase E3; URE-binding protein 1; homologous to E6AP carboxyl terminus homologous protein 9; large structure of UREB1; upstream regulatory element-binding protein 1", "tax_id": 9606, "disease": "syndromic X-linked intellectual disability (Disease Ontology:DOID:0060309); syndromic X-linked intellectual disability Turner type (Disease Ontology:DOID:0060811); non-syndromic X-linked intellectual disability 50 (Disease Ontology:DOID:0112029)", "pathway": " (hsa:10075); (R-HSA-6798695); (R-HSA-983168)", "pathway_count": 3, "publication_count": 194, "publication_id_list": "10.1101/2023.09.13.557529;11062501;11237011;11350924;12646216;14734113;15224091;15224092;15302935;15345747;15567145;15571818;15767685;15989956;15989957;16595681;16849449;16954532;16964243;17081983;17322306;17525332;17567951;18077418;18088087;18212344;18220336;18252223;18452278;18488021;18491316;18510355;18662542;18669648;18691976;18707149;18767875;19007248;19028597;19037095;19352404;19413330;19415658;19452197;19489725;19615748;19651622;19664994;19664995;19690332;19713937;19851334;19874575;19940261;20058876;20068231;20112406;20166139;20534529;21406692;2261476;23092983;23186163;23301498;23481700;23650620;24275569;24366607;24714562;24715725;25418920;25576301;25645385;25880248;25892735;25985138;26154972;26214738;26375851;26811146;26992070;27130160;27397612;27655845;27746020;27846572;27862975;27884935;27920218;28218747;28228285;28467828;28514659;28649982;28657654;28832583;28834231;28904123;29180823;29237092;29242379;29331515;29351928;29437277;29493099;29508533;29557506;29632711;29769354;29786170;30059200;30217973;30315122;30379171;30410026;30429286;30484775;30524438;30620550;30779550;30833945;31020640;31092671;31154438;31217245;31222486;31373491;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34229054;34357683;34405274;34509645;34561969;34725712;34931806;34932366;35051231;35132862;35138101;35251023;35254053;35318648;35561310;35580925;35705054;35776542;36010968;36215666;36241641;36284347;36631436;37541260;37873881;37938771;38184713;38665916;39302247;40307207;40914422;8692836;9380723;9668046", "class_list": "", "function": "E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:15567145, PubMed:15767685, PubMed:15989957, PubMed:17567951, PubMed:18488021, PubMed:19037095, PubMed:19713937, PubMed:20534529, PubMed:30217973). Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1 (PubMed:15989957). Mediates monoubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in base-excision repair (PubMed:19713937). Also ubiquitinates the p53/TP53 tumor suppressor and core histones including H1, H2A, H2B, H3 and H4 (PubMed:15567145, PubMed:15767685, PubMed:15989956). Ubiquitinates MFN2 to negatively regulate mitochondrial fusion in response to decreased stearoylation of TFRC (PubMed:26214738). Ubiquitination of MFN2 also takes place following induction of mitophagy; AMBRA1 acts as a cofactor for HUWE1-mediated ubiquitination (PubMed:30217973). Regulates neural differentiation and proliferation by catalyzing the polyubiquitination and degradation of MYCN (PubMed:18488021). May regulate abundance of CDC6 after DNA damage by polyubiquitinating and targeting CDC6 to degradation (PubMed:17567951). Mediates polyubiquitination of isoform 2 of PA2G4 (PubMed:19037095). Acts in concert with MYCBP2 to regulate the circadian clock gene expression by promoting the lithium-induced ubiquitination and degradation of NR1D1 (PubMed:20534529). Binds to an upstream initiator-like sequence in the preprodynorphin gene (By similarity). Mediates HAPSTR1 degradation, but is also a required cofactor in the pathway by which HAPSTR1 governs stress signaling (PubMed:35776542). Acts as a regulator of the JNK and NF-kappa-B signaling pathways by mediating assembly of heterotypic 'Lys-63'-/'Lys-48'-linked branched ubiquitin chains that are then recognized by TAB2: HUWE1 mediates branching of 'Lys-48'-linked chains of substrates initially modified with 'Lys-63'-linked conjugates by TRAF6 (PubMed:27746020). 'Lys-63'-/'Lys-48'-linked branched ubiquitin chains protect 'Lys-63'-linkages from CYLD deubiquitination (PubMed:27746020). Ubiquitinates PPARA in hepatocytes (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Mule is both required and sufficient for the polyubiquitination of Mcl-1; Mule is a unique BH3-containing E3 ubiquitin ligase apical to Bcl-2 family proteins during DNA damage-induced apoptosis GeneRIF: Mule (HUWE1) poly-ubiquitinates anti-apoptotic gene Mcl-1., [RefSeq, PubMed]; Study modifies the current view of ARF-mediated p53 activation and reveals that ARF-BP1 is a critical mediator of both the p53-independent and p53-dependent tumor suppressor functions of ARF GeneRIF: Ubiquitin ligase activity of ARF-BP1 (HUWE1) is inhibited by Arf., [RefSeq, PubMed]; The E3 ligase HUWE1 increases the sensitivity of CRC to oxaliplatin through TOMM20 degradation., [RefSeq, PubMed]; The role of KDM4A-mediated histone methylation on temozolomide resistance in glioma cells through the HUWE1/ROCK2 axis., [RefSeq, PubMed]; This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic cognitive disability. [provided by RefSeq, Aug 2013]., [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": 18, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 18, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 18, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 74, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 102, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 25, "binding_glycan_count": 0, "secondary_ac_list": "O15029;Q4G2Z2;Q5H961;Q6P4D0;Q8NG67;Q9BUI0;Q9HCJ4;Q9NSL6;Q9P0A9", "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": "2.3.2.24", "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": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "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": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "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", "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": "3.4.22.27", "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": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "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": "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": "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": "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": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "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:0003677 DNA binding;GO:0003723 RNA binding;GO:0061630 ubiquitin protein ligase activity;GO:0034450 ubiquitin-ubiquitin ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0030154 cell differentiation;GO:1903955 positive regulation of protein targeting to mitochondrion;GO:0006284 base-excision repair;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 21.6, "record_id": "Q7Z6Z7-1", "record_type": "protein", "filter_code": "0000000.1100111.001000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43189-1", "uniprot_id": [ { "id": "PHF1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43189", "type": "external" } ], "mass": 62106.0, "length": 567, "protein_name": "PHD finger protein 1", "gene_name": "PHF1", "organism": "Human", "refseq_name": "PHD finger protein 1 isoform a", "refseq_ac": [ { "id": "NP_002627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002627", "type": "external" } ], "gene_names_uniprotkb": "PHF1; PCL1", "gene_names_refseq": "MTF2L2; PCL1; PHF1; TDRD19C; hPHF1", "protein_names_uniprotkb": "PHD finger protein 1; Polycomb-like protein 1; Protein PHF1; hPCl1; hPHF1", "protein_names_refseq": "PHD finger protein 1 isoform a; polycomb-like 1; polycomb-like protein 1; testicular tissue protein Li 140; tudor domain containing 19C", "tax_id": 9606, "disease": "", "pathway": " (hsa:5252); (R-HSA-212300)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "11237011;12351676;12435631;15099518;16357870;16397222;16431907;18086877;18285464;18385154;18974356;19007248;19026781;19571010;20075857;20123894;20873783;20937877;20974918;21170310;22323599;22466170;22761769;23142980;23150668;23186163;23228662;23273982;23326524;23431328;23679895;24074865;25880248;28228285;29351928;29557506;29632711;30315122;30429286;30833945;30923826;31086175;31844290;31848261;32357974;32387766;32938616;32938750;33968037;34560087;36010968;36215666;37819540;40596516;9545646", "class_list": "", "function": "A PHF1-TFE3 fusion atypical ossifying fibromyxoid tumor with prominent collagenous rosettes: Case report with a brief review., [RefSeq, PubMed]; PHF1 modulates the activity of Ezh2 in favor of the repressive H3K27me3 mark, [RefSeq, PubMed]; Polycomb group (PcG) that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex. Involved in DNA damage response and is recruited at double-strand breaks (DSBs). Acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting the PRC2 complex: it is however unclear whether recruitment of the PRC2 complex to H3K36me3 leads to enhance or inhibit H3K27me3 methylation mediated by the PRC2 complex. According to some reports, PRC2 recruitment by PHF1 promotes H3K27me3 and subsequent gene silencing by inducing spreading of PRC2 and H3K27me3 into H3K36me3 loci (PubMed:18285464, PubMed:23273982). According to another report, PHF1 recruits the PRC2 complex at double-strand breaks (DSBs) and inhibits the activity of PRC2 (PubMed:23142980). Regulates p53/TP53 stability and prolonges its turnover: may act by specifically binding to a methylated from of p53/TP53., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The role of PHF1 in H3K27 methylation and Hox gene silencing is reported., [RefSeq, PubMed]; This gene encodes a Polycomb group protein. The protein is a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex, and functions in transcriptional repression of homeotic genes. The protein is also recruited to double-strand breaks, and reduced protein levels results in X-ray sensitivity and increased homologous recombination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]., [RefSeq]; When molecular outsmarts morphology: Malignant ossifying fibromyxoid tumors masquerading as osteosarcomas, including a novel CREBZF::PHF1 fusion., [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": 5, "reported_glycation": 0, "reported_snv": 5, "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": "B1AZX2;B1AZX3;O60929;Q5SU07;Q5SU08;Q96KM7", "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:1990226 histone methyltransferase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0035861 site of double-strand break;GO:0035098 ESC/E(Z) complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045814 negative regulation of gene expression, epigenetic;GO:0031507 heterochromatin formation;GO:0140861 DNA repair-dependent chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "O43189-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13510-1", "uniprot_id": [ { "id": "ASAH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13510", "type": "external" } ], "mass": 44660.0, "length": 395, "protein_name": "Acid ceramidase", "gene_name": "ASAH1", "organism": "Human", "refseq_name": "acid ceramidase isoform c", "refseq_ac": [ { "id": "NP_001120977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120977", "type": "external" } ], "gene_names_uniprotkb": "ASAH1; ASAH; HSD-33; HSD33", "gene_names_refseq": "ACDase; AC; ASAH1; ASAH; PHP32; PHP; SMAPME", "protein_names_uniprotkb": "Acid ceramidase; 3.5.1.-; 3.5.1.109; 3.5.1.23; ACDase; AC; Acid CDase; Acylsphingosine deacylase; Glycosylceramide deacylase; N-acylethanolamine hydrolase ASAH1; N-acylsphingosine amidohydrolase; PHP32; Putative 32 kDa heart protein", "protein_names_refseq": "N-acylethanolamine hydrolase ASAH1; N-acylsphingosine amidohydrolase (acid ceramidase) 1; acid CDase; acid ceramidase isoform c; acylsphingosine deacylase; glycosylceramide deacylase; putative 32 kDa heart protein", "tax_id": 9606, "disease": "Farber lipogranulomatosis (Disease Ontology:DOID:0050464); spinal muscular atrophy with progressive myoclonic epilepsy (Disease Ontology:DOID:0111527); sphingolipidosis (Disease Ontology:DOID:1927)", "pathway": " (hsa:427); (R-HSA-6798695); (R-HSA-9840310); (R-HSA-9857377)", "pathway_count": 4, "publication_count": 193, "publication_id_list": "10.1007/s00018-021-03863-1;10.1101/2023.09.13.557529;10191093;10196694;10406958;10610716;10781797;10823942;10861246;10942779;10993717;11237011;11241842;11350180;11451951;11489889;11707436;11784319;12374214;12510003;12518053;12566438;12594539;12638942;12662933;12754519;12764132;12815059;12885774;12888274;12909021;1352293;1352993;15003450;15213228;15458386;15655246;15714521;15773042;15845354;16229686;16230343;16263699;16335952;1634229;16478472;16517606;16595074;16698036;1670590;1678251;16951918;17105727;1718266;1720305;1740330;1756715;17713573;1840600;18524657;1889421;1907800;1915858;19159218;19405096;19836391;2001789;20609603;20728381;21893389;21982811;22261821;22703880;22927646;23401004;23481700;235289;23650620;239890;24164096;24190977;24715725;25502872;2562955;25645385;26154972;26791533;26898341;26945816;27026573;2717620;27411168;27600516;27846572;27920218;28126847;28228285;28467828;28657654;28832583;28834231;28904123;28905881;29242379;29314611;29317506;29393594;29443946;29508533;29557506;2960521;29632711;2965147;29692406;2970528;2971395;29741879;29747811;2976757;29786170;29802621;3014515;30254208;30315122;3048308;30525581;30573663;30779550;3136930;31495489;3158659;31844290;32157095;32350084;32387766;32488085;32706452;32938616;32983136;33298915;33334013;33592498;33691108;33766731;33798445;33912179;33936100;33968037;33981976;34019948;34089345;34102611;34171305;34357683;34433824;3456607;35051231;35154160;35251023;35580925;36284347;36752535;36830643;37074911;37340703;38665916;39940;40596516;5135907;5164093;527942;5822067;7504405;7628016;7730378;7744740;7852280;7852294;8281145;8370580;8399327;8573994;8591035;8663398;8692836;8804427;8889578;8955159;8985184;9217013;9338580;9520418;9521684", "class_list": "glycogene", "function": "Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Acid ceramidase promotes senescent cell survival., [RefSeq, PubMed]; Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH (PubMed:10610716, PubMed:11451951, PubMed:15655246, PubMed:26898341, PubMed:36752535, PubMed:7744740, PubMed:7852294). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:10610716). Has a higher catalytic efficiency towards C12-ceramides versus other ceramides (PubMed:15655246, PubMed:7744740). Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine (PubMed:12764132, PubMed:12815059). For the reverse synthetic reaction, the natural sphingosine D-erythro isomer is more efficiently utilized as a substrate compared to D-erythro-dihydrosphingosine and D-erythro-phytosphingosine, while the fatty acids with chain lengths of 12 or 14 carbons are the most efficiently used (PubMed:12764132). Also has an N-acylethanolamine hydrolase activity (PubMed:15655246). By regulating the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes (PubMed:17713573). Also indirectly regulates tumor necrosis factor/TNF-induced apoptosis (By similarity). By regulating the intracellular balance between ceramides and sphingosine, in adrenocortical cells, probably also acts as a regulator of steroidogenesis (PubMed:22261821)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; May directly regulate steroidogenesis by binding the nuclear receptor NR5A1 and negatively regulating its transcriptional activity., [UniProtKB, PubMed]; N-acylsphingosine amidohydrolase 1 promotes melanoma growth and metastasis by suppressing peroxisome biogenesis-induced ROS production., [RefSeq, PubMed]; Targeting Acid Ceramidase to Improve the Radiosensitivity of Rectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [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": 7, "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": 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": 17, "reported_glycation": 0, "reported_snv": 761, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 121, "disease_count": 3, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "E9PDS0;Q6W898;Q96AS2", "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": "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": "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": "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": "1.1.1.205", "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": "2.7.10.2", "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": "2.7.1.40", "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": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.60", "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": "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:0017064 fatty acid amide hydrolase activity;GO:0003714 transcription corepressor activity;GO:0017040 N-acylsphingosine amidohydrolase activity;GO:0016922 nuclear receptor binding;GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0046513 ceramide biosynthetic process;GO:0046512 sphingosine biosynthetic process;GO:0046514 ceramide catabolic process;GO:0030216 keratinocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 32.3, "record_id": "Q13510-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0R1-1", "uniprot_id": [ { "id": "AP5M1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0R1", "type": "external" } ], "mass": 54767.0, "length": 490, "protein_name": "AP-5 complex subunit mu-1", "gene_name": "AP5M1", "organism": "Human", "refseq_name": "AP-5 complex subunit mu-1", "refseq_ac": [ { "id": "NP_060699", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060699", "type": "external" } ], "gene_names_uniprotkb": "AP5M1; C14orf108; MUDENG", "gene_names_refseq": "AP5M1; C14orf108; MUDENG; Mu5; MuD", "protein_names_uniprotkb": "AP-5 complex subunit mu-1; Adaptor-related protein complex 5 subunit mu-1; Mu-2-related death-inducing protein; Mu5; MuD; Putative HIV-1 infection-related protein", "protein_names_refseq": "AP-5 complex subunit mu-1; AP-5 complex subunit mu; MHD domain-containing death-inducing protein; MU-2/AP1M2 domain containing, death-inducing; Mu-2 related death-inducing; adapter-related protein complex 5 mu subunit; adapter-related protein complex 5 subunit mu-1; adaptor related protein complex 5 mu 1 subunit; mu-2-related death-inducing protein; putative HIV-1 infection-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55745)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "11230166;11237011;18395520;22022230;23665015;24715725;25418920;25576301;25645385;26154972;26992070;27846572;27920218;28063628;28228285;28649982;28832583;28904123;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30484775;30524438;31217245;31427081;31844290;32157095;32357974;32387766;32502341;32759789;32938616;33141586;33298915;33717175;33912179;33936100;33968037;34171305;34211107;34509645;35051231;35318648;36010968;36241641", "class_list": "", "function": "As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:18395520, it may play a role in cell death., [UniProtKB, PubMed, PubMed]; The AP5M1 upregulated the level of BAX protein, a key pro-apoptotic B cell lymphoma (BCL)-2 family member regulating mitochondrial apoptotic cell death pathway., [RefSeq, PubMed]; The MUDENG Augmentation: A Genesis in Anti-Cancer Therapy? Review article Publication Status: Online-Only, [RefSeq, PubMed]; The gene encoding the protein MUDENG (Mu-2 related death-inducing gene) was cloned and characterized., [RefSeq, PubMed]; These results suggest that the adaptin domain plays a key role in MUDENG-mediated cell death., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "O95354;Q6ZMD7;Q96DX3;Q9NVC5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane", "go_biological_process": "GO:0015031 protein transport;GO:0007040 lysosome organization;GO:0016197 endosomal transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9H0R1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02654-1", "uniprot_id": [ { "id": "APOC1_HUMAN", "url": "https://www.uniprot.org/uniprot/P02654", "type": "external" } ], "mass": 9332.0, "length": 83, "protein_name": "Apolipoprotein C-I", "gene_name": "APOC1", "organism": "Human", "refseq_name": "apolipoprotein C-I isoform a precursor", "refseq_ac": [ { "id": "NP_001307994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307994", "type": "external" } ], "gene_names_uniprotkb": "APOC1", "gene_names_refseq": "APOC1B; APOC1; Apo-CI; ApoC-I; apo-CIB; apoC-IB", "protein_names_uniprotkb": "Apolipoprotein C-I; Apo-CI; ApoC-I; Apolipoprotein C1", "protein_names_refseq": "apolipoprotein C-I isoform a precursor; apolipoprotein C-I", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); gastric adenocarcinoma (Disease Ontology:DOID:3717); hepatocellular carcinoma (Disease Ontology:DOID:684); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:341); (R-HSA-8866423); (R-HSA-8964046); (R-HSA-9029569)", "pathway_count": 4, "publication_count": 97, "publication_id_list": "10191299;10224102;10391210;10520737;10545169;10852956;10858438;11149950;11237011;11353333;11369260;11500512;11604492;11825674;11875109;12032151;12150943;12454263;12612088;12658354;12700342;12700345;12805445;14703507;14732096;14764426;15147902;15265030;15591219;166984;16981907;17186944;17339654;18644789;18782758;19481530;20466882;20466885;20494359;20566875;20855588;21187453;21310851;21507939;21776394;22461740;22517366;22541735;22673513;23496987;23519696;23790976;25160599;26129832;26984517;26992070;27893789;28082258;28228285;2835369;28757862;28842423;28869506;2897845;29242379;29557506;29632711;29772548;29786170;2985493;30429286;31154438;31555694;31844290;31848261;32157095;32350084;32373127;32387766;32983136;34171305;34357683;35051231;35251023;35580925;36284347;37328602;37981873;38515073;4369340;6328444;7779782;7803401;8294473;8626595;9300485;9633939", "class_list": "", "function": "APOC1 is a prognostic biomarker associated with M2 macrophages in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; APOC1 might be an additional susceptibility gene for late onset Alzheimer disease. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Inhibitor of lipoprotein binding to the low density lipoprotein (LDL) receptor, LDL receptor-related protein, and very low density lipoprotein (VLDL) receptor. Associates with high density lipoproteins (HDL) and the triacylglycerol-rich lipoproteins in the plasma and makes up about 10% of the protein of the VLDL and 2% of that of HDL. Appears to interfere directly with fatty acid uptake and is also the major plasma inhibitor of cholesteryl ester transfer protein (CETP). Binds free fatty acids and reduces their intracellular esterification. Modulates the interaction of APOE with beta-migrating VLDL and inhibits binding of beta-VLDL to the LDL receptor-related protein., [UniProtKB, PubMed, PubMed]; MiRNA-660-3p inhibits malignancy in glioblastoma via negative regulation of APOC1-TGFbeta2 signaling pathway., [RefSeq, PubMed]; Protective Association of APOC1/rs4420638 with Risk of Obesity: A case-control Study in Portuguese Children., [RefSeq, PubMed]; The endogenous retroviral promoters (LTRs) of the human endothelin B receptor (EDNRB) and apolipoprotein C1 (APOC1) genes have high sequence identity but differ in activity and tissue specificity., [RefSeq, PubMed]; This gene encodes a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. The encoded protein plays a central role in high density lipoprotein (HDL) and very low density lipoprotein (VLDL) metabolism. This protein has also been shown to inhibit cholesteryl ester transfer protein in plasma. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternative splicing and the use of alternative promoters 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "prognostic", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R526;Q6IB97", "ec_number_list": [], "go_molecular_function": "GO:0005504 fatty acid binding;GO:0031210 phosphatidylcholine binding;GO:0055102 lipase inhibitor activity;GO:0060228 phosphatidylcholine-sterol O-acyltransferase activator activity;GO:0004859 phospholipase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0034364 high-density lipoprotein particle;GO:0034361 very-low-density lipoprotein particle;GO:0042627 chylomicron", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006641 triglyceride metabolic process;GO:0033700 phospholipid efflux;GO:0042157 lipoprotein metabolic process;GO:0045717 negative regulation of fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "P02654-1", "record_type": "protein", "filter_code": "0001000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWZ3-1", "uniprot_id": [ { "id": "ANKH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWZ3", "type": "external" } ], "mass": 269458.0, "length": 2542, "protein_name": "Ankyrin repeat and KH domain-containing protein 1", "gene_name": "ANKHD1", "organism": "Human", "refseq_name": "ankyrin repeat and KH domain-containing protein 1 isoform 4", "refseq_ac": [ { "id": "NP_001183959", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001183959", "type": "external" } ], "gene_names_uniprotkb": "ANKHD1; KIAA1085; MASK; PP2500; VBARP", "gene_names_refseq": "ANKHD1; MASK1; MASK; PP2500; VBARP", "protein_names_uniprotkb": "Ankyrin repeat and KH domain-containing protein 1; HIV-1 Vpr-binding ankyrin repeat protein; Multiple ankyrin repeats single KH domain; hMASK", "protein_names_refseq": "HIV-1 Vpr-binding ankyrin repeat protein; ankyrin repeat and KH domain-containing protein 1 isoform 4; multiple ankyrin repeats, single KH-domain homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:404734); (hsa:54882)", "pathway_count": 2, "publication_count": 126, "publication_id_list": "10.1101/2023.09.13.557529;11237011;14557257;15498874;16098192;16297570;16956752;16964243;17081983;18452278;18669648;18767875;19413330;19690332;20305658;21740066;22424782;22661428;23186163;23301498;24275569;24715725;25576301;25645385;25810538;25880248;25892735;26154972;26811146;26992070;27655845;27812135;27846572;27920218;28228285;28510447;28604694;28649982;28657654;28832583;28834231;28904123;29237092;29242379;29331515;29351928;29393594;29493099;29508533;29557506;29769354;29786170;30059200;30315122;30379171;30397120;30410026;30429286;30484775;30524438;30620550;31217245;31492838;31844290;31848261;32119511;32157095;32265295;32357974;32387766;32488085;32502341;32562952;32635985;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34561969;34725712;34846842;34932366;35051231;35110552;35132862;35138101;35254053;35289036;35513511;35580925;35705054;36010968;36215666;36241641;36284347;37217939;37340703;37541260;37629022;38253038;38665916;38838015;39302247;39531497;39534244;40307207;40914422", "class_list": "", "function": "ANKHD1 is an S phase protein required for histone synthesis and DNA repair in multiple myeloma cells., [RefSeq, PubMed]; Emerging functions for ANKHD1 in cancer-related signaling pathways and cellular processes. Review article, [RefSeq, PubMed]; Evaluating the Molecular Properties and Function of ANKHD1, and Its Role in Cancer. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Identification of new splice variant with upregulation of its mRNA considerably higher than other variants during erythroid differentiation, [RefSeq, PubMed]; May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. Isoform 2 may possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases., [UniProtKB, PubMed]; The feedback loop of ANKHD1/lncRNA MALAT1/YAP1 strengthens the radioresistance of CRC by activating YAP1/AKT signaling. Publication Status: Online-Only, [RefSeq, PubMed]; These findings suggest a role for ANKHD1 as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells., [RefSeq, PubMed]; This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 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, Sep 2010]., [RefSeq]; VBARP is a novel splice variant of ANKHD1 and may play a role in cellular apoptosis (antiapoptotic) and cell survival pathway(s, [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": 35, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 35, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 35, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 66, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 39, "binding_glycan_count": 0, "secondary_ac_list": "A6NH85;Q149P2;Q8IWZ2;Q8WY90;Q96G77;Q96GK0;Q9H2U0;Q9HA95;Q9NWG4;Q9UPR7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "Q8IWZ3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXK5-1", "uniprot_id": [ { "id": "B2L13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXK5", "type": "external" } ], "mass": 52723.0, "length": 485, "protein_name": "Bcl-2-like protein 13", "gene_name": "BCL2L13", "organism": "Human", "refseq_name": "bcl-2-like protein 13 isoform e", "refseq_ac": [ { "id": "NP_001257658", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257658", "type": "external" } ], "gene_names_uniprotkb": "BCL2L13; CD003; MIL1", "gene_names_refseq": "BCL-RAMBO; BCL2L13; Bcl2-L-13; MIL1", "protein_names_uniprotkb": "Bcl-2-like protein 13; Bcl-rambo; Bcl2-L-13; Protein Mil1", "protein_names_refseq": "BCL2-like 13 (apoptosis facilitator); Bcl-2-like protein 13; bcl-2-like protein 13 isoform e", "tax_id": 9606, "disease": "", "pathway": " (hsa:23786)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11237011;11262395;11381032;12527362;17081983;17360363;18477386;18510355;18578522;18669648;18767875;19651622;19664994;20058876;20068231;20166139;21406692;23186163;24275569;24714562;25505266;25576301;27920218;28218747;28510447;28832583;28904123;29242379;29485866;29493099;29557506;29786170;30410026;31530632;31611695;31844290;32119511;32157095;32488085;32502341;32938616;32983136;33717175;33968037;33981976;34171305;34357683;34509645;34932366;35051231;35580925;35678981;36241641;37640805;37988705", "class_list": "", "function": "LncRNA SNHG14 is beneficial to oxygen glucose deprivation/reoxygenation-induced neuro-2a cell injury via mir-98-5p sequestration-caused BCL2L13 upregulation., [RefSeq, PubMed]; May promote the activation of caspase-3 and apoptosis., [UniProtKB]; Our data support the speculation that the Alu element insertion during the splicing process may play an important role in the generation of protein diversity in primate cells by a yet uncharacterized mechanism, [RefSeq, PubMed]; SidF contributes to apoptosis resistance in L. pneumophila-infected cells by specifically interacting with and neutralizing the effects of BNIP3 and Bcl-rambo, two proapoptotic members of Bcl2 protein family., [RefSeq, PubMed]; The BCL-2 family protein BCL-RAMBO interacts and cooperates with GRP75 to promote its apoptosis signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The role of BCL2L13 in glioblastoma: turning a need into a target. Review article, [RefSeq, PubMed]; This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants 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": 17, "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": "B3KPE7;Q96B37;Q96IB7;Q9BY01;Q9HC05;Q9UFE0;Q9UKN3", "ec_number_list": [], "go_molecular_function": "GO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0016020 membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0006915 apoptotic process;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9BXK5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54198-1", "uniprot_id": [ { "id": "HIRA_HUMAN", "url": "https://www.uniprot.org/uniprot/P54198", "type": "external" } ], "mass": 111835.0, "length": 1017, "protein_name": "Protein HIRA", "gene_name": "HIRA", "organism": "Human", "refseq_name": "protein HIRA", "refseq_ac": [ { "id": "NP_003316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003316", "type": "external" } ], "gene_names_uniprotkb": "HIRA; DGCR1; HIR; TUPLE1", "gene_names_refseq": "DGCR1; HIRA; TUP1; TUPLE1", "protein_names_uniprotkb": "Protein HIRA; TUP1-like enhancer of split protein 1", "protein_names_refseq": "DiGeorge critical region gene 1; HIR histone cell cycle regulation defective homolog A; TUP1-like enhancer of split protein 1; histone regulator A; protein HIRA", "tax_id": 9606, "disease": "chromosome 22q11.2 deletion syndrome, distal (Disease Ontology:DOID:0060413); tetralogy of Fallot (Disease Ontology:DOID:6419)", "pathway": " (hsa:7290); (R-HSA-2559584); (R-HSA-9821993)", "pathway_count": 3, "publication_count": 101, "publication_id_list": "11237011;11238922;12370293;14680630;14718166;15561718;15621527;15655109;16901784;16980972;17158953;17242198;17242207;18452278;18477386;18669648;19029251;19413330;19562805;19651622;19664995;19690332;20068231;21406692;21807893;22362753;23186163;23964094;24714562;24715725;25418920;25645385;25880248;25892735;26154972;26375851;26728094;26811146;26929215;26992070;27217568;27515126;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28334823;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30429286;31154438;31222486;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32502341;32938616;32983136;33141586;33537174;33592498;33717175;33912179;33968037;33981976;34509645;34932366;35051231;35254053;35318648;35580925;36284347;36581221;37638746;38824221;38977420;39178863;40596516;7633437;8111380;8681138;9063745;9710638", "class_list": "", "function": "Cooperates with ASF1A to promote replication-independent chromatin assembly. Required for the periodic repression of histone gene transcription during the cell cycle. Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit., [UniProtKB, PubMed, PubMed, PubMed]; Disparity of gene expression in coronary artery disease: insights from MEIS1, HIRA, and Myocardin. Publication Status: Online-Only, [RefSeq, PubMed]; HIRA-mediated loading of histone variant H3.3 controls androgen-induced transcription by regulation of AR/BRD4 complex assembly at enhancers., [RefSeq, PubMed]; Histone H3.3 chaperone HIRA renders stress-responsive genes poised for prospective lethal stresses in acquired tolerance., [RefSeq, PubMed]; Histone chaperone HIRA, promyelocytic leukemia protein, and p62/SQSTM1 coordinate to regulate inflammation during cell senescence., [RefSeq, PubMed]; This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. [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": 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": 21, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q05BU9;Q8IXN2", "ec_number_list": [], "go_molecular_function": "GO:0003714 transcription corepressor activity;GO:0042393 histone binding;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0070062 extracellular exosome;GO:0016605 PML body;GO:0000785 chromatin", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006334 nucleosome assembly;GO:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "P54198-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4P1-1", "uniprot_id": [ { "id": "ATG4B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4P1", "type": "external" } ], "mass": 44294.0, "length": 393, "protein_name": "Cysteine protease ATG4B", "gene_name": "ATG4B", "organism": "Human", "refseq_name": "cysteine protease ATG4B isoform a", "refseq_ac": [ { "id": "NP_037457", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037457", "type": "external" } ], "gene_names_uniprotkb": "ATG4B; APG4B; AUTL1; KIAA0943", "gene_names_refseq": "APG4B; ATG4B; AUTL1; HsAPG4B", "protein_names_uniprotkb": "Cysteine protease ATG4B; 3.4.22.-; AUT-like 1 cysteine endopeptidase; Autophagin-1; Autophagy-related cysteine endopeptidase 1; Autophagy-related protein 4 homolog B; HsAPG4B; hAPG4B", "protein_names_refseq": "APG4 autophagy 4 homolog B; ATG4 autophagy related 4 homolog B; AUT-like 1 cysteine endopeptidase; autophagin-1; autophagy-related cysteine endopeptidase 1; autophagy-related protein 4 homolog B; cysteine protease ATG4B isoform a; cysteine protease ATG4B; hAPG4B", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:23192); (R-HSA-1632852)", "pathway_count": 2, "publication_count": 122, "publication_id_list": "11096062;11237011;11825910;12446702;15169837;15187094;16183633;16325851;16963840;17081983;17322306;17347651;17618624;18321988;18439900;19211835;19322194;19369195;19590496;19651622;19664994;19690332;19855179;19898463;20059746;20068231;20713597;20818167;20921139;21177865;21205641;21258367;21383122;21406692;21460621;21819378;22170151;22223895;22302004;22682742;22706990;23093945;23202584;23301498;23685627;23727157;23884233;24275569;24715725;24747438;24954904;25484072;25505266;25568151;25880248;26154972;26378241;26992070;27527864;27846572;28218747;28228285;28287329;28633005;28821708;28832583;28834231;28904123;29165041;29232556;29242379;29393594;29437277;29458288;29508533;29557506;29632711;30076329;30315122;30410026;30429286;30443548;30661429;31315929;31844290;31848261;31880198;32157095;32350084;32357974;32387766;32488085;32502341;32686895;32938616;32983136;33141586;33298915;33592498;33607258;33691108;33717175;33773106;33909989;33936100;33968037;34019948;34078123;34229054;34509645;35051231;35154160;35580925;36010968;36241641;37434364;37701987;37952564;39305312;40307207;40914422;7628435", "class_list": "", "function": "ATG4B antagonizes antiviral immunity by GABARAP-directed autophagic degradation of TBK1., [RefSeq, PubMed]; Analysis of specificity and catalysis of HsAtg4B, [RefSeq, PubMed]; Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; Cysteine protease that plays a key role in autophagy by mediating both proteolytic activation and delipidation of ATG8 family proteins., [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]; FAT1 inhibits AML autophagy and proliferation via downregulating ATG4B expression., [RefSeq, PubMed]; HsAtg4B negatively regulates the localization of LC3 to a membrane compartment by delipidation, [RefSeq, PubMed]; Loss of ATG4B and ATG4A results in two-stage cell cycle defects in pancreatic ductal adenocarcinoma cells., [RefSeq, PubMed]; TDP-43 regulates LC3ylation in neural tissue through ATG4B cryptic splicing inhibition. 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": 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": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 29, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "B7WNK2;Q53NU4;Q6ZUV8;Q8WYM9;Q96K07;Q96K96;Q96SZ1;Q9Y2F2", "ec_number_list": [ { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0097110 scaffold protein binding;GO:0004197 cysteine-type endopeptidase activity;GO:0008234 cysteine-type peptidase activity;GO:0019786 protein-phosphatidylethanolamide deconjugating activity", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0006508 proteolysis;GO:0015031 protein transport;GO:0016485 protein processing;GO:0016236 macroautophagy", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "Q9Y4P1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15038-1", "uniprot_id": [ { "id": "DAZP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15038", "type": "external" } ], "mass": 17319.0, "length": 168, "protein_name": "DAZ-associated protein 2", "gene_name": "DAZAP2", "organism": "Human", "refseq_name": "DAZ-associated protein 2 isoform b", "refseq_ac": [ { "id": "NP_001129736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129736", "type": "external" } ], "gene_names_uniprotkb": "DAZAP2; KIAA0058; PRTB", "gene_names_refseq": "DAZAP2; PRTB", "protein_names_uniprotkb": "DAZ-associated protein 2; Deleted in azoospermia-associated protein 2; Proline-rich transcript in brain protein", "protein_names_refseq": "DAZ-associated protein 2 isoform b; deleted in azoospermia associated protein 2; proline-rich transcript in brain protein; proline-rich transcript in brain; proline-rich transcript, brain-expressed protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9802)", "pathway_count": 1, "publication_count": 83, "publication_id_list": "10857750;11237011;11342538;17935665;17984221;19304756;20112406;21274613;21750715;22070932;22771904;22869377;23481700;24715725;25576301;25645385;25880248;25892735;26154972;26375851;26992070;27543614;27600516;27846572;28514659;28832583;28904123;29242379;29314611;29331515;29393594;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30001391;30315122;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33591310;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34509645;34932366;35051231;35318648;35561310;35580925;36215666;36241641;36284347;37938771;39531497;39534244", "class_list": "", "function": "DAZAP2 acts as specifier of the p53 response to DNA damage., [RefSeq, PubMed]; In unstressed cells, promotes SIAH1-mediated polyubiquitination and degradation of the serine/threonine-protein kinase HIPK2, probably by acting as a loading factor that potentiates complex formation between HIPK2 and ubiquitin ligase SIAH1 (PubMed:33591310). In response to DNA damage, localizes to the nucleus following phosphorylation by HIPK2 and modulates the expression of a subset of TP53/p53 target genes by binding to TP53 at target gene promoters (PubMed:33591310). This limits the expression of a number of cell death-mediating TP53 target genes, reducing DNA damage-induced cell death (PubMed:33591310). Enhances the binding of transcription factor TCF7L2/TCF4, a Wnt signaling pathway effector, to the promoters of target genes (By similarity). Plays a role in stress granule formation (PubMed:17984221)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a proline-rich protein which interacts with the deleted in azoospermia (DAZ) and the deleted in azoospermia-like gene through the DAZ-like repeats. This protein also interacts with the transforming growth factor-beta signaling molecule SARA (Smad anchor for receptor activation), eukaryotic initiation factor 4G, and an E3 ubiquitinase that regulates its stability in splicing factor containing nuclear speckles. The encoded protein may function in various biological and pathological processes including spermatogenesis, cell signaling and transcription regulation, formation of stress granules during translation arrest, RNA splicing, and pathogenesis of multiple myeloma. 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": 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": 4, "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": "A8K254;B4DDT5;B4E1G3;C9JA96;C9JP84;E9PB45;F8VU62", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding;GO:0050699 WW domain binding;GO:0030971 receptor tyrosine kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0016604 nuclear body;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0031648 protein destabilization;GO:0034063 stress granule assembly", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q15038-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29374-1", "uniprot_id": [ { "id": "ARI4A_HUMAN", "url": "https://www.uniprot.org/uniprot/P29374", "type": "external" } ], "mass": 142752.0, "length": 1257, "protein_name": "AT-rich interactive domain-containing protein 4A", "gene_name": "ARID4A", "organism": "Human", "refseq_name": "AT-rich interactive domain-containing protein 4A isoform I", "refseq_ac": [ { "id": "NP_002883", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002883", "type": "external" } ], "gene_names_uniprotkb": "ARID4A; RBBP1; RBP1", "gene_names_refseq": "ARID4A; RBBP-1; RBBP1; RBP-1; RBP1", "protein_names_uniprotkb": "AT-rich interactive domain-containing protein 4A; ARID domain-containing protein 4A; RBBP-1; Retinoblastoma-binding protein 1", "protein_names_refseq": "ARID domain-containing protein 4A; AT rich interactive domain 4A (RBP1-like); AT-rich interactive domain-containing protein 4A isoform I; AT-rich interactive domain-containing protein 4A; retinoblastoma-binding protein 1", "tax_id": 9606, "disease": "acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:5926); (R-HSA-3214815); (R-HSA-9679191)", "pathway_count": 3, "publication_count": 107, "publication_id_list": "10087012;10444591;10449787;10748112;10904264;10922406;10926844;11237011;11509652;11739383;11742974;11909966;12032298;12724404;14581478;15302935;16115318;16522641;17043311;17211407;17662961;18077418;18452278;1857421;18669648;19608861;19651622;19690332;20068231;20223979;21148318;21587264;22247551;22401777;22544926;22552008;22814904;23186163;23481700;23487765;23641311;24272870;24379399;24584101;24715725;25576301;25755297;25772364;25801024;25892735;26002965;26101246;26992070;27846572;27862975;27920218;28425720;28832583;28904123;29242379;29408527;29493099;29557506;29786170;29797600;29945920;30201761;30315122;30779550;31048504;31154438;31844290;31848261;31937595;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33392160;33592498;33717175;33936100;33968037;34087483;34171305;34405274;34506790;34509645;34932366;35051231;35365808;35580925;36241641;37938771;7513682;7734418;8414517;8455946;9150135;9651585;9790534", "class_list": "", "function": "A novel heterozygous missense variant of the ARID4A gene identified in Han Chinese families with schizophrenia-diagnosed siblings that interferes with DNA-binding activity., [RefSeq, PubMed]; ARID4A and ARID4B may play the role as tumor suppressor gene in prostate cancer by inhibiting cell proliferation, migration, and invasion. Moreover, co-downregulation of ARID4A and ARID4B can predict poorer prognosis in prostate cancer, suggesting they might be the novel marker of prognosis and potential therapeutic targets for prostate cancer in human., [RefSeq, PubMed]; Consistently, our ITC assays also showed that DNA does not significantly enhance the histone binding ability of the chromo barrel domain of RBBP1., [RefSeq, PubMed]; DNA-binding protein which modulates activity of several transcription factors including RB1 (retinoblastoma-associated protein) and AR (androgen receptor) (By similarity). May function as part of an mSin3A repressor complex (PubMed:14581478). Has no intrinsic transcriptional activity (By similarity). Plays a role in the regulation of epigenetic modifications at the PWS/AS imprinting center near the SNRPN promoter, where it might function as part of a complex with RB1 and ARID4B (By similarity). Involved in spermatogenesis, together with ARID4B, where it acts as a transcriptional coactivator for AR and enhances expression of genes required for sperm maturation. Regulates expression of the tight junction protein CLDN3 in the testis, which is important for integrity of the blood-testis barrier (By similarity). Plays a role in myeloid homeostasis where it regulates the histone methylation state of bone marrow cells and expression of various genes involved in hematopoiesis. May function as a leukemia suppressor (By similarity)., [UniProtKB, PubMed, UniProtKB]; Structural Insight into Chromatin Recognition by Multiple Domains of the Tumor Suppressor RBBP1., [RefSeq, PubMed]; The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "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": "Q15991;Q15992;Q15993", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0000976 transcription cis-regulatory region binding;GO:0003690 double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0017053 transcription repressor 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:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "P29374-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q06609-1", "uniprot_id": [ { "id": "RAD51_HUMAN", "url": "https://www.uniprot.org/uniprot/Q06609", "type": "external" } ], "mass": 36966.0, "length": 339, "protein_name": "DNA repair protein RAD51 homolog 1", "gene_name": "RAD51", "organism": "Human", "refseq_name": "DNA repair protein RAD51 homolog 1 isoform 2", "refseq_ac": [ { "id": "NP_001157741", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157741", "type": "external" } ], "gene_names_uniprotkb": "RAD51; RAD51A; RECA", "gene_names_refseq": "BRCC5; FANCR; HRAD51; HsRad51; HsT16930; MRMV2; RAD51A; RAD51; RECA", "protein_names_uniprotkb": "DNA repair protein RAD51 homolog 1; 3.6.4.-; HsRAD51; RAD51 homolog A; hRAD51", "protein_names_refseq": "BRCA1/BRCA2-containing complex, subunit 5; DNA repair protein RAD51 homolog 1 isoform 2; DNA repair protein RAD51 homolog 1; RAD51 homolog A; RecA, E. coli, homolog of; RecA-like protein; recombination protein A", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); mirror movements 2 (Disease Ontology:DOID:0070637); Fanconi anemia complementation group R (Disease Ontology:DOID:0111090); hypertension (Disease Ontology:DOID:10763); Fanconi anemia (Disease Ontology:DOID:13636); 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); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:5888); (R-HSA-5685938); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693554); (R-HSA-5693568); (R-HSA-5693579); (R-HSA-5693616); (R-HSA-8953750); (R-HSA-912446); (R-HSA-9701192); (R-HSA-9704331); (R-HSA-9704646); (R-HSA-9709570); (R-HSA-9709603)", "pathway_count": 15, "publication_count": 275, "publication_id_list": "10029069;10212258;10373512;10390347;10438626;10493508;10551859;10562567;10570174;10728666;10733923;10734115;10744977;10801132;10807537;10851248;10856253;10921897;10928988;11006276;11171983;11237011;11292842;11459987;11535547;11571269;11684015;11698410;11751635;11832208;11842113;11884632;12004135;12139939;12191481;12205100;12226092;12228710;12370410;12379650;12427746;12442171;12686547;12721304;12750383;12909625;12912992;14527420;14580352;14716019;14734547;15014447;15164066;15165851;15226506;15304223;15330855;15359272;15485900;15536069;15665856;15703751;15916957;15937124;16123081;16215984;16292313;16322221;16337601;16428451;16793542;16990250;17001316;17114795;17200668;17200671;17200672;17289582;17420451;17515903;17515904;17541404;17600109;17666788;17962301;17965729;17977839;17981954;17996710;17996711;18256600;18317453;18417535;18449195;18535008;18539610;18541667;18562691;18757400;18957201;19074197;19268590;19285032;19303847;19369211;19427856;19584259;19596236;19609323;19783859;19941829;19995904;20044539;20044541;20062530;20154705;20207730;20231364;20348101;20413593;20705237;20729832;20729858;20729859;20818382;20871615;20871616;20965415;21252223;21276791;21520333;21565612;21596310;21653319;21804533;21965664;22153967;22194698;22305526;22325354;22593209;22645308;23149936;23393192;23401855;23509288;23686288;23731732;23754376;23810717;23954429;24013206;24023853;24029068;24076221;24141787;24204313;24371268;24485656;24509834;24627085;24831703;24835992;25502872;25539919;25576301;25642963;25880248;26145171;26154972;26253028;26681308;26811421;26833090;27600516;27685627;27797818;27846572;27862975;27899578;27920218;27941124;28089683;28158555;28228285;28240985;28319063;28571978;28575658;28832583;28834231;28904123;29165669;29242379;29331515;29507080;29508533;29557506;29608566;29632711;29789417;30289697;30311374;30315122;30406765;30429286;30779550;31217245;31222486;31530632;31586400;31636395;31757951;31844045;31844290;31847370;31848261;32157095;32161166;32387766;32502341;32640219;32732220;32897882;32938616;32983136;33123756;33195396;33592498;33717175;33912179;33968037;33978741;33981976;34087483;34171305;34440403;34561969;34932366;34937945;35051231;35318648;35580925;36215666;36241641;36284347;36581221;37499663;38314870;38459011;38509361;39242676;39268578;39636933;39894887;41166468;7623816;7988572;8358431;8479919;8702565;8929543;9008167;9192668;9311981;9321665;9396801;9450758;9461559;9501179;9689056;9704927;9781043;9826763;9837724", "class_list": "", "function": "Homologous DNA recombinase that catalyzes strand exchange, a key step in DNA repair through homologous recombination (HR) (PubMed:12205100, PubMed:12442171, PubMed:15937124, PubMed:17515904, PubMed:17515903, PubMed:18417535, PubMed:19303847, PubMed:20231364, PubMed:20348101, PubMed:22325354, PubMed:23509288, PubMed:23754376, PubMed:24141787, PubMed:26681308, PubMed:27941124, PubMed:28575658, PubMed:32640219, PubMed:37499663, PubMed:38509361, PubMed:7988572). Binds to single-stranded DNA (ssDNA) in an ATP-dependent manner to form nucleoprotein filaments which are essential for the homology search and strand exchange (PubMed:12205100, PubMed:15937124, PubMed:17515904, PubMed:17515903, PubMed:18417535, PubMed:19303847, PubMed:15226506, PubMed:20231364, PubMed:20348101, PubMed:23509288, PubMed:23754376, PubMed:26681308, PubMed:28575658, PubMed:37499663, PubMed:39636933, PubMed:41166468, PubMed:38509361, PubMed:7988572). Catalyzes the recognition of homology and strand exchange between homologous DNA partners to form a joint molecule between a processed DNA break and the repair template (PubMed:12205100, PubMed:18417535, PubMed:19303847, PubMed:20231364, PubMed:20348101, PubMed:23509288, PubMed:23754376, PubMed:26681308, PubMed:28575658, PubMed:38459011). RAD51 targeting to ssDNA promotes removal of replication protein-A (RPA) from ssDNA and stabilization of RAD51-ssDNA filaments by blocking ATP hydrolysis (PubMed:20729859). Nucleosomal DNA is peeled from the histone surface by the RAD51 filament (PubMed:38509361). Recruited to resolve stalled replication forks during replication stress (PubMed:27797818, PubMed:31844045). Also required for homologous recombination during meiosis by acting as an non-catalytic accessory factor for DMC1 recombinase, enabling proper chromosome pairing and crossing over (By similarity). Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51C and XRCC3 (PubMed:20413593). Also involved in interstrand cross-link repair (PubMed:26253028)., [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]; Hyper-recombination in ribosomal DNA is driven by long-range resection-independent RAD51 accumulation. Publication Status: Online-Only, [RefSeq, PubMed]; Mechanism of BCDX2-mediated RAD51 nucleation on short ssDNA stretches and fork DNA., [RefSeq, 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, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 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": 10, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 4, "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": "B0FXP0;B2R8T6;Q6FHX9;Q6ZNA8;Q9BV60", "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": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "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": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "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": "5.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.1", "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": "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": "2.3.1.48", "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": "3.1.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.22.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "type": "external" }, { "id": "3.1.13.1", "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:0003682 chromatin binding;GO:0005524 ATP binding;GO:0016787 hydrolase activity;GO:0019899 enzyme binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006312 mitotic recombination;GO:0010833 telomere maintenance via telomere lengthening;GO:2000001 regulation of DNA damage checkpoint;GO:0006281 DNA repair;GO:0006310 DNA recombination", "synthesized_glycan_count": 0, "hit_score": 27.8, "record_id": "Q06609-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3SY00-1", "uniprot_id": [ { "id": "T10IP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3SY00", "type": "external" } ], "mass": 62381.0, "length": 556, "protein_name": "Testis-specific protein 10-interacting protein", "gene_name": "TSGA10IP", "organism": "Human", "refseq_name": "testis-specific protein 10-interacting protein isoform b", "refseq_ac": [ { "id": "NP_689975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689975", "type": "external" } ], "gene_names_uniprotkb": "TSGA10IP", "gene_names_refseq": "FAM161C; TSGA10IP", "protein_names_uniprotkb": "Testis-specific protein 10-interacting protein; Tsga10-interacting protein", "protein_names_refseq": "testis-specific protein 10-interacting protein isoform b; testis-specific protein 10-interacting protein; tsga10-interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:254187)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "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": 9, "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": "Q3SXZ9;Q3SY01;Q96M26", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0032391 photoreceptor connecting cilium", "go_biological_process": "GO:0044782 cilium organization", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q3SY00-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR80-1", "uniprot_id": [ { "id": "ARHG4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR80", "type": "external" } ], "mass": 79067.0, "length": 690, "protein_name": "Rho guanine nucleotide exchange factor 4", "gene_name": "ARHGEF4", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 4 isoform a", "refseq_ac": [ { "id": "NP_056135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056135", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF4; KIAA1112", "gene_names_refseq": "ARHGEF4; ASEF1; ASEF; GEF4; STM6", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 4; APC-stimulated guanine nucleotide exchange factor 1; Asef1; Asef", "protein_names_refseq": "APC-stimulated guanine nucleotide exchange factor 1; Rho guanine nucleotide exchange factor (GEF) 4; rho guanine nucleotide exchange factor 4 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:50649); (R-HSA-193648); (R-HSA-416482); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9958810)", "pathway_count": 7, "publication_count": 353, "publication_id_list": 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"class_list": "", "function": "Acts as a guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Binding of APC may activate RAC1 GEF activity. The APC-ARHGEF4 complex seems to be involved in cell migration as well as in E-cadherin-mediated cell-cell adhesion. 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]; Conformational Selection Mechanism Provides Structural Insights into the Optimization of APC-Asef Inhibitors. Publication Status: Online-Only, [RefSeq, PubMed]; Evaluation of an immunohistochemical staining of 102 resected pancreatic cancer samples demonstrated that high ARHGEF4 expression was correlated with an independent predictor of worse overall survival. ARHGEF4 induces the formation of cell protrusions by increasing phosphorylated ERK1/2 and GSK-3alpha/beta, resulting in an increase in motility and invasiveness in pancreatic ductal adenocarcinoma cells., [RefSeq, PubMed]; Our results indicate a possible contribution of CNVs in LEPR, NEGR1, ARHGEF4, and CPXCR1 and the intergenic regions 12q15c, 15q21.1a, and 22q11.21d to the development of obesity, particularly abdominal obesity in Mexican children., [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 protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013]., [RefSeq]; The armadillo repeats in full-length APC interact with the APC residues 1362 to 1540 (APC-2,3 repeats), and this interaction competes off and inhibits Asef. Deletion of APC-2,3 repeats permits Asef interactions leading to downstream signaling events, including the induction of Golgi fragmentation through the activation of the Asef-ROCK-MLC2. 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": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9HDC6;Q9UPP0", "ec_number_list": [], "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0032587 ruffle membrane;GO:0005737 cytoplasm", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0046847 filopodium assembly;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0030032 lamellipodium assembly", "synthesized_glycan_count": 0, "hit_score": 35.7, "record_id": "Q9NR80-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWY0-1", "uniprot_id": [ { "id": "ARSK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWY0", "type": "external" } ], "mass": 61450.0, "length": 536, "protein_name": "Arylsulfatase K", "gene_name": "ARSK", "organism": "Human", "refseq_name": "arylsulfatase K precursor", "refseq_ac": [ { "id": "NP_937793", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_937793", "type": "external" } ], "gene_names_uniprotkb": "ARSK; PRO1246; TSULF", "gene_names_refseq": "ARSK; MPS10; TSULF", "protein_names_uniprotkb": "Arylsulfatase K; 3.1.6.18; 3.1.6.1; ASK; Glucuronate-2-sulfatase; Telethon sulfatase", "protein_names_refseq": "ASK; arylsulfatase K precursor; arylsulfatase K; glucuronate-2-sulfatase; telethon sulfatase", "tax_id": 9606, "disease": "mucopolysaccharidosis X (Disease Ontology:DOID:0061128); mucopolysaccharidosis (Disease Ontology:DOID:12798)", "pathway": " (hsa:153642); (R-HSA-1663150); (R-HSA-9840310)", "pathway_count": 3, "publication_count": 148, "publication_id_list": "10.1101/2023.09.13.557529;10191093;10196694;10406958;10781797;10823942;10861246;10942779;10993717;11237011;11350180;11489889;11707436;11784319;12374214;12510003;12518053;12566438;12594539;12662933;12757705;12757706;12885774;12888274;12909021;12975309;1352293;1352993;14563551;15003450;15213228;15458386;15657036;15708861;15714521;15773042;15845354;15962010;16174644;16229686;16230343;1634229;16368756;16478472;16500042;16517606;16595074;16698036;1670590;1678251;17105727;1718266;1720305;1740330;1756715;1840600;18524657;1889421;1907800;1915858;19405096;19836391;2001789;20728381;235289;23986440;239890;24190977;2562955;2717620;27846572;28055182;28126847;28218747;28228285;28514659;28832583;29242379;29331515;29437277;29443946;29557506;2960521;2965147;29692406;2970528;2971395;29747811;2976757;29802621;3014515;30315122;30429286;3048308;30484775;31217245;3136930;31495489;3158659;31844290;32157095;32161166;32350084;32357974;32387766;32938616;32983136;33912179;33968037;34357683;34509645;3456607;34916232;35051231;35251023;35959767;36010968;36241641;36284347;37074911;38634625;39531497;39940;5135907;5164093;527942;5822067;7504405;7628016;7730378;7744740;7852280;8281145;8370580;8399327;8573994;8591035;8663398;8681943;8804427;8889578;8955159;8985184;9217013;9338580;9520418;9521684;9699462", "class_list": "glycogene", "function": "Arylsulfatase K, a novel lysosomal sulfatase., [RefSeq, PubMed]; Catalyzes the hydrolysis of pseudosubstrates such as p-nitrocatechol sulfate and p-nitrophenyl sulfate (PubMed:23986440). Catalyzes the hydrolysis of the 2-sulfate groups of the 2-O-sulfo-D-glucuronate residues of chondroitin sulfate, heparin and heparitin sulfate (PubMed:28055182, PubMed:34916232). Acts selectively on 2-sulfoglucuronate and lacks activity against 2-sulfoiduronate (PubMed:28055182)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Further characterization of ARSK-related mucopolysaccharidosis type 10., [RefSeq, PubMed]; Sulfatases (EC 3.1.5.6), such as ARSK, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]., [RefSeq]; The identification, molecular cloning and initial characterization of three new members of this human gene family is reported., [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": 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": 1, "reported_glycation": 0, "reported_snv": 660, "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": "A2BDE3;B4E1I4;Q3ZCW3;Q8N3Q8", "ec_number_list": [ { "id": "3.1.6.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.2", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.1.6.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.-", "type": "external" }, { "id": "3.1.6.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.1", "type": "external" }, { "id": "3.1.6.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.18", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "1.8.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.7", "type": "external" }, { "id": "3.1.6.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.15", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004065 arylsulfatase activity;GO:0015024 glucuronate-2-sulfatase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0005764 lysosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 15.8, "record_id": "Q6UWY0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04424-1", "uniprot_id": [ { "id": "ARLY_HUMAN", "url": "https://www.uniprot.org/uniprot/P04424", "type": "external" } ], "mass": 51658.0, "length": 464, "protein_name": "Argininosuccinate lyase", "gene_name": "ASL", "organism": "Human", "refseq_name": "argininosuccinate lyase isoform 1", "refseq_ac": [ { "id": "NP_000039", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000039", "type": "external" } ], "gene_names_uniprotkb": "ASL", "gene_names_refseq": "ASAL; ASLD; ASL", "protein_names_uniprotkb": "Argininosuccinate lyase; 4.3.2.1; ASAL; Arginosuccinase", "protein_names_refseq": "argininosuccinase; argininosuccinate lyase isoform 1; arginosuccinase", "tax_id": 9606, "disease": "argininosuccinic aciduria (Disease Ontology:DOID:14755); hepatocellular carcinoma (Disease Ontology:DOID:684); amino acid metabolic disorder (Disease Ontology:DOID:9252); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:435); (R-HSA-70635); (R-HSA-9956529)", "pathway_count": 3, "publication_count": 102, "publication_id_list": "10369256;10813810;11237011;11237854;11747432;11747433;12408190;12459178;12807890;12859189;12948741;15050968;16141327;16959974;1705937;17326097;17407445;17496144;17900240;18263583;18323623;19006241;19703900;19754428;20167786;21290785;21872626;21993680;22076378;22081021;2263616;23481700;23649895;24166829;24703693;24714562;24715725;25418920;25505266;25576301;26154972;2644168;26592762;26992070;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29786170;30315122;30410026;30524438;31217245;31844290;32157095;32357974;32387766;32410394;32502341;32897882;32938616;32983136;33298915;33592498;3368457;33691108;33717175;33846069;33851512;33912179;3391281;33968037;33981976;34087483;34171305;34357683;34405274;34509645;3463959;35051231;35580925;36010968;36241641;37490345;518841;6249820;6372096;7649538;8898077;9045711;9256435;9686347;9852088", "class_list": "", "function": "Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression. Publication Status: Online-Only, [RefSeq, PubMed]; Biomarkers for liver disease in urea cycle disorders., [RefSeq, PubMed]; Catalyzes the reversible cleavage of L-argininosuccinate to fumarate and L-arginine, an intermediate step reaction in the urea cycle mostly providing for hepatic nitrogen detoxification into excretable urea as well as de novo L-arginine synthesis in nonhepatic tissues (PubMed:11747432, PubMed:11747433, PubMed:22081021, PubMed:2263616, PubMed:9045711). Essential regulator of intracellular and extracellular L-arginine pools. As part of citrulline-nitric oxide cycle, forms tissue-specific multiprotein complexes with argininosuccinate synthase ASS1, transport protein SLC7A1 and nitric oxide synthase NOS1, NOS2 or NOS3, allowing for cell-autonomous L-arginine synthesis while channeling extracellular L-arginine to nitric oxide synthesis pathway (PubMed:22081021)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Clinical and genetic analysis of five Chinese patients with urea cycle disorders., [RefSeq, PubMed]; This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "E7EMI0;E9PE48;Q6LDS5;Q96HS2", "ec_number_list": [ { "id": "4.3.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.3.2.1", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0004056 argininosuccinate lyase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0045429 positive regulation of nitric oxide biosynthetic process;GO:0000050 urea cycle;GO:0006526 L-arginine biosynthetic process;GO:0006525 arginine metabolic process;GO:0042450 L-arginine biosynthetic process via ornithine", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "P04424-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y587-1", "uniprot_id": [ { "id": "AP4S1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y587", "type": "external" } ], "mass": 17005.0, "length": 144, "protein_name": "AP-4 complex subunit sigma-1", "gene_name": "AP4S1", "organism": "Human", "refseq_name": "AP-4 complex subunit sigma-1 isoform 2", "refseq_ac": [ { "id": "NP_001121598", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121598", "type": "external" } ], "gene_names_uniprotkb": "AP4S1", "gene_names_refseq": "AP47B; AP4S1; CLA20; CLAPS4; CPSQ6; SPG52", "protein_names_uniprotkb": "AP-4 complex subunit sigma-1; AP-4 adaptor complex subunit sigma-1; Adaptor-related protein complex 4 subunit sigma-1; Sigma-1 subunit of AP-4; Sigma-4-adaptin; Sigma4-adaptin", "protein_names_refseq": "AP-4 adapter complex subunit sigma-1; AP-4 adaptor complex subunit sigma-1; AP-4 complex subunit sigma-1 isoform 2; adaptor related protein complex 4 sigma 1 subunit; clathrin-associated/assembly/adaptor protein, sigma 4; sigma-4-adaptin", "tax_id": 9606, "disease": "hereditary spastic paraplegia 52 (Disease Ontology:DOID:0110804)", "pathway": " (hsa:11154); (R-HSA-432720)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10066790;10394364;10436028;11139587;11237011;11333915;11604418;11694590;11994746;16155256;16867982;17116749;19559397;19651769;20230749;20708039;21620353;25552650;27444738;28510447;29393594;29557506;31660686;31844290;32216065;32983136;33936100;8374173;8524399;8670264;9733768", "class_list": "", "function": "Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Identification of mutations in AP4S1/SPG52 in hereditary spastic paraplegia., [RefSeq, PubMed]; Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52., [RefSeq, PubMed]; Premature stop mutations in AP4S1 result in loss of AP-4 complex assembly and cause fever-sensitive seizures, developmental delay and spastic paraplegia., [RefSeq, PubMed]; This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. 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 6. [provided by RefSeq, Dec 2011]., [RefSeq]; Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "G3V2N8;Q6IAQ4;Q86U36;Q9BVE7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0031904 endosome lumen;GO:0032588 trans-Golgi network membrane;GO:0005802 trans-Golgi network;GO:0030124 AP-4 adaptor complex;GO:0005737 cytoplasm", "go_biological_process": "GO:0015031 protein transport;GO:0006605 protein targeting;GO:0016192 vesicle-mediated transport;GO:0008104 intracellular protein localization;GO:0006886 intracellular protein transport", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9Y587-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2F9-1", "uniprot_id": [ { "id": "BTBD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2F9", "type": "external" } ], "mass": 58420.0, "length": 522, "protein_name": "BTB/POZ domain-containing protein 3", "gene_name": "BTBD3", "organism": "Human", "refseq_name": "BTB/POZ domain-containing protein 3 isoform b", "refseq_ac": [ { "id": "NP_001269479", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269479", "type": "external" } ], "gene_names_uniprotkb": "BTBD3; KIAA0952", "gene_names_refseq": "BTBD3; dJ742J24.1", "protein_names_uniprotkb": "BTB/POZ domain-containing protein 3", "protein_names_refseq": "BTB (POZ) domain containing 3; BTB/POZ domain-containing protein 3 isoform b; BTB/POZ domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:22903)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;20463552;21720722;25576301;25645385;26154972;26992070;27846572;28904123;29557506;30429286;30484775;31154438;31222486;31530632;31844290;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32938616;33298915;33392160;33537174;33912179;33968037;34087483;34185709;35051231;35318648;35580925;36010968;36215666;36241641;37938771", "class_list": "", "function": "Acts as a key regulator of dendritic field orientation during development of sensory cortex. Also directs dendrites toward active axon terminals when ectopically expressed (By similarity)., [UniProtKB]; BTBD3 is repressed by miR-9 and -181c, either alone or in combination., [RefSeq, PubMed]; 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": 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": "D3DW19;Q5JY73", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0021987 cerebral cortex development;GO:0048813 dendrite morphogenesis;GO:0022008 neurogenesis", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9Y2F9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P40616-1", "uniprot_id": [ { "id": "ARL1_HUMAN", "url": "https://www.uniprot.org/uniprot/P40616", "type": "external" } ], "mass": 20418.0, "length": 181, "protein_name": "ADP-ribosylation factor-like protein 1", "gene_name": "ARL1", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001168", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001168", "type": "external" } ], "gene_names_uniprotkb": "ARL1", "gene_names_refseq": "ARFL1; ARL1", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 1", "protein_names_refseq": "ADP ribosylation factor like GTPase 1; ADP-ribosylation factor-like 1; ADP-ribosylation factor-like protein 1 isoform 1; ADP-ribosylation factor-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:400); (R-HSA-6811440)", "pathway_count": 2, "publication_count": 112, "publication_id_list": "10209123;10445031;10559959;10637310;10865125;10990452;11237011;11303027;11346801;11359012;11689439;11827983;11839770;12070132;12377769;12620188;12620189;12972563;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;20685960;21183348;21239483;21421921;21436057;21689688;21807881;22335553;22354037;22581368;22679020;22717455;22981988;23091056;23437303;24794632;24835460;25255805;25343031;26992070;27373159;27436755;28832583;29242379;29437277;29557506;30429286;30833945;31575603;31844290;31848261;32157095;32161166;32350084;32488085;32938616;33592498;33715220;33717175;34171305;34932366;35051231;35083852;35251023;35318648;35494241;35580925;36241641;37217939;7814376;7909812;8221884;8440258;8620540;8636227;8670882;9050864;9177194;9230071;9590177;9624189", "class_list": "", "function": "ArfGAP1 acts as a GTPase-activating protein for human ADP-ribosylation factor-like 1 protein., [RefSeq, PubMed]; GTP-binding protein that recruits several effectors, such as golgins, arfaptins and Arf-GEFs to the trans-Golgi network, and modulates their functions at the Golgi complex (PubMed:21239483, PubMed:22679020, PubMed:27373159, PubMed:27436755, PubMed:9624189, PubMed:12972563). Plays thereby a role in a wide range of fundamental cellular processes, including cell polarity, innate immunity, or protein secretion mediated by arfaptins, which were shown to play a role in maintaining insulin secretion from pancreatic beta cells (PubMed:22981988)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Plasticity allows Arl1 to interact with different effectors of unrelated structure., [RefSeq, PubMed]; The ARFRP1 functions upstream of two other ARL GTPases, ARL1 and ARL5, which in turn recruit golgins and GARP, respectively, to the trans-Golgi network (TGN). Erratum:[J Cell Biol. 2019 Nov 4;218(11):3880-3881. doi: 10.1083/jcb.20190509710072019c. PMID: 31604800], [RefSeq, PubMed]; 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). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]., [RefSeq]; Together the findings indicate that Arl1 links Rab4-dependent formation of endosomal sorting domains with downstream assembly of adaptor protein complexes that constitute the endosomal sorting machinery., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B4DWW1;P80417;Q53XB1", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0008047 enzyme activator activity;GO:0019904 protein domain specific binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0032588 trans-Golgi network membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport;GO:0009404 toxin metabolic process;GO:0042147 retrograde transport, endosome to Golgi;GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "P40616-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15923-1", "uniprot_id": [ { "id": "TFE2_HUMAN", "url": "https://www.uniprot.org/uniprot/P15923", "type": "external" } ], "mass": 67600.0, "length": 654, "protein_name": "Transcription factor E2-alpha", "gene_name": "TCF3", "organism": "Human", "refseq_name": "transcription factor E2-alpha isoform E47", "refseq_ac": [ { "id": "NP_001129611", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129611", "type": "external" } ], "gene_names_uniprotkb": "TCF3; BHLHB21; E2A; ITF1", "gene_names_refseq": "AGM8A; AGM8B; AGM8; E2A; E47; ITF1; TCF-3; TCF3; VDIR; bHLHb21; p75", "protein_names_uniprotkb": "Transcription factor E2-alpha; Class B basic helix-loop-helix protein 21; Immunoglobulin enhancer-binding factor E12/E47; Immunoglobulin transcription factor 1; Kappa-E2-binding factor; TCF-3; Transcription factor 3; Transcription factor ITF-1; bHLHb21", "protein_names_refseq": "E2A-HLF fusion transcript protein; NOL1-TCF3 fusion; VDR interacting repressor; class B basic helix-loop-helix protein 21; helix-loop-helix protein HE47; immunoglobulin transcription factor 1; kappa-E2-binding factor; negative vitamin D response element-binding protein; transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47); transcription factor E2-alpha isoform E47; transcription factor E2-alpha; transcription factor ITF-1; vitamin D receptor-interacting repressor", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); Pitt-Hopkins syndrome (Disease Ontology:DOID:0060488); agammaglobulinemia 8A (Disease Ontology:DOID:0081140); agammaglobulinemia 8B (Disease Ontology:DOID:0081143); prostate cancer (Disease Ontology:DOID:10283); colorectal cancer (Disease Ontology:DOID:9256); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:6929); (R-HSA-525793); (R-HSA-8939236); (R-HSA-9764725); (R-HSA-9839394); (R-HSA-9943411)", "pathway_count": 6, "publication_count": 160, "publication_id_list": "10.1101/2023.09.13.557529;10086727;10199952;10330143;10601328;10655587;10805738;11114297;11237011;11782431;11847229;11912130;12634428;12682017;12700765;1386162;14592976;14752053;15044608;15542832;15647753;15678106;15719023;16263726;16372014;1671560;16959974;16964243;17130829;17433364;17467953;17717186;18042460;1818757;18280240;18299279;18669648;18701449;19564926;19651622;1967982;1967983;19690332;19801649;20068231;20160094;20211137;20418909;20871592;20887958;2105528;21119685;2112746;21571218;22012064;22046413;22158034;22424782;22569126;22897851;22922743;2308859;23186163;23466526;23481700;24216514;24397554;24714562;24715725;2493990;25043025;25218447;25394790;25466284;25576301;25645385;25728771;25755297;25802875;26154972;26212009;26811146;26992070;27137657;27600516;27661449;28218747;28228285;28532655;28649982;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29729076;30063982;30315122;30410026;30429286;30467960;30484775;30524438;30898548;31217245;31409900;31696227;31844290;32157095;32357974;32387766;32502341;32897882;32938616;33298915;33537174;33592498;33608512;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34405274;34509645;35008676;35051231;35132862;35138000;35254053;35292107;35561310;35580925;35851744;36010968;36215666;36241641;37222488;37721971;37938771;38047107;38303515;38393342;38665916;39531497;40307207;8433970;9069290;9409784;9418854;9786951;9858528;9988769", "class_list": "", "function": "E47 as a novel glucocorticoid-dependent gene mediating lipid metabolism in patients with endogenous glucocorticoid excess. Publication Status: Online-Only, [RefSeq, PubMed]; Embryonic stem cell related gene regulates alternative splicing of transcription factor 3 to maintain human embryonic stem cells' self-renewal and pluripotency., [RefSeq, PubMed]; Facilitates ATOH7 binding to DNA at the consensus sequence 5'-CAGGTG-3', and positively regulates transcriptional activity., [UniProtKB, PubMed]; This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. E proteins play a critical role in lymphopoiesis, and the encoded protein is required for B and T lymphocyte development. Deletion of this gene or diminished activity of the encoded protein may play a role in lymphoid malignancies. This gene is also involved in several chromosomal translocations that are associated with lymphoid malignancies including pre-B-cell acute lymphoblastic leukemia (t(1;19), with PBX1), childhood leukemia (t(19;19), with TFPT) and acute leukemia (t(12;19), with ZNF384). 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 9. [provided by RefSeq, Sep 2011]., [RefSeq]; Transcription Factor TCF3 Promotes Macrophage-Mediated Inflammation and MMP Secretion in Abdominal Aortic Aneurysm by Regulating miR-143-5p /CCL20. Publication Status: Online-Only, [RefSeq, PubMed]; Transcription factor 3 is dysregulated in megakaryocytes in myelofibrosis., [RefSeq, PubMed]; Transcriptional regulator involved in the initiation of neuronal differentiation and mesenchymal to epithelial transition (By similarity). Heterodimers between TCF3 and tissue-specific basic helix-loop-helix (bHLH) proteins play major roles in determining tissue-specific cell fate during embryogenesis, like muscle or early B-cell differentiation (By similarity). Together with TCF15, required for the mesenchymal to epithelial transition (By similarity). Dimers bind DNA on E-box motifs: 5'-CANNTG-3' (By similarity). Binds to the kappa-E2 site in the kappa immunoglobulin gene enhancer (PubMed:2493990). Binds to IEB1 and IEB2, which are short DNA sequences in the insulin gene transcription control region (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": 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": 22, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 7, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "P15883;Q14208;Q14635;Q14636;Q2TB39;Q2TB40;Q9UPI9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;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:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007399 nervous system development;GO:0045666 positive regulation of neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 16.9, "record_id": "P15923-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCK8-1", "uniprot_id": [ { "id": "CHD8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCK8", "type": "external" } ], "mass": 290519.0, "length": 2581, "protein_name": "ATP-dependent chromatin remodeler CHD8", "gene_name": "CHD8", "organism": "Human", "refseq_name": "ATP-dependent chromatin remodeler CHD8 isoform 1", "refseq_ac": [ { "id": "NP_001164100", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164100", "type": "external" } ], "gene_names_uniprotkb": "CHD8; HELSNF1; KIAA1564", "gene_names_refseq": "AUTS18; CHD8; HELSNF1; IDDAM", "protein_names_uniprotkb": "ATP-dependent chromatin remodeler CHD8; 3.6.4.-; CHD-8; Chromo domain-containing protein 8", "protein_names_refseq": "ATP-dependent chromatin remodeler CHD8 isoform 1; ATP-dependent chromatin remodeler CHD8; ATP-dependent helicase CHD8; axis duplication inhibitor; chromo domain-containing protein 8; duplin; helicase with SNF2 domain 1", "tax_id": 9606, "disease": "CHARGE syndrome (Disease Ontology:DOID:0050834); autism spectrum disorder (Disease Ontology:DOID:0060041); congenital heart disease (Disease Ontology:DOID:1682); intellectual developmental disorder with autism and macrocephaly (MONDO:MONDO:0014017)", "pathway": " (hsa:57680); (R-HSA-3769402); (R-HSA-9943962)", "pathway_count": 3, "publication_count": 169, "publication_id_list": "10.1101/2023.09.13.557529;10549281;10898789;10921920;10944533;11237011;11274398;11356022;11507205;11691915;11744694;12408824;12408825;12712206;14600025;14685266;15132997;15327769;15525529;15960975;16095617;16510874;16878130;16949368;16964243;17027977;17081983;17143291;17218525;17350655;17412698;17545556;17603073;17698607;17875931;17938208;18220336;18378692;18456656;18573912;18598779;18669648;18819930;19047045;19364920;19590513;19690332;19928349;19940019;20068231;20453063;21406692;21899694;22083958;22304967;23160955;23186163;23285124;23408615;23481700;24291232;24715725;24998929;25218447;25418920;25576301;25645385;25880248;25892735;26375851;26637798;26768311;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28533432;28832583;28834231;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30418433;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31373491;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33323470;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34846842;34932366;35051231;35132862;35138101;35254053;35318648;35494241;35561310;35580925;36010968;36241641;36284347;36537238;37340703;37541260;37802044;37938771;38441608;38622540;38665916;38838015;39302247;39480606;39531497;39534244;40136647;40307207;6261960", "class_list": "", "function": "ATP-dependent chromatin-remodeling factor, it slides nucleosomes along DNA; nucleosome sliding requires ATP (PubMed:28533432). Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved in both enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Acts as a suppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity. Also acts as a transcription activator via its interaction with ZNF143 by participating in efficient U6 RNA polymerase III transcription. Regulates alternative splicing of a core group of genes involved in neuronal differentiation, cell cycle and DNA repair. Enables H3K36me3-coupled transcription elongation and co-transcriptional RNA processing likely via interaction with HNRNPL., [UniProtKB, HAMAP, PubMed, PubMed, PubMed, PubMed]; CHD8 promotes the association of beta-catenin and histone H1, with formation of the trimeric complex on chromatin being required for inhibition of beta-catenin-dependent transactivation., [RefSeq, PubMed]; CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes., [RefSeq, PubMed]; Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction., [RefSeq, PubMed]; Indings suggest that CHD8 disruptions represent a specific pathway in the development of Autism spectrum disorder (ASD) and define a distinct ASD subtype. Common phenotypic features include increased head size; a facial phenotype marked by prominent forehead, wide-set eyes, and pointed chin; as well as increased rates of GI complaints and marked sleep dysfunction., [RefSeq, PubMed]; Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions. Publication Status: Online-Only, [RefSeq, PubMed]; The Deficiency of the ASD-Related Gene CHD8 Disrupts Behavioral Patterns and Inhibits Hippocampal Neurogenesis in Mice. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. This gene has been shown to function in several processes that include transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Allelic variants of this gene are associated with autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 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": 21, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 21, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 21, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 67, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 4, "glyco_site_count": 23, "binding_glycan_count": 0, "secondary_ac_list": "Q4G0D8;Q68DQ0;Q6DKH9;Q6P440;Q6ZNL7;Q8N3Z9;Q8NCY4;Q8TBR9;Q96F26", "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": "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:0003677 DNA binding;GO:0003682 chromatin binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0071339 MLL1 complex;GO:0032991 protein-containing complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006397 mRNA processing;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 19.5, "record_id": "Q9HCK8-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WYB5-1", "uniprot_id": [ { "id": "KAT6B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WYB5", "type": "external" } ], "mass": 231378.0, "length": 2073, "protein_name": "Histone acetyltransferase KAT6B", "gene_name": "KAT6B", "organism": "Human", "refseq_name": "histone acetyltransferase KAT6B isoform 2", "refseq_ac": [ { "id": "NP_001243397", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243397", "type": "external" } ], "gene_names_uniprotkb": "KAT6B; KIAA0383; MORF; MOZ2; MYST4", "gene_names_refseq": "GTPTS; KAT6B; MORF; MOZ2; MYST4; ZC2HC6B; qkf; querkopf", "protein_names_uniprotkb": "Histone acetyltransferase KAT6B; 2.3.1.48; Histone acetyltransferase MOZ2; MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4; MYST-4; Monocytic leukemia zinc finger protein-related factor", "protein_names_refseq": "K(lysine) acetyltransferase 6B; MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4; MOZ-related factor; MYST histone acetyltransferase (monocytic leukemia) 4; MYST-4; histone acetyltransferase KAT6B isoform 2; histone acetyltransferase KAT6B; histone acetyltransferase MORF; histone acetyltransferase MOZ2; histone acetyltransferase MYST4; monocytic leukemia zinc finger protein-related factor", "tax_id": 9606, "disease": "Ohdo syndrome, SBBYS variant (Disease Ontology:DOID:0060290); leiomyoma (Disease Ontology:DOID:127); breast cancer (Disease Ontology:DOID:1612); bipolar disorder (Disease Ontology:DOID:3312); Noonan syndrome (Disease Ontology:DOID:3490); genitopatellar syndrome (MONDO:MONDO:0011640)", "pathway": " (hsa:23522); (R-HSA-3214847)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10.1101/2023.09.13.557529;10497217;10786633;10821277;11157802;11237011;11965546;15271374;15302935;15313887;16387653;16959974;17081983;18381289;18623064;18794358;19187765;19608861;19664994;20018852;20068231;21209280;22077973;22265014;23186163;25418920;25576301;25645385;25755297;25772364;25880248;25892735;26375851;26811146;26992070;27846572;27862975;27920218;28218747;28314751;28832583;29242379;29393594;29508533;29557506;29632046;29769354;30315122;30410026;31217245;31844290;32157095;32265295;32357974;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34171305;35051231;35580925;36284347;36581221;36754959;37288707;37646730;37658610;39505971;9427644;9558366;9880483", "class_list": "", "function": "Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy., [RefSeq, PubMed]; Clinical heterogeneity of polish patients with KAT6B-related disorder., [RefSeq, PubMed]; ERalpha status of invasive ductal breast carcinoma as a result of regulatory interactions between lysine deacetylases KAT6A and KAT6B. Publication Status: Online-Only, [RefSeq, PubMed]; Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity., [UniProtKB, PubMed, PubMed, PubMed]; MORF and MOZ acetyltransferases target unmethylated CpG islands through the winged helix domain. Publication Status: Online-Only, [RefSeq, PubMed]; Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson., [RefSeq, PubMed]; Role in regulating interleukin-5 expression, [RefSeq, PubMed]; The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [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": 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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 67, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 6, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "O15087;Q86Y05;Q8WU81;Q9UKW2;Q9UKW3;Q9UKX0", "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": "2.3.1.80", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.80", "type": "external" } ], "go_molecular_function": "GO:0061733 protein-lysine-acetyltransferase activity;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0070776 MOZ/MORF histone acetyltransferase complex;GO:0000786 nucleosome", "go_biological_process": "GO:0050793 regulation of developmental process;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q8WYB5-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L273-1", "uniprot_id": [ { "id": "KCTD9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L273", "type": "external" } ], "mass": 42567.0, "length": 389, "protein_name": "BTB/POZ domain-containing protein KCTD9", "gene_name": "KCTD9", "organism": "Human", "refseq_name": "BTB/POZ domain-containing protein KCTD9", "refseq_ac": [ { "id": "NP_060104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060104", "type": "external" } ], "gene_names_uniprotkb": "KCTD9", "gene_names_refseq": "BTBD27; KCTD9", "protein_names_uniprotkb": "BTB/POZ domain-containing protein KCTD9", "protein_names_refseq": "BTB/POZ domain-containing protein KCTD9; potassium channel tetramerisation domain containing 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:54793)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "11237011;19032868;20112406;23186163;23376586;25418920;25576301;25645385;25880248;26154972;26334369;26811146;26929215;26992070;27600516;27846572;27862975;28218747;28514659;28832583;28834231;28904123;29242379;29393594;29485866;29493099;29557506;29632046;29786170;30315122;30779550;31092671;31154438;31217245;31844290;31848261;32157095;32265295;32357974;32387766;32488085;32938616;32983136;33537174;33592498;33912179;33936100;33968037;35051231;35580925;36010968", "class_list": "", "function": "Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex, which mediates the ubiquitination of target proteins, leading to their degradation by the proteasome., [UniProtKB, UniProtKB, UniProtKB]; The authors find that the KCTD proteins 5, 6, 9 and 17 bind to Cul3 with high affinity, while the KCTD proteins 1 and 16 do not have detectable binding., [RefSeq, PubMed]; The increased expression of potassium channel gene KCTD9 correlates with disease severity in patients with viral hepatitis B., [RefSeq, PubMed]; These results suggest the involvement of KCTD9 in NK cell activation and provide additional insight into a potential therapeutic target for molecular manipulation for hepatitis B virus-induced acute-on-chronic liver failure 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": 1, "reported_mutagensis": 1, "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": "Q6NUM8;Q9NXV4", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0097602 cullin family protein binding", "go_cellular_component": "", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0051260 protein homooligomerization;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q7L273-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8K9-1", "uniprot_id": [ { "id": "K1958_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8K9", "type": "external" } ], "mass": 79212.0, "length": 716, "protein_name": "Uncharacterized protein KIAA1958", "gene_name": "KIAA1958", "organism": "Human", "refseq_name": "uncharacterized protein KIAA1958 isoform a", "refseq_ac": [ { "id": "NP_001273965", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273965", "type": "external" } ], "gene_names_uniprotkb": "KIAA1958", "gene_names_refseq": "KIAA1958", "protein_names_uniprotkb": "Uncharacterized protein KIAA1958", "protein_names_refseq": "uncharacterized protein KIAA1958 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:158405)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "15302935;17081983;18691976;19664995;19690332;25505266;25576301;26992070;28218747;29242379;29437277;29557506;30315122;30379171;31844290;31848261;32157095;32938616;33912179;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": 5, "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": "B7ZKW6;Q2M336;Q5T252;Q8TF43;Q96N02", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q8N8K9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NAX2-1", "uniprot_id": [ { "id": "KDF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NAX2", "type": "external" } ], "mass": 43642.0, "length": 398, "protein_name": "Keratinocyte differentiation factor 1", "gene_name": "KDF1", "organism": "Human", "refseq_name": "keratinocyte differentiation factor 1", "refseq_ac": [ { "id": "NP_689578", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689578", "type": "external" } ], "gene_names_uniprotkb": "KDF1; C1orf172", "gene_names_refseq": "C1orf172; ECTD12; KDF1", "protein_names_uniprotkb": "Keratinocyte differentiation factor 1", "protein_names_refseq": "RP11-344H11.3; keratinocyte differentiation factor 1", "tax_id": 9606, "disease": "ectodermal dysplasia 12 (Disease Ontology:DOID:0111652)", "pathway": " (hsa:126695)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "16959974;27838789;29242379;31844290;33392160;35051231;35580925;36293320", "class_list": "", "function": "KDF1 Novel Variant Causes Unique Dental and Oral Epithelial Defects. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the regulation of the epidermis formation during early development. Required both as an inhibitor of basal cell proliferation and a promoter of differentiation of basal progenitor cell progeny (By similarity)., [UniProtKB, UniProtKB]; We describe a family with a novel, autosomal dominant form of ectodermal dysplasia that we suggest is the mild human equivalent of the shd mutant phenotype in mouse based on the finding of a novel KDF1 variant by positional mapping and exome sequencing., [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": 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": "Q5QP32;Q8N0S7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005938 cell cortex;GO:0030054 cell junction;GO:0031252 cell leading edge;GO:0070161 anchoring junction", "go_biological_process": "GO:0060887 limb epidermis development;GO:2000647 negative regulation of stem cell proliferation;GO:0061436 establishment of skin barrier;GO:0016331 morphogenesis of embryonic epithelium;GO:0003334 keratinocyte development", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NAX2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UMN6-1", "uniprot_id": [ { "id": "KMT2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UMN6", "type": "external" } ], "mass": 293515.0, "length": 2715, "protein_name": "Histone-lysine N-methyltransferase 2B", "gene_name": "KMT2B", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase 2B", "refseq_ac": [ { "id": "NP_055542", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055542", "type": "external" } ], "gene_names_uniprotkb": "KMT2B; HRX2; KIAA0304; MLL2; MLL4; TRX2; WBP7", "gene_names_refseq": "CXXC10; DYT28; HRX2; KMT2B; MLL1B; MLL2; MLL4; MRD68; TRX2; WBP-7; WBP7", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase 2B; 2.1.1.364; Lysine N-methyltransferase 2B; Myeloid/lymphoid or mixed-lineage leukemia protein 4; Trithorax homolog 2; WBP-7; WW domain-binding protein 7", "protein_names_refseq": "WW domain binding protein 7; histone-lysine N-methyltransferase 2B; histone-lysine N-methyltransferase MLL4; lysine (K)-specific methyltransferase 2B; mixed lineage leukemia gene homolog 2; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4; myeloid/lymphoid or mixed-lineage leukemia protein 4; trithorax homologue 2", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); dystonia 28, childhood-onset (Disease Ontology:DOID:0060936); autosomal dominant intellectual developmental disorder 68 (Disease Ontology:DOID:0061041); prostate cancer (Disease Ontology:DOID:10283); breast cancer (Disease Ontology:DOID:1612); congenital heart disease (Disease Ontology:DOID:1682); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:9757); (R-HSA-201722); (R-HSA-3214841); (R-HSA-3769402); (R-HSA-8936459); (R-HSA-9772755)", "pathway_count": 6, "publication_count": 272, "publication_id_list": "10080941;10409430;10485845;10549281;10617663;10637508;10769018;10775268;10831834;10898789;10921920;10944533;10949293;11050151;11080158;11136974;11237011;11532957;11691915;11713476;11934263;11955446;11959841;11973335;11988739;12123582;12130538;12163411;12393701;12408824;12408825;12453418;12482972;12483298;12540855;12576332;12670868;12712206;14536086;14600025;14636557;14685266;14690610;14695187;14992727;15060161;15121853;15132997;15145825;15199122;15235609;15294866;15302935;15327769;15525529;15768032;15829968;15964846;16005293;16118227;16169192;16199523;16227571;16239140;16292313;16510874;16519522;16628190;16630820;16682010;16756492;16805913;16829959;16878130;16892064;17021013;17052462;17081983;17218525;17355966;17412698;17425782;17428831;17458864;17500065;17544230;17612494;17671196;17698607;17707229;17825402;17875931;17925232;17998332;18160704;18172012;18316480;18347063;18378692;18404694;18452278;18456656;18498752;18573912;18598779;18598942;18669648;18819930;18829457;18829459;18838386;18838538;18840606;19047045;19103755;19114653;19124460;19148484;19187761;19364920;19413330;19460168;19487454;19493659;19509293;19556245;19571879;19590513;19651622;19664995;19690332;19691289;19808676;19928349;19940019;20018852;20068231;20339092;20575550;20716525;20876458;20961854;21106533;21124902;21129147;21131905;21131967;21135039;21196496;21220120;21252065;21406692;21654818;21725049;21726809;21779408;21832073;22099308;22186018;22190459;22266653;22304967;22327296;22617422;22652693;22665483;22777353;22939622;22982193;23186163;23481700;23508102;23995757;24081332;24244196;24275569;24291232;24368734;24680668;25561738;25576301;25593305;25645385;26010396;26324722;26886794;26992070;27563068;27698142;27760318;27839873;27920218;27992417;28182322;28228285;28398509;28832583;28834231;28904123;29138278;29242379;29276005;29276034;29393594;29508533;29557506;29632046;29632711;29786170;29897600;29937342;30315122;30379171;30410026;30429286;30503518;30524438;30779550;31154438;31400120;31485071;31544921;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33150406;33298915;33592498;33657400;33691108;33912179;33968037;34012049;34087483;34171305;34405274;34509645;34933446;35033534;35051231;35190547;35289036;35318648;35439434;35494241;35580925;36010968;36241641;36284347;37938771;38253038;38579707;38743022;40596516;8756721;8757136;8955148;9118222;9488439;9490669;9751710;9819412;9843967", "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) 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:17707229, PubMed:25561738). Likely plays a redundant role with KMT2C in enriching H3K4me1 marks on primed and active enhancer elements (PubMed:24081332). Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2 (PubMed:17707229). Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development (By similarity). Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; MLL4 binds TET3., [RefSeq, PubMed]; This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]., [RefSeq]; [Phenotypic and genotypic spectrum of KMT2B dystonia. Description of three Colombian patients]., [RefSeq, PubMed]", "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": 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": 31, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 104, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "O15022;O95836;Q96GP2;Q96IP3;Q9UK25;Q9Y668;Q9Y669", "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.-", "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": "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": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "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": "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" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042800 histone H3K4 methyltransferase activity;GO:0045322 unmethylated CpG binding;GO:0140945 histone H3K4 monomethyltransferase activity;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035097 histone methyltransferase complex;GO:0044665 MLL1/2 complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0032259 methylation;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 27.8, "record_id": "Q9UMN6-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12824-1", "uniprot_id": [ { "id": "SNF5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12824", "type": "external" } ], "mass": 44141.0, "length": 385, "protein_name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1", "gene_name": "SMARCB1", "organism": "Human", "refseq_name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 isoform b", "refseq_ac": [ { "id": "NP_001007469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007469", "type": "external" } ], "gene_names_uniprotkb": "SMARCB1; BAF47; INI1; SNF5L1", "gene_names_refseq": "BAF47; CSS3; INI-1; INI1; MRD15; PPP1R144; RDT; RTPS1; SMARCB1; SNF5L1; SNF5; SWNTS1; Sfh1p; Snr1; hSNFS", "protein_names_uniprotkb": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1; BAF47; BRG1-associated factor 47; Integrase interactor 1 protein; SNF5 homolog; hSNF5", "protein_names_refseq": "BRG1-associated factor 47; SNF5 homolog; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 isoform b; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1; SWI/SNF-related matrix-associated protein; hSNF5; integrase interactor 1 protein; malignant rhabdoid tumor suppressor; protein phosphatase 1, regulatory subunit 144; sucrose nonfermenting, yeast, homolog-like 1", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); Coffin-Siris syndrome 3 (Disease Ontology:DOID:0070045); schwannomatosis 1 (Disease Ontology:DOID:0070480); rhabdoid tumor predisposition syndrome (Disease Ontology:DOID:0070617); rhabdoid tumor predisposition syndrome 1 (Disease Ontology:DOID:0070618); sinonasal undifferentiated carcinoma (Disease Ontology:DOID:0080799); vestibular schwannomatosis (Disease Ontology:DOID:0111252); atypical teratoid rhabdoid tumor (Disease Ontology:DOID:2129); schwannomatosis (Disease Ontology:DOID:3204); meningioma (Disease Ontology:DOID:3565); rhabdoid cancer (Disease Ontology:DOID:3672); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); synovial sarcoma (Disease Ontology:DOID:5485); epithelioid sarcoma (Disease Ontology:DOID:6193); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:6598); (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": 167, "publication_id_list": "10078207;10208879;10319872;10365963;10490642;10587587;11237011;11341840;11448779;11532965;11747826;11751582;11756452;11856727;11964381;12016208;12062444;12226744;12368262;1321344;14604992;1537333;1537334;15485929;15543135;15640446;15695812;15729346;15899790;15985610;16265664;16267391;16303920;16314535;16917507;16959763;17182843;17215844;17357086;17498659;17525332;17640523;17898714;17952075;18072270;18079182;18404153;18477386;18483556;18695000;18697795;18765789;18809673;18812475;19234465;19389701;19717472;20111005;20460684;20506188;20951943;21316606;21774791;22231400;22325351;22368283;22426308;22464331;22645359;22726846;22952240;23481700;23644491;23785148;23906836;24267888;24874740;25418920;25469497;25576301;25880248;25892735;26073604;26154972;26365797;26375851;26601204;26694611;26992070;27600516;27846572;27920218;28218747;28228285;28510447;28533407;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29786170;29907796;30315122;30410026;30515787;30524438;30833945;31217245;31492838;31530632;31844290;31848261;31998317;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33100333;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34185709;34465901;35051231;35561310;35580127;36010968;36215666;36241641;36284347;37938771;38359823;38639853;39125735;39362842;40596516;7801128;7813420;8306979;8709224;8804307;8895581;8921401;9448295;9642256;9671307;9758418;9892189", "class_list": "", "function": "Central nervous system embryonal tumors with EWSR1-PLAGL1 rearrangements reclassified as INI-1 deficient tumors at relapse., [RefSeq, PubMed]; Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. 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). Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Lack of SMARCB1 expression characterizes a subset of human and murine peripheral T-cell lymphomas. Publication Status: Online-Only, [RefSeq, PubMed]; Squamous Cell Carcinoma in Never Smokers: An Insight into SMARCB1 Loss. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 15, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O75784;O95474;Q17S11;Q38GA1;Q76N08;Q9UBH2", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0042802 identical protein binding;GO:0030957 Tat protein binding;GO:0002039 p53 binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016514 SWI/SNF complex;GO:0071564 npBAF complex", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:1902661 positive regulation of glucose mediated signaling pathway;GO:0039692 single stranded viral RNA replication via double stranded DNA intermediate;GO:2000819 regulation of nucleotide-excision repair;GO:0006338 chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 17.0, "record_id": "Q12824-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWN8-1", "uniprot_id": [ { "id": "ARAP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWN8", "type": "external" } ], "mass": 169844.0, "length": 1544, "protein_name": "Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3", "gene_name": "ARAP3", "organism": "Human", "refseq_name": "arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3", "refseq_ac": [ { "id": "NP_071926", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071926", "type": "external" } ], "gene_names_uniprotkb": "ARAP3; CENTD3", "gene_names_refseq": "ARAP3; CENTD3; DRAG1", "protein_names_uniprotkb": "Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3; Centaurin-delta-3; Cnt-d3", "protein_names_refseq": "ARF-GAP, RHO-GAP, ankyrin repeat and plekstrin homology domains-containing protein 3; Arf and Rho GAP adapter protein 3; PtdIns(3,4,5)P3-binding protein; arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3; centaurin-delta-3; phosphoinositide binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:64411); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013423)", "pathway_count": 5, "publication_count": 346, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10619026;10699171;10699464;10724160;10873388;10873802;10958683;11007481;11058585;11085924;11149925;11207612;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11956649;11961559;12015138;12071859;12093360;12096337;12172552;12195014;12221077;12221096;12351724;12432077;12464619;12531887;12546821;12547822;12650940;12665586;12773384;12832619;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;15546919;15569923;15579468;15601624;15611138;15728722;15850391;15858067;15866170;15897194;16002401;16112081;16116428;16184169;16217026;16243036;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16959974;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17314030;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18669648;18697831;18786931;18829452;18835169;18838382;18929667;19269969;19494238;19534724;19605563;19635168;19651622;19673492;19713215;19765305;19934221;20030946;20058876;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21148482;21351730;21406692;21454492;21542010;21565175;21613211;21685891;21699497;21730051;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22673745;22734669;22911862;22970203;22992742;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24584464;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25704760;25721503;25795300;25862245;25963737;26129894;26154972;26299518;26371245;26529257;26598554;26628301;26887924;27096001;27117132;27145964;27216196;27311713;27481945;27555588;27566826;27600516;27713499;27798618;27806292;27846572;27986909;28028151;28112683;28114311;28196833;28356423;28411811;28510447;28584191;28825699;28860633;29089502;29146911;29358323;29382922;29393594;29557506;30061681;30853411;31105010;31844290;31871319;32157095;32203420;32387766;32488085;32938616;32983136;33592498;33968037;34171305;35051231;35580925;36284347;36674645;37938771;38734878;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;9252344;9268338;9305890;9405671;9418861;9438849;9490638;9497316;9535835;9548756;9582072;9659915;9670022;9792683;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "ARAP3 has a role in integrin-mediated tyrosine kinase signalling pathways controlling Rho GTPases and cell spreading, [RefSeq, PubMed]; ARAP3 protects from excessive formylated peptide-induced microvascular leakage by acting on endothelial cells and neutrophils., [RefSeq, PubMed]; Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency. Acts on ARF6, RAC1, RHOA and CDC42. Plays a role in the internalization of anthrax toxin., [UniProtKB, PubMed, PubMed]; Structural Basis for the Specific Recognition of RhoA by the Dual GTPase-activating Protein ARAP3., [RefSeq, PubMed]; Structural Insights Uncover the Specific Phosphoinositide Recognition by the PH1 Domain of Arap3. Publication Status: Online-Only, [RefSeq, PubMed]; The catalytic domain of ARF-GAP alone is sufficient to initiate uncoating of liposome-derived COPI-coated vesicles. ARF-GAP activity is not required for COPI coat assembly & does not seem to be an essential coat component of COPI vesicles., [RefSeq, PubMed]; This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2015]., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "reported_glycation": 0, "reported_snv": 30, "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": "B4DIT1;D3DQE3", "ec_number_list": [], "go_molecular_function": "GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0008270 zinc ion binding;GO:0043325 phosphatidylinositol-3,4-bisphosphate binding;GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0030027 lamellipodium;GO:0001726 ruffle", "go_biological_process": "GO:0007165 signal transduction;GO:0032956 regulation of actin cytoskeleton organization;GO:0007010 cytoskeleton organization;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 34.9, "record_id": "Q8WWN8-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07306-1", "uniprot_id": [ { "id": "ASGR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P07306", "type": "external" } ], "mass": 33186.0, "length": 291, "protein_name": "Asialoglycoprotein receptor 1", "gene_name": "ASGR1", "organism": "Human", "refseq_name": "asialoglycoprotein receptor 1 isoform b", "refseq_ac": [ { "id": "NP_001184145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184145", "type": "external" } ], "gene_names_uniprotkb": "ASGR1; CLEC4H1", "gene_names_refseq": "ASGPR1; ASGPR; ASGR1; CLEC4H1; HL-1", "protein_names_uniprotkb": "Asialoglycoprotein receptor 1; ASGP-R 1; ASGPR 1; C-type lectin domain family 4 member H1; HL-1; Hepatic lectin H1", "protein_names_refseq": "C-type lectin domain family 4 member H1; asialoglycoprotein receptor 1 isoform b; hepatic lectin H1", "tax_id": 9606, "disease": "", "pathway": " (hsa:432); (R-HSA-446203)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10891274;11237011;11470266;11543633;12089159;12171918;12678917;14514716;14688233;15489334;16317064;16625196;1774077;19159218;1924301;1935897;19835842;20798515;20886072;21063834;21269460;21472553;21656538;24112972;24275569;25485912;27155063;28230359;2834401;2982798;31811054;32157095;32296183;32679274;32983136;33344141;34837059;34903854;3753585;38355848;38459023;6156677;7072193;8943311", "class_list": "glycogene", "function": "(Microbial infection) Plays an essential role in ACE2-independent SARS-CoV-2 entry by acting as alternate receptor., [UniProtKB, PubMed]; Asialoglycoprotein receptor 1 promotes SARS-CoV-2 infection of human normal hepatocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Deficiency of ASGR1 promotes liver injury by increasing GP73-mediated hepatic endoplasmic reticulum stress. Publication Status: Online-Only, [RefSeq, PubMed]; Novel SARS-CoV-2 receptors: ASGR1 and KREMEN1., [RefSeq, PubMed]; This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the more abundant major subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]., [RefSeq]; Transmembrane protein predominantly expressed on hepatocytes that plays a key role in endocytosis of plasma glycoproteins that lack terminal sialic acid residues. Specifically recognizes terminal galactose and N-acetylgalactosamine residues, facilitating the clearance of desialylated glycoproteins from circulation. Plays thereby a role in a variety of physiological processes, such as removal of desialylated platelets, elimination of activated lymphocytes and maintenance of serum glycoprotein homeostasis (PubMed:25485912). Plays a role in the removal of desialylated platelets by activating a feedback loop regulating thrombopoietin (TPO) expression via the JAK2-STAT3 signaling pathway (PubMed:25485912). Contributes also to recognition and elimination of activated lymphocytes by hepatocytes that can act as cytotoxic effectors (PubMed:21656538). May also play a physiological role in the regulatory network of lipid homeostasis (By similarity). Upon ligand binding, the receptor-ligand complex is internalized and trafficked to a sorting organelle, where dissociation occurs. The receptor is then recycled back to the cell surface., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Two naturally occurring ASGPR1 splice variants are produced in human hepatocytes. 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": 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": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 409, "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": "I3L1X1", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0005537 D-mannose binding;GO:0042806 fucose binding;GO:0004873 asialoglycoprotein receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006955 immune response;GO:0006898 receptor-mediated endocytosis;GO:0006897 endocytosis", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "P07306-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR71-1", "uniprot_id": [ { "id": "ASAH2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR71", "type": "external" } ], "mass": 85516.0, "length": 780, "protein_name": "Neutral ceramidase", "gene_name": "ASAH2", "organism": "Human", "refseq_name": "neutral ceramidase isoform b", "refseq_ac": [ { "id": "NP_001137446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137446", "type": "external" } ], "gene_names_uniprotkb": "ASAH2; HNAC1", "gene_names_refseq": "ASAH2; BCDase; HNAC1; LCDase; N-CDase; NCDase", "protein_names_uniprotkb": "Neutral ceramidase; 3.5.1.-; 3.5.1.23; Acylsphingosine deacylase 2; BCDase; LCDase; N-CDase; N-acylsphingosine amidohydrolase 2; NCDase; Non-lysosomal ceramidase; hCD", "protein_names_refseq": "N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2; acylsphingosine deacylase 2; mitochondrial ceramidase; neutral ceramidase isoform b; neutral ceramidase; neutral/alkaline ceramidase; non-lysosomal ceramidase", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700)", "pathway": " (hsa:56624); (R-HSA-9840310)", "pathway_count": 2, "publication_count": 118, "publication_id_list": "10191093;10196694;10406958;10781606;10781797;10823942;10861246;10942779;10993717;11237011;11278489;11350180;11489889;11707436;11784319;12374214;12510003;12518053;12566438;12594539;12662933;12885774;12888274;12909021;1352293;1352993;14557071;15003450;15213228;15458386;15714521;15773042;15845354;15946935;16061940;16229686;16230343;1634229;16478472;16517606;16595074;16698036;1670590;1678251;17105727;1718266;1720305;17334805;1740330;17475390;1756715;1840600;18524657;1889421;1907800;1915858;19345744;19405096;19836391;2001789;20728381;235289;239890;24798654;2562955;26190575;2717620;28126847;28834231;29242379;29443946;29557506;2960521;2965147;29692406;2970528;2971395;29747811;2976757;29802621;3014515;30154232;30389354;3048308;3136930;31495489;3158659;33547170;33912179;3456607;35051231;35134389;35580925;36284347;39940;5135907;5164093;527942;5822067;7504405;7628016;7730378;7744740;7852280;8281145;8370580;8399327;8573994;8591035;8663398;8804427;8889578;8955159;8985184;9217013;9338580;9520418;9521684", "class_list": "glycogene", "function": "Asah2 Represses the p53-Hmox1 Axis to Protect Myeloid-Derived Suppressor Cells from Ferroptosis., [RefSeq, PubMed]; Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]., [RefSeq]; Measurement of neutral ceramidase activity in vitro and in vivo. Review article, [RefSeq, PubMed]; Neutral ceramidase is localized mainly in plasma membranes., [RefSeq, PubMed]; Neutral ceramidase: Advances in mechanisms, cell regulation, and roles in cancer. Review article, [RefSeq, PubMed]; Plasma membrane ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at neutral pH (PubMed:10781606, PubMed:16229686, PubMed:26190575). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:15946935, PubMed:19345744, PubMed:24798654). Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine (PubMed:11278489, PubMed:17475390). Together with sphingomyelinase, participates in the production of sphingosine and sphingosine-1-phosphate from the degradation of sphingomyelin, a sphingolipid enriched in the plasma membrane of cells (PubMed:16061940). Also participates in the hydrolysis of ceramides from the extracellular milieu allowing the production of sphingosine-1-phosphate inside and outside cells (By similarity). This is the case for instance with the digestion of dietary sphingolipids in the intestinal tract (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; The present study identified a novel amidase sequence containing a critical serine residue that may function as a nucleophile in the hydrolytic attack on the amide bond present in ceramide, [RefSeq, PubMed]; The purification and characterization of neutral ceramidase from human ileostomy content, using octanoyl-[(14)C]sphingosine as substrate, [RefSeq, PubMed]", "predicted_glycosites": 16, "predicted_n_glycosites": 3, "predicted_o_glycosites": 13, "predicted_c_glycosites": 0, "predicted_s_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": 18, "reported_glycation": 0, "reported_snv": 827, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "Q3KNU1;Q5SNT7;Q5SZP6;Q5SZP7;Q5T1D5;Q71ME6", "ec_number_list": [ { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.60", "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" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0017040 N-acylsphingosine amidohydrolase activity;GO:0005509 calcium ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005739 mitochondrion;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0006670 sphingosine metabolic process;GO:0046513 ceramide biosynthetic process;GO:0006915 apoptotic process;GO:0046512 sphingosine biosynthetic process;GO:0046514 ceramide catabolic process", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "Q9NR71-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000011000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00471-1", "uniprot_id": [ { "id": "EXOC5_HUMAN", "url": "https://www.uniprot.org/uniprot/O00471", "type": "external" } ], "mass": 81853.0, "length": 708, "protein_name": "Exocyst complex component 5", "gene_name": "EXOC5", "organism": "Human", "refseq_name": "exocyst complex component 5", "refseq_ac": [ { "id": "NP_006535", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006535", "type": "external" } ], "gene_names_uniprotkb": "EXOC5; SEC10L1; SEC10", "gene_names_refseq": "EXOC5; HSEC10; PRO1912; SEC10L1; SEC10P; SEC10", "protein_names_uniprotkb": "Exocyst complex component 5; Exocyst complex component Sec10; hSec10", "protein_names_refseq": "SEC10-like 1; exocyst complex component 5; exocyst complex component Sec10", "tax_id": 9606, "disease": "obstructive nephropathy (Disease Ontology:DOID:0070314); bicuspid aortic valve disease (Disease Ontology:DOID:0080332)", "pathway": " (hsa:10640); (R-HSA-1445148); (R-HSA-264876); (R-HSA-5620916)", "pathway_count": 4, "publication_count": 160, "publication_id_list": "10521251;11237011;11462236;11493706;11707400;11904301;12221131;14617756;14704853;15158452;1528899;15331542;15728366;15878854;15919790;15971998;16038802;16136078;16155582;16158220;16158222;16407158;16431365;16537653;16714477;16782012;16880201;16984975;17007872;17030804;17369524;17574030;17628206;17646400;17956946;17995453;18491316;18685082;18691976;18756269;19013499;19017632;19153612;19252894;19297529;19454479;20083215;20308425;20308558;20631154;20701589;20837646;20937701;21091435;21145486;21273506;21308844;21454505;21454690;21550243;21565611;21713314;21775626;21907143;22389062;22420621;22433857;22983554;23186163;23351793;23481700;23567335;23945166;24296415;24714562;24715725;25091901;2550440;25576301;25892735;26154972;2669954;26728094;26992070;27920218;2822027;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30192525;30315122;30379171;30484775;30833945;31154438;31184304;31217245;31530632;31694916;31844290;31848261;31937595;31998317;32157095;32161166;32387766;32488085;32502341;32723473;32897882;32938616;32983136;33141586;33298915;33485965;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;36581221;37938771;3896518;7626024;8094051;8664345;8916141;9119050;9166668;9207799;9631292;9819391", "class_list": "", "function": "Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane., [UniProtKB]; The EXOC5 knockdown increases ARF6 levels and decreases EPS8L2 levels, and that EXOC5 overexpression increases EPS8L2., [RefSeq, PubMed]; The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [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": 6, "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": "B2R6C5;Q8IW24", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030496 midbody;GO:0000145 exocyst", "go_biological_process": "GO:0015031 protein transport;GO:0072659 protein localization to plasma membrane;GO:0001822 kidney development;GO:0000281 mitotic cytokinesis;GO:0006892 post-Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "O00471-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q93034-1", "uniprot_id": [ { "id": "CUL5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q93034", "type": "external" } ], "mass": 90955.0, "length": 780, "protein_name": "Cullin-5", "gene_name": "CUL5", "organism": "Human", "refseq_name": "cullin-5", "refseq_ac": [ { "id": "NP_003469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003469", "type": "external" } ], "gene_names_uniprotkb": "CUL5; VACM1", "gene_names_refseq": "CUL-5; CUL5; VACM-1; VACM1", "protein_names_uniprotkb": "Cullin-5; CUL-5; VACM-1; Vasopressin-activated calcium-mobilizing receptor 1", "protein_names_refseq": "Cullin-5 (vasopressin-activated calcium-mobilizing receptor-1); Vasopressin-activated calcium-mobilizing receptor-1; cullin-5; vasopressin-activated calcium-mobilizing receptor 1", "tax_id": 9606, "disease": "aortic dissection (Disease Ontology:DOID:0080685); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:8065); (R-HSA-180585); (R-HSA-8863795); (R-HSA-8951664); (R-HSA-9705462); (R-HSA-983168); (R-HSA-9833109)", "pathway_count": 7, "publication_count": 235, "publication_id_list": "10.1038/emboj.2013.79;10230407;10535940;10597293;10811609;10878807;10898738;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11384984;11454738;11585840;11733065;11961546;12101228;12133942;12186903;12239347;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14512302;14528300;14564014;14660651;14690597;14734113;14757770;15107455;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601820;15601839;15652483;15688063;15694336;15781449;15799966;16125763;16127453;16150497;16171779;16325183;16401342;16497976;16547496;16595681;16636053;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17251292;17332328;17363902;17392790;17497243;17785452;18093314;18206966;18562529;18662542;18669648;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19193793;19250909;19321346;19352404;19452197;19453968;19489725;19562805;19617556;19748355;19851334;19874575;19920177;19933325;19940261;20068231;20532212;21119685;21199876;21376233;21447816;21463634;21632562;21697472;21778237;21863050;21940857;21980433;22190037;22306028;22383950;22466964;22537386;2261476;22959436;23186163;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23584533;23897481;23912815;23986495;24076655;24337577;24366543;24402281;24636985;24793695;24793696;25081058;25314029;25349211;25355947;25505247;25531226;25880248;26041281;26344709;26460955;26598620;26632597;26906416;27030794;27222660;27565346;27846572;27910872;27920218;28115426;28218747;28292928;28514659;28832583;28834231;28904123;29153394;29242379;29393594;29437277;29493099;29557506;29769354;29786170;30379171;30558248;30610225;30779550;31217245;31387940;31844290;32005965;32157095;32200094;32284348;32350084;32357974;32513959;32938616;33268465;33298915;33392160;33444648;33592498;33912179;33968037;33981976;33999101;34019948;34185709;34357683;34518685;35051231;35293963;35486881;35494241;35512830;35580925;35633597;36241641;37217939;37640699;38418882;40440427;40963025;7541030;7542744;9037604;9380723;9461599;9668046;9790970;9885206;9887101;9891082", "class_list": "", "function": "(Microbial infection) Following infection by HIV-1 virus, CUL5 associates with HIV-1 Vif proteins and forms a cullin-5-RING E3 ubiquitin-protein ligase complex (ECS complex) that catalyzes ubiquitination and degradation of APOBEC3F and APOBEC3G (PubMed:16636053, PubMed:22190037). The complex can also ubiquitinate APOBEC3H to some extent (PubMed:37640699)., [UniProtKB, PubMed, PubMed, PubMed]; (Microbial infection) Seems to be involved in proteasomal degradation of p53/TP53 stimulated by adenovirus E1B-55 kDa protein., [UniProtKB, PubMed]; Core component of multiple cullin-5-RING E3 ubiquitin-protein ligase complexes (ECS complexes, also named CRL5 complexes), which mediate the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:11384984, PubMed:15601820, PubMed:21199876, PubMed:21980433, PubMed:23897481, PubMed:25505247, PubMed:27910872, PubMed:32200094, PubMed:33268465, PubMed:35512830, PubMed:38418882, PubMed:40963025). Acts a scaffold protein that contributes to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme (PubMed:11384984, PubMed:15601820, PubMed:33268465). The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable SOCS box-containing substrate recognition component (PubMed:11384984, PubMed:15601820, PubMed:33268465). Acts as a key regulator of neuron positioning during cortex development: component of various SOCS-containing ECS complexes, such as the ECS(SOCS7) complex, that regulate reelin signaling by mediating ubiquitination and degradation of DAB1 (By similarity). ECS(SOCS1) seems to direct ubiquitination of JAK2 (PubMed:11384984). The ECS(SOCS2) complex mediates the ubiquitination and subsequent proteasomal degradation of phosphorylated EPOR and GHR (PubMed:21980433, PubMed:25505247). The ECS(SPSB3) complex catalyzes ubiquitination of nuclear CGAS (PubMed:38418882). ECS(KLHDC1) complex is part of the DesCEND (destruction via C-end degrons) pathway and mediates ubiquitination and degradation of truncated SELENOS selenoprotein produced by failed UGA/Sec decoding, which ends with a glycine (PubMed:32200094). The ECS(ASB9) complex mediates ubiquitination and degradation of CKB (PubMed:33268465). As part of some ECS complex, promotes 'Lys-11'-linked ubiquitination and degradation of BTRC (PubMed:27910872). As part of a multisubunit ECS complex, polyubiquitinates monoubiquitinated POLR2A (PubMed:19920177). As part of the ECS(RAB40C) complex, mediates ANKRD28 ubiquitination and degradation, thereby inhibiting protein phosphatase 6 (PP6) complex activity and focal adhesion assembly during cell migration (PubMed:35512830). As part of the ECS(RAB40A) complex, mediates RHOU 'Lys-48'-linked ubiquitination and degradation, thus inhibiting focal adhesion disassembly during cell migration (PubMed:26598620). As part of the ECS(RAB40B) complex, mediates LIMA1/EPLIN and RAP2 ubiquitination, thereby regulating actin cytoskeleton dynamics and stress fiber formation during cell migration (PubMed:33999101, PubMed:35293963). The ECS(ASB7) complex acts a negative regulator of H3K9me3 histone mark by mediating ubiquitination and degradation of SUV39H1 (PubMed:40440427). As part of the ECS(LRRC58) complex, mediates CDO1 ubiquitination and degradation, regulating cysteine catabolism (PubMed:40963025). May form a cell surface vasopressin receptor (PubMed:9037604)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 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": 6, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 5, "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": "A8K960;O14766;Q9BZC6", "ec_number_list": [], "go_molecular_function": "GO:0005262 calcium channel activity;GO:0031625 ubiquitin protein ligase binding;GO:0004842 ubiquitin-protein transferase activity;GO:0038023 signaling receptor activity;GO:0160072 ubiquitin ligase complex scaffold activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex;GO:0031466 Cul5-RING ubiquitin ligase complex", "go_biological_process": "GO:0016477 cell migration;GO:0030335 positive regulation of cell migration;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0000082 G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 24.0, "record_id": "Q93034-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13616-1", "uniprot_id": [ { "id": "CUL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13616", "type": "external" } ], "mass": 89679.0, "length": 776, "protein_name": "Cullin-1", "gene_name": "CUL1", "organism": "Human", "refseq_name": "cullin-1", "refseq_ac": [ { "id": "NP_003583", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003583", "type": "external" } ], "gene_names_uniprotkb": "CUL1", "gene_names_refseq": "CUL1", "protein_names_uniprotkb": "Cullin-1; CUL-1", "protein_names_refseq": "CUL-1; cullin-1", "tax_id": 9606, "disease": "X-linked Emery-Dreifuss muscular dystrophy 1 (Disease Ontology:DOID:0070246); Emery-Dreifuss muscular dystrophy (Disease Ontology:DOID:11726); dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:8454); (R-HSA-1169091); (R-HSA-1170546); (R-HSA-174113); (R-HSA-187577); (R-HSA-195253); (R-HSA-202424); (R-HSA-2122947); (R-HSA-2565942); (R-HSA-2644606); (R-HSA-2644607); (R-HSA-2871837); (R-HSA-2894862); (R-HSA-5607761); (R-HSA-5607764); (R-HSA-5610780); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5676590); (R-HSA-5684264); (R-HSA-68949); (R-HSA-69231); (R-HSA-69601); (R-HSA-8854050); (R-HSA-8939902); (R-HSA-8951664); (R-HSA-9020702); (R-HSA-917937); (R-HSA-9604323); (R-HSA-9708530); (R-HSA-9725371); (R-HSA-9762114); (R-HSA-983168); (R-HSA-9929356); (R-HSA-9932298)", "pathway_count": 35, "publication_count": 708, "publication_id_list": 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"class_list": "", "function": "CircCUL1 inhibits trophoblast cell migration and invasion and promotes cell autophagy by sponging hsa-miR-30e-3p in fetal growth restriction via the ANXA1/PI3K/AKT axis., [RefSeq, PubMed]; Core component of multiple cullin-RING-based SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. SCF complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins (PubMed:22017875, PubMed:22017877, PubMed:27565346). In the SCF complex, serves as a rigid scaffold that organizes the SKP1-F-box protein and RBX1 subunits. May contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme (PubMed:38326650). The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and exchange of the substrate recognition component is mediated by TIP120A/CAND1 (PubMed:12609982, PubMed:38326650). The functional specificity of the SCF complex depends on the F-box protein as substrate recognition component (PubMed:38326650). SCF(BTRC) and SCF(FBXW11) direct ubiquitination of CTNNB1 and participate in Wnt signaling. SCF(FBXW11) directs ubiquitination of phosphorylated NFKBIA. SCF(BTRC) directs ubiquitination of NFKBIB, NFKBIE, ATF4, SMAD3, SMAD4, CDC25A, FBXO5 and probably NFKB2. SCF(BTRC) and/or SCF(FBXW11) direct ubiquitination of CEP68 (PubMed:25503564, PubMed:25704143). SCF(SKP2) directs ubiquitination of phosphorylated CDKN1B/p27kip and is involved in regulation of G1/S transition. SCF(SKP2) directs ubiquitination of ORC1, CDT1, RBL2, ELF4, CDKN1A, RAG2, FOXO1A, and probably MYC and TAL1. SCF(FBXW7) directs ubiquitination of CCNE1, NOTCH1 released notch intracellular domain (NICD), and probably PSEN1. SCF(FBXW2) directs ubiquitination of GCM1. SCF(FBXO32) directs ubiquitination of MYOD1. SCF(FBXO7) directs ubiquitination of BIRC2 and DLGAP5. SCF(FBXO33) directs ubiquitination of YBX1. SCF(FBXO1) directs ubiquitination of BCL6 and DTL but does not seem to direct ubiquitination of TP53. SCF(BTRC) mediates the ubiquitination of NFKBIA at 'Lys-21' and 'Lys-22'; the degradation frees the associated NFKB1-RELA dimer to translocate into the nucleus and to activate transcription. SCF(CCNF) directs ubiquitination of CCP110. SCF(FBXL3) and SCF(FBXL21) direct ubiquitination of CRY1 and CRY2. SCF(FBXO9) directs ubiquitination of TTI1 and TELO2. SCF(FBXO10) directs ubiquitination of BCL2. Neddylated CUL1-RBX1 ubiquitinates p53/TP53 recruited by Cul7-RING(FBXW8) complex (PubMed:35982156). SCF(BTRC) directs 'Lys-48'-linked ubiquitination of UBR2 in the T-cell receptor signaling pathway (PubMed:38225265). The SCF(FBXO31) protein ligase complex specifically mediates the ubiquitination of proteins amidated at their C-terminus in response to oxidative stress (PubMed:39880951)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; NNMT/1-MNA Promote Cell-Cycle Progression of Breast Cancer by Targeting UBC12/Cullin-1-Mediated Degradation of P27 Proteins., [RefSeq, PubMed]; The membrane-associated ubiquitin ligase MARCHF8 stabilizes the human papillomavirus oncoprotein E7 by degrading CUL1 and UBE2L3 in head and neck 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": 2, "reported_mutagensis": 1, "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": "D3DWG3;O60719;Q08AL6;Q8IYW1", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0160072 ubiquitin ligase complex scaffold activity", "go_cellular_component": "GO:1990452 Parkin-FBXW7-Cul1 ubiquitin ligase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0010824 regulation of centrosome duplication;GO:2000001 regulation of DNA damage checkpoint;GO:0006355 regulation of DNA-templated transcription;GO:0006879 intracellular iron ion homeostasis;GO:0007346 regulation of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 71.1, "record_id": "Q13616-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50502-1", "uniprot_id": [ { "id": "F10A1_HUMAN", "url": "https://www.uniprot.org/uniprot/P50502", "type": "external" } ], "mass": 41332.0, "length": 369, "protein_name": "Hsc70-interacting protein", "gene_name": "ST13", "organism": "Human", "refseq_name": "hsc70-interacting protein isoform 1", "refseq_ac": [ { "id": "NP_003923", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003923", "type": "external" } ], "gene_names_uniprotkb": "ST13; AAG2; FAM10A1; HIP; SNC6", "gene_names_refseq": "AAG2; FAM10A1; FAM10A4; HIP; HOP; HSPABP1; HSPABP; P48; PRO0786; SNC6; ST13", "protein_names_uniprotkb": "Hsc70-interacting protein; Aging-associated protein 2; Hip; Progesterone receptor-associated p48 protein; Protein FAM10A1; Putative tumor suppressor ST13; Renal carcinoma antigen NY-REN-33; Suppression of tumorigenicity 13 protein", "protein_names_refseq": "Hsp70-interacting protein; aging-associated protein 2; heat shock 70kD protein binding protein; hsc70-interacting protein isoform 1; hsc70-interacting protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; renal carcinoma antigen NY-REN-33; suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein); suppression of tumorigenicity 13 protein; testis secretory sperm-binding protein Li 233m", "tax_id": 9606, "disease": "", "pathway": " (hsa:6767); (R-HSA-3371453)", "pathway_count": 2, "publication_count": 122, "publication_id_list": "10508479;10954706;11237011;11747420;12853476;12917326;12974469;15364926;15802566;1586970;16278218;17081983;17287340;1754405;18088087;18235501;18235502;18452278;18477386;18510355;18550409;18669648;18707149;18767875;19229036;19413330;19531498;19651622;19664994;19914676;20068231;20166139;21728385;22465953;22541429;22735644;22940245;23349863;24715725;25502872;25576301;25616159;26154972;26811146;26853435;26992070;27452731;27600516;27846572;27920218;28467828;28510447;28514659;28832583;28904123;29242379;29331515;29493099;29557506;29632711;29786170;29789417;30192525;30429286;30484775;30779550;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32162841;32350084;32387766;32488085;32502341;32791689;32897882;32938616;32983136;33043033;33214551;33298915;33392160;33465208;33592498;33717175;33912179;33936100;33968037;34019948;34078123;34357683;34433824;34932366;35051231;35138101;35154160;35251023;35318648;35561310;35580925;36241641;36284347;37938771;38253038;38492099;38665916;40596516;7585962;8721986;8946918;9292708;9305631;9387309;9873016;9920933", "class_list": "", "function": "A novel susceptibility gene, ST13, coding for a cochaperone of the glucocorticoid receptor, is associated with exacerbations in asthmatic children and young adults despite their ICS use., [RefSeq, PubMed]; An autophagy-related model of 4 key genes for predicting prognosis of patients with laryngeal cancer., [RefSeq, PubMed]; One HIP oligomer binds the ATPase domains of at least two HSC70 molecules dependent on activation of the HSC70 ATPase by HSP40. Stabilizes the ADP state of HSC70 that has a high affinity for substrate protein. Through its own chaperone activity, it may contribute to the interaction of HSC70 with various target proteins (By similarity)., [UniProtKB]; Polymorphism in Genes Encoding Adaptor Proteins ST13 and STIP1 and the Risk of Ischemic Stroke: a Pilot Study., [RefSeq, PubMed]; The protein encoded by this gene is an adaptor protein that mediates the association of the heat shock proteins HSP70 and HSP90. This protein has been shown to be involved in the assembly process of glucocorticoid receptor, which requires the assistance of multiple molecular chaperones. The expression of this gene is reported to be downregulated in colorectal carcinoma tissue suggesting that it is a candidate tumor suppressor gene. 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": 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": 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": "O14999;Q2TU77", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0046983 protein dimerization activity;GO:0030544 Hsp70 protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "P50502-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3LI72-1", "uniprot_id": [ { "id": "KR195_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3LI72", "type": "external" } ], "mass": 7624.0, "length": 72, "protein_name": "Keratin-associated protein 19-5", "gene_name": "KRTAP19-5", "organism": "Human", "refseq_name": "keratin-associated protein 19-5", "refseq_ac": [ { "id": "NP_853642", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_853642", "type": "external" } ], "gene_names_uniprotkb": "KRTAP19-5; KAP19.5", "gene_names_refseq": "KAP19.5; KRTAP19-5", "protein_names_uniprotkb": "Keratin-associated protein 19-5", "protein_names_refseq": "keratin-associated protein 19-5", "tax_id": 9606, "disease": "", "pathway": " (hsa:337972); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A4IF22", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q3LI72-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H492-1", "uniprot_id": [ { "id": "MLP3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H492", "type": "external" } ], "mass": 14272.0, "length": 121, "protein_name": "Microtubule-associated protein 1 light chain 3 alpha", "gene_name": "MAP1LC3A", "organism": "Human", "refseq_name": "microtubule-associated protein 1 light chain 3 alpha isoform a", "refseq_ac": [ { "id": "NP_115903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115903", "type": "external" } ], "gene_names_uniprotkb": "MAP1LC3A", "gene_names_refseq": "ATG8E; LC3A; LC3; MAP1ALC3; MAP1BLC3; MAP1LC3A", "protein_names_uniprotkb": "Microtubule-associated protein 1 light chain 3 alpha; Autophagy-related protein LC3 A; Autophagy-related ubiquitin-like modifier LC3 A; MAP1 light chain 3-like protein 1; MAP1A/MAP1B LC3 A; MAP1A/MAP1B light chain 3 A; Microtubule-associated proteins 1A/1B light chain 3A", "protein_names_refseq": "MAP1 light chain 3-like protein 1; MAP1A/1B light chain 3 A; MAP1A/MAP1B LC3 A; MAP1A/MAP1B light chain 3 A; autophagy-related ubiquitin-like modifier LC3 A; microtubule-associated protein 1 light chain 3 alpha isoform a; microtubule-associated proteins 1A/1B light chain 3A", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); glaucoma (Disease Ontology:DOID:1686); transient cerebral ischemia (Disease Ontology:DOID:224); glioblastoma (Disease Ontology:DOID:3068); ischemia (Disease Ontology:DOID:326); liver cirrhosis (Disease Ontology:DOID:5082); retinal detachment (Disease Ontology:DOID:5327); myocardial infarction (Disease Ontology:DOID:5844); degenerative disc disease (Disease Ontology:DOID:90); type 2 diabetes mellitus (Disease Ontology:DOID:9352); acute myocardial infarction (Disease Ontology:DOID:9408)", "pathway": " (hsa:84557); (R-HSA-1632852); (R-HSA-5205685); (R-HSA-8934903)", "pathway_count": 4, "publication_count": 93, "publication_id_list": "11096062;11825910;12740394;15187094;16963840;17580304;17618624;18321988;18439900;19056683;19211835;19322194;19432818;19590496;19855179;19898463;20059746;20126261;20529957;20712405;20713597;20713600;20921139;21115803;21177865;21194381;21205641;21258367;21383122;21460621;21617041;21819378;22170151;22267086;22354992;22421968;22470510;22682742;23043107;23112293;23202584;23459205;23685627;23727157;23884233;24067654;24290141;24660806;24671035;24746696;24747438;24751536;24784582;24954904;25127057;25474007;25484072;25527497;25544559;25568151;25996575;26040720;26116755;26347139;26365381;27035970;27247382;28085066;29242379;29394115;29420192;29995846;30429286;30661429;31006537;31006538;31722778;31848261;32157095;32296703;32350084;32686895;33783314;33909989;34338405;34854256;36010968;37443287;37948986;38287189;38953845;39284914;7628435", "class_list": "", "function": "MAP1A and MAP1B are microtubule-associated proteins which mediate the physical interactions between microtubules and components of the cytoskeleton. MAP1A and MAP1B each consist of a heavy chain subunit and multiple light chain subunits. The protein encoded by this gene is one of the light chain subunits and can associate with either MAP1A or MAP1B. Two transcript variants encoding different isoforms have been found for this gene. The expression of variant 1 is suppressed in many tumor cell lines, suggesting that may be involved in carcinogenesis. [provided by RefSeq, Feb 2012]., [RefSeq]; Synovial fluid exosome-derived miR-182-5p alleviates osteoarthritis by downregulating TNFAIP8 and promoting autophagy through LC3 signaling., [RefSeq, PubMed]; The Role of LC3-Associated Phagocytosis Inhibits the Inflammatory Response in Aspergillus fumigatus Keratitis., [RefSeq, PubMed]; Ubiquitin-like modifier involved in formation of autophagosomal vacuoles (autophagosomes) (PubMed:20713600, PubMed:24290141). 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:20713600). 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)., [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": 6, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 12, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E1P5P4;E1P5P5;Q9BXW5", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0008017 microtubule binding;GO:0031625 ubiquitin protein ligase binding;GO:0008429 phosphatidylethanolamine binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000421 autophagosome membrane;GO:0005829 cytosol;GO:0005874 microtubule;GO:0005770 late endosome", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0000045 autophagosome assembly;GO:0010288 response to lead ion;GO:0007254 JNK cascade;GO:0016236 macroautophagy", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q9H492-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14669-1", "uniprot_id": [ { "id": "TRIPC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14669", "type": "external" } ], "mass": 228484.0, "length": 2067, "protein_name": "E3 ubiquitin-protein ligase TRIP12", "gene_name": "TRIP12", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIP12 isoform a", "refseq_ac": [ { "id": "NP_001271143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271143", "type": "external" } ], "gene_names_uniprotkb": "TRIP12; KIAA0045; ULF", "gene_names_refseq": "MRD49; TRIP-12; TRIP12; TRIPC; ULF", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIP12; 2.3.2.26; E3 ubiquitin-protein ligase for Arf; HECT-type E3 ubiquitin transferase TRIP12; TR-interacting protein 12; TRIP-12; Thyroid receptor-interacting protein 12; ULF", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIP12 isoform a; E3 ubiquitin-protein ligase for Arf; HECT-type E3 ubiquitin transferase TRIP12; TR-interacting protein 12; probable E3 ubiquitin-protein ligase TRIP12; thyroid receptor interacting protein 12", "tax_id": 9606, "disease": "Clark-Baraitser syndrome (Disease Ontology:DOID:0080234); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:9320); (R-HSA-983168)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10.1101/2023.09.13.557529;11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;17081983;18220336;18627766;18662542;18669648;19028597;19028681;19352404;19452197;19489725;19690332;19851334;19874575;19940261;20068231;20208519;20829358;21406692;22561347;2261476;22884692;23186163;24275569;27848077;28251352;30982744;35051231;36639831;36747006;37108203;38924548;40419785;7776974;9380723;9668046", "class_list": "", "function": "Analysis of Ku70 S155 Phospho-Specific BioID2 Interactome Identifies Ku Association with TRIP12 in Response to DNA Damage. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin-protein ligase involved in ubiquitin fusion degradation (UFD) pathway and regulation of DNA repair. Part of the ubiquitin fusion degradation (UFD) pathway, a process that mediates ubiquitination of protein at their N-terminus, regardless of the presence of lysine residues in target proteins., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Small molecule Z363 co-regulates TAF10 and MYC via the E3 ligase TRIP12 to suppress tumour growth., [RefSeq, PubMed]; TRIP12 promotes degradation of APP-BP1 by catalyzing its ubiquitination, which in turn modulates the neddylation pathway., [RefSeq, PubMed]; The E3 ubiquitin ligase TRIP12 is required for pancreatic acinar cell plasticity and pancreatic carcinogenesis., [RefSeq, PubMed]; The HECT domain of TRIP12 ubiquitinates substrates of the ubiquitin fusion degradation pathway., [RefSeq, PubMed]; The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant., [RefSeq, PubMed]; The protein encoded by this gene is an E3 ubiquitin-protein ligase involved in the degradation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protein also plays a role in the DNA damage response by regulating the stability of USP7, which regulates tumor suppressor p53. [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": 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": 36, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A6Q8PHK0;D4HL82;Q14CA3;Q14CF1;Q15644;Q53R87;Q53TE7", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0061630 ubiquitin protein ligase activity;GO:0046966 nuclear thyroid hormone receptor binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0006281 DNA repair;GO:0006974 DNA damage response;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q14669-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92832-1", "uniprot_id": [ { "id": "NELL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92832", "type": "external" } ], "mass": 89635.0, "length": 810, "protein_name": "Protein kinase C-binding protein NELL1", "gene_name": "NELL1", "organism": "Human", "refseq_name": "protein kinase C-binding protein NELL1 isoform 3 precursor", "refseq_ac": [ { "id": "NP_001275642", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275642", "type": "external" } ], "gene_names_uniprotkb": "NELL1; NRP1", "gene_names_refseq": "IDH3GL; NELL1", "protein_names_uniprotkb": "Protein kinase C-binding protein NELL1; NEL-like protein 1; Nel-related protein 1", "protein_names_refseq": "neural epidermal growth factor-like 1; protein kinase C-binding protein NELL1 isoform 3 precursor; protein kinase C-binding protein NELL1", "tax_id": 9606, "disease": "craniosynostosis (Disease Ontology:DOID:2340)", "pathway": " (hsa:4745)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16959974;21723284;29557506;32198364;35700263;35940226;36175952;37157070;38665916;39255297;8975702", "class_list": "", "function": "Conformational Change of the Hairpin-like-structured Robo2 Ectodomain Allows NELL1/2 Binding., [RefSeq, PubMed]; NELL1 Regulates the Matrisome to Promote Osteosarcoma Progression., [RefSeq, PubMed]; Neural EGFL like 1 as a novel gene for Trabecular Bone Score in older adults: The Bushehr Elderly Health (BEH) program. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the control of cell growth and differentiation. Promotes osteoblast cell differentiation and terminal mineralization., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Runx2 and Nell-1 in dental follicle progenitor cells regulate bone remodeling and tooth eruption. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]., [RefSeq]; [Clinical Significance of Thrombospondin Type 1 Domain-Containing 7A and Neural Epidermal Growth Factor-Like 1 Protein in M-Type Phospholipase A2 Receptor-Negative Membranous Nephropathy]., [RefSeq, PubMed]", "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": 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": 0, "reported_glycation": 0, "reported_snv": 90, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "B2CKC1;Q4VB90;Q4VB91;Q6NSY8;Q9Y472", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0005080 protein kinase C binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0048471 perinuclear region of cytoplasm;GO:0005576 extracellular region", "go_biological_process": "GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0030501 positive regulation of bone mineralization;GO:0045669 positive regulation of osteoblast differentiation;GO:0042177 negative regulation of protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q92832-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12774-1", "uniprot_id": [ { "id": "ARHG5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12774", "type": "external" } ], "mass": 176799.0, "length": 1597, "protein_name": "Rho guanine nucleotide exchange factor 5", "gene_name": "ARHGEF5", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 5", "refseq_ac": [ { "id": "NP_005426", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005426", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF5; TIM", "gene_names_refseq": "ARHGEF5; GEF5; P60; TIM1; TIM", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 5; Ephexin-3; Guanine nucleotide regulatory protein TIM; Oncogene TIM; Transforming immortalized mammary oncogene; p60 TIM", "protein_names_refseq": "Rho guanine nucleotide exchange factor (GEF) 5; ephexin-3; ephexin3; guanine nucleotide regulatory protein TIM; oncogene TIM; p60 TIM; rho guanine nucleotide exchange factor 5; transforming immortalized mammary oncogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:7984); (R-HSA-193648); (R-HSA-416482); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013408)", "pathway_count": 9, "publication_count": 396, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10652265;10699171;10699464;10724160;10873388;10873802;10958683;11007481;11058585;11085924;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;11864571;11884391;11912491;11948177;11961559;11967128;12071859;12093360;12096337;12097334;12101119;12123608;12172552;12177196;12195014;12221077;12221096;12351724;12376551;12432077;12433842;12464619;12473120;12515866;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14662653;14673001;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15470142;15485661;15507211;15579468;15601624;15611138;15699075;15728722;15749160;15848799;15850391;15858067;15866170;15897194;15944396;15951569;15951850;16002401;16112081;16116428;16184169;16212495;16217026;16243036;16339170;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16923326;16964243;16968698;17027967;17064668;17077126;17145773;17196961;17198702;17214551;17244649;17389395;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18218625;18249095;18347018;18363964;18374420;18396277;18426980;18577758;18653540;18669648;18691976;18786931;18802007;18829452;18835169;18838382;18929667;19212140;19269969;19494238;19581409;19605563;19635168;19664995;19673492;19713215;19934221;20030946;20068231;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21148482;21351730;21373644;21454492;21542010;21565175;21576392;21613211;21621533;21685891;21699497;21730051;21757538;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22661716;22673745;22734669;22790947;22911862;22970203;22992742;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23707487;23718289;23870313;23940355;24086303;24128008;24129315;24259668;24275569;24335996;24352656;24584464;24659802;24715725;24859002;24933155;24960694;24996924;25024229;25211221;25414122;25425145;25428919;25576301;25673874;25704760;25721503;25795300;25862245;25911094;25963737;26129894;26299518;26371245;26529257;26598554;26887924;27072905;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27846572;27920218;27986909;28028151;28112683;28114311;28196833;28218747;28584191;28825699;28860633;29089502;29146911;29242379;29358323;29382922;29437277;29493099;29786170;30007591;30059200;30061681;30853411;31105010;31611695;31871319;32157095;32203420;32574038;32938616;33141586;33298915;33537174;33912179;33936100;33968037;33981976;34087483;35051231;35580925;36215666;36241641;36284347;37515282;7476457;7479768;7512369;7559638;7673236;7721814;7753201;7835339;7937899;8021274;8107774;8134109;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;9308960;9405671;9418861;9438849;9490638;9497316;9520479;9535835;9548756;9582072;9659915;9670022;9792683;9796816;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "Guanine nucleotide exchange factor which activates Rho GTPases (PubMed:15601624). Strongly activates RHOA (PubMed:15601624). Also strongly activates RHOB, weakly activates RHOC and RHOG and shows no effect on RHOD, RHOV, RHOQ or RAC1 (By similarity). Involved in regulation of cell shape and actin cytoskeletal organization (PubMed:15601624). Plays a role in actin organization by generating a loss of actin stress fibers and the formation of membrane ruffles and filopodia (PubMed:14662653). Required for SRC-induced podosome formation (By similarity). Involved in positive regulation of immature dendritic cell migration (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Interaction between hTIM-1 and Envelope Protein Is Important for JEV Infection. Publication Status: Online-Only, [RefSeq, PubMed]; Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [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": 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": 19, "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": 5, "binding_glycan_count": 0, "secondary_ac_list": "A6NNJ2;Q6ZML7", "ec_number_list": [], "go_molecular_function": "GO:0005525 GTP binding;GO:0008289 lipid binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0032956 regulation of actin cytoskeleton organization;GO:0035556 intracellular signal transduction;GO:0043087 regulation of GTPase activity;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0035025 positive regulation of Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 40.1, "record_id": "Q12774-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43683-1", "uniprot_id": [ { "id": "BUB1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43683", "type": "external" } ], "mass": 122375.0, "length": 1085, "protein_name": "Mitotic checkpoint serine/threonine-protein kinase BUB1", "gene_name": "BUB1", "organism": "Human", "refseq_name": "mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 3", "refseq_ac": [ { "id": "NP_001265546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265546", "type": "external" } ], "gene_names_uniprotkb": "BUB1; BUB1L", "gene_names_refseq": "BUB1A; BUB1L; BUB1; MCPH30; hBUB1", "protein_names_uniprotkb": "Mitotic checkpoint serine/threonine-protein kinase BUB1; 2.7.11.1; BUB1A; hBUB1", "protein_names_refseq": "BUB1 budding uninhibited by benzimidazoles 1 homolog; mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 3; mitotic spindle checkpoint kinase; putative serine/threonine-protein kinase", "tax_id": 9606, "disease": "primary autosomal recessive microcephaly 30 (Disease Ontology:DOID:0051041); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:699); (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": 211, "publication_id_list": "10198256;10366450;10411507;10600384;10678165;10958683;11081627;11181178;11237011;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12655561;12679384;12732141;12805219;12852857;14730319;15006353;15020684;15085137;15339662;15507212;15525512;15723797;15737063;15864301;15866170;15944396;16292343;16439214;16541025;16622419;16622420;16682347;16760428;16890222;16943183;17030981;17112726;17113138;17129783;17158872;17196341;17198702;17322306;17344846;1737036;17525332;17981135;18001770;18097444;18669648;18691976;18716626;18922873;18923426;18991276;19007248;19350017;19369195;19413330;19487456;19651622;19690332;19691289;19696148;19815554;19965387;20030946;20068231;20101212;20112406;20591975;20739936;21111234;21148482;21397845;21406692;21576392;21868368;21878504;21987589;22071147;22094460;22099307;22275430;22608513;22790947;22885700;23186163;23222643;23481700;23801653;24366607;24714562;24715725;24914801;25418920;25502872;25576301;25645385;25740311;25789526;26154972;26223641;26375851;26399325;26658523;26728094;26912231;26992070;27600516;27846572;27893789;27920218;28072388;28218747;28228285;28446606;28510447;28514659;28604727;28832583;28834231;28904123;29242379;29331515;29371260;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30379171;30410026;30484775;30524438;30779550;30833945;31154438;31217245;31409757;31530632;31844290;31848261;31937595;31998317;32143140;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34013668;34087483;34171305;34185709;34211107;34260926;34357683;34405274;34509645;34932366;35044816;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;39025206;39048649;39232038;39302247;39531497;9441741;9521327;9649308;9649503;9660858;9790499;9892021", "class_list": "", "function": "BUB1 induces AKT/mTOR pathway activity to promote EMT induction in human small cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; BUB1 potentiates gastric cancer proliferation and metastasis by activating TRAF6/NF-kappaB/FGF18 through m6A modification., [RefSeq, PubMed]; Correlation of BUB1 and BUB1B with the development and prognosis of endometrial cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine-protein kinase that performs 2 crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling and for correct chromosome alignment. Has a key role in the assembly of checkpoint proteins at the kinetochore, being required for the subsequent localization of CENPF, BUB1B, CENPE and MAD2L1. Required for the kinetochore localization of PLK1. Required for centromeric enrichment of AUKRB in prometaphase. Plays an important role in defining SGO1 localization and thereby affects sister chromatid cohesion. Promotes the centromeric localization of TOP2A (PubMed:35044816). Acts as a substrate for anaphase-promoting complex or cyclosome (APC/C) in complex with its activator CDH1 (APC/C-Cdh1). Necessary for ensuring proper chromosome segregation and binding to BUB3 is essential for this function. Can regulate chromosome segregation in a kinetochore-independent manner. Can phosphorylate BUB3. The BUB1-BUB3 complex plays a role in the inhibition of APC/C when spindle-assembly checkpoint is activated and inhibits the ubiquitin ligase activity of APC/C by phosphorylating its activator CDC20. This complex can also phosphorylate MAD1L1. Kinase activity is essential for inhibition of APC/CCDC20 and for chromosome alignment but does not play a major role in the spindle-assembly checkpoint activity. Mediates cell death in response to chromosome missegregation and acts to suppress spontaneous tumorigenesis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a serine/threonine-protein kinase that play a central role in mitosis. The encoded protein functions in part by phosphorylating members of the mitotic checkpoint complex and activating the spindle checkpoint. This protein also plays a role in inhibiting the activation of the anaphase promoting complex/cyclosome. This protein may also function in the DNA damage response. Mutations in this gene have been associated with aneuploidy and several forms of cancer. Alternate splicing 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": 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": 33, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 32, "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": "E9PC26;F5GXI5;O43430;O43643;O60626;Q53QE4", "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": "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:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity;GO:0140995 histone H2A kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0000776 kinetochore", "go_biological_process": "GO:0007059 chromosome segregation;GO:0051301 cell division;GO:0006915 apoptotic process;GO:0051754 meiotic sister chromatid cohesion, centromeric;GO:0007094 mitotic spindle assembly checkpoint signaling", "synthesized_glycan_count": 0, "hit_score": 21.5, "record_id": "O43683-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5FYB1-1", "uniprot_id": [ { "id": "ARSI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5FYB1", "type": "external" } ], "mass": 64030.0, "length": 569, "protein_name": "Arylsulfatase I", "gene_name": "ARSI", "organism": "Human", "refseq_name": "arylsulfatase I precursor", "refseq_ac": [ { "id": "NP_001012301", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012301", "type": "external" } ], "gene_names_uniprotkb": "ARSI", "gene_names_refseq": "ARSI; ASI; SPG66", "protein_names_uniprotkb": "Arylsulfatase I; 3.1.6.-; ASI", "protein_names_refseq": "arylsulfatase I precursor; arylsulfatase I", "tax_id": 9606, "disease": "", "pathway": " (hsa:340075); (R-HSA-1663150); (R-HSA-9840310)", "pathway_count": 3, "publication_count": 112, "publication_id_list": "10191093;10196694;10406958;10781797;10823942;10861246;10942779;10993717;11237011;11350180;11489889;11707436;11784319;12374214;12510003;12518053;12566438;12594539;12662933;12757705;12757706;12885774;12888274;12909021;1352293;1352993;14563551;15003450;15213228;15458386;15657036;15708861;15714521;15773042;15845354;15962010;16174644;16229686;16230343;1634229;16368756;16478472;16500042;16517606;16595074;16698036;1670590;1678251;17105727;1718266;1720305;1740330;1756715;1840600;18524657;1889421;1907800;1915858;19262745;19405096;19836391;2001789;20728381;235289;239890;24482476;2562955;2717620;28126847;29443946;2960521;2965147;29692406;2970528;2971395;29747811;2976757;29802621;3014515;3048308;3136930;31495489;3158659;34171305;3456607;35051231;39940;5135907;5164093;527942;5822067;7504405;7628016;7730378;7744740;7852280;8281145;8370580;8399327;8573994;8591035;8663398;8681943;8804427;8889578;8955159;8985184;9217013;9338580;9520418;9521684;9699462", "class_list": "glycogene", "function": "Displays arylsulfatase activity at neutral pH, when co-expressed with SUMF1; arylsulfatase activity is measured in the secretion medium of retinal cell line, but no activity is recorded when measured in cell extracts (PubMed:19262745). Lacks arylsulfatase activity (PubMed:16500042)., [UniProtKB, PubMed, PubMed]; No mutation was found in the ARSI gene locus of the retinitis pigmentosa patients examined., [RefSeq, PubMed]; The identification, molecular cloning and initial characterization of three new members of this human gene family is reported., [RefSeq, PubMed]; This gene encodes a protein that belongs to a large family of sulfatases that hydrolyze sulfate esters and sulfamates. Members of this family play a role in several cellular processes, including hormone synthesis, cell signaling in development and degradation of macromolecules. The protein encoded by this gene is thought to be secreted, and to function in extracellular space. [provided by RefSeq, Jul 2016]., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 779, "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": "A1L3B0;B3KV22;B7XD03", "ec_number_list": [ { "id": "3.1.6.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.2", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.1.6.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.-", "type": "external" }, { "id": "3.1.6.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.1", "type": "external" }, { "id": "3.1.6.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.18", "type": "external" }, { "id": "1.8.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.7", "type": "external" }, { "id": "3.1.6.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.15", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004065 arylsulfatase activity;GO:0008484 sulfuric ester hydrolase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q5FYB1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H672-1", "uniprot_id": [ { "id": "ASB7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H672", "type": "external" } ], "mass": 36011.0, "length": 318, "protein_name": "Ankyrin repeat and SOCS box protein 7", "gene_name": "ASB7", "organism": "Human", "refseq_name": "ankyrin repeat and SOCS box protein 7 isoform 1", "refseq_ac": [ { "id": "NP_078984", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078984", "type": "external" } ], "gene_names_uniprotkb": "ASB7", "gene_names_refseq": "ASB7", "protein_names_uniprotkb": "Ankyrin repeat and SOCS box protein 7; ASB-7", "protein_names_refseq": "ASB-7; ankyrin repeat and SOCS box protein 7 isoform 1; ankyrin repeat and SOCS box protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:140460); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 163, "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;15601839;15652483;15688063;15694336;15799966;16171779;16325183;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25418920;25531226;25892735;26344709;26375851;26460955;26632597;26906416;27030794;27222660;27565346;27697924;27846572;27862975;28115426;28228285;28832583;28904123;29153394;29242379;29493099;29557506;30410026;30429286;30524438;30610225;31154438;31217245;31844290;32005965;32157095;32284348;32357974;32387766;32938616;32983136;33298915;33444648;33592498;33912179;33968037;34171305;34509645;35051231;36010968;39039081;40440427;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "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 LZTS1, PSRC1 and SUV39H1 (PubMed:16325183, PubMed:27697924, PubMed:39039081, PubMed:40440427). The ECS(ASB7) complex acts as a negative regulator of H3K9me3 histone mark by mediating ubiquitination and degradation of SUV39H1: ASB7 is recruited to heterochromatin by CBX5 (HP1 alpha), where it associates with SUV39H1, promoting the ubiquitin-proteasome-mediated degradation of SUV39H1 (PubMed:40440427). During mitosis, ASB7 is phosphorylated and inactivated, allowing SUV39H1 activity (PubMed:40440427). The ECS(ASB7) complex also plays a role in spindle dynamics and genome integrity by targeting the mitotic progression protein PSRC1 for proteasomal degradation in a cell cycle-dependent manner (PubMed:27697924). Also participates in meiosis by mediating the proper attachment between kinetochores and microtubules (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 20, "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": "A8K1E5;Q6GSJ6;Q7Z4S3", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0031466 Cul5-RING ubiquitin ligase complex;GO:0000792 heterochromatin", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0120261 regulation of heterochromatin organization", "synthesized_glycan_count": 0, "hit_score": 16.4, "record_id": "Q9H672-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61158-1", "uniprot_id": [ { "id": "ARP3_HUMAN", "url": "https://www.uniprot.org/uniprot/P61158", "type": "external" } ], "mass": 47371.0, "length": 418, "protein_name": "Actin-related protein 3", "gene_name": "ACTR3", "organism": "Human", "refseq_name": "actin-related protein 3 isoform 1", "refseq_ac": [ { "id": "NP_005712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005712", "type": "external" } ], "gene_names_uniprotkb": "ACTR3; ARP3", "gene_names_refseq": "ACTR3; ARP3", "protein_names_uniprotkb": "Actin-related protein 3; Actin-like protein 3", "protein_names_refseq": "ARP3 actin related protein 3 homolog; actin-like protein 3; actin-related protein 3 isoform 1", "tax_id": 9606, "disease": "colorectal carcinoma (Disease Ontology:DOID:0080199); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); opisthorchiasis (Disease Ontology:DOID:13768); glioblastoma (Disease Ontology:DOID:3068); gallbladder carcinoma (Disease Ontology:DOID:4948); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:10096); (R-HSA-2029482); (R-HSA-3928662); (R-HSA-5663213); (R-HSA-8856828); (R-HSA-9664422)", "pathway_count": 6, "publication_count": 299, "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;11741539;11747816;11804587;11829459;11854399;11875071;11877457;11877461;11889126;12055636;12057195;12105426;12189515;12213210;12213833;12235133;12447393;12546821;12702722;12743368;12847086;12952949;1314888;14555962;14581451;14617351;14622578;14622579;14676198;14988728;15004565;15040784;15252009;15260957;15318165;15339664;15378065;15452139;15502812;15502813;15548136;15592455;15649145;15657136;15703209;15721239;15802264;15895077;15916959;16103228;16215232;16262445;16298995;16326391;16410077;16516836;16546099;16641196;16702231;16707488;16767080;16798879;16880396;16880808;16903783;17018281;17035995;17158794;17188549;17202194;17220302;17308335;17440041;17494869;17512409;17540576;17548511;17609109;17681954;17762867;17765681;17978091;18070890;18083107;18093523;18388313;18391171;1847920;18614018;18790740;18981233;18991276;19092055;19109554;19287005;19296720;19458185;19536138;19553453;19575674;19603039;19608861;19696796;19713939;19741094;19776351;19809571;19955216;20033059;20059951;20068231;20112406;20211604;20231386;20393563;20428113;20448150;20826345;20946875;21037092;2115402;21187331;21278753;21316588;21419341;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;21993680;2201922;22099461;22233676;22484487;22505844;22815487;22863004;23297414;23536704;23675550;23823722;23861397;23891661;24130457;24186068;24366607;24581490;24715725;2474607;24789820;24966051;25107275;25303366;25341920;25502872;25880248;26042225;26154972;26403691;26811146;26853435;26992070;27846572;27862975;28467828;28514659;28832583;28904123;29058690;29242379;29437277;29493099;29557506;29925947;30315122;30410026;30429286;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32169900;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34211107;34229054;34357683;34405274;34509645;34561969;34725712;35051231;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36241641;36284347;37162507;37549294;37938771;38665916;38987572;39990658;40914422;6146630;7478585;7848918;7877694;8524399;8552632;8809042;8986718;9000076;9092476;9100026;9230079;9427626;9428629;9600938;9635431;9705280;9736607;9799231;9843499;9883880;9885284", "class_list": "", "function": "ARPC5 isoforms and their regulation by calcium-calmodulin-N-WASP drive distinct Arp2/3-dependent actin remodeling events in CD4 T cells. Publication Status: Online-Only, [RefSeq, PubMed]; ATP-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9000076). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9000076). Seems to contact the pointed end of the daughter actin filament (PubMed:9000076). In podocytes, required for the formation of lamellipodia downstream of AVIL and PLCE1 regulation (PubMed:29058690). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:17220302, PubMed:29925947). The Arp2/3 complex 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). Plays a role in ciliogenesis (PubMed:20393563)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; LINC01133 promotes pancreatic ductal adenocarcinoma epithelial-mesenchymal transition mediated by SPP1 through binding to Arp3. Publication Status: Online-Only, [RefSeq, PubMed]; Proline-rich 11 (PRR11) drives F-actin assembly by recruiting the actin-related protein 2/3 complex in human non-small cell lung carcinoma., [RefSeq, PubMed]; The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]., [RefSeq]; Transition State of Arp2/3 Complex Activation by Actin-Bound Dimeric Nucleation-Promoting Factor., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P32391;Q53QM2", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005200 structural constituent of cytoskeleton;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005903 brush border;GO:0005911 cell-cell junction", "go_biological_process": "GO:0070358 actin polymerization-dependent cell motility;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0060271 cilium assembly;GO:0034314 Arp2/3 complex-mediated actin nucleation;GO:0010592 positive regulation of lamellipodium assembly", "synthesized_glycan_count": 0, "hit_score": 30.2, "record_id": "P61158-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DE5-1", "uniprot_id": [ { "id": "APC16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DE5", "type": "external" } ], "mass": 11667.0, "length": 110, "protein_name": "Anaphase-promoting complex subunit 16", "gene_name": "ANAPC16", "organism": "Human", "refseq_name": "anaphase-promoting complex subunit 16 isoform 1", "refseq_ac": [ { "id": "NP_001229475", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229475", "type": "external" } ], "gene_names_uniprotkb": "ANAPC16; C10orf104; CENP-27", "gene_names_refseq": "ANAPC16; APC16; C10orf104; CENP-27; MSAG; bA570G20.3", "protein_names_uniprotkb": "Anaphase-promoting complex subunit 16; APC16; Cyclosome subunit 16", "protein_names_refseq": "anaphase-promoting complex subunit 16 isoform 1; centromere protein 27; cyclosome subunit 16; metabolic syndrome-associated protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:119504); (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)", "pathway_count": 18, "publication_count": 140, "publication_id_list": "10201372;10318916;10339564;10411507;10432220;10548110;10679238;10733526;10793135;10884341;10995389;11046155;11081627;11114305;11125146;11237011;11248027;11285280;11340163;11371342;11509732;11535616;11562349;11598127;11742988;11859075;11988738;12006501;12070128;12194817;12446569;12832467;14657031;14672932;14679213;14743218;15014503;15029244;15469821;15678131;15737063;15774718;16413484;16626623;16648845;16824194;17187060;17234884;17485488;18267069;18411265;18485873;18555777;18555778;19232044;19805069;19896182;20028861;20351173;20360068;20452968;20813266;21325273;21670496;2183031;21979375;22084091;22178396;22634325;22885700;23481700;23603117;23846687;23851460;2405250;24706756;24715725;25043029;25231993;25418920;25490258;25576301;26083744;26154972;26222030;26375851;26992070;27120157;27249176;27397612;27509861;27600516;27846572;28832583;28904123;29033132;29242379;29393594;29493099;29508533;29557506;29632711;29769354;30315122;30429286;30485802;31844290;31848261;31998317;32157095;32387766;32488085;32502341;32897882;32983136;33123756;33141586;33298915;33691108;33717175;33912179;33936100;33968037;34211107;34509645;35051231;35318648;35580925;36284347;37938771;8234276;8384717;8413215;8413306;8617720;8688489;8884985;8939459;9635433;9892021", "class_list": "", "function": "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]; The contribution of the anaphase-promoting complex/cyclosome subunits APC7 and APC16 to APC/C composition and function in human cells., [RefSeq, PubMed]; The predicted protein encoded by MSAG contains 110 amino acids and has a theoretical molecular weight of 11667.04 and an isoelectric point of 4.91 (MSAG)., [RefSeq, PubMed]; The structures show how one APC16 binds asymmetrically to the symmetric APC3 dimer and, together with biochemistry and prior data, explain how APC16 recruits APC7 to APC3., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000776 kinetochore;GO:0005680 anaphase-promoting complex", "go_biological_process": "GO:0051301 cell division;GO:0007346 regulation of mitotic cell cycle;GO:0016567 protein ubiquitination;GO:0031145 anaphase-promoting complex-dependent catabolic process;GO:0070979 protein K11-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "Q96DE5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99856-1", "uniprot_id": [ { "id": "ARI3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99856", "type": "external" } ], "mass": 62889.0, "length": 593, "protein_name": "AT-rich interactive domain-containing protein 3A", "gene_name": "ARID3A", "organism": "Human", "refseq_name": "AT-rich interactive domain-containing protein 3A", "refseq_ac": [ { "id": "NP_005215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005215", "type": "external" } ], "gene_names_uniprotkb": "ARID3A; DRIL1; DRIL3; DRX; E2FBP1", "gene_names_refseq": "ARID3A; BRIGHT; DRIL1; DRIL3; E2FBP1", "protein_names_uniprotkb": "AT-rich interactive domain-containing protein 3A; ARID domain-containing protein 3A; B-cell regulator of IgH transcription; Bright; Dead ringer-like protein 1; E2F-binding protein 1", "protein_names_refseq": "ARID domain-containing 3A; ARID domain-containing protein 3A; AT rich interactive domain 3A (BRIGHT- like) protein; AT rich interactive domain 3A (BRIGHT-like); AT-rich interactive domain-containing protein 3A; B-cell regulator of IgH transcription; E2F-binding protein 1; dead ringer-like 1; dead ringer-like protein 1", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); Loeys-Dietz syndrome 6 (Disease Ontology:DOID:0060964); endometrial cancer (Disease Ontology:DOID:1380); pancreatic cancer (Disease Ontology:DOID:1793); colon cancer (Disease Ontology:DOID:219); ovarian cancer (Disease Ontology:DOID:2394); breast carcinoma (Disease Ontology:DOID:3459); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); Lynch syndrome (Disease Ontology:DOID:3883); ovarian carcinoma (Disease Ontology:DOID:4001); cervical cancer (Disease Ontology:DOID:4362); renal cell carcinoma (Disease Ontology:DOID:4450); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:1820); (R-HSA-6804116)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10891498;11237011;11782012;11812999;12193717;12692263;14580351;14633988;15133492;15302935;15722552;16738337;17081983;17400556;17719541;18194653;18202719;18669648;19413330;19651622;19664994;19690332;20455271;20817677;21406692;22172947;22802528;22802529;23064264;23186163;23481700;24714562;24715725;25218447;25505266;25576301;25645385;25755297;25892735;26154972;26728094;26992070;27452520;27846572;27920218;28446606;28832583;28904123;29242379;29485866;29508533;29557506;29632711;29769354;29786170;29789417;30192525;30315122;30620550;31217245;31844290;32157095;32350084;32387766;32502341;32938616;32938750;32983136;33123756;33141586;33298915;33392160;33717175;33936100;34019948;34087483;34171305;34211107;34357683;34433824;35051231;35132862;35154160;35251023;35254053;35257428;35318648;35513511;35580925;35705054;36008383;36010968;36301368;36977669;37340703;37541260;38036008;39302247;39531497;39534244;40307207;40914422;8242752;9722953;9780002", "class_list": "", "function": "A regulatory variant at 19p13.3 is associated with primary biliary cholangitis risk and ARID3A expression. Publication Status: Online-Only, [RefSeq, PubMed]; ARID3A promotes the chemosensitivity of colon cancer by inhibiting AKR1C3., [RefSeq, PubMed]; ARID3A variant and the risk of primary biliary cholangitis in a Central European cohort., [RefSeq, PubMed]; Hepatic ARID3A facilitates liver cancer malignancy by cooperating with CEP131 to regulate an embryonic stem cell-like gene signature. Publication Status: Online-Only, [RefSeq, PubMed]; Results show that DRIL1 disrupts cellular protection against RAS(V12)-induced proliferation downstream of the p19(ARF)/p53 pathway., [RefSeq, PubMed]; Several genetic variants associated with systemic sclerosis in a Chinese Han population., [RefSeq, PubMed]; This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor which may be involved in the control of cell cycle progression by the RB1/E2F1 pathway and in B-cell differentiation., [UniProtKB, PubMed, PubMed]; Transcription factor., [UniProtKB, UniProtKB]; Variations in Bright binding and matrix attachment region activity contribute to localized control of accessibility and therefore nonrandom gene use during V(D)J recombination., [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": 8, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 14, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q5I858;Q6P9C6;Q8IZA7;Q8N4Z3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0042802 identical protein binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0045121 membrane raft", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q99856-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PE2-1", "uniprot_id": [ { "id": "ARHGH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PE2", "type": "external" } ], "mass": 221673.0, "length": 2063, "protein_name": "Rho guanine nucleotide exchange factor 17", "gene_name": "ARHGEF17", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 17", "refseq_ac": [ { "id": "NP_055601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055601", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF17; KIAA0337; TEM4", "gene_names_refseq": "ARHGEF17; P164RHOGEF; RHOGEF17; TEM4; p164-RhoGEF", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 17; 164 kDa Rho-specific guanine-nucleotide exchange factor; Tumor endothelial marker 4; p164-RhoGEF; p164RhoGEF", "protein_names_refseq": "164 kDa Rho-specific guanine-nucleotide exchange factor; Rho guanine nucleotide exchange factor (GEF) 17; Rho-specific guanine-nucleotide exchange factor 164 kDa; rho guanine nucleotide exchange factor 17; tumor endothelial marker 4", "tax_id": 9606, "disease": "intracranial aneurysm (Disease Ontology:DOID:10941)", "pathway": " (hsa:9828); (R-HSA-193648); (R-HSA-416482); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106)", "pathway_count": 6, "publication_count": 235, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;11058585;11085924;11207612;11237011;11283606;11294240;11313914;11373293;11396949;11431473;11432776;11559528;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;15023524;15064355;15107133;15302923;15342493;15470142;15485661;15601624;15611138;15699075;15749160;15850391;15866170;15944396;15951850;16112081;16116428;16184169;16212495;16217026;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16923326;17077126;17198702;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18212344;18218625;18374420;18577758;18669648;18802007;18829452;19212140;19494238;19605563;19615748;19635168;19673492;19691289;19713215;20030946;20068231;20101212;20400958;20591975;20628200;20660154;21148482;21351730;21373644;21454492;21565175;21576392;21699497;21757538;21865595;21936715;22028470;22096251;22298643;22305756;22661716;22673745;22790947;22911862;22992742;23186163;23200924;23255595;23434736;23481700;23572525;23870313;24086303;24128008;24259668;24275569;24335996;24352656;24933155;25211221;25414122;25425145;25576301;25673874;25704760;25880248;26371245;26529257;26887924;26992070;27072905;27145964;27216196;27481945;27600516;27846572;27986909;28112683;28196833;28584191;29146911;29393594;29557506;29786170;29789417;29997225;30007591;30410026;30429286;31105010;31217245;31844290;31871319;32157095;32203420;32387766;32488085;32938616;33298915;33392160;33592498;33801779;33912179;33968037;33981976;35051231;35580925;36241641;36284347;37938771;38253038;38665916;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", "class_list": "", "function": "A Rho-specific GEF with novel structural and regulatory properties and predominant expression in the heart, [RefSeq, PubMed]; Acts as a guanine nucleotide exchange factor (GEF) for RhoA GTPases., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Results provide compelling evidence that ARHGEF17 is a risk gene for Intracranial aneurysm., [RefSeq, PubMed]; RhoGEF17-An Essential Regulator of Endothelial Cell Death and Growth. Publication Status: Online-Only, [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": 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": 30, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "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": "B2RP20;Q86XU2;Q8N2S0;Q9Y4G3", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 24.0, "record_id": "Q96PE2-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5FYA8-1", "uniprot_id": [ { "id": "ARSH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5FYA8", "type": "external" } ], "mass": 63525.0, "length": 562, "protein_name": "Arylsulfatase H", "gene_name": "ARSH", "organism": "Human", "refseq_name": "arylsulfatase H", "refseq_ac": [ { "id": "NP_001011719", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011719", "type": "external" } ], "gene_names_uniprotkb": "ARSH", "gene_names_refseq": "ARSH; sulfatase", "protein_names_uniprotkb": "Arylsulfatase H; 3.1.6.-; ASH", "protein_names_refseq": "ASH; arylsulfatase H", "tax_id": 9606, "disease": "", "pathway": " (hsa:347527); (R-HSA-1663150); (R-HSA-9840310)", "pathway_count": 3, "publication_count": 108, "publication_id_list": "10.1101/2023.09.13.557529;10191093;10196694;10406958;10781797;10823942;10861246;10942779;10993717;11350180;11489889;11707436;11784319;12374214;12510003;12518053;12566438;12594539;12662933;12757705;12757706;12885774;12888274;12909021;1352293;1352993;14563551;15003450;15213228;15458386;15657036;15708861;15714521;15773042;15845354;15962010;16174644;16229686;16230343;1634229;16368756;16478472;16517606;16595074;16698036;1670590;1678251;17105727;1718266;1720305;1740330;1756715;1840600;18524657;1889421;1907800;1915858;19405096;19836391;2001789;20728381;235289;239890;2562955;2717620;28126847;29443946;2960521;2965147;29692406;2970528;2971395;29747811;2976757;29802621;3014515;3048308;3136930;31495489;3158659;3456607;35051231;39940;5135907;5164093;527942;5822067;7504405;7628016;7730378;7744740;7852280;8281145;8370580;8399327;8573994;8591035;8663398;8681943;8804427;8889578;8955159;8985184;9217013;9338580;9520418;9521684;9699462", "class_list": "glycogene", "function": "Sulfatases, such as ARSH, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[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": 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": 601, "reported_interactions": 0, "missing_score": 9820, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.1.6.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.2", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.1.6.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.-", "type": "external" }, { "id": "3.1.6.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.1", "type": "external" }, { "id": "3.1.6.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.18", "type": "external" }, { "id": "1.8.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.7", "type": "external" }, { "id": "3.1.6.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.15", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004065 arylsulfatase activity", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q5FYA8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000001000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T4W7-1", "uniprot_id": [ { "id": "ARTN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T4W7", "type": "external" } ], "mass": 22878.0, "length": 220, "protein_name": "Artemin", "gene_name": "ARTN", "organism": "Human", "refseq_name": "artemin isoform 3", "refseq_ac": [ { "id": "NP_001129687", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129687", "type": "external" } ], "gene_names_uniprotkb": "ARTN; EVN", "gene_names_refseq": "ARTN; ART; ENOVIN; EVN; NBN", "protein_names_uniprotkb": "Artemin; Enovin; Neublastin", "protein_names_refseq": "artemin isoform 3; neublastin", "tax_id": 9606, "disease": "acoustic neuroma (Disease Ontology:DOID:12689); pancreatic cancer (Disease Ontology:DOID:1793); peripheral nervous system disease (Disease Ontology:DOID:574)", "pathway": " (hsa:9048); (R-HSA-419037); (R-HSA-5673001); (R-HSA-8853659)", "pathway_count": 4, "publication_count": 109, "publication_id_list": "10.1038/emboj.2013.79;10448070;10508167;10583383;10673327;10869344;10995764;11000521;11002419;11027663;11090077;11136978;11237011;11237712;11313946;11360177;11390647;11470823;11491658;11546808;11702783;11886862;12032311;12094235;12121613;12242309;12765789;12771945;14506247;14707138;14766744;15044950;15204970;15286081;15356145;1545823;15546878;15569713;15829225;16267048;16627759;16684964;16734417;16765900;1716764;17998941;18059411;18452278;18775330;1898771;19279408;19920141;20478380;21102635;21372320;21779497;21779505;21993244;22569528;22589270;22750304;23103841;23303910;23443682;23575685;23584533;24897931;24937142;25219551;25781681;26085527;2809592;28778966;30524438;31135801;31535977;31582733;32673279;33236361;33968037;36215666;6148751;7665556;7809086;7935463;7972015;8052307;8262246;8394845;8493579;8628282;8631863;8637703;8662982;8663426;8665852;8674117;8710374;8939933;9047384;9192684;9299438;9398268;9407096;9491986;9604935;9764818;9883723;9927426", "class_list": "", "function": "Anti-amyloidogenic effect of artemin on alpha-synuclein., [RefSeq, PubMed]; Attention-deficit/hyperactivity disorder risk alleles correlated with increased expression (and decreased methylation) of ARTN and PIDD1 and with a decreased expression (and increased methylation) of C2orf82. Publication Status: Online-Only, [RefSeq, PubMed]; Growth factor that supports the survival of sensory and sympathetic peripheral neurons in culture and also supports the survival of dopaminergic neurons of the ventral mid-brain (PubMed:10583383, PubMed:9883723). Acts by binding to its coreceptor, GFRA3, leading to autophosphorylation and activation of the RET receptor (PubMed:31535977). Strong attractant of gut hematopoietic cells thus promoting the formation Peyer's patch-like structures, a major component of the gut-associated lymphoid tissue (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Human splenic TER cells: A relevant prognostic factor acting via the artemin-GFRalpha3-ERK pathway in pancreatic ductal adenocarcinoma., [RefSeq, PubMed]; The results obtained suggest the involvement of NTN, PSP, and ART in processes subserving both the organization of this cortical region during development and the functional activity and maintenance of the mature human hippocampal neurons., [RefSeq, PubMed]; This gene encodes a secreted ligand of the glial cell line-derived neurotrophic factor (GDNF) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein signals through the RET receptor and GFR alpha 3 coreceptor, and supports the survival of a number of peripheral neuron populations and at least one population of dopaminergic CNS neurons. This protein has also been shown to promote tumor growth, metastasis, and drug resistance in mammary carcinoma. [provided by RefSeq, Aug 2016]., [RefSeq]; This study suggests that ART binds heparan sulfate proteoglycans (HSPG) and identifies residues that may be involved in HSPG binding., [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": 2, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "D3DPY1;D3DPY3;O95441;O96030;Q6P6A3", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0030971 receptor tyrosine kinase binding;GO:0008083 growth factor activity;GO:0030116 glial cell-derived neurotrophic factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0035860 glial cell-derived neurotrophic factor receptor signaling pathway;GO:0007165 signal transduction;GO:0031175 neuron projection development;GO:0007422 peripheral nervous system development;GO:0007405 neuroblast proliferation", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q5T4W7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VV41-1", "uniprot_id": [ { "id": "ARHGG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VV41", "type": "external" } ], "mass": 80105.0, "length": 709, "protein_name": "Rho guanine nucleotide exchange factor 16", "gene_name": "ARHGEF16", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 16", "refseq_ac": [ { "id": "NP_055263", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055263", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF16; EPHEXIN4; NBR", "gene_names_refseq": "ARHGEF16; GEF16; NBR", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 16; Ephexin-4", "protein_names_refseq": "Rho guanine exchange factor (GEF) 16; Rho guanine nucleotide exchange factor (GEF) 16; ephexin-4; ephexin4; rho guanine nucleotide exchange factor 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:27237); (R-HSA-193648); (R-HSA-416482); (R-HSA-9013148); (R-HSA-9013408)", "pathway_count": 5, "publication_count": 256, "publication_id_list": "10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10652265;10699171;10699464;10724160;10873802;11007481;11058585;11085924;11149925;11237011;11283606;11294240;11306516;11313914;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11689693;11696321;11704860;11742120;11756498;11756552;11773441;11804587;11804589;11804590;11864571;11884391;11912491;11948177;11967128;12071859;12093360;12096337;12097334;12101119;12123608;12172552;12177196;12195014;12221096;12351724;12376551;12432077;12433842;12464619;12515866;12531887;12547822;12650940;12773384;12857875;12860998;12877655;12907671;14506234;14512443;14673001;15023524;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15342493;15470142;15485661;15601624;15611138;15699075;15728722;15749160;15850391;15897194;15951850;16112081;16116428;16184169;16212495;16217026;16339170;16519628;16630611;16714282;16777452;16777849;16862148;16896804;16923326;16968698;17027967;17064668;17077126;17145773;17196961;17214551;17244649;17322306;17599059;17702745;17765681;17804252;17932950;17976533;18045877;18056264;18218625;18220336;18363964;18374420;18426980;18491316;18577758;18653540;18669648;18767875;18786931;18835169;18838382;18929667;19212140;19581409;19605563;19651622;19713215;19934221;20068231;20679435;21139582;21148482;21406692;21454492;21542010;21565175;21613211;21621533;21685891;21865595;21989057;22004470;22096251;22298643;22461490;22571869;22608513;22661716;22734669;22970203;23186163;23200924;23255595;23406282;23434736;23572525;23718289;24086303;24259668;24335996;24352656;24584464;24659802;24933155;24996924;25024229;25211221;25414122;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26529257;26598554;26887924;27072905;27096001;27145964;27216196;27481945;27555588;27798618;28028151;28196833;28411811;28510447;28825699;28860633;29557506;30007591;30061681;30245514;30853411;31844290;31848261;31871319;32203420;32811808;35051231;35494241;7476457;7479768;7512369;7673236;7721814;7753201;7937899;8021274;8537347;8617235;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8994827;9013646;9113980;9268338;9305890;9308960;9405671;9438849;9490638;9497316;9520479;9659915;9670022;9796816;9822605;9829970;9843499;9846874", "class_list": "", "function": "Although the specific function of this protein is not known yet, it is thought to be involved in protein-protein and protein-lipid interactions. [provided by RefSeq, Jul 2008]., [RefSeq]; FYN is required for ARHGEF16 to promote proliferation and migration in colon cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Guanyl-nucleotide exchange factor of the RHOG GTPase stimulating the exchange of RHOG-associated GDP for GTP. May play a role in chemotactic cell migration by mediating the activation of RAC1 by EPHA2. May also activate CDC42 and mediate activation of CDC42 by the viral protein HPV16 E6., [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": 15, "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": "Q86TF0;Q99434", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0045296 cadherin binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding;GO:0030165 PDZ domain binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0032956 regulation of actin cytoskeleton organization;GO:0032489 regulation of Cdc42 protein signal transduction;GO:0060326 cell chemotaxis;GO:1903078 positive regulation of protein localization to plasma membrane;GO:0090630 activation of GTPase activity", "synthesized_glycan_count": 0, "hit_score": 25.9, "record_id": "Q5VV41-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q674R7-1", "uniprot_id": [ { "id": "ATG9B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q674R7", "type": "external" } ], "mass": 101019.0, "length": 924, "protein_name": "Autophagy-related protein 9B", "gene_name": "ATG9B", "organism": "Human", "refseq_name": "autophagy-related protein 9B", "refseq_ac": [ { "id": "NP_001303985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303985", "type": "external" } ], "gene_names_uniprotkb": "ATG9B; APG9L2; NOS3AS", "gene_names_refseq": "APG9L2; ATG9B; NOS3AS; SONE", "protein_names_uniprotkb": "Autophagy-related protein 9B; APG9-like 2; Nitric oxide synthase 3-overlapping antisense gene protein; Protein sONE", "protein_names_refseq": "APG9-like 2; ATG9 autophagy related 9 homolog B; autophagy 9-like 2 protein; autophagy-related protein 9B; endothelial nitric oxide synthase antisense; nitric oxide synthase 3-overlapping antisense gene protein", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:285973); (R-HSA-1632852)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "11096062;11825910;15187094;15234981;15755735;16963840;17403686;17618624;18321988;18439900;18936157;19197948;19211835;19322194;19590496;19855179;19898463;20059746;20713597;20921139;21177865;21205641;21258367;21383122;21460621;21819378;22170151;22682742;23202584;23685627;23727157;23884233;24715725;24747438;24954904;25484072;25568151;28411811;31844290;32627317;32938616;32983136;33392160;35051231;35580925;36966459;37938170;38526029;39894887;7628435", "class_list": "", "function": "APG9L2 is highly expressed in placenta (trophoblast cells) and pituitary gland of adult tissues., [RefSeq, PubMed]; ATG9B is a tissue-specific homotrimeric lipid scramblase that can compensate for ATG9A., [RefSeq, PubMed]; Aging is associated with a decline in Atg9b-mediated autophagosome formation and appearance of enlarged mitochondria in the heart., [RefSeq, PubMed]; Contribution of NOS3AS Variants to Susceptibility to Essential Hypertension: A Study in Kermanshah Province, Western Iran., [RefSeq, PubMed]; Depletion of CPNE7 sensitizes colorectal cancer to 5-fluorouracil by downregulating ATG9B expression., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Phospholipid scramblase involved in autophagy by mediating autophagosomal membrane expansion. Cycles between the preautophagosomal structure/phagophore assembly site (PAS) and the cytoplasmic vesicle pool and supplies membrane for the growing autophagosome. Lipid scramblase activity plays a key role in preautophagosomal structure/phagophore assembly by distributing the phospholipids that arrive through ATG2 (ATG2A or ATG2B) from the cytoplasmic to the luminal leaflet of the bilayer, thereby driving autophagosomal membrane expansion (By similarity). In addition to autophagy, also plays a role in necrotic cell death (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A1A5D3;Q6JRW5;Q8N8I8", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" } ], "go_molecular_function": "GO:0017128 phospholipid scramblase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005789 endoplasmic reticulum membrane;GO:0055038 recycling endosome membrane;GO:0005776 autophagosome;GO:0034045 phagophore assembly site membrane", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0034497 protein localization to phagophore assembly site;GO:0060349 bone morphogenesis;GO:0000423 mitophagy;GO:0034727 piecemeal microautophagy of the nucleus", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q674R7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UW56-1", "uniprot_id": [ { "id": "ARAID_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UW56", "type": "external" } ], "mass": 24747.0, "length": 229, "protein_name": "All-trans retinoic acid-induced differentiation factor", "gene_name": "ATRAID", "organism": "Human", "refseq_name": "all-trans retinoic acid-induced differentiation factor isoform c precursor", "refseq_ac": [ { "id": "NP_001164266", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164266", "type": "external" } ], "gene_names_uniprotkb": "ATRAID; APR3; C2orf28; HSPC013; PRO240", "gene_names_refseq": "APR--3; APR-3; APR3; ATRAID; C2orf28; HSPC013; PRO240; p18", "protein_names_uniprotkb": "All-trans retinoic acid-induced differentiation factor; APR-3; Apoptosis-related protein 3; p18", "protein_names_refseq": "all-trans retinoic acid-induced differentiation factor isoform c precursor; apoptosis related protein APR-3; apoptosis-related protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:51374)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "10.1101/2023.09.13.557529;10948432;11237011;12975309;15340161;17387583;17524364;21723284;24715725;26375851;26992070;27846572;28218747;28467828;28832583;28904123;29242379;29393594;29557506;29741879;29745899;30573663;31416616;31844290;32387766;33141586;33392160;33587247;33592498;33936100;34171305;34357683;34509645;34846842;34932366;35051231;35580925;36215666;36284347;37938771;38665916", "class_list": "", "function": "Nell-1 could reciprocally interact with APR3 and stimulate the differentiation and mineralization of human dental pulp cells., [RefSeq, PubMed]; Promotes osteoblast cell differentiation and terminal mineralization. Plays a role in inducing the cell cycle arrest via inhibiting CCND1 expression in all-trans-retinoic acid (ATRA) signal pathway. In osteoclasts, forms a transporter complex with ATRAID for nitrogen-containing-bisphophonates (N-BPs) required for releasing N-BP molecules that have trafficked to lysosomes through fluid-phase endocytosis into the cytosol (PubMed:29745899)., [UniProtKB, PubMed, PubMed]; The Genetics of Atypical Femur Fractures-a Systematic Review., [RefSeq, PubMed]; These data suggested that APR3 might be functionally important in certain processes under which NFAT and/or NFkappaB are/is activated., [RefSeq, PubMed]; This gene is thought to be involved in apoptosis, and may also be involved in hematopoietic development and differentiation. The use of alternative splice sites and promotors result in multiple transcript variants encoding different isoforms.[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": 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": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8C1S2;A8K779;Q96FF6;Q96RT2;Q9Y2R7;Q9Y5L7", "ec_number_list": [], "go_molecular_function": "GO:0042910 xenobiotic transmembrane transporter activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0030154 cell differentiation;GO:0030501 positive regulation of bone mineralization;GO:0006855 xenobiotic transmembrane transport;GO:0045669 positive regulation of osteoblast differentiation;GO:0042177 negative regulation of protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q6UW56-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZSZ5-4", "uniprot_id": [ { "id": "ARHGI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZSZ5", "type": "external" } ], "mass": 151642.0, "length": 1361, "protein_name": "Rho guanine nucleotide exchange factor 18", "gene_name": "ARHGEF18", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 18 isoform a", "refseq_ac": [ { "id": "NP_056133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056133", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF18; KIAA0521", "gene_names_refseq": "ARHGEF18; P114-RhoGEF; RP78; SA-RhoGEF; p114RhoGEF", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 18; 114 kDa Rho-specific guanine nucleotide exchange factor; SA-RhoGEF; Septin-associated RhoGEF; p114-Rho-GEF; p114RhoGEF", "protein_names_refseq": "114 kDa Rho-specific guanine nucleotide exchange factor; Rho-specific guanine nucleotide exchange factor p114; Rho/Rac guanine nucleotide exchange factor (GEF) 18; rho guanine nucleotide exchange factor 18 isoform a; septin-associated RhoGEF", "tax_id": 9606, "disease": "retinitis pigmentosa 78 (Disease Ontology:DOID:0061113)", "pathway": " (hsa:23370); (R-HSA-193648); (R-HSA-2173791); (R-HSA-416482); (R-HSA-8980692); (R-HSA-9013149)", "pathway_count": 6, "publication_count": 372, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10873388;10873802;10877843;10958683;11007481;11058585;11085924;11149925;11207612;11283606;11294240;11313914;11318610;11373293;11396949;11431473;11432776;11447115;11584276;11606631;11672528;11680691;11689693;11704860;11707441;11742120;11756498;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11961559;12071859;12093360;12096337;12097334;12101119;12123608;12195014;12221077;12221096;12351724;12432077;12433842;12515866;12531887;12546821;12547822;12650940;12665586;12857875;12877655;12923183;12953056;14512443;14514689;1464587;14657501;14673001;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15302923;15339924;15342493;15470142;15485661;15507211;15558029;15579468;15601624;15611138;15699075;15728722;15749160;15761148;15850391;15858067;15866170;15897194;15951850;16002401;16112081;16116428;16184169;16212495;16217026;16243036;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16923326;16968698;17077126;17145773;17196961;17214551;17244649;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18158243;18218625;18249095;18347018;18374420;18396277;18426980;18577758;18653540;18829452;18838382;19212140;19269969;19494238;19605563;19635168;19673492;19713215;19934221;20030946;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21148482;21258369;21351730;21454492;21542010;21565175;21613211;21699497;21730051;21865595;21872626;21936715;21989057;22004470;22006950;22096251;22298643;22305756;22407364;22475431;22544926;22608513;22661716;22673745;22734669;22898188;22911862;22970203;22992742;23200924;23209303;23255595;23288169;23434736;23481700;23572525;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24859002;24933155;24960694;25024229;25211221;25414122;25418920;25428919;25576301;25645385;25704760;25721503;25795300;25862245;26129894;26217016;26371245;26375851;26529257;26768311;26887924;27072905;27117132;27145964;27216196;27481945;27555588;27566826;27600516;27713499;27806292;27920218;27986909;28112683;28114311;28132693;28196833;28218747;28228285;28514659;28584191;28649982;28832583;28834231;29089502;29146911;29242379;29358323;29382922;29393594;29493099;29508533;29557506;29601110;29632046;29632711;29786170;30007591;30405854;30410026;30484775;30524438;30853411;31105010;31844290;31871319;32157095;32203420;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34932366;35051231;35154160;35561310;35580925;36010968;36215666;36284347;37938771;7479768;7512369;7559638;7673236;7721814;7753201;7835339;7937899;8021274;8107774;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9111050;9113980;9233797;9305890;9308960;9418861;9438849;9490638;9497316;9520479;9535835;9548756;9582072;9659915;9670022;9792683;9796816;9822598;9822605;9829970;9843499;9988689", "class_list": "", "function": "ARHGEF18 rs3745357 variant is associated with nonidiopathic pulmonary arterial hypertension susceptibility in Chinese population. Publication Status: Online-Only, [RefSeq, PubMed]; Acts as a guanine nucleotide exchange factor (GEF) for RhoA GTPases. Its activation induces formation of actin stress fibers. Also acts as a GEF for RAC1, inducing production of reactive oxygen species (ROS). Does not act as a GEF for CDC42. The G protein beta-gamma (Gbetagamma) subunits of heterotrimeric G proteins act as activators, explaining the integrated effects of LPA and other G protein-coupled receptor agonists on actin stress fiber formation, cell shape change and ROS production. Required for EPB41L4B-mediated regulation of the circumferential actomyosin belt in epithelial cells (PubMed:22006950)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; CRB3A recruits p114RhoGEF and its activator Ehm2 to the cell periphery using both functional motifs of its cytoplasmic tail and increases RhoA activation levels., [RefSeq, PubMed]; Mutation of ARHGEF18 is a likely cause of inherited retinal dystrophy, [RefSeq, PubMed]; Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GEF family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2018]., [RefSeq]; We suggest that a portion of a 1361-residue isoform of ARHGEF18, which is unlike any other protein domain, has unique functions in control of polarity in activated eosinophils and other leukocytes, [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 18, "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": "A8MV62;B5ME81;I3L1I5;O60274;Q6DD92", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0030054 cell junction;GO:0045177 apical part of cell", "go_biological_process": "GO:0150105 protein localization to cell-cell junction;GO:0030036 actin cytoskeleton organization;GO:0007264 small GTPase-mediated signal transduction;GO:0035023 regulation of Rho protein signal transduction;GO:0008360 regulation of cell shape", "synthesized_glycan_count": 0, "hit_score": 37.3, "record_id": "Q6ZSZ5-4", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L266-1", "uniprot_id": [ { "id": "ASGL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L266", "type": "external" } ], "mass": 32055.0, "length": 308, "protein_name": "Isoaspartyl peptidase/L-asparaginase", "gene_name": "ASRGL1", "organism": "Human", "refseq_name": "isoaspartyl peptidase/L-asparaginase isoform 1", "refseq_ac": [ { "id": "NP_001077395", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077395", "type": "external" } ], "gene_names_uniprotkb": "ASRGL1; ALP; CRASH", "gene_names_refseq": "ALP1; ALP; ASRGL1; CRASH", "protein_names_uniprotkb": "Isoaspartyl peptidase/L-asparaginase; 3.4.19.5; 3.5.1.1; Asparaginase-like protein 1; Beta-aspartyl-peptidase; Isoaspartyl dipeptidase; L-asparagine amidohydrolase", "protein_names_refseq": "L-asparaginase; L-asparagine amidohydrolase; asparaginase like 1; asparaginase-like 1 protein; asparaginase-like protein 1; beta-aspartyl-peptidase; isoaspartyl dipeptidase; isoaspartyl peptidase/L-asparaginase isoform 1; isoaspartyl peptidase/L-asparaginase; testis secretory sperm-binding protein Li 242mP", "tax_id": 9606, "disease": "", "pathway": " (hsa:80150); (R-HSA-8964208)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "11237011;11984834;14654938;15364907;17356132;19338303;19414332;19839645;22861376;22891768;24715725;24768817;26154972;26992070;27106100;27600516;29493099;29557506;29767260;3033643;31844290;32434038;32488085;32502341;32983136;34509645;35051231;35580925;36572570;36842323;38755145;7744010;7883047;8262916;8294935;8352282;8444860;8889590;9642259", "class_list": "", "function": "ASRGL1 downregulation suppresses hepatocellular carcinoma tumorigenesis in a CDK1-dependent manner., [RefSeq, PubMed]; ASRGL1 exhibits beta-aspartyl peptidase activity consistent with plant-type asparaginases. ASRGL1 is shown to be an Ntn hydrolase for which Thr168 serves as the essential N-terminal nucleophile for intramolecular processing and catalysis., [RefSeq, PubMed]; ASRGL1 was closely associated with growth and apoptosis in cervical cancer. Therefore, ASRGL1 may be a novel, potentially effective anticervical cancer therapy., [RefSeq, PubMed]; Has both L-asparaginase and beta-aspartyl peptidase activity. May be involved in the production of L-aspartate, which can act as an excitatory neurotransmitter in some brain regions. Is highly active with L-Asp beta-methyl ester. Besides, has catalytic activity toward beta-aspartyl dipeptides and their methyl esters, including beta-L-Asp-L-Phe, beta-L-Asp-L-Phe methyl ester (aspartame), beta-L-Asp-L-Ala, beta-L-Asp-L-Leu and beta-L-Asp-L-Lys. Does not have aspartylglucosaminidase activity and is inactive toward GlcNAc-L-Asn. Likewise, has no activity toward glutamine., [UniProtKB, PubMed, PubMed]; Human ALP cDNA was subsequently cloned. It showed 77% identity to the rat ALP sequence and the gene, ASRGL1 (asparaginase-like 1), mapped to chromosome locus 11q12.3., [RefSeq, PubMed]; L-Asparaginase regulates mTORC1 activity via a TSC2-dependent pathway in pancreatic beta cells., [RefSeq, PubMed]; Overexpression of CRASH is associated with metastatic breast cancer., [RefSeq, PubMed]; TDP-43 proteinopathy in ALS is triggered by loss of ASRGL1 and associated with HML-2 expression. Publication Status: Online-Only, [RefSeq, PubMed]; The role of the quaternary structure in the activation of human L-asparaginase., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2R7Q0;Q567Q4;Q6P1P0;Q8NI34;Q9H6F7", "ec_number_list": [ { "id": "3.4.19.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.5", "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" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" } ], "go_molecular_function": "GO:0004067 asparaginase activity;GO:0008798 beta-aspartyl-peptidase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001917 photoreceptor inner segment", "go_biological_process": "GO:0006508 proteolysis;GO:0033345 L-asparagine catabolic process via L-aspartate", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q7L266-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z4Y8-1", "uniprot_id": [ { "id": "AT5L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z4Y8", "type": "external" } ], "mass": 11037.0, "length": 100, "protein_name": "ATP synthase subunit g 2, mitochondrial", "gene_name": "ATP5MGL", "organism": "Human", "refseq_name": "ATP synthase subunit g 2, mitochondrial", "refseq_ac": [ { "id": "NP_001159349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159349", "type": "external" } ], "gene_names_uniprotkb": "ATP5MGL; ATP5K2; ATP5L2", "gene_names_refseq": "ATP5K2; ATP5L2; ATP5MGL", "protein_names_uniprotkb": "ATP synthase subunit g 2, mitochondrial; ATP synthase membrane subunit g-like protein; ATPase subunit g 2", "protein_names_refseq": "ATP synthase membrane subunit g-like protein; ATP synthase subunit g 2, mitochondrial; ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2 pseudogene; ATP synthase, H+ transporting, mitochondrial F1F0, subunit g; ATP synthase, H+ transporting, mitochondrial Fo complex subunit G2; ATPase subunit g 2; putative ATP synthase subunit g 2, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:267020)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "22544926;27452731;28228285;28832583;29242379;29557506;29786170;30315122;30524438;33043033;33141586;33392160;35051231", "class_list": "", "function": "Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) 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. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a 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. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane (By similarity)., [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": 2, "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:0015078 proton transmembrane transporter activity", "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": 1.4, "record_id": "Q7Z4Y8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N100-1", "uniprot_id": [ { "id": "ATOH7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N100", "type": "external" } ], "mass": 16871.0, "length": 152, "protein_name": "Transcription factor ATOH7", "gene_name": "ATOH7", "organism": "Human", "refseq_name": "transcription factor ATOH7", "refseq_ac": [ { "id": "NP_660161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660161", "type": "external" } ], "gene_names_uniprotkb": "ATOH7; ATH5; BHLHA13", "gene_names_refseq": "ATOH7; Math5; NCRNA; PHPVAR; RNANC; bHLHa13", "protein_names_uniprotkb": "Transcription factor ATOH7; Atonal bHLH transcription factor 7; Class A basic helix-loop-helix protein 13; Protein atonal homolog 7; bHLHa13", "protein_names_refseq": "atonal homolog bHLH transcription factor 7; class A basic helix-loop-helix protein 13; helix-loop-helix protein hATH-5; protein atonal homolog 7; transcription factor ATOH7", "tax_id": 9606, "disease": "persistent hyperplastic primary vitreous (Disease Ontology:DOID:0060282)", "pathway": " (hsa:220202)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11889557;14516699;20395239;21441919;22068589;22645276;26933893;28192794;31696227;35162975;35389970;37089697;39894887", "class_list": "", "function": "Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia., [RefSeq, PubMed]; Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7. Publication Status: Online-Only, [RefSeq, PubMed]; OCULAR FEATURES ASSOCIATED WITH MUTATIONS IN ATOH7 GENE OVERLAP THOSE WITH FAMILIAL EXUDATIVE VITREORETINOPATHY., [RefSeq, PubMed]; This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011]., [RefSeq]; Transcription factor that binds to DNA at the consensus sequence 5'-CAG[GC]TG-3' (PubMed:31696227). Dimerization with TCF3 isoform E47 may be required in certain situations (PubMed:31696227). Binds to gene promoters and enhancer elements, and thereby regulates a transcriptional program of retinal ganglion cell (RGC) determinant genes (By similarity). Although the exact mechanism is not certain, retinal transcription regulation by ATOH7 has a role in RGC determination and survival, photoreceptor population development, targeting of RGC axons to the optic nerve and development of the retino-hypothalamic tract (By similarity). Binds to its own promoter and enhancer sequences, suggesting autoregulation of ATOH7 transcription (By similarity). Required for retinal circadian rhythm photoentrainment (By similarity). Plays a role in brainstem auditory signaling and binaural processing (By similarity)., [UniProtKB, PubMed, UniProtKB]; Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR. 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": 2, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0000976 transcription cis-regulatory region binding;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:0005654 nucleoplasm;GO:0030424 axon;GO:0043204 perikaryon;GO:0000785 chromatin", "go_biological_process": "GO:0003407 neural retina development;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:0010996 response to auditory stimulus", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8N100-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N7S6-1", "uniprot_id": [ { "id": "ARI2O_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N7S6", "type": "external" } ], "mass": 30424.0, "length": 290, "protein_name": "Uncharacterized protein ARIH2OS", "gene_name": "ARIH2OS", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ARIH2OS; C3orf71", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein ARIH2OS; Ariadne-2 homolog opposite strand protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "29557506;33392160;35051231;38253038", "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": 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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8N7S6-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBQ7-1", "uniprot_id": [ { "id": "AQP11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBQ7", "type": "external" } ], "mass": 30203.0, "length": 271, "protein_name": "Aquaporin-11", "gene_name": "AQP11", "organism": "Human", "refseq_name": "aquaporin-11 isoform 1", "refseq_ac": [ { "id": "NP_766627", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_766627", "type": "external" } ], "gene_names_uniprotkb": "AQP11; AQPX1; PSEC0027", "gene_names_refseq": "AQP11; AQPX1", "protein_names_uniprotkb": "Aquaporin-11; AQP-11", "protein_names_refseq": "AQP-11; aquaporin-11 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:282679); (R-HSA-432047)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "10510269;10564231;11001937;11027599;11034202;11076974;11231887;11532455;11573934;11952783;12084581;12801959;1373524;14514735;14592814;14701836;1510932;15703994;15948717;16303743;16325777;16407156;16596446;17178220;17374283;17920625;18202181;18501347;18511455;18555844;18678926;18762715;18768791;18948439;19144687;19170255;19383790;19574955;19590626;19812234;19857466;20147624;21251984;23359558;23481700;24715725;24845055;24918044;28218747;28832583;29437277;3049610;31154438;31546170;31685402;32512939;32938616;35051231;36403720;36420936;38451099;7510718;7530250;7535000;7678419;8140421;8621489;8812490;8855281;9369468;9405233;9806845;9829975", "class_list": "", "function": "Aquaporin 11 alleviates retinal Muller intracellular edema through water efflux in diabetic retinopathy., [RefSeq, PubMed]; Aquaporin-11 Contributes to TGF-beta1-Induced Endoplasmic Reticulum Stress in Human Visceral Adipocytes: Role in Obesity-Associated Inflammation. Publication Status: Online-Only, [RefSeq, PubMed]; Channel protein that facilitates the transport of water, glycerol and hydrogen peroxide across membrane of cell or organelles guaranteeing intracellular homeostasis in several organes like liver, kidney and brain (PubMed:24845055, PubMed:24918044, PubMed:31546170). In situation of stress, participates in endoplasmic reticulum (ER) homeostasis by regulating redox homeostasis through the transport of hydrogen peroxide across the endoplasmic reticulum membrane thereby regulating the oxidative stress through the NADPH oxidase 2 pathway (PubMed:31546170). Plays a role by maintaining an environment suitable for translation or protein foldings in the ER lumen namely by participating in the PKD1 glycosylation processing resulting in regulation of PKD1 membrane trafficking thereby preventing the accumulation of unfolding protein in ER (By similarity). Plays a role in the proximal tubule function by regulating its endosomal acidification (By similarity). May play a role in postnatal kidney development (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Hydrogen peroxide in the ER: A tale of triage., [RefSeq, PubMed]; Protective roles of peroxiporins AQP0 and AQP11 in human astrocyte and neuronal cell lines in response to oxidative and inflammatory stressors., [RefSeq, PubMed]; Variants in AQP11 may result in autosomal recessive bilateral cystic renal dysgenesis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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:0015267 channel activity;GO:0015250 water channel activity;GO:0015254 glycerol channel activity;GO:0140070 hydrogen peroxide channel activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0051260 protein homooligomerization;GO:0006612 protein targeting to membrane;GO:0009101 glycoprotein biosynthetic process;GO:0050680 negative regulation of epithelial cell proliferation", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q8NBQ7-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NDY3-1", "uniprot_id": [ { "id": "ARHL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NDY3", "type": "external" } ], "mass": 40105.0, "length": 354, "protein_name": "Inactive ADP-ribosyltransferase ARH2", "gene_name": "ADPRHL1", "organism": "Human", "refseq_name": "inactive ADP-ribosyltransferase ARH2 isoform 1", "refseq_ac": [ { "id": "NP_612439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612439", "type": "external" } ], "gene_names_uniprotkb": "ADPRHL1; ARH2", "gene_names_refseq": "ADPRHL1; ARH2", "protein_names_uniprotkb": "Inactive ADP-ribosyltransferase ARH2; ADP-ribosylhydrolase-like protein 1; [Protein ADP-ribosylarginine] hydrolase-like protein 1", "protein_names_refseq": "ADP-ribosyl-hydrolase; ADP-ribosylarginine hydrolase like 1; ADP-ribosylhydrolase 2; ADP-ribosylhydrolase-like protein 1; [Protein ADP-ribosylarginine] hydrolase-like protein 1; inactive ADP-ribosyltransferase ARH2 isoform 1; inactive ADP-ribosyltransferase ARH2", "tax_id": 9606, "disease": "", "pathway": " (hsa:113622)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;12070318;27217161;28832583;34528284;35580925;36241641;37880701", "class_list": "", "function": "ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM, Mar 2008]., [RefSeq]; Hybrid human-Xenopus Adprhl1 protein constructs were produced by utilizing restriction sites from one species and engineering the same site into the second species by PCR. Hearts containing human ADPRHL1 developed normally. Engineered human-Xenopus hybrid proteins cause extensive branching of myofibrils with sarcomere division occurring at the actin-Z-disc boundary., [RefSeq, PubMed]; Non-genetic and genetic rewiring underlie adaptation to hypomorphic alleles of an essential gene., [RefSeq, PubMed]; Required for myofibril assembly and outgrowth of the cardiac chambers in the developing heart (By similarity). Appears to be catalytically inactive, showing no activity against O-acetyl-ADP-ribose (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; The pseudoenzyme ADPRHL1 affects cardiac function by regulating the ROCK 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": 1, "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": "Q5JUG2;Q96GD1", "ec_number_list": [], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003875 ADP-ribosylarginine hydrolase activity;GO:0046872 metal ion binding;GO:0016799 hydrolase activity, hydrolyzing N-glycosyl compounds", "go_cellular_component": "GO:0030017 sarcomere", "go_biological_process": "GO:0055003 cardiac myofibril assembly;GO:0051725 protein de-ADP-ribosylation;GO:0003242 cardiac chamber ballooning", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NDY3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFD5-5", "uniprot_id": [ { "id": "ARI1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFD5", "type": "external" } ], "mass": 243943.0, "length": 2319, "protein_name": "AT-rich interactive domain-containing protein 1B", "gene_name": "ARID1B", "organism": "Human", "refseq_name": "AT-rich interactive domain-containing protein 1B isoform 2", "refseq_ac": [ { "id": "NP_001358585", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001358585", "type": "external" } ], "gene_names_uniprotkb": "ARID1B; BAF250B; DAN15; KIAA1235; OSA2", "gene_names_refseq": "6A3-5; ARID1B; BAF250B; BRIGHT; CSS1; DAN15; ELD/OSA1; MRD12; OSA2; P250R; SMARCF2", "protein_names_uniprotkb": "AT-rich interactive domain-containing protein 1B; ARID domain-containing protein 1B; BAF250B; BRG1-associated factor 250b; BRG1-binding protein hELD/OSA1; Osa homolog 2; hOsa2; p250R", "protein_names_refseq": "ARID domain-containing protein 1B; AT rich interactive domain 1B (SWI1-like); AT-rich interactive domain-containing protein 1B isoform 2; BRG1-associated factor 250b; BRG1-binding protein ELD/OSA1; ELD (eyelid)/OSA protein", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); Coffin-Siris syndrome 1 (Disease Ontology:DOID:0070042); Coffin-Siris syndrome 2 (Disease Ontology:DOID:0070044); intellectual disability (Disease Ontology:DOID:1059); hypertension (Disease Ontology:DOID:10763); alcohol use disorder (Disease Ontology:DOID:1574); cancer (Disease Ontology:DOID:162); Coffin-Siris syndrome (Disease Ontology:DOID:1925); ischemia (Disease Ontology:DOID:326); lung non-small cell carcinoma (Disease Ontology:DOID:3908); kidney disease (Disease Ontology:DOID:557); neuroblastoma (Disease Ontology:DOID:769)", "pathway": " (hsa:57492); (R-HSA-3214858); (R-HSA-8939243); (R-HSA-9824585); (R-HSA-9845323); (R-HSA-9933937); (R-HSA-9934037)", "pathway_count": 7, "publication_count": 111, "publication_id_list": "10.1101/2023.09.13.557529;10587587;11341840;11448779;11532965;11734557;11747826;11751582;11756452;11856727;11964381;11988099;12062444;12200431;12368262;12665591;12672490;1321344;14982958;15170388;1537333;1537334;15485929;15543135;15695812;15729346;16303920;16917507;16959974;17182843;17215844;17640523;17898714;17952075;18079182;18404153;18483556;18669648;18695000;18697795;18765789;18812475;19234465;19389701;19608861;19717472;20068231;20305658;20506188;20951943;21316606;21406692;21774791;22231400;22325351;22405089;22426308;22426309;22952240;23186163;23481700;23644491;23785148;24129315;24267888;25576301;25645385;25892735;26376624;26601204;26637798;26694611;27600516;27920218;28063628;28218747;28228285;28533407;28832583;28834231;29242379;29351928;29393594;29508533;29632046;29632711;29786170;30515787;31154438;31492838;33100333;34019948;35132862;35254053;35289036;35580127;36284347;37938771;38359823;38665916;38790056;39028335;39531497;40307207;7813420;8306979;8896557;8921401;9642256;9758418;9804814", "class_list": "", "function": "Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein., [RefSeq, PubMed]; De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia. Publication Status: Online-Only, [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). Binds DNA non-specifically (PubMed:14982958, PubMed:15170388)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation., [RefSeq, PubMed]; This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]., [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": 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 91, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 12, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q5JRD1;Q5VYC4;Q8IZY8;Q8TEV0;Q8TF02;Q99491;Q9ULI5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016514 SWI/SNF complex;GO:0071565 nBAF complex;GO:0000785 chromatin;GO:0035060 brahma complex", "go_biological_process": "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;GO:0045597 positive regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q8NFD5-5", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92482-1", "uniprot_id": [ { "id": "AQP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92482", "type": "external" } ], "mass": 31544.0, "length": 292, "protein_name": "Aquaporin-3", "gene_name": "AQP3", "organism": "Human", "refseq_name": "aquaporin-3 isoform 2", "refseq_ac": [ { "id": "NP_001305073", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305073", "type": "external" } ], "gene_names_uniprotkb": "AQP3", "gene_names_refseq": "AQP-3; AQP3; GIL", "protein_names_uniprotkb": "Aquaporin-3; AQP-3; Aquaglyceroporin-3", "protein_names_refseq": "aquaglyceroporin-3; aquaporin 3 (GIL blood group); aquaporin-3 isoform 2", "tax_id": 9606, "disease": "nephrogenic diabetes insipidus (Disease Ontology:DOID:12387); hypothyroidism (Disease Ontology:DOID:1459); brain ischemia (Disease Ontology:DOID:2316); brain edema (Disease Ontology:DOID:4724)", "pathway": " (hsa:360); (R-HSA-432040); (R-HSA-432047); (R-HSA-9725554)", "pathway_count": 4, "publication_count": 139, "publication_id_list": "10510269;10564231;10649434;11001937;11027599;11034202;11076974;11231887;11237011;11532455;11573934;11751877;11952783;11968001;12067728;12084581;12194985;12239222;12624109;12801959;1373524;14514735;14592814;14701836;1510932;15140226;15234001;1534149;15556625;15675955;15703994;15780751;15948717;16120822;16297201;16325777;16407073;16407156;16596446;17156409;17178220;17330888;17374283;17920625;18202181;18495115;18501347;18511455;18555844;18678926;18762715;18768791;18948439;19144687;19170255;19383790;19574955;19590626;19857466;19924134;20112406;20147624;20724658;21251984;22735594;23283814;23359558;23629652;24029068;24794495;25576301;26340985;26375851;26992070;27397612;27862975;27893789;28832583;28834231;29331515;29393594;29493099;29557506;29769354;29786170;29789417;2991279;30420639;30429286;30484775;3049610;30779550;30833945;30905808;3104109;31154438;31399284;31844290;31848261;32157095;32161166;32387766;32983136;33043033;33392160;34171305;35051231;35580925;36010968;36241641;36284347;38279209;38338680;38726865;39279492;4065330;7503232;7510718;7526388;7530250;7535000;7538665;7558005;7678419;8063828;8140421;8621489;8621513;8683474;8812490;8855281;9227644;9369468;9374639;9374640;9405233;9756892;9806845;9829975", "class_list": "", "function": "AQP3 and AQP9-Contrary Players in Sepsis? Publication Status: Online-Only, [RefSeq, PubMed]; Aquaglyceroporins form homotetrameric transmembrane channels, with each monomer independently mediating glycerol and water transport across the plasma membrane along their osmotic gradient (PubMed:12239222, PubMed:30420639). Could also be permeable to urea (By similarity). Also participates in cell permeability to H2O2 and H2O2-mediated signaling (PubMed:20724658). In skin, transports glycerol to the epidermis and stratum corneum, where it maintains hydration, elasticity, and supports lipid biosynthesis for barrier repair (By similarity). In kidney, contributes to the reabsorption of water, helping the body maintain proper fluid balance (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; First reported cases of AQP3 deficiency in humans and provide the molecular basis of a new blood group system, GIL, encoded by the AQP3 protein, [RefSeq, PubMed]; SCF[FBXW5]-mediated degradation of AQP3 suppresses autophagic cell death through the PDPK1-AKT-MTOR axis in hepatocellular carcinoma cells., [RefSeq, PubMed]; The Aquaporin 3 Polymorphism (rs17553719) Is Associated with Sepsis Survival and Correlated with IL-33 Secretion. Publication Status: Online-Only, [RefSeq, PubMed]; 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 the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]., [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": 5, "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": "A8K843;B2RE16;D3DRL3;O00108;Q6FGT2;Q6FGW6", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0015250 water channel activity;GO:0015254 glycerol channel activity;GO:0015204 urea transmembrane transporter activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0016020 membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0003091 renal water homeostasis;GO:0051592 response to calcium ion;GO:0071456 cellular response to hypoxia;GO:0032526 response to retinoic acid;GO:0042476 odontogenesis", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "Q92482-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92484-1", "uniprot_id": [ { "id": "ASM3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92484", "type": "external" } ], "mass": 51260.0, "length": 453, "protein_name": "Cyclic GMP-AMP phosphodiesterase SMPDL3A", "gene_name": "SMPDL3A", "organism": "Human", "refseq_name": "cyclic GMP-AMP phosphodiesterase SMPDL3A isoform b", "refseq_ac": [ { "id": "NP_001273067", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273067", "type": "external" } ], "gene_names_uniprotkb": "SMPDL3A; ASML3A", "gene_names_refseq": "ASM3A; ASML3a; SMPDL3A; yR36GH4.1", "protein_names_uniprotkb": "Cyclic GMP-AMP phosphodiesterase SMPDL3A; 2',3'-cGAMP phosphodiesterase SMPDL3A; 3.1.4.-; 3.6.1.15; ASM-like phosphodiesterase 3a; Acid sphingomyelinase-like phosphodiesterase 3a", "protein_names_refseq": "0610010C24Rik; 2',3'-cGAMP phosphodiesterase SMPDL3A; ASM-like phosphodiesterase 3a; acid sphingomyelinase-like phosphodiesterase 3a; cyclic GMP-AMP phosphodiesterase SMPDL3A isoform b; cyclic GMP-AMP phosphodiesterase SMPDL3A", "tax_id": 9606, "disease": "", "pathway": " (hsa:10924)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "10.1101/2023.09.13.557529;12442002;19159218;22810003;23090970;24190977;25288789;25880248;25892735;26783088;27397612;27862975;28104755;28414139;29557506;29671580;29741879;29769354;29786170;30315122;30429286;30573663;31154438;31848261;32157095;32350084;32357974;33298915;33592498;33968037;34185709;34357683;35051231;35494241;35580925;36010968;37074911;37890481;38665916", "class_list": "", "function": "ASML3a is involved in the process of bladder tumorigenesis, [RefSeq, PubMed]; Activation of pregnane X receptor induces SMPDL3A expression in primary hepatocytes., [RefSeq, PubMed]; Cyclic-nucleotide phosphodiesterase that acts as a negative regulator of innate immunity by mediating degradation of 2',3'-cGAMP, thereby inhibiting the cGAS-STING signaling (PubMed:37890481). Specifically linearizes 2',3'-cGAMP into 2'5'-bond pGpA and further hydrolyzes pGpA to produce GpA (PubMed:37890481). Also has in vitro nucleotide phosphodiesterase activity with nucleoside triphosphates, such as ATP (PubMed:25288789, PubMed:26783088). Has in vitro activity with p-nitrophenyl-TMP (PubMed:25288789). Has lower activity with nucleoside diphosphates, and no activity with nucleoside monophosphates (PubMed:25288789, PubMed:26783088, PubMed:28104755). Has in vitro activity with CDP-choline, giving rise to CMP and phosphocholine. Has in vitro activity with CDP-ethanolamine (PubMed:26783088). Does not have sphingomyelin phosphodiesterase activity (PubMed:25288789, PubMed:26783088)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Data indicate that sphingomyelin phosphodiesterase acid-like 3A (SMPDL3A) is a nucleotide phosphodiesterase secreted from cholesterol-loaded macrophages., [RefSeq, PubMed]; Site-specific N-glycosylation is essential for the intracellular stability, secretion and activity of human SMPDL3A. Publication Status: Online-Only, [RefSeq, PubMed]; Solved the structure of SMPDL3a revealing a calcineurin-like fold. A dimetal site, glycosylation pattern and a disulfide bond network are likely to be conserved also in aSMase. We show that the binuclear site of SMPDL3a is occupied by two Zn(2+) ions., [RefSeq, PubMed]; The induction of SMPDL3A is liver X receptor-dependent and is restricted to human blood cells with no induction observed in mouse cellular systems., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "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": 6, "reported_o_glycosites": 0, "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": 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": 1, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 21, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B7Z729;Q8WV13", "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": "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": "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:0008270 zinc ion binding;GO:0016887 ATP hydrolysis activity;GO:0008081 phosphoric diester hydrolase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "GO:0009143 nucleoside triphosphate catabolic process;GO:0160049 negative regulation of cGAS/STING signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q92484-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100100011001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96IT6-1", "uniprot_id": [ { "id": "ARAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96IT6", "type": "external" } ], "mass": 6106.0, "length": 56, "protein_name": "Putative uncharacterized protein ARHGAP5-AS1", "gene_name": "ARHGAP5-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ARHGAP5-AS1; C14orf128", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein ARHGAP5-AS1; ARHGAP5 antisense RNA 1; ARHGAP5 antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "33968037;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": "B2RAE2;D3DS88", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q96IT6-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96P48-6", "uniprot_id": [ { "id": "ARAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96P48", "type": "external" } ], "mass": 162192.0, "length": 1450, "protein_name": "Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1", "gene_name": "ARAP1", "organism": "Human", "refseq_name": "arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1 isoform c", "refseq_ac": [ { "id": "NP_001035207", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035207", "type": "external" } ], "gene_names_uniprotkb": "ARAP1; CENTD2; KIAA0782", "gene_names_refseq": "ARAP1; CENTD2; cnt-d2", "protein_names_uniprotkb": "Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1; Centaurin-delta-2; Cnt-d2", "protein_names_refseq": "ARF-GAP, RHO-GAP, ankyrin repeat, and pleckstrin homology domains-containing protein 1; ArfGAP with RhoGAP domain, ANK repeat and PH domain-containing protein 1; arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1 isoform c; arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1; centaurin-delta-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:116985); (R-HSA-8849469); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 5, "publication_count": 402, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10724160;10873388;10873802;10958683;11007481;11058585;11085924;11149925;11207612;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11961559;12071859;12093360;12096337;12172552;12195014;12221077;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;15539407;15579468;15601624;15611138;15728722;15850391;15858067;15866170;15897194;16002401;16112081;16116428;16184169;16217026;16243036;16467373;16473593;16492808;16497976;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16968698;17064668;17077126;17081983;17145773;17196961;17214551;17244649;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18003747;18006505;18045877;18056264;18158243;18165900;18218625;18220336;18249095;18347018;18363964;18396277;18426980;18653540;18669648;18764928;18786931;18829452;18835169;18838382;18929667;18939958;19269969;19494238;19605563;19635168;19651622;19666464;19673492;19690332;19713215;19934221;20030946;20068231;20101212;20112406;20400958;20460433;20554524;20591975;20606012;20628200;20660154;20679435;20810653;21148482;21275903;21351730;21454492;21542010;21565175;21613211;21685891;21699497;21730051;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22573888;22608513;22673745;22734669;22911862;22970203;22992742;23186163;23200924;23209303;23255595;23288169;23352614;23406282;23434736;23572525;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24523872;24584464;24714562;24715725;24859002;24933155;24960694;24996924;25019382;25024229;25211221;25428919;25505266;25576301;25704760;25721503;25795300;25862245;25963737;26129894;26154972;26299518;26371245;26529257;26598554;26811146;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27600516;27713499;27798618;27806292;27846572;27862975;27920218;27986909;28028151;28063628;28112683;28114311;28196833;28218747;28228285;28446606;28584191;28649982;28825699;28832583;28834231;28860633;28904123;29089502;29146911;29242379;29351928;29358323;29382922;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30061681;30192525;30315122;30410026;30779550;30833945;30853411;31092671;31105010;31154438;31217245;31530632;31844290;31848261;31871319;31998317;32157095;32161166;32203420;32265295;32350084;32357974;32387766;32502341;32938616;32969198;32983136;33123756;33141586;33298915;33633747;33691108;33717175;33912179;33936100;33968037;34171305;34185709;34357683;34561969;34725712;34932366;35051231;35163144;35561310;35580925;35758026;36010968;36241641;36284347;37938771;38682696;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;9792683;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "ARAP1 acts primarily on Arf6 in vivo., [RefSeq, PubMed]; Arap1 loss causes retinal pigment epithelium phagocytic dysfunction and subsequent photoreceptor death., [RefSeq, PubMed]; Arf GTPase-Activating proteins ADAP1 and ARAP1 regulate incorporation of CD63 in multivesicular bodies., [RefSeq, PubMed]; Deep Resequencing of 9 Candidate Genes Identifies a Role for ARAP1 and IGF2BP2 in Modulating Insulin Secretion Adjusted for Insulin Resistance in Obese Southern Europeans. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA ARAP1-AS2 promotes high glucose-induced human proximal tubular cell injury via persistent transactivation of the EGFR by interacting with ARAP1., [RefSeq, PubMed]; Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members (PubMed:11804590, PubMed:19666464). Activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding and, to a lesser extent, by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) binding (PubMed:11804590). Has a preference for ARF1 and ARF5 (PubMed:11804590, PubMed:19666464). Positively regulates the ring size of circular dorsal ruffles and promotes macropinocytosis (PubMed:22573888). Acts as a bridging factor in osteoclasts to control actin and membrane dynamics (By similarity). Regulates the condensing of osteoclast podosomes into sealing zones which segregate the bone-facing membrane from other membrane domains and are required for osteoclast resorption activity (By similarity). Also regulates recruitment of the AP-3 complex to endosomal membranes and trafficking of lysosomal membrane proteins to the ruffled membrane border of osteoclasts to modulate bone resorption (By similarity). Regulates the endocytic trafficking of EGFR (PubMed:18764928, PubMed:18939958, PubMed:21275903). Regulates the incorporation of CD63 and CD9 into multivesicular bodies (PubMed:38682696). Required in the retinal pigment epithelium (RPE) for photoreceptor survival due to its role in promoting RPE phagocytosis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 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": 13, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 19, "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": "A3KLL7;B2RTS2;O94879;Q4LDD5;Q59FI7;Q6PHS3;Q8WU51;Q96HP6;Q96L71", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0008270 zinc ion binding;GO:0031702 type 1 angiotensin receptor binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0045124 regulation of bone resorption;GO:0031344 regulation of cell projection organization;GO:0007015 actin filament organization;GO:0007165 signal transduction;GO:0032956 regulation of actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 40.5, "record_id": "Q96P48-6", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96Q27-2", "uniprot_id": [ { "id": "ASB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96Q27", "type": "external" } ], "mass": 70212.0, "length": 635, "protein_name": "Ankyrin repeat and SOCS box protein 2", "gene_name": "ASB2", "organism": "Human", "refseq_name": "ankyrin repeat and SOCS box protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001189358", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189358", "type": "external" } ], "gene_names_uniprotkb": "ASB2", "gene_names_refseq": "ASB-2; ASB2", "protein_names_uniprotkb": "Ankyrin repeat and SOCS box protein 2; ASB-2", "protein_names_refseq": "ankyrin repeat and SOCS box protein 2 isoform 1; ankyrin repeat and SOCS box-containing protein 2a", "tax_id": 9606, "disease": "", "pathway": " (hsa:51676); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 158, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11111040;11259415;11292861;11292862;11350924;11454738;11566180;11585840;11682484;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;15590664;15601839;15652483;15688063;15694336;15799966;16171779;16325183;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19300455;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21119685;21447816;21463634;21737450;21778237;21863050;21940857;22306028;22382022;22466964;22537386;2261476;22916308;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24044920;24052262;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25418920;25531226;25892735;26344709;26460955;26632597;26906416;27030794;27222660;27565346;27862975;28115426;28218747;28832583;29153394;29242379;29393594;29769354;29955039;30116272;30315122;30524438;30610225;31154438;31530632;31848261;32005965;32179481;32284348;33444648;34845242;36284347;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Functionally relevant miRNA/mRNA interactions were identified in skeletal muscles of myotonic dystrophy type 1 patients, highlighting the dysfunction of miR-29c and ASB2. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in myogenic differentiation and targets filamin FLNB for proteasomal degradation but not filamin FLNA (PubMed:19300455). Also targets DES for proteasomal degradation (By similarity). Acts as a negative regulator of skeletal muscle mass (By similarity)., [UniProtKB, PubMed, UniProtKB]; Notch signaling can initiate Asb2 transcription and NF-kappa B activation in T cell acute lymphoblastic leukemia cells. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:15590664, PubMed:16325183). Mediates Notch-induced ubiquitination and degradation of substrates including TCF3/E2A and JAK2 (PubMed:21119685). Required during embryonic heart development for complete heart looping (By similarity). Required for cardiomyocyte differentiation (PubMed:32179481). Specifically promotes the ubiquitination of SMAD9 and targets it for proteasomal degradation, leading to avoid excessive accumulation of SMAD9 (PubMed:34845242). Plays a role in the regulation of NK-cell migration by modulating protein levels of filamin A/FLNA via regulation of its ubiquitination and proteasome degradation (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Targets filamins FLNA and FLNB for proteasomal degradation (PubMed:21737450, PubMed:22916308, PubMed:24044920, PubMed:24052262). This leads to enhanced adhesion of hematopoietic cells to fibronectin (PubMed:21737450). Required for FLNA degradation in immature cardiomyocytes which is necessary for actin cytoskeleton remodeling, leading to proper organization of myofibrils and function of mature cardiomyocytes (By similarity). Required for degradation of FLNA and FLNB in immature dendritic cells (DC) which enhances immature DC migration by promoting DC podosome formation and DC-mediated degradation of the extracellular matrix (By similarity). Does not promote proteasomal degradation of tyrosine-protein kinases JAK1 or JAK2 in hematopoietic cells (PubMed:22916308)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 8, "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": "B2RDP9;B4E166;Q9NSU5;Q9Y567", "ec_number_list": [], "go_molecular_function": "GO:0097602 cullin family protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001725 stress fiber;GO:0030018 Z disc", "go_biological_process": "GO:2000812 regulation of barbed-end actin filament capping;GO:0007165 signal transduction;GO:0035556 intracellular signal transduction;GO:0030036 actin cytoskeleton organization;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 15.9, "record_id": "Q96Q27-2", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99941-1", "uniprot_id": [ { "id": "ATF6B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99941", "type": "external" } ], "mass": 76709.0, "length": 703, "protein_name": "Cyclic AMP-dependent transcription factor ATF-6 beta", "gene_name": "ATF6B", "organism": "Human", "refseq_name": "cyclic AMP-dependent transcription factor ATF-6 beta isoform b", "refseq_ac": [ { "id": "NP_001129625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129625", "type": "external" } ], "gene_names_uniprotkb": "ATF6B; CREBL1; G13", "gene_names_refseq": "ATF6B; ATF6beta; CREB-RP; CREBL1; G13", "protein_names_uniprotkb": "Cyclic AMP-dependent transcription factor ATF-6 beta; ATF6-beta; Activating transcription factor 6 beta; Creb-rp; Protein G13; cAMP response element-binding protein-related protein; cAMP-dependent transcription factor ATF-6 beta; cAMP-responsive element-binding protein-like 1", "protein_names_refseq": "Creb-related protein; cAMP response element-binding protein-related protein; cAMP-dependent transcription factor ATF-6 beta; cAMP-responsive element-binding protein-like 1; cyclic AMP-dependent transcription factor ATF-6 beta isoform b; cyclic AMP-dependent transcription factor ATF-6 beta; protein G13", "tax_id": 9606, "disease": "congenital myasthenic syndrome 2C (Disease Ontology:DOID:0110680); congenital myasthenic syndrome 2A (Disease Ontology:DOID:0110681)", "pathway": " (hsa:1388); (R-HSA-8874177)", "pathway_count": 2, "publication_count": 91, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11158310;11237011;11256944;14656967;14973138;17522056;19693772;22223895;23481700;23584533;24190977;24714562;24715725;25418920;25447309;25576301;25645385;25813380;26154972;26375851;26648175;26728094;26992070;27600516;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632711;29786170;29789417;30429286;30459171;30484775;30524438;31217245;31844290;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32504404;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33894672;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34509645;34561969;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36696173;37074911;37938771;8586413;8870652;8923003", "class_list": "", "function": "Establishment of a reporter system for monitoring activation of the ER stress transducer ATF6beta., [RefSeq, PubMed]; Loss of ATF6alpha in a human carcinoma cell line is compensated not by its paralogue ATF6beta but by sustained activation of the IRE1 and PERK arms for tumor growth in nude mice., [RefSeq, PubMed]; Polymorphism in the 3'-UTR of LIF but Not in the ATF6B Gene Associates with Schizophrenia Susceptibility: a Case-Control Study and In Silico Analyses., [RefSeq, PubMed]; Precursor of the transcription factor form (Processed cyclic AMP-dependent transcription factor ATF-6 beta), which is embedded in the endoplasmic reticulum membrane (PubMed:11256944). Endoplasmic reticulum stress promotes processing of this form, releasing the transcription factor form that translocates into the nucleus, where it activates transcription of genes involved in the unfolded protein response (UPR) (PubMed:11256944)., [UniProtKB, PubMed]; The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]., [RefSeq]; Transcription factor that acts in the unfolded protein response (UPR) pathway by activating UPR target genes induced during ER stress (PubMed:11256944). Binds DNA on the 5'-CCAC[GA]-3' half of the ER stress response element (ERSE) (5'-CCAATN(9)CCAC[GA]-3') when NF-Y is bound to ERSE (PubMed:11256944)., [UniProtKB, 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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "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": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 2, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B0UYX6;Q13269;Q14343;Q14345;Q5SSW7;Q99635;Q99637;Q9H3V9;Q9H3W1;Q9NPL0", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000976 transcription cis-regulatory region binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005794 Golgi apparatus", "go_biological_process": "GO:1903892 negative regulation of ATF6-mediated unfolded protein response;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007165 signal transduction;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q99941-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BPX5-1", "uniprot_id": [ { "id": "ARP5L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BPX5", "type": "external" } ], "mass": 16941.0, "length": 153, "protein_name": "Actin-related protein 2/3 complex subunit 5-like protein", "gene_name": "ARPC5L", "organism": "Human", "refseq_name": "actin-related protein 2/3 complex subunit 5-like protein", "refseq_ac": [ { "id": "NP_112240", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112240", "type": "external" } ], "gene_names_uniprotkb": "ARPC5L", "gene_names_refseq": "ARC16-2; ARPC5B; ARPC5L", "protein_names_uniprotkb": "Actin-related protein 2/3 complex subunit 5-like protein; ARC16-2; Arp2/3 complex 16 kDa subunit 2", "protein_names_refseq": "actin-related protein 2/3 complex subunit 5-like protein; arp2/3 complex 16 kDa subunit 2; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:81873)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "17081983;19651622;20068231;23186163;24366607;24714562;25418920;25502872;25576301;26154972;26728094;26992070;27846572;27920218;28218747;28228285;28510447;28904123;29242379;29331515;29393594;29437277;29557506;29632046;29786170;30315122;30379171;30410026;30429286;31154438;31530632;31844290;31848261;32157095;32265295;32350084;32488085;32502341;32938616;32983136;33298915;33968037;34087483;34171305;34357683;35154160;36010968;40596516", "class_list": "", "function": "May function as 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z523", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton;GO:0070062 extracellular exosome;GO:0030863 cortical cytoskeleton", "go_biological_process": "GO:0016477 cell migration;GO:0034314 Arp2/3 complex-mediated actin nucleation;GO:0030833 regulation of actin filament polymerization", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9BPX5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBK9-1", "uniprot_id": [ { "id": "AS3MT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBK9", "type": "external" } ], "mass": 41748.0, "length": 375, "protein_name": "Arsenite methyltransferase", "gene_name": "AS3MT", "organism": "Human", "refseq_name": "arsenite methyltransferase", "refseq_ac": [ { "id": "NP_065733", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065733", "type": "external" } ], "gene_names_uniprotkb": "AS3MT; CYT19", "gene_names_refseq": "AS3MT; CYT19", "protein_names_uniprotkb": "Arsenite methyltransferase; 2.1.1.137; Methylarsonite methyltransferase; S-adenosyl-L-methionine:arsenic(III) methyltransferase", "protein_names_refseq": "S-adenosyl-L-methionine:arsenic(III) methyltransferase; S-adenosylmethionine:arsenic (III) methyltransferase; arsenic (+3 oxidation state) methyltransferase; arsenite methyltransferase isoform; arsenite methyltransferase; methylarsonite methyltransferase; methyltransferase cyt19", "tax_id": 9606, "disease": "", "pathway": " (hsa:57412); (R-HSA-156581)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10331075;10514445;10644686;10978155;11511179;12163696;12590576;13981612;15788214;15808521;15929903;16267626;16385451;16407288;18334919;18539146;21193388;22005461;24275569;24734162;25997655;26992070;27570878;28832583;28834231;29242379;29331515;29493099;29508533;29557506;30379171;30833945;31154438;31844290;31848261;32157095;32938616;33592498;33717175;33936100;34171305;35051231;35226250;35580925;35719055;36284347;36681142;36940027;37658865;37938771;8968737;9175157;9586999", "class_list": "", "function": "A strong genetic association between polymorphisms of CYT19 and D:M ratio (urinary dimethylarsenic(V) to monomethylarsenic(V))in drinking water exposed Mexican children, not adults. GeneRIF: Observational study of gene-disease association and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM, Mar 2008]., [RefSeq]; AS3MT facilitates NLRP3 inflammasome activation by m[6]A modification during arsenic-induced hepatic insulin resistance., [RefSeq, PubMed]; Arsenic metabolism, N6AMT1 and AS3MT single nucleotide polymorphisms, and their interaction on gestational diabetes mellitus in Chinese pregnant women., [RefSeq, PubMed]; As3MT is related to relative RNAs and base modifications of p53 in workers exposed to arsenic., [RefSeq, PubMed]; Association between arsenic (+3 oxidation state) methyltransferase gene polymorphisms and arsenic methylation capacity in rural residents of northern China: a cross-sectional study., [RefSeq, PubMed]; Catalyzes the transfer of a methyl group from AdoMet to trivalent arsenicals producing methylated and dimethylated arsenicals (PubMed:16407288, PubMed:25997655). It methylates arsenite to form methylarsonate, Me-AsO(3)H(2), which is reduced by methylarsonate reductase to methylarsonite, Me-As(OH)2 (PubMed:16407288, PubMed:25997655). Methylarsonite is also a substrate and it is converted into the much less toxic compound dimethylarsinate (cacodylate), Me(2)As(O)-OH (PubMed:16407288, PubMed:25997655)., [UniProtKB, PubMed, PubMed]; Functional characterization of the schizophrenia associated gene AS3MT identifies a role in neuronal development., [RefSeq, PubMed]; Heterologous expression of rat AS3MT in human urothelial cells...confers capacity to methylate inorganic arsenic and alters its cytotoxicity and that of methylated arsenicals., [RefSeq, PubMed]; Inherited variation in AS3MT may contribute to variation in arsenic metabolism, [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": 1, "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": "A6NP79;Q0VDK3;Q0VDK4;Q5PZ02", "ec_number_list": [ { "id": "2.1.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.137", "type": "external" } ], "go_molecular_function": "GO:0030791 arsenite methyltransferase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0009404 toxin metabolic process;GO:0018872 arsonoacetate metabolic process;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9HBK9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCE6-1", "uniprot_id": [ { "id": "ARGAL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCE6", "type": "external" } ], "mass": 140379.0, "length": 1279, "protein_name": "Rho guanine nucleotide exchange factor 10-like protein", "gene_name": "ARHGEF10L", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 10-like protein isoform 2", "refseq_ac": [ { "id": "NP_001011722", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011722", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF10L; GRINCHGEF; KIAA1626", "gene_names_refseq": "ARHGEF10L; GrinchGEF", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 10-like protein; GrinchGEF", "protein_names_refseq": "Rho guanine nucleotide exchange factor (GEF) 10-like; rho guanine nucleotide exchange factor 10-like protein isoform 2; rho guanine nucleotide exchange factor 10-like protein", "tax_id": 9606, "disease": "ovarian serous carcinoma (Disease Ontology:DOID:0050933); ovarian endometrial cancer (Disease Ontology:DOID:6212)", "pathway": " (hsa:55160); (R-HSA-193648); (R-HSA-416482); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106)", "pathway_count": 6, "publication_count": 217, "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;15023524;15064355;15107133;15302923;15342493;15470142;15485661;15601624;15611138;15699075;15749160;15850391;15866170;15944396;15951850;16112081;16116428;16184169;16212495;16217026;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16923326;16959974;17077126;17198702;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18374420;18577758;18802007;18829452;18849993;19212140;19494238;19605563;19635168;19673492;19713215;19911011;20030946;20101212;20400958;20591975;20628200;20660154;21148482;21351730;21373644;21454492;21565175;21576392;21699497;21757538;21865595;21936715;22096251;22298643;22305756;22661716;22673745;22790947;22911862;22992742;23200924;23255595;23434736;23481700;23572525;23870313;24086303;24128008;24259668;24275569;24335996;24352656;24933155;25211221;25414122;25425145;25673874;25704760;26371245;26529257;26887924;27072905;27145964;27216196;27481945;27869121;27986909;28112683;28196833;28584191;29146911;29242379;29557506;29789417;29979793;30007591;30444969;30451992;31105010;31844290;31871319;32154766;32157095;32203420;32387766;32938616;32983136;34509645;35051231;35580925;36010968;36215666;39894887;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", "class_list": "", "function": "ARHGEF10L expression regulates cell proliferation and migration in gastric tumorigenesis., [RefSeq, PubMed]; Acts as a guanine nucleotide exchange factor (GEF) for RHOA, RHOB and RHOC., [UniProtKB, PubMed, UniProtKB, UniProtKB]; In intact cells, GrinchGEF induced specifically Rho activation and enhanced RhoA-C-specific downstream effects., [RefSeq, PubMed]; Increased expression of ARHGEF10L stimulates hepatocellular tumorigenesis by activating the RhoA-ROCK1- phospho Ezrin/Radixin/Moesin pathway and epithelial-mesenchymal transition., [RefSeq, PubMed]; Inherited variants in ARHGEF10L and AKAP6, with potential transcriptional regulatory function and association with Epithelial ovarian cancer risk, warrant investigation in independent Epithelial ovarian cancer study populations. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [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": 5, "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": "B7ZKS1;Q17RW1;Q3YFJ4;Q5VXI5;Q5VXI6;Q66K51;Q6P0L7;Q8NAV5;Q9NVT3", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0030036 actin cytoskeleton organization;GO:0051496 positive regulation of stress fiber assembly;GO:0032933 SREBP signaling pathway", "synthesized_glycan_count": 0, "hit_score": 22.0, "record_id": "Q9HCE6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZN5-1", "uniprot_id": [ { "id": "ARHGC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZN5", "type": "external" } ], "mass": 173232.0, "length": 1544, "protein_name": "Rho guanine nucleotide exchange factor 12", "gene_name": "ARHGEF12", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 12 isoform 2", "refseq_ac": [ { "id": "NP_001185594", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185594", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF12; KIAA0382; LARG", "gene_names_refseq": "ARHGEF12; LARG; PRO2792", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 12; Leukemia-associated RhoGEF", "protein_names_refseq": "KMT2A/ARHGEF12 fusion protein; Rho guanine nucleotide exchange factor (GEF) 12; leukemia-associated RhoGEF; leukemia-associated rho guanine nucleotide exchange factor; rho guanine nucleotide exchange factor 12 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23365); (R-HSA-193648); (R-HSA-416482); (R-HSA-416572); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148)", "pathway_count": 8, "publication_count": 368, "publication_id_list": "10037681;10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10619026;10652353;10681437;10699171;10699464;10724160;10873388;10873802;11007481;11018042;11058585;11085924;11094164;11149925;11207612;11237011;11283606;11294240;11306516;11313914;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11724822;11742120;11756498;11756552;11773441;11804587;11804589;11804590;11884391;11912491;11948177;12071859;12093360;12096337;12097334;12101119;12123608;12172552;12183458;12185584;12195014;12196628;12220504;12221077;12221096;12351724;12372594;12432077;12433842;12464619;12473120;12515866;12531887;12547822;12650940;12730235;12773384;12857875;12860998;12877655;12907671;14506234;14512443;14673001;15023524;15064355;15107133;15133129;15147912;15157669;15210733;15260990;15302923;15304341;15331592;15342493;15345747;15470142;15485661;15601624;15611138;15699075;15728722;15749160;15850391;15866170;15897194;15944396;15951850;16112081;16116428;16184169;16212495;16217026;16219803;16467373;16519628;16630611;16714282;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16923326;16968698;17064668;17077126;17145773;17151359;17196961;17198702;17214551;17244649;17525332;17562871;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18025083;18045877;18056264;18088087;18158243;18212344;18218625;18220336;18363964;18374420;18411422;18426980;18491316;18577758;18653540;18669648;18786931;18802007;18829452;18835169;18838382;18929667;19212140;19413330;19494238;19605563;19635168;19673492;19713215;19934221;20030946;20068231;20101212;20400958;20591975;20628200;20660154;20679435;20844236;21148482;21351730;21373644;21454492;21542010;21565175;21576392;21613211;21685891;21699497;21757538;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22424782;22461490;22571869;22608513;22661716;22673745;22790947;22911862;22970203;22992742;23186163;23200924;23255595;23406282;23434736;23572525;23718289;23870313;24086303;24128008;24259668;24275569;24335996;24352656;24584464;24715725;24933155;24996924;25024229;25211221;25414122;25425145;25576301;25645385;25673874;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26371245;26375851;26483157;26529257;26598554;26887924;26992070;27072905;27096001;27145964;27216196;27481945;27555588;27600516;27798618;27846572;27920218;27986909;28028151;28112683;28196833;28218747;28514659;28584191;28657654;28825699;28832583;28860633;28904123;29146911;29242379;29279389;29393594;29437277;29557506;29632046;29632711;2966156;29786170;30007591;30061681;30315122;30379171;30410026;30853411;31105010;31217245;31844290;31871319;32157095;32203420;32357974;32387766;32938616;33298915;33392160;33537174;33592498;33912179;33968037;33981976;34087483;34171305;34185709;34357683;34405274;34932366;35051231;35294066;35494241;35580925;36010968;36215666;36520365;37938771;3839510;40307207;7479768;7512369;7673236;7721814;7753201;7937899;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8670801;8702756;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8994827;9013646;9111050;9113980;9268338;9305890;9308960;9405671;9418861;9438849;9490638;9497316;9520479;9535835;9548756;9659915;9670022;9792683;9796816;9822605;9829970;9843499;9846874", "class_list": "", "function": "Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13 (PubMed:11094164). May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13) (PubMed:11094164). Promotes endothelial cell and actin stress fiber reorientation in response to mechanotransduction (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; ArhGEF12 activates Rap1A and not RhoA in human dermal microvascular endothelial cells to reduce tumor necrosis factor-induced leak., [RefSeq, PubMed]; Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]., [RefSeq]; Targeting ARHGEF12 promotes neuroblastoma differentiation, MYCN degradation, and reduces tumorigenicity. Erratum:[Cell Oncol (Dordr). 2023 Dec;46(6):1871-1872. doi: 10.1007/s13402-023-00890-x. PMID: 37843798], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "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": "O15086;Q6P526", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0001664 G protein-coupled receptor binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007015 actin filament organization;GO:0007186 G protein-coupled receptor signaling pathway;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0007266 Rho protein signal transduction;GO:0160221 Rho-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 37.2, "record_id": "Q9NZN5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHC3-1", "uniprot_id": [ { "id": "ASIC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHC3", "type": "external" } ], "mass": 58905.0, "length": 531, "protein_name": "Acid-sensing ion channel 3", "gene_name": "ASIC3", "organism": "Human", "refseq_name": "acid-sensing ion channel 3 isoform a", "refseq_ac": [ { "id": "NP_004760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004760", "type": "external" } ], "gene_names_uniprotkb": "ASIC3; ACCN3; DRASIC; SLNAC1; TNAC1", "gene_names_refseq": "ACCN3; ASIC3; DRASIC; SLNAC1; TNaC1", "protein_names_uniprotkb": "Acid-sensing ion channel 3; ASIC3; Amiloride-sensitive cation channel 3; Neuronal amiloride-sensitive cation channel 3; Testis sodium channel 1; hASIC3; hTNaC1", "protein_names_refseq": "acid sensing (proton gated) ion channel 3; acid-sensing ion channel 3 isoform a; acid-sensing ion channel 3; amiloride-sensitive cation channel 3, testis; modulatory subunit of ASIC2a; neuronal amiloride-sensitive cation channel 3; proton-gated cation channel subunit; testis sodium channel 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9311); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;10842183;11182090;11237011;11587714;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12907679;1379744;14584882;14634667;15010458;15044642;15044953;15147738;15317815;15318163;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17381423;17448995;17693683;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19620632;19808995;19953639;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22773952;22946059;2298749;23112050;2321095;23616951;2536303;26359375;26562072;28071645;28154142;28411811;28790369;33633747;34068557;34918385;35051231;35086123;39227705;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806;9886053", "class_list": "", "function": "Acid-sensing ion channel 3 is a new potential therapeutic target for the control of glioblastoma cancer stem cells growth. Publication Status: Online-Only, [RefSeq, PubMed]; Forms pH-gated heterotrimeric sodium channels that act as postsynaptic excitatory receptors in the nervous system (PubMed:10842183, PubMed:11587714, PubMed:9744806, PubMed:9886053). Upon extracellular acidification, these channels generate a biphasic current with a fast inactivating and a slow sustained phase (PubMed:10842183, PubMed:9744806, PubMed:9886053). ASIC3 is more sensitive to protons and gates between closed, open, and desensitized states faster than other ASICs (By similarity). Displays high selectivity for sodium ions but can also permit the permeation of other cations (PubMed:9744806, PubMed:9886053). As a neuronal acid sensor, probably contributes to mechanoreception, acid nociception, and heat nociception (By similarity). By forming heterotrimeric channels with ASIC2, generates a biphasic current with a fast inactivating and a slow sustained phase, which in sensory neurons is proposed to mediate the pain induced by acidosis that occurs in ischemic, damaged or inflamed tissues (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed]; Lysophosphatidylcholine 16:0 mediates chronic joint pain associated to rheumatic diseases through acid-sensing ion channel 3., [RefSeq, PubMed]; TRPV1 Responses in the Cerebellum Lobules VI, VII, VIII Using Electroacupuncture Treatment for Chronic Pain and Depression Comorbidity in a Murine Model. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]., [RefSeq]; Upregulation of acid sensing ion channels is associated with esophageal hypersensitivity in GERD., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 13, "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": "B2R9V0;O60263;O75906;Q59FN9;Q9UER8;Q9UHC4", "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:0022839 monoatomic ion-gated channel activity;GO:0005272 sodium channel activity;GO:0160128 pH-gated monoatomic ion channel activity;GO:0160125 pH-gated sodium channel activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0051899 membrane depolarization;GO:0035725 sodium ion transmembrane transport;GO:0050915 sensory perception of sour taste;GO:0050968 detection of chemical stimulus involved in sensory perception of pain", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q9UHC3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y574-1", "uniprot_id": [ { "id": "ASB4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y574", "type": "external" } ], "mass": 48195.0, "length": 426, "protein_name": "Ankyrin repeat and SOCS box protein 4", "gene_name": "ASB4", "organism": "Human", "refseq_name": "ankyrin repeat and SOCS box protein 4 isoform a", "refseq_ac": [ { "id": "NP_057200", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057200", "type": "external" } ], "gene_names_uniprotkb": "ASB4", "gene_names_refseq": "ASB-4; ASB4", "protein_names_uniprotkb": "Ankyrin repeat and SOCS box protein 4; ASB-4", "protein_names_refseq": "ankyrin repeat and SOCS box protein 4 isoform a; ankyrin repeat and SOCS box protein 4", "tax_id": 9606, "disease": "pre-eclampsia (Disease Ontology:DOID:10591)", "pathway": " (hsa:51666); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 137, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11111040;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;15601839;15652483;15688063;15694336;15799966;15929745;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;21955513;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24586788;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;27030794;27222660;27565346;27600516;28115426;29153394;29371260;30610225;32005965;32284348;33298915;33444648;34185709;39201703;39894887;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Based on its differential expression, neuroanatomical distribution and colocalisation, we hypothesise that rat Asb-4 is a gene involved in energy homeostasis., [RefSeq, PubMed]; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes differentiation and maturation of the vascular lineage by an oxygen-dependent mechanism (By similarity). Also acts as a negative regulator of GPS1, a component of the COP9 signalosome (CSN) multiprotein complex, thereby inhibiting the serine phosphorylation of IRS1 (By similarity). Regulates IRS4 levels by directing its degradation via ubiquitination and thereby decreases the downstream signal of IRS4 (PubMed:21955513). Plays a critical role during early vascular development and proper placentation. Mechanistically, negatively regulates the transcriptional regulator inhibitor of DNA binding 2/ID2 expression through polyubiquitination and proteasome dependent degradation (PubMed:24586788)., [UniProtKB, PubMed, UniProtKB, PubMed]; The Roles of Obesity and ASB4 in Preeclampsia Pathogenesis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq, Jul 2008]., [RefSeq]; This analysis identified an antigen, ASB4, which was processed and presented by a cancer stem cell (CSC) subset but not by non-CSCs. The ASB4 gene was expressed in CSCs of colorectal cancer, but not in cells that had differentiated into non-CSCs.ASB4 is a tumor-associated antigen that can elicit CTL responses specific to CSCs and can discriminate between two cellular subsets of colorectal 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": 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": "A4D1H6;O14586;Q14D68;Q8TBT2", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0031462 Cul2-RING ubiquitin ligase complex;GO:0031466 Cul5-RING ubiquitin ligase complex", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:2001214 positive regulation of vasculogenesis;GO:0051865 protein autoubiquitination", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "Q9Y574-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92572-1", "uniprot_id": [ { "id": "AP3S1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92572", "type": "external" } ], "mass": 21732.0, "length": 193, "protein_name": "AP-3 complex subunit sigma-1", "gene_name": "AP3S1", "organism": "Human", "refseq_name": "AP-3 complex subunit sigma-1 isoform 2", "refseq_ac": [ { "id": "NP_001002924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002924", "type": "external" } ], "gene_names_uniprotkb": "AP3S1; CLAPS3", "gene_names_refseq": "AP3S1; CLAPS3; Sigma3A", "protein_names_uniprotkb": "AP-3 complex subunit sigma-1; AP-3 complex subunit sigma-3A; Adaptor-related protein complex 3 subunit sigma-1; Clathrin-associated/assembly/adaptor protein, small 3; Sigma-3A-adaptin; Sigma-adaptin 3a; Sigma3A-adaptin", "protein_names_refseq": "AP-3 complex subunit sigma-1 isoform 2; AP-3 complex subunit sigma-1; adapter-related protein complex 3 subunit sigma-1; adaptor related protein complex 3 sigma 1 subunit; clathrin adaptor complex AP3, sigma-3A subunit; clathrin-associated/assembly/adapter protein, small 3; clathrin-associated/assembly/adaptor protein, small 3 (22kD); sigma-adaptin 3a", "tax_id": 9606, "disease": "", "pathway": " (hsa:1176); (R-HSA-432722)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10394364;11237011;11590181;11604418;11694590;11994746;15102850;16155256;17116749;20068231;20512086;23186163;25576301;28228285;28510447;28832583;28834231;28904123;29242379;29508533;29557506;29632711;30429286;31844290;32157095;32938616;32983136;33043033;33298915;33691108;33936100;33968037;33981976;34211107;35051231;35154160;36010968;36241641;36284347;37217939;37938771;8374173;8524399;8670264;8697810;9118953;9151686", "class_list": "", "function": "KCNQ and AP3S1, but not MAN2A1 or ALDH7A1 have a role in risk of type 2 diabetes in the Chinese Northern Han population GeneRIF: Observational study and meta-analysis of gene-disease association. (HuGE Navigator), [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. 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]; This gene encodes a subunit of the AP3 adaptor complex. This complex functions in the formation of subcellular vesicles budded from the Golgi body. Several related pseudogenes of this gene have been found. Alternative splicing results in multiple transcript variants encoding different isoforms. [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": 2, "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": "O00647;O00676;O00721;O00727;Q53XL4;Q6ICQ2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0030659 cytoplasmic vesicle membrane;GO:0030133 transport vesicle;GO:0030123 AP-3 adaptor complex", "go_biological_process": "GO:1903232 melanosome assembly;GO:0006886 intracellular protein transport;GO:0060155 platelet dense granule organization;GO:0008286 insulin receptor signaling pathway;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q92572-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UNK9-1", "uniprot_id": [ { "id": "ANGE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UNK9", "type": "external" } ], "mass": 75276.0, "length": 670, "protein_name": "RNA 2',3'-cyclic phosphatase ANGEL1", "gene_name": "ANGEL1", "organism": "Human", "refseq_name": "RNA 2',3'-cyclic phosphatase ANGEL1 isoform 4", "refseq_ac": [ { "id": "NP_056120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056120", "type": "external" } ], "gene_names_uniprotkb": "ANGEL1; KIAA0759", "gene_names_refseq": "ANGEL1; Ccr4e; KIAA0759", "protein_names_uniprotkb": "RNA 2',3'-cyclic phosphatase ANGEL1; 3.-.-.-", "protein_names_refseq": "RNA 2',3'-cyclic phosphatase ANGEL1 isoform 4; RNA 2',3'-cyclic phosphatase ANGEL1; protein angel homolog 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23357)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "11237011;17924679;23481700;23814182;24366607;24714562;25418920;25645385;26728094;26992070;27543614;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28904123;29242379;29437277;29493099;29557506;29786170;30429286;30524438;31844290;32157095;32387766;32502341;32732418;32897882;32938616;32983136;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34405274;34509645;35051231;35580925;36010968;36180430;40441874", "class_list": "", "function": "Exhibits weak RNA 2',3'-cyclic phosphatase, catalyzing the hydrolysis of RNA molecules with a 2',3'-cyclic phosphate at the 3' end to produce RNA with a linear 3'-phosphate group. Plays a role in the non-stop mRNA decay pathway (NSD), which specifically targets and degrades mRNAs that lack a proper stop codon., [UniProtKB, 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B4DWL7;O94859;Q8NCS9", "ec_number_list": [ { "id": "3.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.-.-.-", "type": "external" } ], "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0046872 metal ion binding;GO:0008190 eukaryotic initiation factor 4E binding;GO:0003730 mRNA 3'-UTR binding;GO:0160272 RNA 2',3'-cyclic phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005741 mitochondrial outer membrane;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0070481 nuclear-transcribed mRNA catabolic process, non-stop decay", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9UNK9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N957-1", "uniprot_id": [ { "id": "ANKF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N957", "type": "external" } ], "mass": 129670.0, "length": 1146, "protein_name": "Ankyrin repeat and fibronectin type-III domain-containing protein 1", "gene_name": "ANKFN1", "organism": "Human", "refseq_name": "ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_694960", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_694960", "type": "external" } ], "gene_names_uniprotkb": "ANKFN1", "gene_names_refseq": "ANKFN1; WAKE", "protein_names_uniprotkb": "Ankyrin repeat and fibronectin type-III domain-containing protein 1", "protein_names_refseq": "ankyrin repeat and fibronectin type-III domain-containing protein 1 isoform 2; ankyrin repeat and fibronectin type-III domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:162282)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;28005267", "class_list": "", "function": "ANKFN1 expression is significantly downregulated in human masticatory mucosa during wound healing, [RefSeq, PubMed]; May play a role in neuronal function., [UniProtKB, 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 27, "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": "A0A804HJ58", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005819 spindle", "go_biological_process": "GO:0000132 establishment of mitotic spindle orientation;GO:0061172 regulation of establishment of bipolar cell polarity", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8N957-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13928-1", "uniprot_id": [ { "id": "ANXA8_HUMAN", "url": "https://www.uniprot.org/uniprot/P13928", "type": "external" } ], "mass": 36881.0, "length": 327, "protein_name": "Annexin A8", "gene_name": "ANXA8", "organism": "Human", "refseq_name": "annexin A8 isoform 2", "refseq_ac": [ { "id": "NP_001035173", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035173", "type": "external" } ], "gene_names_uniprotkb": "ANXA8; ANX8", "gene_names_refseq": "ANX8; ANXA8; CH17-360D5.2", "protein_names_uniprotkb": "Annexin A8; Annexin VIII; Annexin-8; VAC-beta; Vascular anticoagulant-beta", "protein_names_refseq": "VAC-beta; annexin A8 isoform 2; annexin VIII; annexin-8; vascular anticoagulant-beta", "tax_id": 9606, "disease": "pancreatic ductal carcinoma (Disease Ontology:DOID:3587); cholangiocarcinoma (Disease Ontology:DOID:4947)", "pathway": " (hsa:653145); (hsa:728113)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "11237011;1313714;15644210;18669648;2530088;27862975;29786170;30833945;31154438;31474227;32157095;32387766;32488085;32938616;33592498;34171305;34671007;35051231;35318648;35580925;36215666;36284347;37464398", "class_list": "", "function": "ANXA8 was significantly highly expressed in ovarian cancer, and high ANXA8 expression was significantly correlated with poor prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; Potential prognostic and therapeutic value of ANXA8 in renal cell carcinoma: based on the comprehensive analysis of annexins family. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Jul 2008]., [RefSeq]; This protein is an anticoagulant protein that acts as an indirect inhibitor of the thromboplastin-specific complex, which is involved in the blood coagulation cascade., [UniProtKB]; [ANXA8 Regulates Proliferation of Human Non-Small Lung Cancer Cells A549 via EGFR-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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NDE6;A6NLM1;B4DKI1;B4DTC9;Q5T2P8;Q5VTM4;Q6GMY3;Q9BT34", "ec_number_list": [], "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0043325 phosphatidylinositol-3,4-bisphosphate binding;GO:0051015 actin filament binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0031902 late endosome membrane", "go_biological_process": "GO:0007596 blood coagulation;GO:0007032 endosome organization;GO:0016197 endosomal transport", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "P13928-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15327-1", "uniprot_id": [ { "id": "ANKR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15327", "type": "external" } ], "mass": 36252.0, "length": 319, "protein_name": "Ankyrin repeat domain-containing protein 1", "gene_name": "ANKRD1", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 1", "refseq_ac": [ { "id": "NP_055206", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055206", "type": "external" } ], "gene_names_uniprotkb": "ANKRD1; C193; CARP; HA1A2", "gene_names_refseq": "ALRP; ANKRD1; C-193; CARP; CVARP; MCARP; bA320F15.2", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 1; Cardiac ankyrin repeat protein; Cytokine-inducible gene C-193 protein; Cytokine-inducible nuclear protein", "protein_names_refseq": "ankyrin repeat domain 1 (cardiac muscle); ankyrin repeat domain-containing protein 1; cardiac ankyrin repeat protein; cytokine-inducible gene C-193 protein; cytokine-inducible nuclear protein; epididymis secretory sperm binding protein; liver ankyrin repeat domain 1", "tax_id": 9606, "disease": "hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); spinal muscular atrophy (Disease Ontology:DOID:12377); dilated cardiomyopathy (Disease Ontology:DOID:12930); nemaline myopathy (Disease Ontology:DOID:3191); congenital structural myopathy (Disease Ontology:DOID:422)", "pathway": " (hsa:27063); (R-HSA-1989781)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10777541;11267664;12054667;12118000;12177166;12505311;12582161;14583192;15067378;15130092;15635043;15805281;16380219;16972786;18273862;18540824;18719978;18848529;19088433;19710929;19934321;20110263;24196956;29242379;29331515;31154438;31844290;31848261;32157095;32488085;32938616;32983136;33592498;33968037;35051231;35580925;38396247;38438492;38475992;39285846;7685352;7730328;7892212;8647822;9012850;9748239", "class_list": "", "function": "ANKRD1 aggravates renal ischaemia-reperfusion injury via promoting TRIM25-mediated ubiquitination of ACSL3., [RefSeq, PubMed]; Cardiac ankyrin repeat protein, a negative regulator of cardiac gene expression, is augmented in human heart failure., [RefSeq, PubMed]; May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells., [UniProtKB, PubMed, PubMed]; Molecular characterization of ANKRD1 in rhabdomyosarcoma cell lines: expression, localization, and proteasomal degradation., [RefSeq, PubMed]; Nuclear AGO2 promotes myocardial remodeling by activating ANKRD1 transcription in failing hearts., [RefSeq, PubMed]; Pan-cancer integrated analysis of ANKRD1 expression, prognostic value, and potential implications in cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [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": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96LE7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0003714 transcription corepressor activity;GO:0042826 histone deacetylase binding;GO:0031432 titin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031674 I band", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010976 positive regulation of neuron projection development;GO:0043065 positive regulation of apoptotic process;GO:0071466 cellular response to xenobiotic stimulus", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q15327-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z5J8-1", "uniprot_id": [ { "id": "ANKAR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z5J8", "type": "external" } ], "mass": 162026.0, "length": 1434, "protein_name": "Ankyrin and armadillo repeat-containing protein", "gene_name": "ANKAR", "organism": "Human", "refseq_name": "ankyrin and armadillo repeat-containing protein", "refseq_ac": [ { "id": "NP_653309", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653309", "type": "external" } ], "gene_names_uniprotkb": "ANKAR", "gene_names_refseq": "ANKAR", "protein_names_uniprotkb": "Ankyrin and armadillo repeat-containing protein", "protein_names_refseq": "ankyrin and armadillo repeat-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:150709)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;15110750;23481700;28218747;28228285;30379171;31844290;32387766;32488085;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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 27, "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": "Q3ZCS6;Q4G0M2;Q6ZU02", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q7Z5J8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86XL3-1", "uniprot_id": [ { "id": "ANKL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86XL3", "type": "external" } ], "mass": 104114.0, "length": 938, "protein_name": "Ankyrin repeat and LEM domain-containing protein 2", "gene_name": "ANKLE2", "organism": "Human", "refseq_name": "ankyrin repeat and LEM domain-containing protein 2", "refseq_ac": [ { "id": "NP_055929", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055929", "type": "external" } ], "gene_names_uniprotkb": "ANKLE2; KIAA0692; LEM4", "gene_names_refseq": "ANKLE2; KIAA0692; LEMD7; Lem4; MCPH16", "protein_names_uniprotkb": "Ankyrin repeat and LEM domain-containing protein 2; LEM domain-containing protein 4", "protein_names_refseq": "LEM domain containing 7; LEM domain-containing protein 4; LEM-domain protein 4; ankyrin repeat and LEM domain-containing protein 2", "tax_id": 9606, "disease": "primary autosomal recessive microcephaly 16 (Disease Ontology:DOID:0070289); microcephaly (Disease Ontology:DOID:10907)", "pathway": " (hsa:23141); (R-HSA-2995383); (R-HSA-9013404); (R-HSA-9013408)", "pathway_count": 4, "publication_count": 154, "publication_id_list": "10523675;10652265;10847683;11145705;11149925;11237011;11689693;11704860;11864571;11919634;11967128;12177196;12376551;1464587;14675773;15023524;15133129;15169870;15542837;15814684;16081809;16243035;16243036;16339170;1660188;16777452;16964243;17027967;17060455;17081983;17158234;17214551;17269730;17698854;17765681;18056264;18191593;18220336;18452278;18628300;18662984;18669648;19581409;19620630;19651622;19664994;19713215;20068231;20576617;20679435;20711181;21151158;21378159;21406692;21621533;21795390;22544926;22734669;22770216;23186163;23255595;23481700;23757206;23870057;24275569;24623723;24659802;24714562;24715725;25259927;25418920;25576301;25645385;25862245;25880248;25892735;26016997;26154972;26728094;26992070;27481945;27600516;27846572;27862975;27875273;27920218;28196833;28218747;28228285;28514659;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30214071;30315122;30410026;30429286;30524438;30550790;31217245;31389670;31735666;31844290;31871319;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;34932366;35051231;35561310;35580925;35871307;36010968;36215666;36241641;36284347;36581221;37938771;7476457;7479768;8645157;8939998;9113980;9705280;9822605", "class_list": "", "function": "ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection., [RefSeq, PubMed]; By coordinating VRK-1- and PP2A-mediated signaling on BAF, Lem4 and LEM-4L (Y55F3BR.8) controls postmitotic nuclear envelope formation in a function conserved from worms to humans., [RefSeq, PubMed]; Involved in mitotic nuclear envelope reassembly by promoting dephosphorylation of BAF/BANF1 during mitotic exit (PubMed:22770216). Coordinates the control of BAF/BANF1 dephosphorylation by inhibiting VRK1 kinase and promoting dephosphorylation of BAF/BANF1 by protein phosphatase 2A (PP2A), thereby facilitating nuclear envelope assembly (PubMed:22770216). May regulate nuclear localization of VRK1 in non-dividing cells (PubMed:31735666). It is unclear whether it acts as a real PP2A regulatory subunit or whether it is involved in recruitment of the PP2A complex (PubMed:22770216). Involved in brain development (PubMed:25259927)., [UniProtKB, PubMed, PubMed, PubMed]; That NS4A, ANKLE2, VRK1, and LLGL1 define a pathway impinging on asymmetric determinants of neural stem cell division, [RefSeq, PubMed]; This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "reported_glycation": 0, "reported_snv": 9, "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": "A8KAG3;B3KN97;B3KSF8;O75176;Q6P6A5;Q8TAZ9;Q96DH4", "ec_number_list": [], "go_molecular_function": "GO:0019888 protein phosphatase regulator activity;GO:0004860 protein kinase inhibitor activity;GO:0051721 protein phosphatase 2A binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0051301 cell division;GO:0007417 central nervous system development;GO:0050790 regulation of catalytic activity;GO:0007084 mitotic nuclear membrane reassembly", "synthesized_glycan_count": 0, "hit_score": 15.5, "record_id": "Q86XL3-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZ07-1", "uniprot_id": [ { "id": "AN13A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZ07", "type": "external" } ], "mass": 67619.0, "length": 590, "protein_name": "Ankyrin repeat domain-containing protein 13A", "gene_name": "ANKRD13A", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 13A", "refseq_ac": [ { "id": "NP_149112", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149112", "type": "external" } ], "gene_names_uniprotkb": "ANKRD13A; ANKRD13", "gene_names_refseq": "ANKRD13A; ANKRD13; NY-REN-25", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 13A; Protein KE03", "protein_names_refseq": "NY-REN-25 antigen; ankyrin repeat domain-containing protein 13A", "tax_id": 9606, "disease": "", "pathway": " (hsa:88455)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11237011;15944288;22298428;23481700;23620728;24275569;24366607;25418920;25576301;26038114;26797118;26992070;27862975;28218747;28228285;28514659;28832583;28904123;29242379;29437277;29493099;29557506;29786170;30315122;30410026;30524438;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33592498;33633747;33691108;33912179;33968037;34357683;34509645;34561969;34694569;34839354;35051231;35251023;35561310;35580925;36010968", "class_list": "", "function": "ANKRD13a controls early cell-death checkpoint by interacting with RIP1 independent of NF-kappaB., [RefSeq, PubMed]; LncRNA USP30-AS1 promotes the survival of acute myeloid leukemia cells by cis-regulating USP30 and ANKRD13A., [RefSeq, PubMed]; 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]; The Ankrd13 family of ubiquitin-interacting motif (UIM)-containing proteins are novel VCP-interacting molecules in the endosome., [RefSeq, PubMed]; The microRNA miR-204 promotes both mesenchymal neural crest and lens cell migration and elongation by the direct targeting of the Ankrd13A gene. Publication Status: Online-Only, [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]; We validated ANKRD13A as a novel constituent of BCR signalosome and showed that BCR-induced phosphorylation of RAB7A at S72 regulates its association with its effector proteins and with endo-lysosomal compartments. 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": 4, "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": "O60736", "ec_number_list": [], "go_molecular_function": "GO:0140036 ubiquitin-modified protein reader activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0005770 late endosome;GO:0012505 endomembrane system", "go_biological_process": "GO:0002091 negative regulation of receptor internalization;GO:0048259 regulation of receptor-mediated endocytosis;GO:1905667 negative regulation of protein localization to endosome", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q8IZ07-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6S4-1", "uniprot_id": [ { "id": "AN13C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6S4", "type": "external" } ], "mass": 60818.0, "length": 541, "protein_name": "Ankyrin repeat domain-containing protein 13C", "gene_name": "ANKRD13C", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 13C", "refseq_ac": [ { "id": "NP_110443", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110443", "type": "external" } ], "gene_names_uniprotkb": "ANKRD13C", "gene_names_refseq": "ANKRD13C; dJ677H15.3", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 13C", "protein_names_refseq": "ankyrin repeat domain-containing protein 13C", "tax_id": 9606, "disease": "", "pathway": " (hsa:81573)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11230166;20959461;24715725;26811146;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29557506;30315122;31530632;31844290;31848261;32161166;32265295;32938616;33141586;33298915;33912179;33968037;34171305;35051231;36010968", "class_list": "", "function": "ANKRD13C acts as a molecular chaperone for G protein-coupled receptors, regulating their biogenesis and exit from the ER., [RefSeq, PubMed]; Acts as a molecular chaperone for G protein-coupled receptors, regulating their biogenesis and exit from the ER., [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": 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": "B3KQ97;Q5VYH4;Q5VYH5;Q6PJE4;Q9H0N9", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0140597 protein carrier chaperone", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0048471 perinuclear region of cytoplasm;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006612 protein targeting to membrane;GO:0071799 cellular response to prostaglandin D stimulus;GO:2000209 regulation of anoikis", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q8N6S4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NAG6-2", "uniprot_id": [ { "id": "ANKL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NAG6", "type": "external" } ], "mass": 66890.0, "length": 615, "protein_name": "Structure-specific endonuclease ANKLE1", "gene_name": "ANKLE1", "organism": "Human", "refseq_name": "structure-specific endonuclease ANKLE1 isoform 2", "refseq_ac": [ { "id": "NP_001265372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265372", "type": "external" } ], "gene_names_uniprotkb": "ANKLE1; ANKRD41; LEM3", "gene_names_refseq": "ANKLE1; ANKRD41; LEM3; LEMD6", "protein_names_uniprotkb": "Structure-specific endonuclease ANKLE1; 3.1.-.-; Ankyrin repeat and LEM domain-containing protein 1; Ankyrin repeat domain-containing protein 41; LEM-domain containing protein 3", "protein_names_refseq": "LEM domain containing 6; LEM-domain containing 3; ankyrin repeat and LEM domain-containing protein 1; ankyrin repeat domain-containing protein 41; structure-specific endonuclease ANKLE1 isoform 2; structure-specific endonuclease ANKLE1", "tax_id": 9606, "disease": "", "pathway": " (hsa:126549)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "20237496;20852631;20852633;22399800;23481700;24715725;25576301;26154972;27245214;27846572;27920218;28228285;28832583;28904123;29242379;29508533;29557506;31844290;32502341;32866453;32938616;33141586;33298915;33927264;33936100;33981976;34211107;35051231;36825683;37076474;37216589;41361016", "class_list": "", "function": "Ankle1 is conserved in metazoans and contains a unique C-terminal GIY-YIG motif that confers endonuclease activity in vitro and in vivo, [RefSeq, PubMed]; Biochemical and mechanistic analysis of the cleavage of branched DNA by human ANKLE1., [RefSeq, PubMed]; Dephosphocholination by Legionella effector Lem3 functions through remodelling of the switch II region of Rab1b. Publication Status: Online-Only, [RefSeq, PubMed]; Human Endonuclease ANKLE1 Localizes at the Midbody and Processes Chromatin Bridges to Prevent DNA Damage and cGAS-STING Activation., [RefSeq, PubMed]; Investigation of triple-negative breast cancer risk alleles in an International African-enriched cohort. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Erratum:[Nat Genet. 2016 Jan;48(1):101. doi: 10.1038/ng0116-101b. Brook-Wilson, Angela [corrected to Brooks-Wilson, Angela]. PMID: 26711112], [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Structure-selective DNA endonuclease that specifically cleaves branched DNA (PubMed:22399800, PubMed:27245214, PubMed:32866453, PubMed:36825683, PubMed:37216589). Processes chromatin bridges during cytokinesis by cleaving DNA, both priming TREX1-mediated resolution and directly resolving bridges (PubMed:36825683). Proper processing of chromatin bridges prevents their breakage during cytokinesis, thereby reducing DNA damage, micronuclei formation, and the activation of immune responses such as the cGAS-STING pathway (PubMed:36825683). Acts as a DNA tension sensor that resolves stretched chromatin bridges during cell division by cleaving mechanically stressed and supercoiled DNA (PubMed:41361016). Its activity increases in response to mechanical stress and negative supercoiling, specifically cleaving both strands of negatively supercoiled DNA at higher stretching forces (PubMed:41361016)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 11, "reported_glycation": 0, "reported_snv": 17, "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": "A8VU82;Q8N8J8", "ec_number_list": [], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0016787 hydrolase activity;GO:0030145 manganese ion binding;GO:0004519 endonuclease activity;GO:0004520 DNA endonuclease activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030496 midbody", "go_biological_process": "GO:0000712 resolution of meiotic recombination intermediates;GO:0051301 cell division;GO:0006974 DNA damage response;GO:0000724 double-strand break repair via homologous recombination;GO:0006611 protein export from nucleus", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q8NAG6-2", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92754-1", "uniprot_id": [ { "id": "AP2C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92754", "type": "external" } ], "mass": 49177.0, "length": 450, "protein_name": "Transcription factor AP-2 gamma", "gene_name": "TFAP2C", "organism": "Human", "refseq_name": "transcription factor AP-2 gamma", "refseq_ac": [ { "id": "NP_003213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003213", "type": "external" } ], "gene_names_uniprotkb": "TFAP2C", "gene_names_refseq": "AP2-GAMMA; ERF1; TFAP2C; TFAP2G; hAP-2g", "protein_names_uniprotkb": "Transcription factor AP-2 gamma; AP2-gamma; Activating enhancer-binding protein 2 gamma; Transcription factor ERF-1", "protein_names_refseq": "activating enhancer-binding protein 2 gamma; estrogen receptor factor 1; transcription factor AP-2 gamma; transcription factor ERF-1", "tax_id": 9606, "disease": "sleep disorder (Disease Ontology:DOID:535)", "pathway": " (hsa:7022); (R-HSA-3232118); (R-HSA-8866904); (R-HSA-8866906); (R-HSA-8866907); (R-HSA-8866910); (R-HSA-8866911); (R-HSA-9827857); (R-HSA-9834899); (R-HSA-9938206)", "pathway_count": 10, "publication_count": 100, "publication_id_list": "10497269;10648798;11237011;11694877;11744733;12072434;12356736;12419227;12586840;14744778;15247228;15475956;15494207;15507434;15548692;15870067;16698963;16781829;17283066;17998543;18374648;18617891;18669648;19115315;19318566;19413330;19664995;19744555;19798054;19843847;1998122;20016603;2010091;20209145;20547755;20581866;21084835;21098080;21375726;21406692;21900752;21965678;22022399;22371483;22735262;23186163;23382213;23417673;23684889;24390485;24413532;24782567;24835590;25114211;25218447;25543152;25576301;25772240;26073453;26154972;26189426;26308378;26832794;26992070;27935866;28985527;29091993;29713018;30590035;31222486;31530632;31844290;31848261;32127035;32157095;32387766;32938616;33470497;33608411;33968037;34065661;34087483;35051231;35318648;35411086;37169570;37191968;37217939;38243114;38717933;38789684;7891714;8661133;8895516;8988173;9113991;9162057;9182571;9687504;9850080", "class_list": "", "function": "CYP19A1 Expression Is Controlled by mRNA Stability of the Upstream Transcription Factor AP-2gamma in Placental JEG3 Cells., [RefSeq, PubMed]; Lineage regulators TFAP2C and NR5A2 function as bipotency activators in totipotent embryos., [RefSeq, PubMed]; Sequence-specific DNA-binding transcription factor that interacts with cellular enhancer elements to regulate transcription of selected genes, and which plays a key role in early embryonic development (PubMed:11694877, PubMed:24413532). AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions (PubMed:11694877, PubMed:24413532). TFAP2C plays a key role in early embryonic development by regulating both inner cell mass (ICM) and trophectoderm differentiation (By similarity). At the 8-cell stage, during morula development, controls expression of cell-polarity genes (By similarity). Upon trophoblast commitment, binds to late trophectoderm genes in blastocysts together with CDX2, and later to extra-embryonic ectoderm genes together with SOX2 (By similarity). Binds to both closed and open chromatin with other transcription factors (By similarity). Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer (PubMed:24413532)., [UniProtKB, PubMed, PubMed, UniProtKB]; TFAP2C exacerbates psoriasis-like inflammation by promoting Th17 and Th1 cells activation through regulating TEAD4 transcription. Publication Status: Online-Only, [RefSeq, PubMed]; TFAP2C inhibits cell autophagy to alleviate myocardial ischemia/reperfusion injury by regulating miR-23a-5p/SFRP5/Wnt5a axis., [RefSeq, PubMed]; Tead4 and Tfap2c generate bipotency and a bistable switch in totipotent embryos to promote robust lineage diversification., [RefSeq, PubMed]; The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [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": 2, "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": "B4DWK3;O00685;O00730;Q86V30;Q8IVB6;Q9P1X2", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor 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:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007267 cell-cell signaling;GO:0042127 regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q92754-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZV1-1", "uniprot_id": [ { "id": "ANKR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZV1", "type": "external" } ], "mass": 39859.0, "length": 360, "protein_name": "Ankyrin repeat domain-containing protein 2", "gene_name": "ANKRD2", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein 2 isoform b", "refseq_ac": [ { "id": "NP_001123453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123453", "type": "external" } ], "gene_names_uniprotkb": "ANKRD2; ARPP", "gene_names_refseq": "ANKRD2; ARPP", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein 2; Skeletal muscle ankyrin repeat protein; hArpp", "protein_names_refseq": "ankyrin repeat domain 2 (stretch responsive muscle); ankyrin repeat domain-containing protein 2 isoform b; ankyrin repeat domain-containing protein 2; skeletal muscle ankyrin repeat protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:26287)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10873377;11237011;11444853;11453652;14583192;15136035;15677738;21737686;22016770;24434510;25125175;25585647;27393496;33592498;36010968", "class_list": "", "function": "Functions as a negative regulator of myocyte differentiation. May interact with both sarcoplasmic structural proteins and nuclear proteins to regulate gene expression during muscle development and in response to muscle stress., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Report structure activity relationships for ANKRD2., [RefSeq, PubMed]; The Ankrd2 was found to be expressed in both the cytoplasm and nucleus, independently from maturation status of cardiomyocytes., [RefSeq, PubMed]; The orthologs of ANKRD2 in mouse and rat, which are also titin binding proteins, are stretch-response genes associated with slow muscle function and these proteins are part of a separate mechanotransduction system to the one that regulates muscle mass., [RefSeq, PubMed]; The results set the stage for investigation of the specific functions and interactions of the Ankrd2 isoforms in healthy and diseased human striated muscles., [RefSeq, PubMed]; This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q3B778;Q5T456;Q70EZ9;Q8WUD7;Q96MG0;Q9NQC9", "ec_number_list": [], "go_molecular_function": "GO:0008307 structural constituent of muscle;GO:0043422 protein kinase B binding;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0031674 I band;GO:0016605 PML body;GO:0000791 euchromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006936 muscle contraction;GO:0007517 muscle organ development;GO:0045662 negative regulation of myoblast differentiation", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9GZV1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPM8-1", "uniprot_id": [ { "id": "AP4E1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPM8", "type": "external" } ], "mass": 127287.0, "length": 1137, "protein_name": "AP-4 complex subunit epsilon-1", "gene_name": "AP4E1", "organism": "Human", "refseq_name": "AP-4 complex subunit epsilon-1 isoform 2", "refseq_ac": [ { "id": "NP_001239056", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239056", "type": "external" } ], "gene_names_uniprotkb": "AP4E1", "gene_names_refseq": "AP4E1; CPSQ4; SPG51; STUT1", "protein_names_uniprotkb": "AP-4 complex subunit epsilon-1; AP-4 adaptor complex subunit epsilon; Adaptor-related protein complex 4 subunit epsilon-1; Epsilon subunit of AP-4; Epsilon-adaptin", "protein_names_refseq": "AP-4 adaptor complex subunit epsilon; AP-4 complex subunit epsilon-1 isoform 2; adaptor related protein complex 4 epsilon 1 subunit; adaptor-related protein complex AP-4 epsilon; epsilon-adaptin", "tax_id": 9606, "disease": "stuttering (Disease Ontology:DOID:0060243); hereditary spastic paraplegia 51 (Disease Ontology:DOID:0110803)", "pathway": " (hsa:23431); (R-HSA-432720); (R-HSA-432722)", "pathway_count": 3, "publication_count": 66, "publication_id_list": "10066790;10394364;10436028;11139587;11237011;11333915;11409905;11590181;11604418;11694590;11994746;15102850;16155256;16867982;17116749;18669648;19559397;19651769;20068231;20230749;20708039;20972249;21620353;23186163;24715725;25576301;25892735;26154972;26542808;26544806;26811146;27657680;27846572;27920218;28832583;28855257;28904123;29242379;29769354;30779550;30833945;31844290;31848261;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33298915;33592498;33912179;33968037;34006278;34171305;34932366;35051231;38281682;8374173;8524399;8670264;9733768", "class_list": "", "function": "A new family with spastic paraplegia type 51 and novel mutations in AP4E1. Publication Status: Online-Only, [RefSeq, PubMed]; An autosomal recessive form of spastic tetraplegic cerebral palsy with profound intellectual disability, microcephaly, epilepsy and white matter loss in a consanguineous family resulting from a homozygous deletion involving AP4E1., [RefSeq, PubMed]; Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable)., [UniProtKB, PubMed, 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]; This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "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": "A0AVD6;A1L4A9;A6NNX7;H0YKX4;Q68D31;Q9Y588", "ec_number_list": [], "go_molecular_function": "GO:0140312 cargo adaptor activity", "go_cellular_component": "GO:0031904 endosome lumen;GO:0032588 trans-Golgi network membrane;GO:0005802 trans-Golgi network;GO:0030124 AP-4 adaptor complex;GO:0012505 endomembrane system", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006605 protein targeting;GO:0016192 vesicle-mediated transport;GO:0008104 intracellular protein localization", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9UPM8-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A1IGU5-1", "uniprot_id": [ { "id": "ARH37_HUMAN", "url": "https://www.uniprot.org/uniprot/A1IGU5", "type": "external" } ], "mass": 76278.0, "length": 675, "protein_name": "Rho guanine nucleotide exchange factor 37", "gene_name": "ARHGEF37", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 37", "refseq_ac": [ { "id": "NP_001001669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001669", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF37", "gene_names_refseq": "ARHGEF37", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 37", "protein_names_refseq": "Rho guanine nucleotide exchange factor (GEF) 37; rho guanine nucleotide exchange factor 37", "tax_id": 9606, "disease": "", "pathway": " (hsa:389337); (R-HSA-193648); (R-HSA-416482)", "pathway_count": 3, "publication_count": 44, "publication_id_list": "11237011;11283606;11294240;11313914;11742120;11756498;12097334;12101119;12123608;12433842;12515866;14673001;15470142;15699075;15749160;15951850;16212495;16923326;18374420;18577758;19212140;22661716;24715725;25414122;25576301;27072905;27862975;29557506;30007591;30429286;30926623;32938616;33912179;33981976;34185709;35051231;35494241;36284347;7937899;8617235;8816443;9308960;9520479;9796816", "class_list": "", "function": "ArhGEF37 was identified as a constituent of clathrin-mediated endocytosis: ArhGEF37 accumulated at dynamin 2-rich late endocytic sites. Endocytosis rates increased in the presence of ArhGEF37. Publication Status: Online-Only, [RefSeq, PubMed]; Probable guanine nucleotide exchange factor (GEF) involved in clathrin-mediated endocytosis, probably playing a role in the late stages of the process (PubMed:30926623)., [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": 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": "Q6ZW51", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0072583 clathrin-dependent endocytosis", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "A1IGU5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NK59-1", "uniprot_id": [ { "id": "ASB14_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NK59", "type": "external" } ], "mass": 65331.0, "length": 587, "protein_name": "Ankyrin repeat and SOCS box protein 14", "gene_name": "ASB14", "organism": "Human", "refseq_name": "ankyrin repeat and SOCS box protein 14 isoform 1", "refseq_ac": [ { "id": "NP_001136205", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136205", "type": "external" } ], "gene_names_uniprotkb": "ASB14", "gene_names_refseq": "ASB14", "protein_names_uniprotkb": "Ankyrin repeat and SOCS box protein 14; ASB-14", "protein_names_refseq": "ankyrin repeat and SOCS box protein 14 isoform 1; ankyrin repeat and SOCS box protein 14; ankyrin repeat domain-containing SOCS box protein Asb-14", "tax_id": 9606, "disease": "", "pathway": " (hsa:142686); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 130, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;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;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22706990;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;29153394;30610225;31844290;32005965;32284348;32983136;33444648;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Plays a role in the inhibition of cardiomyocyte nuclear proliferation by mediating the ubiquitination and degradation of MAPRE2., [UniProtKB, UniProtKB]; The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternative splicing results in multiple transcript variants encoding different isoforms.[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": 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": "C9JX97;Q8WXK2;Q92816", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "A6NK59-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11245-1", "uniprot_id": [ { "id": "ARY2_HUMAN", "url": "https://www.uniprot.org/uniprot/P11245", "type": "external" } ], "mass": 33571.0, "length": 290, "protein_name": "Arylamine N-acetyltransferase 2", "gene_name": "NAT2", "organism": "Human", "refseq_name": "arylamine N-acetyltransferase 2", "refseq_ac": [ { "id": "NP_000006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000006", "type": "external" } ], "gene_names_uniprotkb": "NAT2; AAC2", "gene_names_refseq": "AAC2; NAT-2; NAT2; PNAT", "protein_names_uniprotkb": "Arylamine N-acetyltransferase 2; 2.3.1.118; 2.3.1.5; Arylamide acetylase 2; N-acetyltransferase type 2; N-hydroxyarylamine O-acetyltransferase; NAT-2; PNAT; Polymorphic arylamine N-acetyltransferase", "protein_names_refseq": "N-acetyltransferase 2 (arylamine N-acetyltransferase); N-acetyltransferase type 2; N-hydroxyarylamine O-acetyltransferase; arylamide acetylase 2; arylamine N-acetyltransferase 2", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054); leukemia (Disease Ontology:DOID:1240); lung cancer (Disease Ontology:DOID:1324); Behcet's disease (Disease Ontology:DOID:13241); Parkinson's disease (Disease Ontology:DOID:14330); malignant mesothelioma (Disease Ontology:DOID:1790); pancreatic cancer (Disease Ontology:DOID:1793); transitional cell carcinoma (Disease Ontology:DOID:2671); asthma (Disease Ontology:DOID:2841); laryngeal squamous cell carcinoma (Disease Ontology:DOID:2876); pulmonary tuberculosis (Disease Ontology:DOID:2957); allergic contact dermatitis (Disease Ontology:DOID:3042); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); atopic dermatitis (Disease Ontology:DOID:3310); systemic scleroderma (Disease Ontology:DOID:418); occupational dermatitis (Disease Ontology:DOID:4404); cholangiocarcinoma (Disease Ontology:DOID:4947); progressive supranuclear palsy (Disease Ontology:DOID:678); end stage renal disease (Disease Ontology:DOID:783); lung disease (Disease Ontology:DOID:850); psoriasis (Disease Ontology:DOID:8893); systemic lupus erythematosus (Disease Ontology:DOID:9074); acute myeloid leukemia (Disease Ontology:DOID:9119); diabetes mellitus (Disease Ontology:DOID:9351); oral mucosa leukoplakia (Disease Ontology:DOID:9655); senile cataract (Disease Ontology:DOID:9669); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); acetylation, slow (MONDO:MONDO:0009472)", "pathway": " (hsa:10); (R-HSA-156582); (R-HSA-9753281)", "pathway_count": 3, "publication_count": 57, "publication_id_list": "10741631;10970160;11237011;11337936;11714888;12222688;12473676;1381364;1559981;16416399;16696573;1676262;17264801;17627974;17656365;17924658;18232020;18304320;18357469;19463;1968463;19842618;20190787;2068113;21666065;21712391;22349737;22406294;2340091;23517104;23682772;24449363;2573352;26049587;26067475;2734109;28380339;2924904;31848261;32472168;3395122;38131213;38287694;38836661;39085767;39531497;6950087;70646;7469630;7915226;7920692;8068562;8353847;8466518;8813074;9024171;9080", "class_list": "", "function": "Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates (PubMed:12222688, PubMed:7915226). Participates in the detoxification of a plethora of hydrazine and arylamine drugs, and is able to bioactivate several known carcinogens., [UniProtKB, PubMed, PubMed]; Drug-induced hepatotoxicity and association with slow acetylation variants NAT2*5 and NAT2*6 in Cameroonian patients with tuberculosis and HIV co-infection. Publication Status: Online-Only, [RefSeq, PubMed]; Influence of N-acetyltransferase 2 polymorphisms and clinical variables on liver function profile of tuberculosis patients., [RefSeq, PubMed]; LINC00520 promotes colorectal cancer progression through miRNA-195-3p / NAT2 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Relevance of NAT2 genotype and clinical factors to risk for antituberculosis drug-induced liver injury., [RefSeq, PubMed]; This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second polymorphic arylamine N-acetyltransferase gene (NAT1), is located near this gene (NAT2). [provided by RefSeq, Sep 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 29, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O43637;O60654;O60655;Q13146;Q16697;Q2MLE4;Q2MLF5;Q2MLG8;Q2MLJ6;Q2MLK4;Q2MLK6;Q2MLN7;Q6LET4;Q86XS0;Q86XS1;Q96KY8;Q96T64;Q96T65;Q9H220", "ec_number_list": [ { "id": "2.3.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.5", "type": "external" }, { "id": "2.3.1.118", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.118", "type": "external" } ], "go_molecular_function": "GO:0004060 arylamine N-acetyltransferase activity;GO:0019707 protein-cysteine S-acyltransferase activity;GO:0046990 N-hydroxyarylamine O-acetyltransferase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006805 xenobiotic metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "P11245-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18440-1", "uniprot_id": [ { "id": "ARY1_HUMAN", "url": "https://www.uniprot.org/uniprot/P18440", "type": "external" } ], "mass": 33899.0, "length": 290, "protein_name": "Arylamine N-acetyltransferase 1", "gene_name": "NAT1", "organism": "Human", "refseq_name": "arylamine N-acetyltransferase 1 isoform a", "refseq_ac": [ { "id": "NP_000653", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000653", "type": "external" } ], "gene_names_uniprotkb": "NAT1; AAC1", "gene_names_refseq": "AAC1; MNAT; NAT-1; NAT1; NATI", "protein_names_uniprotkb": "Arylamine N-acetyltransferase 1; 2.3.1.5; Arylamide acetylase 1; MNAT; Monomorphic arylamine N-acetyltransferase; N-acetyltransferase type 1; NAT-1", "protein_names_refseq": "N-acetyltransferase 1 (arylamine N-acetyltransferase); N-acetyltransferase type 1; arylamide acetylase 1; arylamine N-acetyltransferase 1 isoform a; monomorphic arylamine N-acetyltransferase", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); pancreatic cancer (Disease Ontology:DOID:1793); adenocarcinoma (Disease Ontology:DOID:299); allergic contact dermatitis (Disease Ontology:DOID:3042); lung non-small cell carcinoma (Disease Ontology:DOID:3908); occupational dermatitis (Disease Ontology:DOID:4404); end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:9); (R-HSA-156582); (R-HSA-9753281)", "pathway_count": 3, "publication_count": 72, "publication_id_list": "10741631;10862520;11237011;11714888;12473676;12946272;15226672;1559981;15853926;16416399;16696573;1676262;17627974;17656365;17924658;18232020;18357469;18452278;19463;1968463;19842618;20190787;21666065;21712391;22349737;22406294;2340091;23517104;23682772;2573352;25880248;26049587;26067475;27862975;28380339;29493099;29557506;30315122;30379171;31154438;31844290;32157095;32357974;32387766;32472168;32938616;32983136;33298915;33592498;33912179;3395122;33981976;34932366;35051231;35580925;36284347;38916406;6950087;70646;7469630;7585580;8068562;8353847;8442668;8813074;9024171;9080;9168895;9173883;9511182;9511183;9682272", "class_list": "", "function": "Exon-intron structure and tissue localization of the human NAT1 gene is described., [RefSeq, PubMed]; Identification of minimal promoter sequences for transcription factor binding sites in the human N-acetyltransferase Type I gene. that binds, [RefSeq, PubMed]; In breast, NAT1 mRNA is transcribed from a strong promoter located 11.8 kb upstream of the translated exon, and the mature spliced mRNA includes at least one additional non-coding exon., [RefSeq, PubMed]; NAT1 inhibits liver metastasis of colorectal cancer by regulating EMT and glycolysis., [RefSeq, PubMed]; Participates in the detoxification of a plethora of hydrazine and arylamine drugs. Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates and is able to bioactivate several known carcinogens., [UniProtKB]; This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. Multiple 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "reported_glycation": 0, "reported_snv": 0, "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": "A8K4E7;O15159;O15300;Q546N1;Q96TE9", "ec_number_list": [ { "id": "2.3.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.5", "type": "external" }, { "id": "2.3.1.118", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.118", "type": "external" } ], "go_molecular_function": "GO:0004060 arylamine N-acetyltransferase activity;GO:0019707 protein-cysteine S-acyltransferase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006805 xenobiotic metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "P18440-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94989-1", "uniprot_id": [ { "id": "ARHGF_HUMAN", "url": "https://www.uniprot.org/uniprot/O94989", "type": "external" } ], "mass": 91940.0, "length": 841, "protein_name": "Rho guanine nucleotide exchange factor 15", "gene_name": "ARHGEF15", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 15", "refseq_ac": [ { "id": "NP_079290", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079290", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF15; KIAA0915", "gene_names_refseq": "ARGEF15; ARHGEF15; BSVD5; E5; Ephexin5; Vsm-RhoGEF", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 15; E5; Ephexin-5; Vsm-RhoGEF", "protein_names_refseq": "Rho guanine nucleotide exchange factor (GEF) 15; ephexin-5; rho guanine nucleotide exchange factor 15", "tax_id": 9606, "disease": "brain small vessel disease 5 with osteoporosis (Disease Ontology:DOID:0061235)", "pathway": " (hsa:22899); (R-HSA-193648); (R-HSA-416482); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 6, "publication_count": 342, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10724160;10873388;10873802;10958683;11007481;11058585;11085924;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;11948177;11961559;12071859;12093360;12096337;12097334;12101119;12123608;12172552;12195014;12221077;12221096;12351724;12432077;12433842;12464619;12515866;12531887;12546821;12547822;12650940;12665586;12773384;12775584;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14673001;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15470142;15485661;15507211;15579468;15601624;15611138;15699075;15728722;15749160;15850391;15858067;15866170;15897194;15951850;16002401;16112081;16116428;16184169;16212495;16217026;16243036;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16923326;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18218625;18249095;18347018;18363964;18374420;18396277;18426980;18577758;18653540;18786931;18829452;18835169;18838382;18929667;19212140;19269969;19494238;19605563;19635168;19673492;19713215;19934221;20030946;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21029865;21148482;21351730;21454492;21542010;21565175;21613211;21685891;21699497;21730051;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22661716;22673745;22734669;22911862;22970203;22992742;23029280;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23647072;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24584464;24859002;24933155;24960694;24996924;25024229;25211221;25414122;25428919;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26371245;26529257;26598554;26887924;27072905;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27986909;28028151;28112683;28114311;28196833;28346227;28584191;28825699;28860633;29089502;29146911;29358323;29382922;29557506;30007591;30061681;30485813;30853411;31105010;31871319;32203420;35051231;36929019;7479768;7512369;7559638;7673236;7721814;7753201;7835339;7937899;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;9308960;9405671;9418861;9438849;9490638;9497316;9520479;9535835;9548756;9582072;9659915;9670022;9792683;9796816;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "Arhgef15 acts as an endothelial cell-specific GEF to mediate VEGF-induced Cdc42 activation and potentiate RhoJ inactivation, thereby promoting actin polymerization and cell motility., [RefSeq, PubMed]; Guanine nucleotide exchange factor (GEF) that activates RhoA, playing a role in the regulation of actin cytoskeleton organization (PubMed:36929019). Is involved in the regulation of vascular smooth muscle contractility (PubMed:12775584). Additionally, it negatively regulates excitatory synapse development by suppressing the synapse-promoting activity of EPHB2 (By similarity). Does not activate RAC1 or CDC42 (PubMed:36929019)., [UniProtKB, UniProtKB, PubMed, PubMed]; Pathological elevation of Ephexin5 expression critically drives Abeta-induced memory impairment, [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. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. Two alternatively spliced transcripts variants that encode the same protein have been found for this gene. [provided by RefSeq, Aug 2010]., [RefSeq]; This paper presents functional studies determined in rat, mouse, and human tissues and cell lines., [RefSeq, PubMed]; Upregulation of ARHGEF15 contributes to the development of aggressive PDAC by increasing the growth and motility of the pancreatic cancer cells, thereby worsening the prognosis of these patients. 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "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": "A8K6G1;Q8N449;Q9H8B4", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030425 dendrite", "go_biological_process": "GO:0032956 regulation of actin cytoskeleton organization;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0051496 positive regulation of stress fiber assembly;GO:0035025 positive regulation of Rho protein signal transduction;GO:2000297 negative regulation of synapse maturation", "synthesized_glycan_count": 0, "hit_score": 34.3, "record_id": "O94989-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15511-1", "uniprot_id": [ { "id": "ARPC5_HUMAN", "url": "https://www.uniprot.org/uniprot/O15511", "type": "external" } ], "mass": 16320.0, "length": 151, "protein_name": "Actin-related protein 2/3 complex subunit 5", "gene_name": "ARPC5", "organism": "Human", "refseq_name": "actin-related protein 2/3 complex subunit 5 isoform 2", "refseq_ac": [ { "id": "NP_001257368", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257368", "type": "external" } ], "gene_names_uniprotkb": "ARPC5; ARC16", "gene_names_refseq": "ARC16; ARPC5; IMD113; dJ127C7.3; p16-Arc", "protein_names_uniprotkb": "Actin-related protein 2/3 complex subunit 5; Arp2/3 complex 16 kDa subunit; p16-ARC", "protein_names_refseq": "Arp2/3 protein complex subunit p16; actin related protein 2/3 complex, subunit 5, 16kDa; actin-related protein 2/3 complex subunit 5 isoform 2; arp2/3 complex 16 kDa subunit", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); immunodeficiency 113 (Disease Ontology:DOID:0051056); candidiasis (Disease Ontology:DOID:1508); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908)", "pathway": " (hsa:10092); (R-HSA-2029482); (R-HSA-3928662); (R-HSA-5663213); (R-HSA-6798695); (R-HSA-8856828); (R-HSA-9664422)", "pathway_count": 7, "publication_count": 280, "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;11741539;11747816;11804587;11829459;11854399;11877457;11877461;11889126;12055636;12057195;12105426;12189515;12213210;12213833;12235133;12447393;12546821;12665801;12702722;12743368;12829704;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;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;22016387;2201922;22099461;22233676;22484487;22505844;22815487;22863004;23297414;23536704;23650620;23675550;23823722;23861397;23891661;24130457;24186068;24366607;24581490;24714562;24715725;2474607;24789820;24966051;25107275;25303366;25341920;25418920;25502872;25576301;25645385;25802875;25810538;26042225;26154972;26375851;26403691;26728094;26992070;27397612;27543614;27600516;27846572;27862975;27920218;28218747;28228285;28411811;28510447;28832583;28834231;28904123;29242379;29314611;29393594;29485866;29493099;29557506;29632046;29632711;29786170;29925947;30315122;30379171;30410026;30429286;31154438;31530632;31844290;31848261;32157095;32350084;32488085;32983136;33091337;33123756;33141586;33298915;33968037;34171305;34357683;34561969;34932366;35051231;35254053;35580925;36010968;36241641;36284347;37162507;37349293;37382373;37541260;37789267;37938771;38665916;38744388;40596516;6146630;7478585;7848918;7877694;8524399;8552632;8692836;8809042;8986718;9092476;9100026;9230079;9359840;9427626;9428629;9600938;9635431;9705280;9736607;9799231;9843499;9883880;9885284", "class_list": "", "function": "ARPC5 acts as a potential prognostic biomarker that is associated with cell proliferation, migration and immune infiltrate in gliomas. Publication Status: Online-Only, [RefSeq, PubMed]; ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality., [RefSeq, PubMed]; ARPC5 isoforms and their regulation by calcium-calmodulin-N-WASP drive distinct Arp2/3-dependent actin remodeling events in CD4 T cells. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9230079). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9230079). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:29925947). The Arp2/3 complex 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]; Functions as 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. Arp2/3 complex plays a critical role in the control of cell morphogenesis via the modulation of cell polarity development., [UniProtKB, UniProtKB]; Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling. 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]; This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p16 subunit, has yet to be determined. Alternatively spliced transcript variants encoding different 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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "A6NEC4;Q6PG42", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005200 structural constituent of cytoskeleton;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:0016477 cell migration;GO:0030036 actin cytoskeleton organization;GO:0034314 Arp2/3 complex-mediated actin nucleation;GO:0030833 regulation of actin filament polymerization", "synthesized_glycan_count": 0, "hit_score": 28.6, "record_id": "O15511-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43150-1", "uniprot_id": [ { "id": "ASAP2_HUMAN", "url": "https://www.uniprot.org/uniprot/O43150", "type": "external" } ], "mass": 111651.0, "length": 1006, "protein_name": "Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2", "gene_name": "ASAP2", "organism": "Human", "refseq_name": "arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 isoform b", "refseq_ac": [ { "id": "NP_001128663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128663", "type": "external" } ], "gene_names_uniprotkb": "ASAP2; DDEF2; KIAA0400", "gene_names_refseq": "AMAP2; ASAP2; CENTB3; DDEF2; PAG3; PAP; Pap-alpha; SHAG1", "protein_names_uniprotkb": "Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2; Development and differentiation-enhancing factor 2; PAG3; PAP; Paxillin-associated protein with ARF GAP activity 3; Pyk2 C-terminus-associated protein", "protein_names_refseq": "PYK2 C terminus-associated protein; arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 isoform b; arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2; centaurin, beta 3; development and differentiation-enhancing factor 2; paxillin-associated protein with ARF GAP activity 3; pyk2 C-terminus-associated protein", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); transient cerebral ischemia (Disease Ontology:DOID:224); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); amyloidosis (Disease Ontology:DOID:9120)", "pathway": " (hsa:8853)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "10022920;10749932;11237011;11304556;17081983;17322306;18088087;18669648;18707149;18767875;19415658;19651622;20068231;21406692;22299025;23186163;23481700;24715725;25576301;25645385;25892735;26154972;26992070;27397612;27600516;27862975;28832583;28834231;29242379;29393594;29493099;29557506;29769354;29786170;29789417;30315122;30429286;30484775;31844290;32157095;32357974;32488085;32938616;32983136;33298915;33537174;33592498;33605496;33912179;33968037;34087483;34185709;35051231;35318648;35580925;36010968;36215666;36284347;37938771;38665916;39531497", "class_list": "", "function": "Activates the small GTPases ARF1, ARF5 and ARF6. Regulates the formation of post-Golgi vesicles and modulates constitutive secretion. Modulates phagocytosis mediated by Fc gamma receptor and ARF6. Modulates PXN recruitment to focal contacts and cell migration., [UniProtKB, PubMed, PubMed, PubMed]; The novel driver gene ASAP2 is a potential druggable target in pancreatic cancer., [RefSeq, PubMed]; This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 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": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 26, "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": "D6W4Y8", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0046872 metal ion binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0032580 Golgi cisterna membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "O43150-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7Q2-1", "uniprot_id": [ { "id": "ARMS2_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7Q2", "type": "external" } ], "mass": 11437.0, "length": 107, "protein_name": "Age-related maculopathy susceptibility protein 2", "gene_name": "ARMS2", "organism": "Human", "refseq_name": "age-related maculopathy susceptibility protein 2", "refseq_ac": [ { "id": "NP_001093137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093137", "type": "external" } ], "gene_names_uniprotkb": "ARMS2", "gene_names_refseq": "ARMD8; ARMS2", "protein_names_uniprotkb": "Age-related maculopathy susceptibility protein 2", "protein_names_refseq": "age-related maculopathy susceptibility protein 2", "tax_id": 9606, "disease": "age related macular degeneration 8 (Disease Ontology:DOID:0110020)", "pathway": " (hsa:387715)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "16174643;16642439;16936732;16954704;17000705;17053108;17210852;17485225;17675241;17884985;18423869;18436811;18452766;18511946;19255159;27270414;29557506;36010968;36481221;36581531;36734065;37085233;37717737", "class_list": "", "function": "Associations of ARMS2 and NR3C2 genes polymorphisms with central serous chorioretinopathy in a Greek population., [RefSeq, PubMed]; Critical Dependence on Area in Relationship between ARMS2/HTRA1 Genotype and Faster Geographic Atrophy Enlargement: Age-Related Eye Disease Study 2 Report Number 33., [RefSeq, PubMed]; Disentangling the Impact of Reticular Pseudodrusen Phenotype and the ARMS2/HTRA1 Risk Allele in Geographic Atrophy: The AREDS 2 Study Report 32., [RefSeq, PubMed]; Exploring the contribution of ARMS2 and HTRA1 genetic risk factors in age-related macular degeneration. Review article, [RefSeq, PubMed]; Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk., [RefSeq, PubMed]; Our results strongly implicate a coding change (Ala69Ser) in the LOC387715 gene as the second major identified AMD-susceptibility allele, confirming earlier suggestions. This variant's effect on AMD is statistically independent of CFH ., [RefSeq, PubMed]; Results further support the notion that CFH (complement factor H) and LOC387715 genes are the major risk factors for ARMD., [RefSeq, PubMed]; Reticular Pseudodrusen Status, ARMS2/HTRA1 Genotype, and Geographic Atrophy Enlargement: Age-Related Eye Disease Study 2 Report 32., [RefSeq, PubMed]; This gene encodes a small secreted protein specific to primates. This protein is a component of the choroidal extracellular matrix of the eye. Mutations in this gene are associated with age-related macular degeneration. [provided by RefSeq, Sep 2017]., [RefSeq]; This work we show that ARMS2 is externalized via an unconventional pathway bypassing Golgi., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2Y7I5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0001917 photoreceptor inner segment", "go_biological_process": "GO:0001895 retina homeostasis", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "P0C7Q2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7U1-1", "uniprot_id": [ { "id": "ASA2B_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7U1", "type": "external" } ], "mass": 19025.0, "length": 165, "protein_name": "Putative inactive neutral ceramidase B", "gene_name": "ASAH2B", "organism": "Human", "refseq_name": "putative inactive neutral ceramidase B isoform 1", "refseq_ac": [ { "id": "NP_001072984", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072984", "type": "external" } ], "gene_names_uniprotkb": "ASAH2B; ASAH2C; ASAH2L", "gene_names_refseq": "ASAH2B; ASAH2C; ASAH2L; bA449O16.3; bA98I6.3", "protein_names_uniprotkb": "Putative inactive neutral ceramidase B; ASAH2-like protein; Putative inactive N-acylsphingosine amidohydrolase 2B; Putative inactive non-lysosomal ceramidase B", "protein_names_refseq": "ASAH2-like protein; N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B; putative inactive N-acylsphingosine amidohydrolase 2B; putative inactive neutral ceramidase B isoform 1; putative inactive neutral ceramidase B; putative inactive non-lysosomal ceramidase B", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700)", "pathway": " (hsa:653308)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;17334805;27846572;28832583;29242379;30429286;30484775;32157095;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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B7Z261", "ec_number_list": [], "go_molecular_function": "GO:0017040 N-acylsphingosine amidohydrolase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0046513 ceramide biosynthetic process;GO:0046512 sphingosine biosynthetic process;GO:0046514 ceramide catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "P0C7U1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35414-1", "uniprot_id": [ { "id": "APJ_HUMAN", "url": "https://www.uniprot.org/uniprot/P35414", "type": "external" } ], "mass": 42660.0, "length": 380, "protein_name": "Apelin receptor", "gene_name": "APLNR", "organism": "Human", "refseq_name": "apelin receptor", "refseq_ac": [ { "id": "NP_005152", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005152", "type": "external" } ], "gene_names_uniprotkb": "APLNR; AGTRL1; APJ", "gene_names_refseq": "AGTRL1; APJR; APJ; APLNR; HG11", "protein_names_uniprotkb": "Apelin receptor; Angiotensin receptor-like 1; G protein-coupled receptor APJ; G protein-coupled receptor HG11", "protein_names_refseq": "APJ (apelin) receptor; APJ receptor; G protein-coupled receptor APJ; G-protein coupled receptor HG11; HG11 orphan receptor; angiotensin II receptor-like 1; angiotensin receptor-like 1; apelin receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:187); (R-HSA-375276); (R-HSA-418594)", "pathway_count": 3, "publication_count": 120, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11007482;11090199;11322507;11385580;11457843;11562423;11683476;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18577758;22810587;23446738;23690594;24906252;2534964;25639753;2649896;2748346;27496565;28137936;2834384;28860189;28904123;31844290;3202875;32863206;3366244;3525564;35817871;37074911;37716179;37938771;38428423;38508477;3856870;38909500;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "(Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection; may be involved in the development of AIDS dementia (PubMed:11090199)., [UniProtKB, PubMed]; APLNR inhibited nasopharyngeal carcinoma growth and immune escape by downregulating PD-L1., [RefSeq, PubMed]; G protein-coupled receptor for peptide hormones apelin (APLN) and apelin receptor early endogenous ligand (APELA/ELA), that plays a role in the regulation of normal cardiovascular function and fluid homeostasis (PubMed:11090199, PubMed:22810587, PubMed:25639753, PubMed:28137936, PubMed:35817871, PubMed:38428423). When acting as apelin receptor, activates both G(i) protein pathway that inhibits adenylate cyclase activity, and the beta-arrestin pathway that promotes internalization of the receptor (PubMed:11090199, PubMed:25639753, PubMed:28137936, PubMed:35817871, PubMed:38428423). APLNR/APJ also functions as mechanoreceptor that is activated by pathological stimuli in a G protein-independent fashion to induce beta-arrestin signaling, hence eliciting cardiac hypertrophy (PubMed:22810587, PubMed:38428423). However, the presence of apelin ligand blunts cardiac hypertrophic induction from APLNR/APJ on response to pathological stimuli (PubMed:22810587, PubMed:38428423). Plays a key role in early development such as gastrulation, blood vessels formation and heart morphogenesis by acting as a APELA receptor (By similarity). May promote angioblast migration toward the embryonic midline, i.e. the position of the future vessel formation, during vasculogenesis (By similarity). Promotes sinus venosus (SV)-derived endothelial cells migration into the developing heart to promote coronary blood vessel development (By similarity). Also plays a role in various processes in adults such as regulation of blood vessel formation, blood pressure, heart contractility and heart failure (PubMed:25639753, PubMed:28137936)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; The regulatory effects of the apelin/APJ system on depression: A prospective therapeutic target. Review article, [RefSeq, PubMed]; The regulatory role of the apelin/APJ axis in scarring: Identification of upstream and downstream mechanisms., [RefSeq, PubMed]; This gene encodes a member of the G protein-coupled receptor gene family. The encoded protein is related to the angiotensin receptor, but is actually an apelin receptor that inhibits adenylate cyclase activity and plays a counter-regulatory role against the pressure action of angiotensin II by exerting hypertensive effect. It functions in the cardiovascular and central nervous systems, in glucose metabolism, in embryonic and tumor angiogenesis and as a human immunodeficiency virus (HIV-1) coreceptor. Two transcript variants resulting from alternative splicing have been identified. [provided by RefSeq, Jul 2009]., [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": 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": 22, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0008528 G protein-coupled peptide receptor activity;GO:0038023 signaling receptor activity;GO:0060182 apelin receptor activity;GO:0140897 mechanoreceptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0003171 atrioventricular valve development;GO:1903244 positive regulation of cardiac muscle hypertrophy in response to stress;GO:0035886 vascular associated smooth muscle cell differentiation;GO:0001525 angiogenesis;GO:0001570 vasculogenesis", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "P35414-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36404-1", "uniprot_id": [ { "id": "ARL2_HUMAN", "url": "https://www.uniprot.org/uniprot/P36404", "type": "external" } ], "mass": 20878.0, "length": 184, "protein_name": "ADP-ribosylation factor-like protein 2", "gene_name": "ARL2", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001186674", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186674", "type": "external" } ], "gene_names_uniprotkb": "ARL2", "gene_names_refseq": "ARFL2; ARL2; MRCS1", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 2", "protein_names_refseq": "ADP ribosylation factor like GTPase 2; ADP-ribosylation factor-like 2; ADP-ribosylation factor-like protein 2 isoform 2; ADP-ribosylation factor-like protein 2", "tax_id": 9606, "disease": "microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 (MONDO:MONDO:0033644)", "pathway": " (hsa:402); (R-HSA-389977); (R-HSA-83936); (R-HSA-9648002)", "pathway_count": 4, "publication_count": 147, "publication_id_list": "10085068;10085069;10455109;10488091;10667208;10831612;11032837;11038283;11120601;11196150;11303027;11585916;11739732;11809823;11847227;12433685;12727204;12750467;14561760;14660603;14966563;15146197;15448143;15451670;15659645;15701636;16000296;16043511;16483930;16525022;16873718;17322306;17452337;18182391;18234692;18502828;18588884;18669648;18940313;18981177;19188362;19368893;19413330;20068231;20416930;20418879;20622895;20740604;20802526;21170358;21661760;21779505;21905185;21905186;22002721;22144181;22179043;22195972;22589270;22721555;23514631;23698361;23943869;24033119;24725411;24911211;24971579;25550383;25713064;25759176;25781681;26085527;26154972;2648994;26590425;2661017;26701913;26706195;26771141;26824387;2682646;26992070;27094677;27396271;27410739;27600516;27666374;27697864;27791178;27846572;27920218;28167504;28218747;28228285;28630138;28666118;28778966;28832583;28834231;28904123;29311131;29393594;29424242;29437277;29557506;30315122;30429286;30524438;30779550;30833945;30945270;31217245;31530632;31844290;31848261;32157095;32488085;32502341;32877642;32897882;32938616;32983136;33298915;33592498;33968037;34171305;34357683;34932366;35051231;35318648;35567502;35580925;36241641;37938771;5840415;5857365;8415637;8986748;9124315;9265649;9435697;9436858;9478986;9587671;9810004;9822558;9851253", "class_list": "", "function": "ARL2 is required for homologous recombination repair and colon cancer stem cell survival., [RefSeq, PubMed]; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Regulates formation of new microtubules and centrosome integrity. Prevents the TBCD-induced microtubule destruction. Participates in association with TBCD, in the disassembly of the apical junction complexes. Antagonizes the effect of TBCD on epithelial cell detachment and tight and adherens junctions disassembly. Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. Component of a regulated secretory pathway involved in Ca(2+)-dependent release of acetylcholine. Required for normal progress through the cell cycle (PubMed:10831612, PubMed:16525022, PubMed:18234692, PubMed:18588884, PubMed:20740604). Also regulates mitochondrial integrity and function (PubMed:30945270)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [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": 13, "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": "G3V184;Q9BUK8", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0019003 GDP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0006110 regulation of glycolytic process;GO:0010811 positive regulation of cell-substrate adhesion;GO:0031113 regulation of microtubule polymerization;GO:0006457 protein folding;GO:1903715 regulation of aerobic respiration", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "P36404-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49703-1", "uniprot_id": [ { "id": "ARL4D_HUMAN", "url": "https://www.uniprot.org/uniprot/P49703", "type": "external" } ], "mass": 22156.0, "length": 201, "protein_name": "ADP-ribosylation factor-like protein 4D", "gene_name": "ARL4D", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 4D", "refseq_ac": [ { "id": "NP_001652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001652", "type": "external" } ], "gene_names_uniprotkb": "ARL4D; ARF4L", "gene_names_refseq": "ARF4L; ARL4D", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 4D; ADP-ribosylation factor-like protein 4L", "protein_names_refseq": "ADP ribosylation factor like GTPase 4D; ADP-ribosylation factor-like 4D; ADP-ribosylation factor-like protein 4D; ADP-ribosylation factor-like protein 4L", "tax_id": 9606, "disease": "", "pathway": " (hsa:379)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "10831612;12472661;17398095;22927989;25576301;26992070;27600516;27862975;28834231;29242379;29557506;29786170;30315122;30429286;30833945;31530632;31848261;32157095;32938616;33592498;33968037;33981976;34171305;35051231;35580925;35857868;36284347;7581362;7590735", "class_list": "", "function": "A portion of endogenous ARL4D and the GTP-binding-defective ARL4D mutant ARL4D(T35N) reside in the mitochondria, [RefSeq, PubMed]; ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. [provided by RefSeq, Jul 2021]., [RefSeq]; ARF4L 15-24 and ARF4L 69-77, possessed the ability to induce HLA-A2-restricted and tumor-reactive CTLs from peripheral blood mononuclear cells of patients with brain tumors, [RefSeq, PubMed]; Phosphorylation of Arl4A/D promotes their binding by the HYPK chaperone for their stable recruitment to the plasma membrane., [RefSeq, PubMed]; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). GTP-binding protein that does not act as an allosteric activator of the cholera toxin catalytic subunit. Recruits CYTH1, CYTH2, CYTH3 and CYTH4 to the plasma membrane in GDP-bound form., [UniProtKB, PubMed]; Study shows that three related Arf-like GTPases Arl4a, Arl4c, and Arl4d, are able to recruit ARNO and other cytohesins to the plasma membrane by binding to their PH domains irrespective of whether they are in the diglycine or triglycine form., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2RC59;D3DX43", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport;GO:0009306 protein secretion", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "P49703-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50553-1", "uniprot_id": [ { "id": "ASCL1_HUMAN", "url": "https://www.uniprot.org/uniprot/P50553", "type": "external" } ], "mass": 25454.0, "length": 236, "protein_name": "Achaete-scute homolog 1", "gene_name": "ASCL1", "organism": "Human", "refseq_name": "achaete-scute homolog 1", "refseq_ac": [ { "id": "NP_004307", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004307", "type": "external" } ], "gene_names_uniprotkb": "ASCL1; ASH1; BHLHA46; HASH1", "gene_names_refseq": "ASCL1; ASH1; HASH1; MASH1; bHLHa46", "protein_names_uniprotkb": "Achaete-scute homolog 1; ASH-1; Class A basic helix-loop-helix protein 46; bHLHa46; hASH1", "protein_names_refseq": "ASH-1; achaete scute protein; achaete-scute complex homolog 1; achaete-scute complex-like 1; achaete-scute homolog 1; class A basic helix-loop-helix protein 46", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); status epilepticus (Disease Ontology:DOID:1824)", "pathway": " (hsa:429); (R-HSA-9031628)", "pathway_count": 2, "publication_count": 139, "publication_id_list": "10203854;10381005;10611221;10611312;10656257;10734128;10826704;10872467;10882540;10903890;10984481;11018254;11027551;11280768;11331872;11343657;11567222;11755530;11840323;11956230;12399542;12511643;1377233;14522948;14597720;14969744;15102911;15161978;15449318;15542842;15620361;1570299;15733869;15836632;15880109;16034366;16136673;16187211;16221685;16260776;16287845;16339507;16407550;16484497;16574654;16732277;17088210;17088211;17088212;17632064;17898216;18056528;18088355;18160048;1833716;18456662;18524893;1861162;19061646;19116276;19193899;19194657;19926875;2017159;2040600;20506119;2052361;2072895;21057636;2109185;21326363;21486943;21621608;22053691;22065583;22302795;2237820;23481700;24060757;25248477;25569790;25748042;26018600;2676516;27041596;27128622;27220739;28076410;28275114;28286024;28832583;29242379;29559111;29632046;31154438;3127059;34509645;34932366;3672127;37958729;38039971;38287449;38726001;38780447;7551568;7592934;7595538;7608156;7624335;7777577;7823924;7857651;7871435;7876254;7923378;8090221;8090222;8248782;8390674;8413279;8483478;8576248;8583621;8668170;8756618;8846918;8918830;9032251;9084409;9343422;9390517;9418898;9622090;9722618;9770464;9774344;9808461;9822744;9858769", "class_list": "", "function": "ASCL1 Is Involved in the Pathogenesis of Schizophrenia by Regulation of Genes Related to Cell Proliferation, Neuronal Signature Formation, and Neuroplasticity. Publication Status: Online-Only, [RefSeq, PubMed]; ASCL1 induces neurogenesis in human Muller glia., [RefSeq, PubMed]; Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene., [RefSeq, PubMed]; Identification of molecular subtypes based on chromatin regulator-related genes and experimental verification of the role of ASCL1 in conferring chemotherapy resistance to breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor ASCL1 targets SLC6A13 to inhibit the progression of hepatocellular carcinoma via the glycine-inflammasome signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Transcription factor that plays a key role in neuronal differentiation: acts as a pioneer transcription factor, accessing closed chromatin to allow other factors to bind and activate neural pathways. Directly binds the E box motif (5'-CANNTG-3') on promoters and promotes transcription of neuronal genes. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Plays a role at early stages of development of specific neural lineages in most regions of the CNS, and of several lineages in the PNS. Essential for the generation of olfactory and autonomic neurons. Acts synergistically with FOXN4 to specify the identity of V2b neurons rather than V2a from bipotential p2 progenitors during spinal cord neurogenesis, probably through DLL4-NOTCH signaling activation. Involved in the regulation of neuroendocrine cell development in the glandular stomach (By similarity)., [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": "A8K3C4;Q9BQ30", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0046983 protein dimerization activity;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0043025 neuronal cell body;GO:0000785 chromatin;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007219 Notch signaling pathway;GO:0007507 heart development;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "P50553-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61160-1", "uniprot_id": [ { "id": "ARP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P61160", "type": "external" } ], "mass": 44761.0, "length": 394, "protein_name": "Actin-related protein 2", "gene_name": "ACTR2", "organism": "Human", "refseq_name": "actin-related protein 2 isoform a", "refseq_ac": [ { "id": "NP_001005386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005386", "type": "external" } ], "gene_names_uniprotkb": "ACTR2; ARP2", "gene_names_refseq": "ACTR2; ARP2", "protein_names_uniprotkb": "Actin-related protein 2; Actin-like protein 2", "protein_names_refseq": "ARP2 actin related protein 2 homolog; actin-like protein 2; actin-related protein 2 isoform a", "tax_id": 9606, "disease": "colorectal carcinoma (Disease Ontology:DOID:0080199); lung disease (Disease Ontology:DOID:850)", "pathway": " (hsa:10097); (R-HSA-2029482); (R-HSA-3928662); (R-HSA-5663213); (R-HSA-6798695); (R-HSA-8856828); (R-HSA-9664422)", "pathway_count": 7, "publication_count": 333, "publication_id_list": "10.1101/2023.09.13.557529;10219243;10496324;10501844;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;11741539;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;17158794;17188549;17202194;17220302;17308335;17440041;17494869;17512409;17540576;17548511;17609109;17681954;17762867;17765681;17978091;18070890;18093523;18388313;18391171;1847920;18725535;18790740;18981233;18991276;19092055;19287005;19296720;19458185;19536138;19553453;19575674;19603039;19608861;19696796;19713939;19741094;19776351;19809571;19955216;20033059;20059951;20068231;20211604;20231386;20428113;20448150;20826345;20946875;21037092;21136679;2115402;21187331;21278753;21316588;21419341;21445324;21482805;21499258;21613550;21779028;21841790;21872626;21883765;21927000;21927001;21962517;21993680;2201922;22099461;22125478;22233676;22484487;22505844;22544926;22645359;22815487;22863004;22898188;23297414;23481700;23536704;23650620;23675550;23823722;23861397;23891661;24130457;24186068;24366607;24397554;24581490;24715725;2474607;24789820;24966051;25107275;25303366;25341920;25418920;25576301;25601402;25645385;25810538;25880248;25892735;26042225;26154972;26375851;26403691;26758079;26811146;26929215;26992070;27397612;27452731;27600516;27846572;27862975;27872092;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28855257;28904123;29058690;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29925947;30315122;30379171;30410026;30484775;30524438;30779550;30833945;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;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35134569;35138101;35154160;35318648;35561310;35580925;36010968;36215666;36240223;36241641;36284347;36581221;37162507;37549294;37938771;37991368;38665916;39990658;40596516;40914422;6146630;7478585;7848918;7877694;8524399;8552632;8692836;8809042;8986718;9000076;9092476;9100026;9230079;9427626;9428629;9600938;9635431;9705280;9736607;9799231;9843499;9883880;9885284", "class_list": "", "function": "A familial 2p14 microdeletion disrupting actin-related protein 2 and Ras-related protein Rab-1A genes with intellectual disability and language impairment., [RefSeq, PubMed]; ARPC5 isoforms and their regulation by calcium-calmodulin-N-WASP drive distinct Arp2/3-dependent actin remodeling events in CD4 T cells. Publication Status: Online-Only, [RefSeq, PubMed]; ATP-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9000076). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9000076). Seems to contact the pointed end of the daughter actin filament (PubMed:9000076). In podocytes, required for the formation of lamellipodia downstream of AVIL and PLCE1 regulation (PubMed:29058690). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:17220302, PubMed:29925947). The Arp2/3 complex 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]; Interaction of species A rotavirus VP4 with the cellular proteins vimentin and actin related protein 2 discovered by a proximity interactome assay., [RefSeq, PubMed]; The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Transition State of Arp2/3 Complex Activation by Actin-Bound Dimeric Nucleation-Promoting Factor., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RCP5;D6W5F4;E9PF41;O15142;Q96C82", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005200 structural constituent of cytoskeleton;GO:0005524 ATP binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0060271 cilium assembly;GO:0034314 Arp2/3 complex-mediated actin nucleation;GO:0010592 positive regulation of lamellipodium assembly;GO:1905168 positive regulation of double-strand break repair via homologous recombination", "synthesized_glycan_count": 0, "hit_score": 34.1, "record_id": "P61160-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P68036-1", "uniprot_id": [ { "id": "UB2L3_HUMAN", "url": "https://www.uniprot.org/uniprot/P68036", "type": "external" } ], "mass": 17862.0, "length": 154, "protein_name": "Ubiquitin-conjugating enzyme E2 L3", "gene_name": "UBE2L3", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 L3 isoform 4", "refseq_ac": [ { "id": "NP_001243284", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243284", "type": "external" } ], "gene_names_uniprotkb": "UBE2L3; UBCE7; UBCH7", "gene_names_refseq": "E2-F1; L-UBC; UBCH7; UBE2L3; UbcM4", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 L3; 2.3.2.23; E2 ubiquitin-conjugating enzyme L3; L-UBC; UbcH7; Ubiquitin carrier protein L3; Ubiquitin-conjugating enzyme E2-F1; Ubiquitin-protein ligase L3", "protein_names_refseq": "E2 ubiquitin-conjugating enzyme L3; ubiquitin carrier protein L3; ubiquitin conjugating enzyme E2L 3; ubiquitin-conjugating enzyme E2 L3 isoform 4; ubiquitin-conjugating enzyme E2-F1; ubiquitin-conjugating enzyme UBCH7; ubiquitin-protein ligase L3", "tax_id": 9606, "disease": "", "pathway": " (hsa:7332); (R-HSA-5205685); (R-HSA-5357905); (R-HSA-5675482); (R-HSA-8866652); (R-HSA-8866654); (R-HSA-983168)", "pathway_count": 7, "publication_count": 261, "publication_id_list": "10521396;10558980;10562279;10760570;10837247;10888878;10966114;11062501;11098060;11181075;11237011;11237715;11278816;11350924;11427719;11577081;11740563;12167698;12612082;12646216;12709429;14716293;14734113;14978097;15024054;15215855;15215856;15224091;15224092;15258597;15367689;15571818;15870263;16142244;16282325;16307923;16427630;16595681;16682944;16709802;16829951;16829952;16849449;16868077;16954532;17003263;17108083;17130289;17314102;17580310;17597759;17644308;17702576;17726030;18178551;18316726;18353650;18359941;18446792;18477386;18570872;18662542;18719106;18946090;19028597;19208625;19278658;19289468;19340006;19352404;19410543;19416807;19432818;19452197;19489725;19608861;19723507;19851334;19874575;19910467;19940261;20061386;20126261;20185725;20219915;20304918;20385093;20712405;21115803;21194381;21203937;21235526;21329877;21396873;21408173;21532592;21554508;21617041;21737330;22021426;22179575;22297296;22424782;22435550;22496338;2261476;22645359;22848449;23301498;23313255;23719902;23746843;24098568;24246475;24323043;24660806;24662292;24715725;24726323;24726327;24751536;24784582;24807418;24979766;25030448;25170678;25474007;25527497;25565632;25632008;25645385;25852146;25936802;25996294;26086376;26116755;26154972;26210183;26216882;26235645;26344099;26344566;26350214;26365381;26711259;26768311;26775703;26866270;26900751;26933192;26992070;26997266;27035970;27247382;27307491;27458237;27545878;27552911;27569044;27591049;27597759;27798111;28228285;28506461;28510447;28661484;28832583;28904123;28920952;28920954;29242379;29314611;29394115;29493099;29557506;29632711;29642005;29786170;29883609;29883610;29930286;29995846;30146158;30192525;30361438;30420664;30524438;30770249;30988283;31031142;31138766;31217245;31358971;31366726;31511692;31844290;32157095;32296703;32320653;32350084;32387766;32897882;32983136;33043033;33141586;33392160;33469115;33592498;33691108;33717175;33836029;33912179;33936100;33968037;33981976;34019948;34087483;34162724;34171305;34357683;34363755;34405274;34725712;34876703;34932366;34999730;35051231;35154160;35251023;35294289;35318648;35561310;35580925;35941131;36215666;36241641;37001433;38226814;38287189;38301893;38605244;38656363;38665916;38795139;6277905;6305978;7531702;7667287;7851534;8010951;8144544;8563171;8576257;8625414;8991089;9049422;9065443;9380723;9521656;9668046;9693040", "class_list": "", "function": "Role of Ubiquitin-conjugating enzyme E2 (UBE2) in two immune-mediated inflammatory skin diseases: a mendelian randomization analysis. Publication Status: Online-Only, [RefSeq, PubMed]; The E3 ligase SMURF1 stabilizes p27 via UbcH7 catalyzed K29-linked ubiquitin chains to promote cell migration SMURF1-UbcH7 K29 ubiquitination of p27 and cell migration., [RefSeq, PubMed]; The membrane-associated ubiquitin ligase MARCHF8 stabilizes the human papillomavirus oncoprotein E7 by degrading CUL1 and UBE2L3 in head and neck cancer., [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 (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is demonstrated to participate in the ubiquitination of p53, c-Fos, and the NF-kB precursor p105 in vitro. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]., [RefSeq]; UBE2L3 expression in human gastric cancer and its clinical significance. Publication Status: Online-Only, [RefSeq, PubMed]; UBE2L3 regulates TLR7-induced B cell autoreactivity in Systemic Lupus Erythematosus., [RefSeq, PubMed]; Ubiquitin-conjugating enzyme E2 that specifically acts with HECT-type and RBR family E3 ubiquitin-protein ligases. Does not function with most RING-containing E3 ubiquitin-protein ligases because it lacks intrinsic E3-independent reactivity with lysine; in contrast, it has activity with the RBR family E3 enzymes, such as PRKN, RNF31 and ARIH1, that function like RING-HECT hybrids. Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Mediates ubiquitination by the CUL9-RBX1 complex (PubMed:38605244). In vitro catalyzes 'Lys-11'-linked polyubiquitination. Involved in the selective degradation of short-lived and abnormal proteins. Down-regulated during the S-phase it is involved in progression through the cell cycle. Regulates nuclear hormone receptors transcriptional activity. May play a role in myelopoiesis., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 8, "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": "B2R4A7;B4DDG1;B4DSZ4;E7EWS7;P51966;P70653;Q9HAV1", "ec_number_list": [ { "id": "6.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.45", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "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": "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": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "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": "2.3.2.36", "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:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0036211 protein modification process;GO:0006351 DNA-templated transcription;GO:0008283 cell population proliferation;GO:1903955 positive regulation of protein targeting to mitochondrion;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 26.4, "record_id": "P68036-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78540-1", "uniprot_id": [ { "id": "ARGI2_HUMAN", "url": "https://www.uniprot.org/uniprot/P78540", "type": "external" } ], "mass": 38578.0, "length": 354, "protein_name": "Arginase-2, mitochondrial", "gene_name": "ARG2", "organism": "Human", "refseq_name": "arginase-2, mitochondrial precursor", "refseq_ac": [ { "id": "NP_001163", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001163", "type": "external" } ], "gene_names_uniprotkb": "ARG2", "gene_names_refseq": "ARG2", "protein_names_uniprotkb": "Arginase-2, mitochondrial; 3.5.3.1; Arginase II; Kidney-type arginase; Non-hepatic arginase; Type II arginase", "protein_names_refseq": "L-arginine amidinohydrolase; L-arginine ureahydrolase; arginase II; arginase, type II; arginase-2, mitochondrial precursor; arginase-2, mitochondrial; kidney arginase; kidney-type arginase; non-hepatic arginase; nonhepatic arginase; type II arginase", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); asthma (Disease Ontology:DOID:2841); acute kidney failure (Disease Ontology:DOID:3021); ureteral obstruction (Disease Ontology:DOID:5199); end stage renal disease (Disease Ontology:DOID:783); hyperargininemia (Disease Ontology:DOID:9278)", "pathway": " (hsa:384); (R-HSA-70635); (R-HSA-9837999)", "pathway_count": 3, "publication_count": 83, "publication_id_list": "10369256;10813810;11237854;11923310;12198491;12459178;12807890;12859189;12948741;14623864;15050968;15522782;15870080;16115876;16141327;17101804;17297443;17407445;17496144;17579211;17900240;18263583;18323623;19006241;19754428;19841671;22076378;22262461;2263616;22710082;22928666;23201127;23649895;23832324;23931759;24315374;24520911;24703693;25484082;26504172;26592762;26923599;27214549;27496948;27642048;27745970;28377575;28396416;28614294;29242379;29301859;29557506;29932645;30120231;30524438;31154438;31327635;31695197;31844290;32938616;33257573;33298915;34171305;34704252;34943861;35870450;36629048;37203350;37727011;39116499;39236462;39430249;518841;6249820;6372096;7623837;7649538;8898077;8954792;9256072;9256435;9686347;9852088", "class_list": "", "function": "ARG2 knockdown promotes G0/G1 cell cycle arrest and mitochondrial dysfunction in adenomyosis via regulation NF-kappaB and Wnt/Beta-catenin signaling cascades., [RefSeq, PubMed]; Age-related genes USP2 and ARG2 are involved in the reduction of immune cell infiltration in elderly patients with rheumatoid arthritis., [RefSeq, PubMed]; Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exists (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type II isoform encoded by this gene, is located in the mitochondria and expressed in extra-hepatic tissues, especially kidney. The physiologic role of this isoform is poorly understood; it is thought to play a role in nitric oxide and polyamine metabolism. Transcript variants of the type II gene resulting from the use of alternative polyadenylation sites have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; HNF4A-AS1 inhibits the progression of hepatocellular carcinoma by promoting the ubiquitin-modulated degradation of PCBP2 and suppressing the stability of ARG2 mRNA. Publication Status: Online-Only, [RefSeq, PubMed]; Lactate-upregulated ARG2 expression induces cellular senescence in fibroblast-like synoviocytes of osteoarthritis via activating the mTOR/S6K1 signaling pathway., [RefSeq, PubMed]; May play a role in the regulation of extra-urea cycle arginine metabolism and also in down-regulation of nitric oxide synthesis. Extrahepatic arginase functions to regulate L-arginine bioavailability to nitric oxid synthase (NOS). Arginine metabolism is a critical regulator of innate and adaptive immune responses. Seems to be involved in negative regulation of the survival capacity of activated CD4(+) and CD8(+) T cells (PubMed:27745970). May suppress inflammation-related signaling in asthmatic airway epithelium (PubMed:27214549). May contribute to the immune evasion of H.pylori by restricting M1 macrophage activation and polyamine metabolism (By similarity). In fetal dendritic cells may play a role in promoting immune suppression and T cell TNF production during gestation (PubMed:28614294). Regulates RPS6KB1 signaling, which promotes endothelial cell senescence and inflammation and implicates NOS3/eNOS dysfunction (PubMed:22928666). Can inhibit endothelial autophagy independently of its enzymatic activity implicating mTORC2 signaling (PubMed:25484082). Involved in vascular smooth muscle cell senescence and apoptosis independently of its enzymatic activity (PubMed:23832324). Since NOS is found in the penile corpus cavernosum smooth muscle, the clitoral corpus cavernosum and the vagina, arginase-2 plays a role in both male and female sexual arousal (PubMed:12859189)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The lncRNA OIP5-AS1/miR-4500 axis targeting ARG2 modulates oxidative stress-induced premature senescence in endothelial cells: implications for vascular aging., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R690;Q6FHY8", "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": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "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": "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": "3.5.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.-", "type": "external" }, { "id": "3.5.3.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.17", "type": "external" }, { "id": "3.5.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.7", "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:0030145 manganese ion binding;GO:0004053 arginase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0032700 negative regulation of interleukin-17 production;GO:0032651 regulation of interleukin-1 beta production;GO:0045087 innate immune response;GO:0032720 negative regulation of tumor necrosis factor production;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "P78540-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07812-1", "uniprot_id": [ { "id": "BAX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07812", "type": "external" } ], "mass": 21184.0, "length": 192, "protein_name": "Apoptosis regulator BAX", "gene_name": "BAX", "organism": "Human", "refseq_name": "apoptosis regulator BAX isoform 1", "refseq_ac": [ { "id": "NP_001278357", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278357", "type": "external" } ], "gene_names_uniprotkb": "BAX; BCL2L4", "gene_names_refseq": "BAX; BCL2L4", "protein_names_uniprotkb": "Apoptosis regulator BAX; Bcl-2-like protein 4; Bcl2-L-4", "protein_names_refseq": "BCL2 associated X protein; BCL2-associated X protein omega; Baxdelta2(G8)-RFS protein; Baxdelta2G9omega; Baxdelta2G9; Baxdelta2omega; apoptosis regulator BAX isoform 1; apoptosis regulator BAX; bcl-2-like protein 4; bcl2-L-4", "tax_id": 9606, "disease": "rheumatic heart disease (Disease Ontology:DOID:0050827); pre-malignant neoplasm (Disease Ontology:DOID:0060071); brain glioma (Disease Ontology:DOID:0060108); prostate cancer (Disease Ontology:DOID:10283); prostate carcinoma (Disease Ontology:DOID:10286); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); heart disease (Disease Ontology:DOID:114); osteoporosis (Disease Ontology:DOID:11476); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); leiomyoma (Disease Ontology:DOID:127); ataxia telangiectasia (Disease Ontology:DOID:12704); 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); depressive disorder (Disease Ontology:DOID:1596); breast cancer (Disease Ontology:DOID:1612); glaucoma (Disease Ontology:DOID:1686); status epilepticus (Disease Ontology:DOID:1824); impotence (Disease Ontology:DOID:1875); post-traumatic stress disorder (Disease Ontology:DOID:2055); transient cerebral ischemia (Disease Ontology:DOID:224); colon adenocarcinoma (Disease Ontology:DOID:234); morphine dependence (Disease Ontology:DOID:2560); endometriosis (Disease Ontology:DOID:289); acute kidney failure (Disease Ontology:DOID:3021); teratoma (Disease Ontology:DOID:3307); middle cerebral artery infarction (Disease Ontology:DOID:3525); intermittent claudication (Disease Ontology:DOID:3669); cervical squamous cell carcinoma (Disease Ontology:DOID:3744); lung non-small cell carcinoma (Disease Ontology:DOID:3908); macular degeneration (Disease Ontology:DOID:4448); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); intestinal disease (Disease Ontology:DOID:5295); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); thyroiditis (Disease Ontology:DOID:7166); osteoarthritis (Disease Ontology:DOID:8398); retinal degeneration (Disease Ontology:DOID:8466); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352); acute myocardial infarction (Disease Ontology:DOID:9408); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); toxoplasmosis (Disease Ontology:DOID:9965)", "pathway": " (hsa:581); (R-HSA-111457); (R-HSA-111458); (R-HSA-111461); (R-HSA-111463); (R-HSA-111469); (R-HSA-114294); (R-HSA-5620971); (R-HSA-6803204); (R-HSA-6804114); (R-HSA-8878166); (R-HSA-9603505)", "pathway_count": 12, "publication_count": 218, "publication_id_list": "10228148;10524633;10629050;10772918;10807576;10929711;10972280;11030628;11060313;11084335;11106734;11136736;11140638;11230124;11237011;11242052;11257230;11257231;11259440;11462023;11511362;11574543;11684014;11734640;11857736;11912183;12176904;12391164;12402042;12434152;12434156;12606722;12624108;12660240;12732850;12941691;14729977;14766748;14960576;15004026;15004034;15023334;15030764;15071501;15126337;15186775;15273740;15525785;15574328;15607964;15642728;15650747;15735003;15851551;16113678;16199525;16227412;16407259;16509771;16679323;16709574;16772293;16897187;16946732;16964429;17142326;17171635;17172876;17349958;17525161;17719541;17724022;18223689;18362350;18521960;18617898;18619610;18948948;19144722;19182807;19377469;19696224;19859801;20068231;20112406;20300062;20460379;20976235;21199865;21458670;21695558;21769948;21913213;21949740;22065775;22334068;22544321;22766503;23055042;23235460;23348591;23365256;23485469;23521171;23684607;23783831;23931759;24096481;24113173;24715725;24850862;25080938;25230299;25313070;25418920;25502872;25576301;25609812;25892735;26071602;26375003;26508369;26763134;26811146;26929215;26991014;26992070;27281216;27383986;27418190;27558414;27697150;27862975;27920218;28045099;28063628;28192157;28218747;28392147;28459430;28832583;28834231;28904123;29177860;29242379;29290835;29393594;29493099;29531808;29539421;29557506;29632046;29769354;29891674;29898893;29987135;29990470;30122452;30143555;30315122;30524438;30693913;30779550;30833945;30976076;31113851;31690630;31723205;31844290;31848261;32109412;32157095;32161166;32188940;32265295;32350084;32357974;32367036;32387766;32820063;32897882;33230593;33298915;33531986;33717175;33936100;33968037;33981976;34019948;34171305;34185709;34229054;34932366;35051231;35250564;35580925;36241641;36361894;38241555;38342602;38503846;38665916;38830851;7475270;7607685;7784094;7834749;7973727;8358790;8521816;9182764;9207800;9230442;9267021;9390557;9531611;9659898;9920818", "class_list": "", "function": "Endogenous BAX and BAK form mosaic rings of variable size and composition on apoptotic mitochondria., [RefSeq, PubMed]; Lipid unsaturation promotes BAX and BAK pore activity during apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the mitochondrial apoptotic process (PubMed:10772918, PubMed:11060313, PubMed:16113678, PubMed:16199525, PubMed:18948948, PubMed:21199865, PubMed:21458670, PubMed:25609812, PubMed:36361894, PubMed:8358790, PubMed:8521816). Under normal conditions, BAX is largely cytosolic via constant retrotranslocation from mitochondria to the cytosol mediated by BCL2L1/Bcl-xL, which avoids accumulation of toxic BAX levels at the mitochondrial outer membrane (MOM) (PubMed:21458670). Under stress conditions, undergoes a conformation change that causes translocation to the mitochondrion membrane, leading to the release of cytochrome c that then triggers apoptosis (PubMed:10772918, PubMed:11060313, PubMed:16113678, PubMed:16199525, PubMed:18948948, PubMed:21199865, PubMed:21458670, PubMed:25609812, PubMed:8358790, PubMed:8521816). Promotes activation of CASP3, and thereby apoptosis (PubMed:10772918, PubMed:11060313, PubMed:16113678, PubMed:16199525, PubMed:18948948, PubMed:21199865, PubMed:21458670, PubMed:25609812, PubMed:8358790, PubMed:8521816)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Splicing Factor PQBP1 Curtails BAX Expression to Promote Ovarian Cancer Progression., [RefSeq, PubMed]; The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. The association and the ratio of BAX to BCL2 also determines survival or death of a cell following an apoptotic stimulus. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Dec 2019]., [RefSeq]; Value of Bax and Bcl2 expression in peripheral blood mononuclear cells for clinical prognosis of patients with chronic heart failure., [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": 11, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 48, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K4W1;P55269;Q07814;Q07815;Q8WZ49;Q9NR76;Q9NYG7;Q9UCZ6;Q9UCZ7;Q9UQD6", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0008289 lipid binding;GO:0015267 channel activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process;GO:0032091 negative regulation of protein binding;GO:0051881 regulation of mitochondrial membrane potential;GO:0097190 apoptotic signaling pathway", "synthesized_glycan_count": 0, "hit_score": 22.1, "record_id": "Q07812-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05089-1", "uniprot_id": [ { "id": "ARGI1_HUMAN", "url": "https://www.uniprot.org/uniprot/P05089", "type": "external" } ], "mass": 34735.0, "length": 322, "protein_name": "Arginase-1", "gene_name": "ARG1", "organism": "Human", "refseq_name": "arginase-1 isoform 2", "refseq_ac": [ { "id": "NP_000036", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000036", "type": "external" } ], "gene_names_uniprotkb": "ARG1", "gene_names_refseq": "ARG1", "protein_names_uniprotkb": "Arginase-1; 3.5.3.1; Liver-type arginase; Type I arginase", "protein_names_refseq": "arginase, liver; arginase-1 isoform 2; liver-type arginase; type I arginase", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); silicosis (Disease Ontology:DOID:10325); hypertension (Disease Ontology:DOID:10763); uveitis (Disease Ontology:DOID:13141); cholestasis (Disease Ontology:DOID:13580); asthma (Disease Ontology:DOID:2841); acute kidney failure (Disease Ontology:DOID:3021); liver disease (Disease Ontology:DOID:409); ureteral obstruction (Disease Ontology:DOID:5199); hepatocellular carcinoma (Disease Ontology:DOID:684); hyperargininemia (Disease Ontology:DOID:9278)", "pathway": " (hsa:383); (R-HSA-6798695); (R-HSA-70635); (R-HSA-9956514)", "pathway_count": 4, "publication_count": 89, "publication_id_list": "10369256;10502833;10813810;11237011;11237854;12459178;12807890;12859189;12948741;1463019;15050968;15546957;1598908;16075062;16141327;16709924;17407445;17469833;17496144;17562323;17900240;18263583;18323623;18802628;19006241;19380772;19754428;20166139;20301338;21728378;22076378;2241902;2263616;22959135;23649895;23650620;23719902;23749634;23859858;24275569;24703693;24715725;26374642;26375851;26592762;27043409;27452731;27862975;28514659;28813417;29393594;29399404;29508533;29557506;29786170;30379171;30397120;30524438;30833945;31222486;3174433;31844290;32938616;32983136;33912179;34019948;34078123;34171305;34357683;35051231;3540966;35561310;35580925;37938771;37996700;38369188;38374190;38665916;39253969;41018975;518841;6249820;6372096;7649538;8692836;8898077;9256435;9686347;9852088", "class_list": "", "function": "Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]., [RefSeq]; Arginase-induced cell death pathways and metabolic changes in cancer cells are not altered by insulin. Publication Status: Online-Only, [RefSeq, PubMed]; DDR2-regulated arginase activity in ovarian cancer-associated fibroblasts promotes collagen production and tumor progression., [RefSeq, PubMed]; Emergence of dysfunctional neutrophils with a defect in arginase-1 release in severe COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]; Functions in L-arginine homeostasis in nonhepatic tissues characterized by the competition between nitric oxide synthase (NOS) and arginase for the available intracellular substrate arginine. Arginine metabolism is a critical regulator of innate and adaptive immune responses. Involved in an antimicrobial effector pathway in polymorphonuclear granulocytes (PMN). Upon PMN cell death is liberated from the phagolysosome and depletes arginine in the microenvironment leading to suppressed T cell and natural killer (NK) cell proliferation and cytokine secretion (PubMed:15546957, PubMed:16709924, PubMed:19380772). In group 2 innate lymphoid cells (ILC2s) promotes acute type 2 inflammation in the lung and is involved in optimal ILC2 proliferation but not survival (By similarity). In humans, the immunological role in the monocytic/macrophage/dendritic cell (DC) lineage is unsure., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Key element of the urea cycle converting L-arginine to urea and L-ornithine, which is further metabolized into metabolites proline and polyamides that drive collagen synthesis and bioenergetic pathways critical for cell proliferation, respectively; the urea cycle takes place primarily in the liver and, to a lesser extent, in the kidneys., [UniProtKB]; Quantitative Multiplexed Analysis of Indoleamine 2,3-Dioxygenase (IDO) and Arginase-1 (ARG1) Expression and Myeloid Cell Infiltration in Colorectal 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 12, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NEA0;Q5JWT5;Q5JWT6;Q8TE72;Q9BS50", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "4.6.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.19", "type": "external" }, { "id": "3.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.24", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "1.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.11.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.2.2", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.22", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.2.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.52", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "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": "2.3.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.155", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "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": "1.4.3.22", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.22", "type": "external" }, { "id": "1.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.-", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "3.5.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.26", "type": "external" }, { "id": "3.4.24.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.34", "type": "external" }, { "id": "3.4.21.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.76", "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": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.1.6.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.4", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "3.2.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.14", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "6.3.4.21", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.21", "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": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "3.2.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.18", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.5.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.-", "type": "external" }, { "id": "3.5.3.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.17", "type": "external" }, { "id": "3.5.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.7", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "3.5.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.3", "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": "3.2.1.166", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.166", "type": "external" }, { "id": "3.5.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.15", "type": "external" } ], "go_molecular_function": "GO:0030145 manganese ion binding;GO:0004053 arginase activity;GO:0046872 metal ion binding;GO:0016813 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045087 innate immune response;GO:0042130 negative regulation of T cell proliferation;GO:0002250 adaptive immune response;GO:0000050 urea cycle;GO:0042832 defense response to protozoan", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "P05089-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15553-2", "uniprot_id": [ { "id": "MEFV_HUMAN", "url": "https://www.uniprot.org/uniprot/O15553", "type": "external" } ], "mass": 86444.0, "length": 781, "protein_name": "Pyrin", "gene_name": "MEFV", "organism": "Human", "refseq_name": "pyrin isoform 1", "refseq_ac": [ { "id": "NP_000234", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000234", "type": "external" } ], "gene_names_uniprotkb": "MEFV; MEF; TRIM20", "gene_names_refseq": "FMF; MEFV; MEF; PAAND; TRIM20", "protein_names_uniprotkb": "Pyrin; Marenostrin", "protein_names_refseq": "MEFV innate immuity regulator, pyrin; MEFV, pyrin innate immunity regulator; Mediterranean fever; marenostrin; pyrin isoform 1; pyrin", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); Sweet syndrome (Disease Ontology:DOID:0080746); IgA vasculitis (Disease Ontology:DOID:11123); asthma (Disease Ontology:DOID:2841); familial Mediterranean fever (Disease Ontology:DOID:2987); lung disease (Disease Ontology:DOID:850); acute myeloid leukemia (Disease Ontology:DOID:9119); multiple myeloma (Disease Ontology:DOID:9538); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:4210); (R-HSA-844456); (R-HSA-9660826)", "pathway_count": 3, "publication_count": 88, "publication_id_list": "10024914;10090880;10234504;10364520;10612841;10666224;10737995;10787449;10807793;10842288;10854105;11115844;11157473;11313357;11464238;11468188;11470495;11498534;11786556;11967258;12124996;12191486;12384939;12615073;14595024;14679589;14761955;15024744;16037825;16378925;16730661;16785446;17036048;17349957;17431422;17435760;17603038;17703304;17964261;18577712;19109554;19570822;19584923;19729025;19755381;20023662;20303873;2182768;22942567;23031807;23505238;23817414;23878142;24714562;24929125;26116704;26347139;26549800;26992070;27030597;27862975;28832583;28835462;29351928;29393594;29557506;29712950;30315122;30833945;31589380;32387766;32601469;32938616;32983136;34509645;35051231;35580925;36215666;38253038;38482581;38818540;39042260;39262262;450099;9023774;9288094;9288758;9668175", "class_list": "", "function": "Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced glaucoma risk for Turkish population: a prospective clinical analysis., [RefSeq, PubMed]; Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma (PubMed:10807793, PubMed:11468188, PubMed:16037825, PubMed:16785446, PubMed:17431422, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923, PubMed:26347139, PubMed:27030597, PubMed:28835462). Organizes autophagic machinery by serving as a platform for the assembly of ULK1, Beclin 1/BECN1, ATG16L1, and ATG8 family members and recognizes specific autophagy targets, thus coordinating target recognition with assembly of the autophagic apparatus and initiation of autophagy (PubMed:16785446, PubMed:17431422, PubMed:26347139). Acts as an autophagy receptor for the degradation of several inflammasome components, including CASP1, NLRP1 and NLRP3, hence preventing excessive IL1B- and IL18-mediated inflammation (PubMed:16785446, PubMed:17431422, PubMed:26347139). However, it can also have a positive effect in the inflammatory pathway, acting as an innate immune sensor that triggers PYCARD/ASC specks formation, caspase-1 activation, and IL1B and IL18 production (PubMed:16037825, PubMed:27030597, PubMed:28835462). Together with AIM2, also acts as a mediator of pyroptosis, necroptosis and apoptosis (PANoptosis), an integral part of host defense against pathogens, in response to bacterial infection (By similarity). It is required for PSTPIP1-induced PYCARD/ASC oligomerization and inflammasome formation (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923). Recruits PSTPIP1 to inflammasomes, and is required for PSTPIP1 oligomerization (PubMed:10807793, PubMed:11468188, PubMed:17964261, PubMed:18577712, PubMed:19109554, PubMed:19584923)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Molecular analyses of MEFV gene mutation variants in Turkish population. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular investigation of MEFV gene polymorphisms among patients with familial mediterranean fever-like symptoms. Publication Status: Online-Only, [RefSeq, PubMed]; The significance of carrying MEFV variants in symptomatic and asymptomatic individuals. Review article, [RefSeq, PubMed]; These results declare MEFV to be the first auto-inflammatory gene regulated by nonsense-mediated decay., [RefSeq, PubMed]; This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [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": 10, "reported_glycation": 0, "reported_snv": 38, "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": "D3DUC0;F5H0Q3;Q3MJ84;Q96PN4;Q96PN5", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule;GO:0005886 plasma membrane", "go_biological_process": "GO:0002221 pattern recognition receptor signaling pathway;GO:0032651 regulation of interleukin-1 beta production;GO:0006954 inflammatory response;GO:0045087 innate immune response;GO:0032691 negative regulation of interleukin-1 beta production", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "O15553-2", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13112-1", "uniprot_id": [ { "id": "CAF1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13112", "type": "external" } ], "mass": 61493.0, "length": 559, "protein_name": "Chromatin assembly factor 1 subunit B", "gene_name": "CHAF1B", "organism": "Human", "refseq_name": "chromatin assembly factor 1 subunit B", "refseq_ac": [ { "id": "NP_005432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005432", "type": "external" } ], "gene_names_uniprotkb": "CHAF1B; CAF1A; CAF1P60; MPHOSPH7; MPP7", "gene_names_refseq": "CAF-1; CAF-IP60; CAF1A; CAF1P60; CAF1; CHAF1B; MPHOSPH7; MPP7", "protein_names_uniprotkb": "Chromatin assembly factor 1 subunit B; CAF-1 subunit B; CAF-I 60 kDa subunit; CAF-I p60; Chromatin assembly factor I p60 subunit; M-phase phosphoprotein 7", "protein_names_refseq": "CAF-1 subunit B; CAF-I 60 kDa subunit; CAF-I p60; M-phase phosphoprotein 7; chromatin assembly factor 1 subunit B; chromatin assembly factor I p60 subunit; human chromatin assembly factor-I p60 subunit", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); prostate cancer (Disease Ontology:DOID:10283); glioblastoma (Disease Ontology:DOID:3068); high grade glioma (Disease Ontology:DOID:3070); skin melanoma (Disease Ontology:DOID:8923)", "pathway": " (hsa:8208)", "pathway_count": 1, "publication_count": 98, "publication_id_list": "10893180;15302935;16964243;17081983;17322306;17924679;18220336;18452278;18669648;18691976;19413330;19415658;19608861;19651622;19664994;19664995;19690332;20068230;20068231;21406692;22645359;23186163;24715725;25418920;25576301;25892735;26154972;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29769354;30192525;30315122;30410026;30429286;30524438;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33214551;33298915;33592498;33633747;33691108;33912179;33968037;33981976;34019948;34087483;34171305;34561969;34932366;35051231;35074917;35251023;35580925;36010968;36241641;36284347;37129573;37377894;40914422;7600578;8885239;9614144;9813080", "class_list": "", "function": "Acts as a component of the histone chaperone complex chromatin assembly factor 1 (CAF-1), which assembles histone octamers onto DNA during replication and repair. CAF-1 performs the first step of the nucleosome assembly process, bringing newly synthesized histones H3 and H4 to replicating DNA; histones H2A/H2B can bind to this chromatin precursor subsequent to DNA replication to complete the histone octamer., [UniProtKB, PubMed]; CHAF1A/B mediate silencing of unintegrated HIV-1 DNAs early in infection., [RefSeq, PubMed]; Chromatin assembly factor I (CAF-I) is required for the assembly of histone octamers onto newly-replicated DNA. CAF-I is composed of three protein subunits, p50, p60, and p150. The protein encoded by this gene corresponds to the p60 subunit and is required for chromatin assembly after replication. The encoded protein is differentially phosphorylated in a cell cycle-dependent manner. In addition, it is normally found in the nucleus except during mitosis, when it is released into the cytoplasm. This protein is a member of the WD-repeat HIR1 family and may also be involved in DNA repair. [provided by RefSeq, Jul 2008]., [RefSeq]; Targeting CHAF1B Enhances IFN Activity against Myeloproliferative Neoplasm Cells. Publication Status: Online-Only, [RefSeq, PubMed]; The histone H3/H4 chaperone CHAF1B prevents the mislocalization of CENP-A for chromosomal stability., [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": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "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": "Q99548", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0051082 unfolded protein binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006281 DNA repair;GO:0006260 DNA replication;GO:0006334 nucleosome assembly;GO:0006335 DNA replication-dependent chromatin assembly", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q13112-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXH7-1", "uniprot_id": [ { "id": "NELFD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXH7", "type": "external" } ], "mass": 66247.0, "length": 590, "protein_name": "Negative elongation factor C/D", "gene_name": "NELFCD", "organism": "Human", "refseq_name": "negative elongation factor C/D", "refseq_ac": [ { "id": "NP_945327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_945327", "type": "external" } ], "gene_names_uniprotkb": "NELFCD; HSPC130; NELFD; TH1L; TH1", "gene_names_refseq": "HSPC130; NELF-C; NELF-D; NELFCD; TH1L; TH1", "protein_names_uniprotkb": "Negative elongation factor C/D; NELF-C/D; TH1-like protein", "protein_names_refseq": "NELF-C/D; TH1 drosophila homolog; TH1-like protein; negative elongation factor C/D; negative elongation factor proteins C and D; trihydrophobin 1", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); colon cancer (Disease Ontology:DOID:219); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:51497); (R-HSA-112382); (R-HSA-113418); (R-HSA-167152); (R-HSA-167158); (R-HSA-167200); (R-HSA-167238); (R-HSA-167242); (R-HSA-167243); (R-HSA-167246); (R-HSA-167287); (R-HSA-167290); (R-HSA-674695); (R-HSA-6796648); (R-HSA-75955)", "pathway_count": 15, "publication_count": 130, "publication_id_list": "10199401;10757782;10866664;10916156;10984493;11030415;11237011;11313498;11313499;11350971;11859374;11884399;11952167;11971958;11988847;12370301;12612062;12653964;12676794;14701750;15489290;15781865;17234882;1939271;19952111;20159561;22012619;22544926;22988298;23481700;23538671;23884411;24354960;24366607;2449431;24554720;24662513;24715725;25418920;25429106;25561469;25576301;25645385;25712099;25880248;26154972;26659056;26811146;26992070;27282391;27543614;27600516;27846572;27920218;28063628;28218747;28228285;2825027;28446606;28510447;28649982;28832583;28834231;28904123;29242379;29371260;29393594;29493099;29508533;29557506;29632046;29786170;30315122;30410026;30524438;30779550;31154438;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37591184;38809918;40914422;7660122;7660129;7660130;7853496;8370526;9063748;9450929;9489704;9765293;9857195", "class_list": "", "function": "(Microbial infection) The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polymerase II., [UniProtKB, PubMed]; Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II (PubMed:12612062). The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex (PubMed:10199401)., [UniProtKB, PubMed, PubMed]; Structural basis of the human negative elongation factor NELF-B/C/E ternary complex., [RefSeq, PubMed]; TH1L involvement in colorectal cancer pathogenesis by regulation of CCL20 through the NF-kappaB signalling pathway., [RefSeq, PubMed]; The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part of the NELF complex. Alternative translation initiation site usage results in the formation of two isoforms with different N-termini. [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": 9, "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": "B4DE06;Q9BYL2;Q9H405;Q9H888;Q9H8T3;Q9NVX5;Q9P029;Q9UGN1;Q9UGN2;Q9UGN3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0016604 nuclear body;GO:0032021 NELF complex", "go_biological_process": "GO:0034244 negative regulation of transcription elongation by RNA polymerase II;GO:0160239 transcription pausing by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q8IXH7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBF6-1", "uniprot_id": [ { "id": "RBX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBF6", "type": "external" } ], "mass": 12683.0, "length": 113, "protein_name": "RING-box protein 2", "gene_name": "RNF7", "organism": "Human", "refseq_name": "RING-box protein 2 isoform 4", "refseq_ac": [ { "id": "NP_001188299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188299", "type": "external" } ], "gene_names_uniprotkb": "RNF7; RBX2; ROC2; SAG", "gene_names_refseq": "CKBBP1; RNF7; ROC2; SAG; rbx2", "protein_names_uniprotkb": "RING-box protein 2; 2.3.2.27; 2.3.2.32; CKBBP1; CKII beta-binding protein 1; RING finger protein 7; Rbx2; Regulator of cullins 2; Sensitive to apoptosis gene protein", "protein_names_refseq": "CKII beta-binding protein 1; RING-box protein 2 isoform 4; RING-box protein 2; sensitive to apoptosis gene protein; sensitive to apoptosis zinc RING finger protein SAG; sensitive to apoptosis, zinc RING finger protein SAG, regulator of cullins 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9616); (R-HSA-8951664); (R-HSA-9705462); (R-HSA-983168)", "pathway_count": 4, "publication_count": 163, "publication_id_list": "10082581;10230407;10512750;10535940;10597293;10811609;10851089;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11506706;11585840;11733065;11961546;12101228;12133942;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12748192;12759363;12816948;14512302;14690597;14734113;14757770;15107455;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601820;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16874460;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17363902;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19453968;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;21980433;22190037;22306028;22466964;22537386;2261476;22959436;23201271;23300442;23301498;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24337577;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25505247;25531226;26344709;26460955;26632597;26906416;27030794;27222660;27565346;27910872;28115426;28832583;29153394;29242379;30379171;30610225;31387940;31844290;32005965;32284348;33268465;33444648;33592498;34185709;34518685;35512830;38418882;38574733;40440427;40963025;9380723;9668046;9790970;9885206;9887101;9891082", "class_list": "", "function": "(Microbial infection) Following infection by HIV-1 virus, catalytic component of a cullin-5-RING E3 ubiquitin-protein ligase complex (ECS complex) hijacked by the HIV-1 Vif protein, which catalyzes ubiquitination and degradation of APOBEC3F and APOBEC3G., [UniProtKB, PubMed, PubMed]; Catalytic component of multiple cullin-5-RING E3 ubiquitin-protein ligase complexes (ECS complexes), which mediate the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:21980433, PubMed:33268465, PubMed:38418882, PubMed:38574733, PubMed:35512830, PubMed:40440427, PubMed:40963025). It is thereby involved in various biological processes, such as cell cycle progression, signal transduction and transcription (PubMed:21980433, PubMed:33268465, PubMed:38418882, PubMed:38574733). The functional specificity of the E3 ubiquitin-protein ligase ECS complexes depend on the variable SOCS box-containing substrate recognition component (PubMed:21980433, PubMed:33268465). Within ECS complexes, RNF7/RBX2 recruits the E2 ubiquitination enzyme to the complex via its RING-type and brings it into close proximity to the substrate (PubMed:34518685). Catalytic subunit of various SOCS-containing ECS complexes, such as the ECS(SOCS7) complex, that regulate reelin signaling by mediating ubiquitination and degradation of DAB1 (By similarity). The ECS(SOCS2) complex mediates the ubiquitination and subsequent proteasomal degradation of phosphorylated EPOR and GHR (PubMed:21980433, PubMed:25505247). Promotes ubiquitination and degradation of NF1, thereby regulating Ras protein signal transduction (By similarity). As part of the ECS(ASB9) complex, catalyzes ubiquitination and degradation of CKB (PubMed:33268465). The ECS(SPSB3) complex catalyzes ubiquitination of nuclear CGAS (PubMed:38418882). As part of the ECS(RAB40C) complex, mediates ANKRD28 ubiquitination and degradation, thereby inhibiting protein phosphatase 6 (PP6) complex activity and focal adhesion assembly during cell migration (PubMed:35512830). The ECS(ASB7) complex acts a negative regulator of H3K9me3 histone mark by mediating ubiquitination and degradation of SUV39H1 (PubMed:40440427). As part of some ECS complex, catalyzes 'Lys-11'-linked ubiquitination and degradation of BTRC (PubMed:27910872). ECS complexes and ARIH2 collaborate in tandem to mediate ubiquitination of target proteins; ARIH2 mediating addition of the first ubiquitin on CRLs targets (PubMed:34518685, PubMed:38418882). As part of the ECS(LRRC58) complex, mediates CDO1 ubiquitination and degradation, regulating cysteine catabolism (PubMed:40963025). Specifically catalyzes the neddylation of CUL5 via its interaction with UBE2F (PubMed:19250909). Does not catalyze neddylation of other cullins (CUL1, CUL2, CUL3, CUL4A or CUL4B) (PubMed:19250909). May play a role in protecting cells from apoptosis induced by redox agents (PubMed:10082581)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Inactive., [UniProtKB, PubMed]; The protein encoded by this gene is a highly conserved ring finger protein. It is an essential subunit of SKP1-cullin/CDC53-F box protein ubiquitin ligases, which are a part of the protein degradation machinery important for cell cycle progression and signal transduction. This protein interacts with, and is a substrate of, casein kinase II (CSNK2A1/CKII). The phosphorylation of this protein by CSNK2A1 has been shown to promote the degradation of IkappaBalpha (CHUK/IKK-alpha/IKBKA) and p27Kip1(CDKN1B). 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "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": "A8K1H9;A8MTB5;C9JYL3;D3DNF7;D3DNF8;Q9BXN8;Q9Y5M7", "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": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "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": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0005507 copper ion binding;GO:0097602 cullin family protein binding;GO:0019788 NEDD8 transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031466 Cul5-RING ubiquitin ligase complex", "go_biological_process": "GO:0030335 positive regulation of cell migration;GO:0043687 post-translational protein modification;GO:0051775 response to redox state;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 16.6, "record_id": "Q9UBF6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16144-1", "uniprot_id": [ { "id": "ITB4_HUMAN", "url": "https://www.uniprot.org/uniprot/P16144", "type": "external" } ], "mass": 202167.0, "length": 1822, "protein_name": "Integrin beta-4", "gene_name": "ITGB4", "organism": "Human", "refseq_name": "integrin beta-4 isoform 1 precursor", "refseq_ac": [ { "id": "NP_000204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000204", "type": "external" } ], "gene_names_uniprotkb": "ITGB4", "gene_names_refseq": "CD104; GP150; ITGB4; JEB5A; JEB5B", "protein_names_uniprotkb": "Integrin beta-4; GP150", "protein_names_refseq": "CD104 antigen; integrin beta-4 isoform 1 precursor", "tax_id": 9606, "disease": "junctional epidermolysis bullosa with pyloric atresia (Disease Ontology:DOID:0060733); junctional epidermolysis bullosa non-Herlitz type (Disease Ontology:DOID:0060738); junctional epidermolysis bullosa (Disease Ontology:DOID:3209); epidermolysis bullosa, junctional 5A, intermediate (MONDO:MONDO:0030768)", "pathway": " (hsa:3691); (R-HSA-2022090); (R-HSA-3000157); (R-HSA-3000170); (R-HSA-446107); (R-HSA-9725554)", "pathway_count": 6, "publication_count": 137, "publication_id_list": "10428948;10596943;10637308;10792571;10811835;10873890;10966814;11054877;11237011;11251584;11289717;11328943;11375975;11964076;12067728;12237301;12482924;12485428;12624109;12802069;12975610;1400327;14602708;14681059;14976204;15121854;15140226;15234001;15265795;15479743;15556625;15611341;15675955;15780751;15837520;15951569;16297201;16335952;16413178;16581764;16945929;16964243;17081983;17314405;17330888;17389395;17615294;17924679;18691976;18707149;19242489;19403692;19651622;19693541;1976638;19924134;20068231;20112406;20682778;22314500;22351760;22493504;22735594;2307289;2311577;2311578;23186163;23283814;23629652;23783831;24794495;2542022;25576301;26340985;26992070;27763564;27862975;28657654;28834231;28873464;29237092;29242379;29331515;29557506;2963012;29672603;29786170;29789417;30361615;30429286;30484775;30905808;31399284;31492838;31844290;32157095;32938616;33537174;33592498;33912179;33968037;33981976;34019948;34087483;34171305;34185709;34924769;34932366;35051231;35254053;35318648;35580925;36010968;36241641;36284347;37074911;37938771;38375821;38831335;38887115;39408927;3997977;7982032;8207089;8609172;9008168;9115237;9166594;9194858;9207246;9245798;9422533;9546354;9645947;9792864;9856810;9892956", "class_list": "", "function": "Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:22351760). ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; MDFI promotes the proliferation and tolerance to chemotherapy of colorectal cancer cells by binding ITGB4/LAMB3 to activate the AKT signaling pathway., [RefSeq, PubMed]; NEDD4L mediates ITGB4 ubiquitination and degradation to suppress esophageal carcinoma progression. Publication Status: Online-Only, [RefSeq, PubMed]; The association between integrin beta4 overexpression and lymphovascular invasion in papillary thyroid cancer., [RefSeq, PubMed]; YKL40/Integrin beta4 Axis Induced by the Interaction between Cancer Cells and Tumor-Associated Macrophages Is Involved in the Progression of High-Grade Serous Ovarian Carcinoma. 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": 2, "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": 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": 20, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 63, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 18, "disease_count": 4, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A0AVL6;O14690;O14691;O15339;O15340;O15341;Q0VF97;Q9UIQ4", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0046872 metal ion binding;GO:0001664 G protein-coupled receptor binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0030054 cell junction;GO:0031252 cell leading edge", "go_biological_process": "GO:0007155 cell adhesion;GO:0007229 integrin-mediated signaling pathway;GO:0016477 cell migration;GO:0007160 cell-matrix adhesion;GO:0033627 cell adhesion mediated by integrin", "synthesized_glycan_count": 0, "hit_score": 16.2, "record_id": "P16144-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14192-1", "uniprot_id": [ { "id": "FHL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14192", "type": "external" } ], "mass": 32193.0, "length": 279, "protein_name": "Four and a half LIM domains protein 2", "gene_name": "FHL2", "organism": "Human", "refseq_name": "four and a half LIM domains protein 2 isoform a", "refseq_ac": [ { "id": "NP_001034581", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034581", "type": "external" } ], "gene_names_uniprotkb": "FHL2; DRAL; SLIM3", "gene_names_refseq": "AAG11; DRAL; FHL-2; FHL2; SLIM-3; SLIM3", "protein_names_uniprotkb": "Four and a half LIM domains protein 2; FHL-2; LIM domain protein DRAL; SLIM-3; Skeletal muscle LIM-protein 3", "protein_names_refseq": "LIM domain protein DRAL; aging-associated gene 11; down-regulated in rhabdomyosarcoma LIM protein; four and a half LIM domains protein 2 isoform a; skeletal muscle LIM-protein 3", "tax_id": 9606, "disease": "2-hydroxyglutaric aciduria (Disease Ontology:DOID:0050573); chromosome 22q11.2 deletion syndrome, distal (Disease Ontology:DOID:0060413); combined D-2- and L-2-hydroxyglutaric aciduria (Disease Ontology:DOID:0111619); DiGeorge syndrome (Disease Ontology:DOID:11198); congenital myasthenic syndrome (Disease Ontology:DOID:3635); mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:2274); (R-HSA-1989781)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "10777541;11001931;11237011;11267664;11813260;12118000;12177166;12432079;12505311;12582161;15067378;15130092;15453830;15635043;15692560;16380219;16652157;16972786;18540824;18669648;18719978;18848529;18853468;19088433;19710929;19934321;20068231;20110263;20305658;22851699;23271734;24196956;25218447;25418920;26154972;27397612;27862975;28717008;29393594;29557506;30484775;31844290;32157095;32502341;32938616;33214551;33592498;33717175;33968037;33981976;34019948;34078123;34087483;34171305;34725712;35051231;35580925;36010968;36241641;36284347;37945432;38203523;38323374;38629424;38665916;7685352;7892212;8647822;8753811;9012850;9150430;9573400;9748239", "class_list": "", "function": "Downregulation of FHL2 suppressed trophoblast migration, invasion and epithelial-mesenchymal transition in recurrent miscarriage., [RefSeq, PubMed]; FHL2 Inhibits SARS-CoV-2 Replication by Enhancing IFN-beta Expression through Regulating IRF-3. Publication Status: Online-Only, [RefSeq, PubMed]; FHL2 promotes the aggressiveness of lung adenocarcinoma by inhibiting autophagy via activation of the PI3K/AKT/mTOR pathway., [RefSeq, PubMed]; Four and a half LIM domains 2 (FHL2) attenuates tumorigenesis of gastrointestinal stromal tumors (GISTs) by negatively regulating KIT signaling., [RefSeq, PubMed]; May function as a molecular transmitter linking various signaling pathways to transcriptional regulation. Negatively regulates the transcriptional repressor E4F1 and may function in cell growth. Inhibits the transcriptional activity of FOXO1 and its apoptotic function by enhancing the interaction of FOXO1 with SIRT1 and FOXO1 deacetylation. Negatively regulates the calcineurin/NFAT signaling pathway in cardiomyocytes (PubMed:28717008)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. This protein is thought to have a role in the assembly of extracellular membranes. Also, this gene is down-regulated during transformation of normal myoblasts to rhabdomyosarcoma cells and the encoded protein may function as a link between presenilin-2 and an intracellular signaling pathway. Multiple alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jan 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": 1, "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": "Q13229;Q13644;Q2I5I4;Q5TM15;Q9P294", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0003714 transcription corepressor activity;GO:0008134 transcription factor binding;GO:0043425 bHLH transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton;GO:0030018 Z disc", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0043066 negative regulation of apoptotic process;GO:0070885 negative regulation of calcineurin-NFAT signaling cascade;GO:0009725 response to hormone", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q14192-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULR0-3", "uniprot_id": [ { "id": "ISY1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULR0", "type": "external" } ], "mass": 32992.0, "length": 285, "protein_name": "Pre-mRNA-splicing factor ISY1 homolog", "gene_name": "ISY1", "organism": "Human", "refseq_name": "pre-mRNA-splicing factor ISY1 homolog isoform 1", "refseq_ac": [ { "id": "NP_001186398", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186398", "type": "external" } ], "gene_names_uniprotkb": "ISY1; KIAA1160", "gene_names_refseq": "FSAP33; ISY1", "protein_names_uniprotkb": "Pre-mRNA-splicing factor ISY1 homolog", "protein_names_refseq": "ISY1 splicing factor homolog; functional spliceosome-associated protein 33; pre-mRNA-splicing factor ISY1 homolog isoform 1; pre-mRNA-splicing factor ISY1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:100534599); (hsa:57461); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-72163); (R-HSA-9918481)", "pathway_count": 8, "publication_count": 191, "publication_id_list": "10882114;10944529;11014198;11101529;11233976;11747608;11904382;11991638;12176931;12208738;12411573;12414731;12477934;12660172;12732143;14517266;14519844;14625303;14713954;14762106;15084397;15590680;16103217;16246722;16314458;16751180;16809785;17000769;17095540;17290000;17332742;17466625;17466626;17525332;17606899;17948053;17981804;18079701;18322460;18593880;18614043;18991276;19103666;19165350;19279666;19536130;19608861;19940136;20227374;20423332;20541997;20980672;21070792;21282463;21536652;2176635;21872626;21911577;21993680;22081108;22110043;22118460;22365833;22466610;22466611;22466612;22902626;22959432;22961380;23222130;23236153;23345524;23481700;23906714;23973375;24127601;24196718;24304693;24402227;24448447;24714562;24737827;24914973;25154395;25435140;25555158;25576301;2558966;25599396;25645385;25880248;25892735;26092250;26154972;26375851;26385511;26420826;26969736;26992070;27108190;27377154;27459055;27600516;27683217;27846572;27920218;28062851;28063628;28076346;28228285;28502770;28514659;28781166;28832583;28834231;29242379;29301961;29360106;29361316;29393594;29508533;29557506;29632046;29632711;2963332;29786170;29902443;30315277;30524438;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31154438;31217245;31222486;31409651;31844290;31887540;32157095;32161166;32179686;32329775;32355176;32357974;32387766;32494006;32502341;32897882;32938616;32983136;33177556;33243851;33446560;33592498;33691108;33717175;33968037;33981976;34087483;34171305;34301950;34509645;34822310;34932366;35051231;35215846;35385551;35580925;36010968;3757028;7700386;8078911;8566756;8608946;8876179;9016565;9242493;9326587;9512519;9524131;9539711;9671485;9699634;9701291;9716411;9731529;9875289", "class_list": "", "function": "Component of the spliceosome C complex required for the selective processing of microRNAs during embryonic stem cell differentiation (By similarity). Required for the biogenesis of all miRNAs from the pri-miR-17-92 primary transcript except miR-92a (By similarity). Only required for the biogenesis of miR-290 and miR-96 from the pri-miR-290-295 and pri-miR-96-183 primary transcripts, respectively (By similarity). Required during the transition of embryonic stem cells (ESCs) from the naive to primed state (By similarity). By enhancing miRNA biogenesis, promotes exit of ESCs from the naive state to an intermediate state of poised pluripotency, which precedes transition to the primed state (By similarity). Involved in pre-mRNA splicing as component of the spliceosome., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Describes the function of yeast Isy1p in pre-mRNA splicing., [RefSeq, PubMed]; The splicing component ISY1 regulates APE1 in base excision repair., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q96IL2;Q9BT05", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0071013 catalytic step 2 spliceosome;GO:0071014 post-mRNA release spliceosomal complex", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome;GO:0000350 generation of catalytic spliceosome for second transesterification step;GO:0000389 mRNA 3'-splice site recognition", "synthesized_glycan_count": 0, "hit_score": 19.2, "record_id": "Q9ULR0-3", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50148-1", "uniprot_id": [ { "id": "GNAQ_HUMAN", "url": "https://www.uniprot.org/uniprot/P50148", "type": "external" } ], "mass": 42142.0, "length": 359, "protein_name": "Guanine nucleotide-binding protein G(q) subunit alpha", "gene_name": "GNAQ", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein G(q) subunit alpha", "refseq_ac": [ { "id": "NP_002063", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002063", "type": "external" } ], "gene_names_uniprotkb": "GNAQ; GAQ", "gene_names_refseq": "CMAL; G-ALPHA-q; GAQ; GNAQ; SWS", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(q) subunit alpha; 3.6.5.-; Guanine nucleotide-binding protein alpha-q", "protein_names_refseq": "epididymis secretory sperm binding protein; guanine nucleotide binding protein (G protein), q polypeptide; guanine nucleotide-binding protein G(q) subunit alpha; guanine nucleotide-binding protein alpha-q", "tax_id": 9606, "disease": "familial multiple nevi flammei (Disease Ontology:DOID:0111529); Sturge-Weber syndrome (Disease Ontology:DOID:0111563); dilated cardiomyopathy (Disease Ontology:DOID:12930); McCune Albright syndrome (Disease Ontology:DOID:1858); lung non-small cell carcinoma (Disease Ontology:DOID:3908); congestive heart failure (Disease Ontology:DOID:6000); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2776); (R-HSA-112043); (R-HSA-202040); (R-HSA-399997); (R-HSA-416476); (R-HSA-418592); (R-HSA-428930); (R-HSA-434316); (R-HSA-456926); (R-HSA-6814122); (R-HSA-9856530); (R-HSA-9860927)", "pathway_count": 12, "publication_count": 166, "publication_id_list": "10191087;10215864;10376603;10567430;10639123;10649434;10727532;10759852;10764742;10861009;11015615;11118617;11237011;11588141;11742120;11753430;11786497;11853546;11968001;12120503;12135370;12176338;12193606;12194018;12496284;12565875;12629551;12724311;1322796;1333286;14742685;1527003;15304325;15448129;15718470;15889144;15914509;15951850;16081037;16102047;16182515;16212421;16242307;16268778;16289108;16339447;16415903;16418336;16580177;16702223;16717095;1672265;16753580;16754659;16780920;16871065;16892066;16923326;17081983;17095603;17101212;17130640;17395749;17900700;17919190;17962409;1825698;18280240;18383439;18434541;1846707;1851174;18515384;18577758;18606873;18672896;18710921;18827341;18936096;19001095;19020623;1905813;19078957;19212142;19376773;19398560;19401434;19715408;19723632;19758793;20670195;21172430;21923740;22307269;23637185;23656586;23994616;24130766;24141704;25659125;25675501;25892735;26992070;27566546;27797339;27852822;2841328;29557506;29769354;3086311;31154438;31205027;31408443;31844290;31848261;32037480;32126208;32157095;32296767;32350084;32639031;32673515;32938616;32983136;33592498;34211107;34499618;34556863;35051231;35580925;35672283;36010968;36241641;37991948;38917801;39043181;39225978;7492305;7876172;7937899;7957923;7989336;8073283;8132675;8190105;8208289;8290554;8521505;8664309;8700127;8733591;8825633;8836152;8910365;8982657;9087410;9152406;9153422;9305846;9544801;9618465;9620797;9700850;9770463;9808756;9924018", "class_list": "", "function": "GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomas., [RefSeq, PubMed]; Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:34556863, PubMed:35672283, PubMed:37991948). The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state (PubMed:37991948). Signaling by an activated GPCR promotes GDP release and GTP binding (PubMed:37991948). The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal (PubMed:37991948). Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (PubMed:37991948). Signaling is mediated via phospholipase C-beta-dependent inositol lipid hydrolysis for signal propagation: activates phospholipase C-beta: following GPCR activation, GNAQ activates PLC-beta (PLCB1, PLCB2, PLCB3 or PLCB4), leading to production of diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) (PubMed:37991948). Required for platelet activation (By similarity). Regulates B-cell selection and survival and is required to prevent B-cell-dependent autoimmunity (By similarity). Regulates chemotaxis of BM-derived neutrophils and dendritic cells (in vitro) (By similarity). Transduces FFAR4 signaling in response to long-chain fatty acids (LCFAs) (PubMed:27852822). Together with GNA11, required for heart development (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Molecular mechanism of the endothelin receptor type B interactions with Gs, Gi, and Gq., [RefSeq, PubMed]; This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]., [RefSeq]; Transcription repression of estrogen receptor alpha by ghrelin/Gq/11/YAP signaling in granulosa cells promotes 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": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 8, "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": "O15108;Q13462;Q6NT27;Q92471;Q9BZB9", "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": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.4.21.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.5", "type": "external" }, { "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" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "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": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "3.1.4.11", "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": "3.6.-.-", "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:0005096 GTPase activator activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0001664 G protein-coupled receptor binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0031965 nuclear membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007206 phospholipase C-activating G protein-coupled glutamate receptor signaling pathway;GO:0010543 regulation of platelet activation;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007213 G protein-coupled acetylcholine receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "P50148-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96KB5-1", "uniprot_id": [ { "id": "TOPK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96KB5", "type": "external" } ], "mass": 36085.0, "length": 322, "protein_name": "Lymphokine-activated killer T-cell-originated protein kinase", "gene_name": "PBK", "organism": "Human", "refseq_name": "lymphokine-activated killer T-cell-originated protein kinase isoform 2", "refseq_ac": [ { "id": "NP_001265874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265874", "type": "external" } ], "gene_names_uniprotkb": "PBK; TOPK", "gene_names_refseq": "CT84; HEL164; Nori-3; PBK; SPK; TOPK", "protein_names_uniprotkb": "Lymphokine-activated killer T-cell-originated protein kinase; 2.7.12.2; CT84; Cancer/testis antigen 84; MAPKK-like protein kinase; Nori-3; PDZ-binding kinase; SPK; Spermatogenesis-related protein kinase; T-LAK cell-originated protein kinase", "protein_names_refseq": "MAPKK-like protein kinase; T-LAK cell-originated protein kinase; cancer/testis antigen 84; epididymis luminal protein 164; lymphokine-activated killer T-cell-originated protein kinase isoform 2; lymphokine-activated killer T-cell-originated protein kinase; serine/threonine protein kinase; spermatogenesis-related protein kinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:55872)", "pathway_count": 1, "publication_count": 90, "publication_id_list": "10779557;10781613;11237011;11378444;11783945;14757441;15541388;16316408;17322306;17344846;17482142;17924679;18669648;19413330;20068231;21136679;22223895;23186163;23301498;23481700;23783831;24714562;25575812;25576301;25645385;25802875;26154972;26992070;27016416;27543614;27600516;27846572;27920218;28228285;28412249;28780319;28832583;28834231;28904123;29242379;29331515;29371260;29493099;29557506;29786170;30315122;30379171;30429286;30779550;31154438;31611604;31844290;32157095;32161166;32237067;32357974;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33537174;33592498;33691108;33912179;33968037;33981976;34019948;34087483;34171305;34185709;35051231;35318648;35546143;35561310;35580925;35705054;35780928;36010968;36241641;36284347;36807309;37148702;37226642;37328464;37376412;37938771;38131517", "class_list": "", "function": "KRAS[G12C] mutation-induced TOPK overexpression contributes to tumour progression in non-small cell lung cancer., [RefSeq, PubMed]; PBK/TOPK is upregulated in Burkitt's lymphoma and other highly proliferative malignant cells and during normal fetal development., [RefSeq, PubMed]; PDZ-binding kinase aggravates pancreatic neuroendocrine neoplasm progression by activating the AKT/mTOR pathway., [RefSeq, PubMed]; Phosphorylates MAP kinase p38. Seems to be active only in mitosis. May also play a role in the activation of lymphoid cells. When phosphorylated, forms a complex with TP53, leading to TP53 destabilization and attenuation of G2/M checkpoint during doxorubicin-induced DNA damage., [UniProtKB, PubMed, PubMed]; TOPK inhibits TNF-alpha-induced granulosa cell apoptosis via regulation of SIRT1/p53., [RefSeq, PubMed]; TOPK promotes the development of psoriasis and worenine alleviates psoriasiform dermatitis by inhibiting TOPK activity., [RefSeq, PubMed]; TOPK promotes the growth of esophageal cancer in vitro and in vivo by enhancing YB1/eEF1A1 signal pathway. Publication Status: Online-Only, [RefSeq, PubMed]; TOPK protein is up-regulated in a variety of hematologic malignancies and may be involved in leukemic cell growth; 4 of 5 clinical that strongly expressed TOPK also strongly expressed phosphorylated c-Myc, [RefSeq, PubMed]; This gene encodes a serine/threonine protein kinase related to the dual specific mitogen-activated protein kinase kinase (MAPKK) family. Evidence suggests that mitotic phosphorylation is required for its catalytic activity. The encoded protein may be involved in the activation of lymphoid cells and support testicular functions, with a suggested role in the process of spermatogenesis. Overexpression of this gene has been implicated in tumorigenesis. Alternative splicing 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": 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": 16, "reported_mutagensis": 4, "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": "B4DX68;D3DST2;Q9NPD9;Q9NYL7;Q9NZK6", "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:0005524 ATP binding;GO:0004708 MAP kinase kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000278 mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q96KB5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IX06-1", "uniprot_id": [ { "id": "GOR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IX06", "type": "external" } ], "mass": 73855.0, "length": 675, "protein_name": "Putative exonuclease GOR", "gene_name": "REXO1L1P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "REXO1L1P; GOR; REXO1L1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative exonuclease GOR; 3.1.-.-; Antigen GOR homolog; RNA exonuclease 1 homolog-like 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11472404;23481700;25645385;30379171;31530632;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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A6NK34;O95107", "ec_number_list": [], "go_molecular_function": "GO:0003676 nucleic acid binding;GO:0004527 exonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0031125 rRNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8IX06-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31273-1", "uniprot_id": [ { "id": "HXC8_HUMAN", "url": "https://www.uniprot.org/uniprot/P31273", "type": "external" } ], "mass": 27755.0, "length": 242, "protein_name": "Homeobox protein Hox-C8", "gene_name": "HOXC8", "organism": "Human", "refseq_name": "homeobox protein Hox-C8", "refseq_ac": [ { "id": "NP_073149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073149", "type": "external" } ], "gene_names_uniprotkb": "HOXC8; HOX3A", "gene_names_refseq": "HOX3A; HOX3; HOXC8", "protein_names_uniprotkb": "Homeobox protein Hox-C8; Homeobox protein Hox-3A", "protein_names_refseq": "Hox-3.1, mouse, homolog of; homeo box 3A; homeo box C8; homeobox protein Hox-3A; homeobox protein Hox-C8", "tax_id": 9606, "disease": "", "pathway": " (hsa:3224); (R-HSA-9762293)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "11857506;12925734;15699330;16793922;22227038;24130169;24810778;2576652;28904123;29269046;29296180;29642003;32463580;34763232;36308681;38348790;38531796;38641828;7791786;9357979", "class_list": "", "function": "DNA Methylation-Regulated HOXC8's Role in HER2-Positive Breast Cancer Function and its Contribution to Herceptin Resistance., [RefSeq, PubMed]; HOXC6/8/10/13 predict poor prognosis and associate with immune infiltrations in glioblastoma., [RefSeq, PubMed]; HOXC8 alleviates high glucose-triggered damage of trophoblast cells during gestational diabetes mellitus via activating TGFbeta1-mediated Notch1 pathway., [RefSeq, PubMed]; Human papillomavirus type 16 E7 promotes cell viability and migration in cervical cancer by regulating the miR-23a/HOXC8 axis., [RefSeq, PubMed]; N6-methyladenosine-modified circSLCO1B3 promotes intrahepatic cholangiocarcinoma progression via regulating HOXC8 and PD-L1. Publication Status: Online-Only, [RefSeq, PubMed]; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis., [UniProtKB]; This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the regulation of cartilage differentiation. It could also be involved in chondrodysplasias or other cartilage disorders. [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K4J4;O15221;O15362", "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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "P31273-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43405-1", "uniprot_id": [ { "id": "KSYK_HUMAN", "url": "https://www.uniprot.org/uniprot/P43405", "type": "external" } ], "mass": 72066.0, "length": 635, "protein_name": "Tyrosine-protein kinase SYK", "gene_name": "SYK", "organism": "Human", "refseq_name": "tyrosine-protein kinase SYK isoform Syk(S)", "refseq_ac": [ { "id": "NP_001128524", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128524", "type": "external" } ], "gene_names_uniprotkb": "SYK", "gene_names_refseq": "IMD82; SYK; p72-Syk", "protein_names_uniprotkb": "Tyrosine-protein kinase SYK; 2.7.10.2; Spleen tyrosine kinase; p72-Syk", "protein_names_refseq": "spleen tyrosine kinase; tyrosine-protein kinase SYK isoform Syk(S); tyrosine-protein kinase SYK", "tax_id": 9606, "disease": "immunodeficiency 82 (Disease Ontology:DOID:0061053); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780)", "pathway": " (hsa:6850); (R-HSA-114604); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-2424491); (R-HSA-2454202); (R-HSA-2730905); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-354192); (R-HSA-5607764); (R-HSA-5621480); (R-HSA-9020558); (R-HSA-912631); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-9674555); (R-HSA-9679191); (R-HSA-9705462); (R-HSA-9706374); (R-HSA-983695)", "pathway_count": 22, "publication_count": 590, "publication_id_list": 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"class_list": "", "function": "Exposure of cancer cells to epithelial growth factor modulated the SYK splicing pattern to promote the pro-survival isoform that is associated with cancer tissues in vivo., [RefSeq, PubMed]; Non-receptor tyrosine kinase which mediates signal transduction downstream of a variety of transmembrane receptors including classical immunoreceptors like the B-cell receptor (BCR). Regulates several biological processes including innate and adaptive immunity, cell adhesion, osteoclast maturation, platelet activation and vascular development (PubMed:12387735, PubMed:33782605). Assembles into signaling complexes with activated receptors at the plasma membrane via interaction between its SH2 domains and the receptor tyrosine-phosphorylated ITAM domains. The association with the receptor can also be indirect and mediated by adapter proteins containing ITAM or partial hemITAM domains. The phosphorylation of the ITAM domains is generally mediated by SRC subfamily kinases upon engagement of the receptor. More rarely signal transduction via SYK could be ITAM-independent. Direct downstream effectors phosphorylated by SYK include DEPTOR, VAV1, PLCG1, PI-3-kinase, LCP2 and BLNK (PubMed:12456653, PubMed:15388330, PubMed:34634301, PubMed:8657103). Initially identified as essential in B-cell receptor (BCR) signaling, it is necessary for the maturation of B-cells most probably at the pro-B to pre-B transition (PubMed:12456653). Activated upon BCR engagement, it phosphorylates and activates BLNK an adapter linking the activated BCR to downstream signaling adapters and effectors. It also phosphorylates and activates PLCG1 and the PKC signaling pathway. It also phosphorylates BTK and regulates its activity in B-cell antigen receptor (BCR)-coupled signaling. In addition to its function downstream of BCR also plays a role in T-cell receptor signaling. Also plays a crucial role in the innate immune response to fungal, bacterial and viral pathogens. It is for instance activated by the membrane lectin CLEC7A. Upon stimulation by fungal proteins, CLEC7A together with SYK activates immune cells inducing the production of ROS. Also activates the inflammasome and NF-kappa-B-mediated transcription of chemokines and cytokines in presence of pathogens. Regulates neutrophil degranulation and phagocytosis through activation of the MAPK signaling cascade (By similarity). Required for the stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770). Also mediates the activation of dendritic cells by cell necrosis stimuli. Also involved in mast cells activation. Involved in interleukin-3/IL3-mediated signaling pathway in basophils (By similarity). Also functions downstream of receptors mediating cell adhesion (PubMed:12387735). Relays for instance, integrin-mediated neutrophils and macrophages activation and P-selectin receptor/SELPG-mediated recruitment of leukocytes to inflammatory loci. Also plays a role in non-immune processes. It is for instance involved in vascular development where it may regulate blood and lymphatic vascular separation. It is also required for osteoclast development and function. Functions in the activation of platelets by collagen, mediating PLCG2 phosphorylation and activation. May be coupled to the collagen receptor by the ITAM domain-containing FCER1G. Also activated by the membrane lectin CLEC1B that is required for activation of platelets by PDPN/podoplanin. Involved in platelet adhesion being activated by ITGB3 engaged by fibrinogen. Together with CEACAM20, enhances production of the cytokine CXCL8/IL-8 via the NFKB pathway and may thus have a role in the intestinal immune response (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Nuclear Syk possesses biological activities associated with tumor suppression in mammary epithelial cells. Erratum:[Cancer Res. 2003 Oct 15;63(20):7004], [RefSeq, PubMed]; SYK(L) downregulation or SYK(S) elevation are strong predictors of poor survival in patients with hepatocellular carcinoma., [RefSeq, PubMed]; Syk protein inhibitors treatment for the allergic symptoms associated with hyper immunoglobulin E syndromes: A focused on a computational approach., [RefSeq, PubMed]; Syk-dependent homologous recombination activation promotes cancer resistance to DNA targeted therapy., [RefSeq, PubMed]; This gene encodes a member of the family of non-receptor type Tyr protein kinases. This protein is widely expressed in hematopoietic cells and is involved in coupling activated immunoreceptors to downstream signaling events that mediate diverse cellular responses, including proliferation, differentiation, and phagocytosis. It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas. Alternatively spliced 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": 46, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 30, "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": "", "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": "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": "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": "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": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" } ], "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0002366 leukocyte activation involved in immune response;GO:0002283 neutrophil activation involved in immune response;GO:0002554 serotonin secretion by platelet;GO:0010543 regulation of platelet activation", "synthesized_glycan_count": 0, "hit_score": 59.3, "record_id": "P43405-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15291-1", "uniprot_id": [ { "id": "RBBP5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15291", "type": "external" } ], "mass": 59153.0, "length": 538, "protein_name": "Retinoblastoma-binding protein 5", "gene_name": "RBBP5", "organism": "Human", "refseq_name": "retinoblastoma-binding protein 5 isoform 2", "refseq_ac": [ { "id": "NP_001180201", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180201", "type": "external" } ], "gene_names_uniprotkb": "RBBP5; RBQ3", "gene_names_refseq": "RBBP5; RBQ3; SWD1", "protein_names_uniprotkb": "Retinoblastoma-binding protein 5; RBBP-5; Retinoblastoma-binding protein RBQ-3", "protein_names_refseq": "RBBP-5; SWD1, Set1c WD40 repeat protein, homolog; retinoblastoma-binding protein 5 isoform 2; retinoblastoma-binding protein 5; retinoblastoma-binding protein RBQ-3", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:5929); (R-HSA-201722); (R-HSA-3214841); (R-HSA-3769402); (R-HSA-5617472); (R-HSA-8936459); (R-HSA-8951664); (R-HSA-9772755); (R-HSA-9818564); (R-HSA-9841922); (R-HSA-9909649); (R-HSA-9944997); (R-HSA-9976102)", "pathway_count": 13, "publication_count": 423, "publication_id_list": "10080941;10425206;10485845;10535940;10549281;10558993;10597293;10617663;10769018;10775268;10777502;10811609;10831834;10835357;10878807;10882139;10898789;10921920;10944533;10949293;10973499;11027271;11050151;11069780;11080158;11136974;11259415;11292861;11292862;11454738;11532957;11585840;11691915;11713476;11733065;11934263;11955446;11959841;11961546;11973335;11988739;12101228;12123582;12130538;12163411;12186903;12393701;12408824;12408825;12453418;12482972;12483298;12504025;12504026;12526791;12538644;12540855;12576332;12609982;12670868;12682069;12712206;12759363;12816948;12829629;1310260;14536086;14600025;14636557;14685266;14690597;14690610;14695187;14757770;14992727;15060161;15121853;15132997;15145825;15199122;15235609;15282312;15294866;15327769;15361859;15367669;15525529;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15768032;15799966;15829968;15867264;15960975;15964846;16005293;16079151;16118227;16169192;16171779;16199523;16227571;16239140;16253997;16292313;16380219;16401342;16510874;16519522;16547496;16549775;16604156;16628190;16630820;16647857;16682010;16707496;16756492;16790436;16805913;16829959;16878130;16892064;16943200;17021013;17052462;17081101;17081983;17132228;17183367;17185360;17218525;17220875;17332328;17355966;17412698;17425782;17428788;17428831;17458864;17497243;17500065;17525332;17544230;1756725;17612494;17660710;17671196;17698607;17707229;17713478;17761849;17761950;17785452;17851529;17875931;17925232;17998332;18077418;18093314;18160704;18172012;18206966;18316480;18347063;18378692;18404694;18452278;18456656;18498752;18573912;18598779;18598942;18775313;18776931;18781158;18805092;18819930;18826954;18829457;18829459;18838386;18838538;18851830;18926707;19043829;19047045;19088198;19103755;19114653;19115252;19124460;19131338;19148484;19172745;19187761;19232136;19250909;19321346;19364920;19460168;19487454;19493659;19509293;19556245;19571879;19590513;19617556;19651622;19664994;19747919;19748355;1975088;19782034;19808676;19854132;19928349;19940019;20018852;20068231;20085832;20339092;20575550;20716525;20876458;20961854;21106533;21124902;21129147;21131905;21131967;21135039;21196496;21220120;21252065;21406692;21447816;21463634;21654818;21725049;21726809;21740066;21778237;21779408;21832073;21863050;21940857;22099308;22186018;22190459;22266653;22304967;22306028;22327296;22466964;22537386;22569366;22617422;22652693;22665483;22705304;22777353;22879880;22939622;22959436;22982193;23178126;23201271;23219899;23301498;23333871;23401859;23453757;23481700;23508102;23534758;23535662;23535663;23563313;23583660;23630040;23912815;23986495;23995757;24076655;24174538;24244196;24291232;24312487;24366543;24368734;24586203;24636985;24680668;24715725;24793695;24793696;25101834;25135475;25314029;25349211;25355947;25531226;25561738;25576301;25593305;25645385;2570724;25913784;26010396;26154972;26324722;26344709;26460955;26632597;26886794;26906416;26992070;27030794;27222660;27397612;27563068;27565346;27698142;27760318;28115426;28182322;28398509;28904123;29138278;29153394;29437277;29493099;29557506;29897600;29937342;30107592;30315122;30385408;30429286;30610225;30779550;31154438;31217245;31400120;31485071;31530632;31544921;31844290;31848261;31937595;31998317;32005965;32157095;32161166;32183950;32284348;32387766;32488085;32502341;32860047;32938616;32983136;33043033;33141586;33298915;33329381;33392160;33444648;33592498;33633747;33657400;33717175;33912179;33936100;33968037;33981976;34012049;34019948;34211107;34561969;34932366;34933446;35033534;35051231;35190547;35439434;35580925;38665916;40914422;7488013;7501971;7558034;7831296;7906964;7908827;8521497;8521498;8674428;8756721;8757136;8759021;8955148;9065481;9118222;9171241;9218805;9272954;9482740;9488439;9490669;9744270;9751710;9790970;9819412;9843967;9887101;9891082", "class_list": "", "function": "Analysis of menin's role as a tumor suppressor and binding sites of Rbbp5 and MLL1, [RefSeq, PubMed]; In embryonic stem (ES) cells, plays a crucial role in the differentiation potential, particularly along the neural lineage, regulating gene induction and H3 'Lys-4' methylation at key developmental loci, including that mediated by retinoic acid (By similarity). Does not affect ES cell self-renewal (By similarity). Component or associated component of some histone methyltransferase complexes which regulates transcription through recruitment of those complexes to gene promoters (PubMed:19131338). As part of the MLL1/MLL complex, involved in mono-, di- and trimethylation at 'Lys-4' of histone H3 (PubMed:19556245). Histone H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation (PubMed:19556245). In association with ASH2L and WDR5, stimulates the histone methyltransferase activities of KMT2A, KMT2B, KMT2C, KMT2D, SETD1A and SETD1B (PubMed:21220120, PubMed:22266653)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described 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": 12, "reported_mutagensis": 4, "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": "A8K272;Q7Z6D8;Q8NDZ7", "ec_number_list": [], "go_molecular_function": "GO:0000976 transcription cis-regulatory region binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0035097 histone methyltransferase complex;GO:0044666 MLL3/4 complex", "go_biological_process": "GO:0006974 DNA damage response;GO:0045815 transcription initiation-coupled chromatin remodeling;GO:0043627 response to estrogen", "synthesized_glycan_count": 0, "hit_score": 42.6, "record_id": "Q15291-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16348-1", "uniprot_id": [ { "id": "S15A2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16348", "type": "external" } ], "mass": 81783.0, "length": 729, "protein_name": "Solute carrier family 15 member 2", "gene_name": "SLC15A2", "organism": "Human", "refseq_name": "solute carrier family 15 member 2 isoform b", "refseq_ac": [ { "id": "NP_001139470", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139470", "type": "external" } ], "gene_names_uniprotkb": "SLC15A2; PEPT2", "gene_names_refseq": "PEPT2; SLC15A2", "protein_names_uniprotkb": "Solute carrier family 15 member 2; Kidney H(+)/peptide cotransporter; Oligopeptide transporter, kidney isoform; Peptide transporter 2", "protein_names_refseq": "kidney H(+)/peptide cotransporter; peptide transporter 2; solute carrier family 15 (H+/peptide transporter), member 2; solute carrier family 15 (oligopeptide transporter), member 2; solute carrier family 15 member 2 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:6565)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;11944083;12579467;16434549;18367661;20406817;24715725;28228285;29557506;30418433;31073693;31757425;31848261;32157095;34087483;35051231;35251023;35580925;7756356", "class_list": "", "function": "Alternate expression of PEPT1 and PEPT2 in epidermal differentiation is required for NOD2 immune responses by bacteria-derived muramyl dipeptide., [RefSeq, PubMed]; Expression, localization and functional aspects of this protein in the normal respiratory tract and in cystic fibrosis, [RefSeq, PubMed]; Proton-coupled amino-acid transporter that transports oligopeptides of 2 to 4 amino acids with a preference for dipeptides (PubMed:16434549, PubMed:18367661, PubMed:7756356). Transports neutral and anionic dipeptides with a proton to peptide stoichiometry of 2:1 or 3:1 (By similarity). In kidney, involved in the absorption of circulating di- and tripeptides from the glomerular filtrate (PubMed:7756356). Can also transport beta-lactam antibiotics, such as the aminocephalosporin cefadroxil, and other antiviral and anticancer drugs (PubMed:16434549). Transports the dipeptide-like aminopeptidase inhibitor bestatin (By similarity). Also able to transport carnosine (PubMed:31073693). Involved in innate immunity by promoting the detection of microbial pathogens by NOD-like receptors (NLRs) (By similarity). Mediates transport of bacterial peptidoglycans across the plasma membrane or, in macrophages, the phagosome membrane: catalyzes the transport of certain bacterial peptidoglycans, such as muramyl dipeptide (MDP), the NOD2 ligand (PubMed:20406817)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The mammalian kidney expresses a proton-coupled peptide transporter that is responsible for the absorption of small peptides, as well as beta-lactam antibiotics and other peptide-like drugs, from the tubular filtrate. This transporter, SLC15A2, belongs to the same gene family as SLC15A1 (MIM 600544), the proton-coupled peptide transporter found in the small intestine (Liu et al, 1995 [PubMed 7756356]).[supplied by OMIM, Feb 2011]., [RefSeq]; The transporters PEPT2, PHT1, and PHT2 are responsible for the uptake of carnosine into glioblastoma cells and full function of all three transporters is required for maximum uptake., [RefSeq, PubMed]; The two identified aminoterminal regions in mammalian peptide carriers play an important role in determining the substrate affinity and also other characteristic features of the two transporter subtypes., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 36, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K1A5;B4E2A7", "ec_number_list": [], "go_molecular_function": "GO:0015333 peptide:proton symporter activity;GO:0042937 tripeptide transmembrane transporter activity;GO:0071916 dipeptide transmembrane transporter activity;GO:0015293 symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane;GO:0030670 phagocytic vesicle membrane;GO:0016020 membrane", "go_biological_process": "GO:0015031 protein transport;GO:0070293 renal absorption;GO:0140206 dipeptide import across plasma membrane;GO:0070424 regulation of nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway;GO:0042908 xenobiotic transport", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q16348-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UGC6-1", "uniprot_id": [ { "id": "RGS17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UGC6", "type": "external" } ], "mass": 24359.0, "length": 210, "protein_name": "Regulator of G protein signaling 17", "gene_name": "RGS17", "organism": "Human", "refseq_name": "regulator of G-protein signaling 17", "refseq_ac": [ { "id": "NP_036551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036551", "type": "external" } ], "gene_names_uniprotkb": "RGS17; RGSZ2", "gene_names_refseq": "RGS-17; RGS17; RGSZ2; hRGS17", "protein_names_uniprotkb": "Regulator of G protein signaling 17; RGS17", "protein_names_refseq": "regulator of G-protein signaling 17", "tax_id": 9606, "disease": "", "pathway": " (hsa:26575); (R-HSA-416476); (R-HSA-418594); (R-HSA-418597)", "pathway_count": 4, "publication_count": 51, "publication_id_list": "10191087;10567430;10727532;10861009;10954748;11007482;11015615;11313909;11742120;11753430;12120503;1347957;15096504;15951850;16182515;16268778;16339447;16634148;16754659;16923326;18434541;18515384;18577758;18936096;1905813;1939224;2534964;2748346;2834384;2841328;28502923;3086311;31454494;31844290;32157095;32938616;33592498;33968037;34002599;34405274;35051231;36215666;37094862;7559455;7595566;7937899;8015379;8406495;8664309;9305846;9770463", "class_list": "", "function": "Hsa_circ_0000285-Mediated miR-599/RGS17 Axis Participates in the Pathogenesis of Abdominal Aortic Aneurysm by Regulating the Functions of Vascular Smooth Muscle Cells., [RefSeq, PubMed]; Knock-down of Long non-coding RNA Linc00483 inhibited the development of cervical cancer by regulating miR-508-3p/RGS17 axis., [RefSeq, PubMed]; MiR-203 inhibits cell proliferation, invasion, and migration of ovarian cancer through regulating RGS17., [RefSeq, PubMed]; Regulates G protein-coupled receptor signaling cascades, including signaling via muscarinic acetylcholine receptor CHRM2 and dopamine receptor DRD2. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:15096504). Binds selectively to GNAZ and GNAI2 subunits, accelerates their GTPase activity and regulates their signaling activities. Negatively regulates mu-opioid receptor-mediated activation of the G proteins (By similarity)., [UniProtKB, UniProtKB, PubMed]; This gene encodes a member of the regulator of G-protein signaling family. This protein contains a conserved, 120 amino acid motif called the RGS domain and a cysteine-rich region. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5TF49;Q8TD61;Q9UJS8", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0045202 synapse;GO:0043005 neuron projection", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0001975 response to amphetamine;GO:0045744 negative regulation of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9UGC6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00221-1", "uniprot_id": [ { "id": "IKBE_HUMAN", "url": "https://www.uniprot.org/uniprot/O00221", "type": "external" } ], "mass": 52864.0, "length": 500, "protein_name": "NF-kappa-B inhibitor epsilon", "gene_name": "NFKBIE", "organism": "Human", "refseq_name": "NF-kappa-B inhibitor epsilon", "refseq_ac": [ { "id": "NP_004547", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004547", "type": "external" } ], "gene_names_uniprotkb": "NFKBIE; IKBE", "gene_names_refseq": "IKBE; NFKBIE", "protein_names_uniprotkb": "NF-kappa-B inhibitor epsilon; I-kappa-B-epsilon; IkB-E; IkB-epsilon; IkappaBepsilon; NF-kappa-BIE", "protein_names_refseq": "I-kappa-B-epsilon; NF-kappa-B inhibitor epsilon; NF-kappa-BIE; ikB-E; ikB-epsilon; ikappaBepsilon; nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon", "tax_id": 9606, "disease": "", "pathway": " (hsa:4794); (R-HSA-1169091)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "10066435;10230406;10321728;10514424;10593898;11237011;11460167;12070292;12118249;14695475;16301747;16356855;17428801;1756723;18462924;19066035;19909372;20449947;23186163;23481700;23783831;24715725;25505266;26375851;27600516;27846572;28228285;28832583;28834231;28904123;29242379;29508533;29557506;29632711;30779550;31154438;3129195;31844290;32157095;32387766;32502341;32938616;32983136;33691108;33912179;33968037;34509645;34932366;35051231;35580925;36010968;36241641;37217939;37938771;38486128;38575671;7479848;7479976;7575604;7628694;7809113;7831327;7862124;7957109;8387275;8670417;9135156;9315679;9721103;9859996;9914500;9990852", "class_list": "", "function": "IkappaBepsilon deficiency accelerates disease development in chronic lymphocytic leukemia., [RefSeq, PubMed]; NFKBIE mutations are selected by the tumor microenvironment and contribute to immune escape in chronic lymphocytic leukemia., [RefSeq, PubMed]; Sequesters NF-kappa-B transcription factor complexes in the cytoplasm, thereby inhibiting their activity (PubMed:9315679). Sequestered complexes include NFKB1-RELA (p50-p65) and NFKB1-REL (p50-c-Rel) complexes (PubMed:9135156, PubMed:9315679). Limits B-cell activation in response to pathogens, and also plays an important role in B-cell development (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the nucleus. [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": 3, "reported_mutagensis": 3, "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": "Q5T9V9", "ec_number_list": [], "go_molecular_function": "GO:0140311 protein sequestering activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001650 fibrillar center;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0042942 D-serine transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "O00221-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96S82-1", "uniprot_id": [ { "id": "UBL7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96S82", "type": "external" } ], "mass": 40510.0, "length": 380, "protein_name": "Ubiquitin-like protein 7", "gene_name": "UBL7", "organism": "Human", "refseq_name": "ubiquitin-like protein 7 isoform a", "refseq_ac": [ { "id": "NP_001273668", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273668", "type": "external" } ], "gene_names_uniprotkb": "UBL7; BMSCUBP; SB132", "gene_names_refseq": "BMSC-UbP; TCBA1; UBL7", "protein_names_uniprotkb": "Ubiquitin-like protein 7; BMSC-UbP; Bone marrow stromal cell ubiquitin-like protein; Ubiquitin-like protein SB132", "protein_names_refseq": "ubiquitin-like 7 (bone marrow stromal cell-derived); ubiquitin-like protein 7 isoform a; ubiquitin-like protein 7; ubiquitin-like protein SB132", "tax_id": 9606, "disease": "", "pathway": " (hsa:84993)", "pathway_count": 1, "publication_count": 77, "publication_id_list": "11237011;12644319;16731964;17081983;18220336;18669648;19651622;19690332;20068231;20166139;21406692;23186163;23481700;24275569;24714562;24715725;25418920;25505266;25548167;25576301;25645385;26154972;26375851;26728094;26929215;26992070;27058226;27600516;27846572;27862975;27920218;28228285;28514659;28832583;28904123;29242379;29485866;29508533;29557506;29632711;29786170;30315122;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34509645;34932366;35051231;35154160;35561310;36215666;36241641;36284347;36943869;37938771;38665916", "class_list": "", "function": "BMSC-UbP might play roles in regulation of BMSC function or cell differentiation through an evocator- and cell-specific pattern., [RefSeq, PubMed]; Interferon-stimulated protein that positively regulates RNA virus-triggered innate immune signaling. Mechanistically, promotes 'Lys-27'-linked polyubiquitination of MAVS through TRIM21 leading to enhanced the IFN signaling pathway., [UniProtKB]; The solution NMR structure of the ubiquitin-associated domain of the human BMSC-UbP protein and its complex with ubiquitin, [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": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DW57;Q96I03", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0031593 polyubiquitin modification-dependent protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006511 ubiquitin-dependent protein catabolic process;GO:0140374 antiviral innate immune response", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q96S82-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKS7-1", "uniprot_id": [ { "id": "IKZF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKS7", "type": "external" } ], "mass": 59574.0, "length": 526, "protein_name": "Zinc finger protein Helios", "gene_name": "IKZF2", "organism": "Human", "refseq_name": "zinc finger protein Helios isoform 2", "refseq_ac": [ { "id": "NP_001072994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001072994", "type": "external" } ], "gene_names_uniprotkb": "IKZF2; HELIOS; ZNFN1A2", "gene_names_refseq": "ANF1A2; HELIOS; ICHAD; IKZF2; IMDIA; ZNF1A2; ZNFN1A2", "protein_names_uniprotkb": "Zinc finger protein Helios; Ikaros family zinc finger protein 2", "protein_names_refseq": "ikaros family zinc finger protein 2; zinc finger DNA binding protein Helios; zinc finger protein Helios isoform 2; zinc finger protein Helios; zinc finger protein, subfamily 1A, 2 (Helios)", "tax_id": 9606, "disease": "lung non-small cell carcinoma (Disease Ontology:DOID:3908); immunodysregulation with variable immunodeficiency and autoimmunity (MONDO:MONDO:0979233); ICHAD syndrome (MONDO:MONDO:0979234)", "pathway": " (hsa:22807); (R-HSA-9940951)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10204490;10541817;10970879;10978333;11237011;11937265;17646674;17924679;19608861;19690332;23481700;24554700;24714562;24715725;25150861;25418920;25576301;25593309;25755297;25892735;26154972;26375851;26728094;26811146;26929215;26992070;27633282;27732854;27846572;27920218;28228285;28514659;28832583;28834231;28904123;29042441;29242379;29351928;29393594;29508533;29557506;29632046;29769354;29786170;29789417;30045876;30134174;30315122;30524438;31092671;31217245;31746185;31844290;32157095;32357974;32502341;32897882;33141586;33298915;33717175;33912179;34211107;34826259;34826260;34920454;34932366;35051231;35251023;35580925;36008597;36510022;36738680;37316189;37938771;37996909;39406892;39754384;40914422;7969165;9512513", "class_list": "", "function": "Aging-associated HELIOS deficiency in naive CD4[+] T cells alters chromatin remodeling and promotes effector cell responses., [RefSeq, PubMed]; Decreased frequency of regulatory T cells and level of helios gene expression in secondary progressive multiple sclerosis patients: Evidence about the development of multiple sclerosis., [RefSeq, PubMed]; Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay., [RefSeq, PubMed]; Novel short isoforms of Helios are overexpressed in a patient with T-cell acute lymphoblastic leukemia and may contribute to the development of T-cell malignancies. Data for unaltered Helios indicates tumor suppressor function., [RefSeq, PubMed]; Temporal changes in regulatory T cell subsets defined by the transcription factor Helios in stroke and their potential role in stroke-associated infection: a prospective case-control study. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This protein forms homo- or hetero-dimers with other Ikaros family members, and is thought to function predominantly in early hematopoietic development. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor, which stabilizes the noninflammatory phenotype of regulatory T cells (Tregs) (By similarity). May possibly act via STAT5-mediated signaling (By similarity). Binds IL2 promoter and represses its transcription, possibly by epigenetic silencing, inducing deacetylation of core histones in the IL2 promoter (PubMed:37316189). In Tregs, required for FOXP3 recruitment to the IL2 promoter (By similarity). Required for outer hair cells maturation and, consequently, for hearing (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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53YJ5;Q6PQC5;Q6PQC6;Q6PQC7;Q6PQC8;Q6PQD0;Q6PQD1;Q8N6S1", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q9UKS7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11388-1", "uniprot_id": [ { "id": "TOP2A_HUMAN", "url": "https://www.uniprot.org/uniprot/P11388", "type": "external" } ], "mass": 174385.0, "length": 1531, "protein_name": "DNA topoisomerase 2-alpha", "gene_name": "TOP2A", "organism": "Human", "refseq_name": "DNA topoisomerase 2-alpha", "refseq_ac": [ { "id": "NP_001058", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001058", "type": "external" } ], "gene_names_uniprotkb": "TOP2A; TOP2", "gene_names_refseq": "TOP2A; TOP2alpha; TOP2; TOPIIA; TP2A", "protein_names_uniprotkb": "DNA topoisomerase 2-alpha; 5.6.2.2; DNA topoisomerase II, alpha isozyme", "protein_names_refseq": "DNA gyrase; DNA topoisomerase (ATP-hydrolyzing); DNA topoisomerase 2-alpha; DNA topoisomerase II, 170 kD; DNA topoisomerase II, alpha isozyme; topoisomerase (DNA) II alpha 170kDa", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054); penile benign neoplasm (Disease Ontology:DOID:11624); limited scleroderma (Disease Ontology:DOID:1577); diffuse scleroderma (Disease Ontology:DOID:1580); cancer (Disease Ontology:DOID:162); B cell deficiency (Disease Ontology:DOID:2115); nephroblastoma (Disease Ontology:DOID:2154); pulmonary fibrosis (Disease Ontology:DOID:3770); lung non-small cell carcinoma (Disease Ontology:DOID:3908); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:7153); (R-HSA-1362277); (R-HSA-4615885)", "pathway_count": 3, "publication_count": 241, "publication_id_list": "10.1101/2023.09.13.557529;10095062;10203015;10454584;10759568;10862613;10942766;11237011;11709553;11940573;11959842;12042320;12149243;12569090;12711669;12782299;12821127;12832072;15104674;15126503;15302935;15931174;15989970;16100112;1651812;1652758;16565220;16964243;17081983;17183683;17287340;17466629;17531812;17567603;17697703;17924679;18062778;18171681;18212344;18220336;18381449;18394993;18452278;18669648;18691976;18767875;18790802;18946085;18991276;19007248;19043076;19098900;19222228;19413330;19415658;19596686;19651622;19664994;19664995;19690332;19691289;19697956;20058876;20068230;20068231;20112406;20457750;20663916;21167178;21406692;21498570;21554500;21872626;21878638;21993680;22013166;22322005;22323612;22424782;22457066;22464730;22544926;22645359;22841979;22862954;23022727;23186163;23213405;23481700;23652018;24366607;24714562;24715725;24782567;25114211;25202966;25218447;25418920;25469497;25505266;25576301;25645385;25755297;25772364;25880248;25892735;26024233;26030138;26154972;26375851;26728094;26768311;26811146;26929215;26992070;27407105;27600516;27754753;27846572;27893789;27920218;28063628;28218747;28228285;28352266;2845399;28510447;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30379171;30410026;30429286;30484775;30524438;30779550;30833945;30871006;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32522876;32897882;32938616;32983136;33091337;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34093574;34171305;34211107;34357683;34405274;34509645;34543352;34561969;34725712;34932366;35051231;35083852;35154160;35251023;35318648;35561310;35580925;35873470;35874702;36010968;36215666;36241641;36271492;36284347;37249035;37938771;38403725;38445610;38561479;38806610;40596516;40914422;7499337;7623816;7635160;7961967;8050359;8299728;8393377;8700224;8939955;9029102;9155056;9520412;9778043;9795238;9804834", "class_list": "", "function": "Activating the abscission checkpoint: Top2alpha senses chromatin bridges in cytokinesis: Top2alpha binds to DNA knots on chromatin bridges to activate the abscission checkpoint in human cells. Review article, [RefSeq, PubMed]; Expression and potential molecular mechanism of TOP2A in metastasis of non-small cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Key decatenating enzyme that alters DNA topology by binding to two double-stranded DNA molecules, generating a double-stranded break in one of the strands, passing the intact strand through the broken strand, and religating the broken strand (PubMed:17567603, PubMed:18790802, PubMed:22013166, PubMed:22323612, PubMed:27754753). May play a role in regulating the period length of BMAL1 transcriptional oscillation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; TOP2A modulates signaling via the AKT/mTOR pathway to promote ovarian cancer cell proliferation., [RefSeq, PubMed]; The correlation study between TOP2A gene expression in circulating tumor cells and chemotherapeutic drug resistance of patients with breast cancer., [RefSeq, PubMed]; This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. [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": 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": 2, "reported_o_glycosites_with_glycan": 16, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 16, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 16, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 66, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 63, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 13, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "B2RTS1;Q71UN1;Q71UQ5;Q9HB24;Q9HB25;Q9HB26;Q9UP44;Q9UQP9", "ec_number_list": [ { "id": "5.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.2", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" } ], "go_molecular_function": "GO:0008301 DNA binding, bending;GO:0003918 DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity;GO:0000287 magnesium ion binding;GO:0003677 DNA binding;GO:0003682 chromatin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0000775 chromosome, centromeric region", "go_biological_process": "GO:0000712 resolution of meiotic recombination intermediates;GO:0007059 chromosome segregation;GO:0043065 positive regulation of apoptotic process;GO:0006974 DNA damage response;GO:0030263 apoptotic chromosome condensation", "synthesized_glycan_count": 0, "hit_score": 26.3, "record_id": "P11388-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43365-1", "uniprot_id": [ { "id": "HXA3_HUMAN", "url": "https://www.uniprot.org/uniprot/O43365", "type": "external" } ], "mass": 46369.0, "length": 443, "protein_name": "Homeobox protein Hox-A3", "gene_name": "HOXA3", "organism": "Human", "refseq_name": "homeobox protein Hox-A3", "refseq_ac": [ { "id": "NP_109377", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_109377", "type": "external" } ], "gene_names_uniprotkb": "HOXA3; HOX1E", "gene_names_refseq": "HOX1E; HOX1; HOXA3", "protein_names_uniprotkb": "Homeobox protein Hox-A3; Homeobox protein Hox-1E", "protein_names_refseq": "Hox-1.5-like protein; homeo box 1E; homeo box A3; homeobox protein Hox-1E; homeobox protein Hox-A3", "tax_id": 9606, "disease": "DiGeorge syndrome (Disease Ontology:DOID:11198)", "pathway": " (hsa:3200); (R-HSA-5617472)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10777502;11237011;15867264;16079151;16549775;16959974;17185360;17428788;1756725;17660710;17713478;17761849;17851529;18781158;19115252;19232136;19747919;1975088;19782034;19854132;20085832;22569366;22705304;22879880;23219899;23534758;23630040;24174538;24312487;24586203;25101834;25135475;2570724;25913784;33683826;36215227;38253038;38259452;38867543;7488013;7501971;7831296;7906964;7908827;8674428;8759021;9218805;9272954;9482740", "class_list": "", "function": "ARID1B/SUB1-activated lncRNA HOXA-AS2 drives the malignant behaviour of hepatoblastoma through regulation of HOXA3., [RefSeq, PubMed]; HOXA3 functions as the on-off switch to regulate the development of hESC-derived third pharyngeal pouch endoderm through EPHB2-mediated Wnt pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Homeobox A3 and KDM6A cooperate in transcriptional control of aerobic glycolysis and glioblastoma progression., [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. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis., [UniProtKB]; Upregulation of HOXA3 by isoform-specific Wilms tumour 1 drives chemotherapy resistance in acute myeloid leukaemia., [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": 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": 29, "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": "A4D181", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0071837 HMG box domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0001525 angiogenesis;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0009952 anterior/posterior pattern specification;GO:0048704 embryonic skeletal system morphogenesis", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "O43365-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95817-1", "uniprot_id": [ { "id": "BAG3_HUMAN", "url": "https://www.uniprot.org/uniprot/O95817", "type": "external" } ], "mass": 61595.0, "length": 575, "protein_name": "BAG family molecular chaperone regulator 3", "gene_name": "BAG3", "organism": "Human", "refseq_name": "BAG family molecular chaperone regulator 3", "refseq_ac": [ { "id": "NP_004272", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004272", "type": "external" } ], "gene_names_uniprotkb": "BAG3; BIS", "gene_names_refseq": "BAG-3; BAG3; BIS; CAIR-1; CMD1HH; CMT2JJ; HMND15; MFM6", "protein_names_uniprotkb": "BAG family molecular chaperone regulator 3; BAG-3; Bcl-2-associated athanogene 3; Bcl-2-binding protein Bis; Docking protein CAIR-1", "protein_names_refseq": "BAG family molecular chaperone regulator 3; BCL2 associated athanogene 3; BCL2-binding athanogene 3; Bcl-2-binding protein BIS transcript 2; bcl-2-binding protein Bis; docking protein CAIR-1", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); autosomal dominant distal hereditary motor neuronopathy 15 (Disease Ontology:DOID:0051042); Charcot-Marie-Tooth disease axonal type 2JJ (Disease Ontology:DOID:0051043); myofibrillar myopathy 6 (Disease Ontology:DOID:0080097); dilated cardiomyopathy 1HH (Disease Ontology:DOID:0110448); dilated cardiomyopathy (Disease Ontology:DOID:12930); pancreatic cancer (Disease Ontology:DOID:1793); glioblastoma (Disease Ontology:DOID:3068)", "pathway": " (hsa:9531); (R-HSA-3371453)", "pathway_count": 2, "publication_count": 144, "publication_id_list": "10.1101/2023.09.13.557529;10597216;10954706;10980614;11237011;11747420;12853476;12917326;12974469;15302935;15364926;15592455;15802566;1586970;16094384;16278218;16964243;17081983;17287340;17322306;1754405;17924679;18212344;18220336;18235501;18235502;18452278;18491316;18550409;18669648;18691976;19085932;19229036;19413330;19415658;19651622;19664994;19664995;19914676;20060297;20068231;20605452;21353195;21361913;21459883;21898660;22366786;22465953;22541429;22734908;22735644;22940245;23108398;23186163;23271734;23301498;23349863;23434281;23481700;24275569;24318877;24577090;24715725;25114211;25208129;25576301;25645385;25810538;26154972;26159920;26992070;27474739;27846572;27884606;27920218;28144995;28649982;28657654;28754666;28832583;28904123;29242379;29314611;29485866;29493099;29557506;29632711;29786170;30192525;30315122;30379171;30559338;31217245;31373491;31492838;31844290;31853710;32157095;32350084;32357974;32387766;32488085;32502341;32574038;32859500;32938616;33123756;33141586;33214551;33298915;33592498;33912179;33936100;33968037;33981976;34171305;34185709;34211107;34357683;35051231;35251023;35254053;35318648;35513511;36010968;36215666;36284347;37340703;37907725;37938771;38665916;38838015;39195919;39261742;39418513;39457090;39531497;40307207;7585962;8721986;8946918;9305631;9873016;9920933", "class_list": "", "function": "BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]., [RefSeq]; CaMKII suppresses proteotoxicity by phosphorylating BAG3 in response to proteasomal dysfunction., [RefSeq, PubMed]; Co-chaperone and adapter protein that connects different classes of molecular chaperones including heat shock proteins 70 (HSP70s), e.g. HSPA1A/HSP70 or HSPA8/HSC70, and small heat shock proteins (sHSPs), e.g. HSPB8 (PubMed:27884606, PubMed:30559338). Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from HSP70s, thereby triggering client protein release (PubMed:27884606, PubMed:30559338). Nucleotide release is mediated via BAG3 binding to the nucleotide-binding domain (NBD) of HSP70s, whereas client release is mediated via binding to the substrate-binding domain (SBD) (PubMed:27474739, PubMed:9873016). Has anti-apoptotic activity (PubMed:10597216). Plays a role in the HSF1 nucleocytoplasmic transport (PubMed:26159920)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Functional analysis of a common BAG3 allele associated with protection from heart failure., [RefSeq, PubMed]; The Role of BAG3 Protein Interactions in Cardiomyopathies. Publication Status: Online-Only, [RefSeq, PubMed]; Universal Adapter Protein Bag3 and Small Heat Shock Proteins. 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": 22, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 22, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 22, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 27, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 8, "glyco_site_count": 24, "binding_glycan_count": 0, "secondary_ac_list": "A8K5L8;Q3B763;Q9NT20;Q9P120", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0051087 protein-folding chaperone binding;GO:0045296 cadherin binding;GO:0044877 protein-containing complex binding;GO:0000774 adenyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0098840 protein transport along microtubule;GO:0061684 chaperone-mediated autophagy;GO:0000045 autophagosome assembly;GO:0021510 spinal cord development", "synthesized_glycan_count": 0, "hit_score": 17.0, "record_id": "O95817-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR55-1", "uniprot_id": [ { "id": "BATF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR55", "type": "external" } ], "mass": 14468.0, "length": 127, "protein_name": "Basic leucine zipper transcriptional factor ATF-like 3", "gene_name": "BATF3", "organism": "Human", "refseq_name": "basic leucine zipper transcriptional factor ATF-like 3", "refseq_ac": [ { "id": "NP_061134", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061134", "type": "external" } ], "gene_names_uniprotkb": "BATF3; SNFT", "gene_names_refseq": "BATF3; JDP1; JUNDM1; SNFT", "protein_names_uniprotkb": "Basic leucine zipper transcriptional factor ATF-like 3; 21 kDa small nuclear factor isolated from T-cells; B-ATF-3; Jun dimerization protein p21SNFT", "protein_names_refseq": "21 kDa small nuclear factor isolated from T-cells; 21-kD small nuclear factor isolated from T cells; B-ATF-3; Jun dimerization protein 1; Jun dimerization protein p21SNFT; basic leucine zipper transcription factor, ATF-like 3; basic leucine zipper transcriptional factor ATF-like 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:55509)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10878360;12087103;15467742;19413330;19690332;23186163;33968037;34552066;36409527;38217769", "class_list": "", "function": "AP-1 family transcription factor that controls the differentiation of CD8(+) thymic conventional dendritic cells in the immune system. Required for development of CD8-alpha(+) classical dendritic cells (cDCs) and related CD103(+) dendritic cells that cross-present antigens to CD8 T-cells and produce interleukin-12 (IL12) in response to pathogens (By similarity). Acts via the formation of a heterodimer with JUN family proteins that recognizes and binds DNA sequence 5'-TGA[CG]TCA-3' and regulates expression of target genes., [UniProtKB, PubMed, PubMed, PubMed]; Correlation of transcriptional repression by p21(SNFT) with changes in DNA.NF-AT complex interactions, [RefSeq, PubMed]; Overexpression of p21SNFT in HepG2 cells leads to repression of matrix metalloproteinase-1 by 70-80%, [RefSeq, PubMed]; SiRNA-mediated downregulation of BATF3 diminished proliferation and induced apoptosis through downregulating c-Myc expression in chronic myelogenous leukemia cells. Publication Status: Online-Only, [RefSeq, PubMed]; Super-enhancer-based identification of a BATF3/IL-2R-module reveals vulnerabilities in anaplastic large cell lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; The bZIP transcription factor BATF3/ZIP-10 suppresses innate immunity by attenuating PMK-1/p38 signaling., [RefSeq, PubMed]; This gene encodes a member of the basic leucine zipper protein family. The encoded protein functions as a transcriptional repressor when heterodimerizing with JUN. The protein may play a role in repression of interleukin-2 and matrix metalloproteinase-1 transcription.[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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;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:0009615 response to virus;GO:0043011 myeloid dendritic cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9NR55-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14933-1", "uniprot_id": [ { "id": "UB2L6_HUMAN", "url": "https://www.uniprot.org/uniprot/O14933", "type": "external" } ], "mass": 17769.0, "length": 153, "protein_name": "Ubiquitin/ISG15-conjugating enzyme E2 L6", "gene_name": "UBE2L6", "organism": "Human", "refseq_name": "ubiquitin/ISG15-conjugating enzyme E2 L6 isoform 1", "refseq_ac": [ { "id": "NP_004214", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004214", "type": "external" } ], "gene_names_uniprotkb": "UBE2L6; UBCH8", "gene_names_refseq": "RIG-B; UBCH8; UBE2L6", "protein_names_uniprotkb": "Ubiquitin/ISG15-conjugating enzyme E2 L6; 2.3.2.23; E2 ubiquitin-conjugating enzyme L6; RIG-B; Retinoic acid-induced gene B protein; UbcH8; Ubiquitin carrier protein L6; Ubiquitin-protein ligase L6", "protein_names_refseq": "E2 ubiquitin-conjugating enzyme L6; retinoic acid induced gene B protein; ubiquitin carrier protein L6; ubiquitin conjugating enzyme E2L 6; ubiquitin-protein ligase L6; ubiquitin/ISG15-conjugating enzyme E2 L6 isoform 1; ubiquitin/ISG15-conjugating enzyme E2 L6", "tax_id": 9606, "disease": "", "pathway": " (hsa:9246); (R-HSA-1169408); (R-HSA-168928); (R-HSA-5656169); (R-HSA-936440); (R-HSA-977225); (R-HSA-983168); (R-HSA-9833110); (R-HSA-9833482); (R-HSA-9909505)", "pathway_count": 10, "publication_count": 354, "publication_id_list": "10082513;10097139;10319874;10348343;10391242;10400669;10411933;10583407;10620360;10626894;10648614;10801132;10848580;10856253;10866685;10894956;10956649;10984059;11006276;11062501;11095724;11096080;11112487;11134010;11152499;11156368;11157743;11237011;11237715;11238103;11238927;11278841;11278865;11313968;11337501;11350924;11350938;11401442;11438540;11467836;11500375;11590439;11607032;11781817;11788588;118839;11909525;11939789;11985496;12231563;12397061;12444249;12454989;12525615;12582176;12646216;1270801;12882984;1373135;14506261;14567678;14585331;14734113;14976261;15064394;15131269;15199127;15208624;15224091;15224092;15229216;15299030;15485925;15571818;15702989;15737233;15752359;15907845;15962837;16009940;16112642;16122702;16125763;16127453;16139798;16153868;16174740;16179258;16179259;16352599;16373505;16394098;16407192;16427630;16428300;16431927;16595681;16600570;16699525;16709802;16715065;16717090;16775314;16799559;16815975;16849449;16872604;16914094;16954532;1695551;16982605;17043239;17079286;17196820;17289916;17376915;17392790;17425515;17600090;17991829;18057259;18065497;18070888;18096616;18200010;18287095;18305167;18307765;1837051;18420935;18449172;18484335;1849145;18583345;18591409;18662542;18835251;18957415;19011241;19017631;19028597;19073728;19125153;19153606;19229320;19270716;19352404;19416861;19452197;19484123;19489725;19531363;19658395;19710021;19733181;19804757;19828817;19838063;19851334;19874575;19881509;19893624;19928833;19940261;20133869;20219937;20304918;20308324;20385878;20395957;20403326;20410276;20434986;20508617;20519500;20628368;20676056;20685959;20807650;21072047;21123651;21143968;2118650;21294215;21518807;21628590;21636578;21937648;2195544;21978664;21994559;22065755;22090124;22131221;22214662;2247437;2261476;22700975;22859295;22986343;23000965;23084476;23143872;23229543;23593430;23732991;23813966;2409350;24347309;24449906;24623135;24659800;24715725;24753571;24755855;24768535;24833601;24893886;25523424;25653431;25848059;25854864;26018760;26101251;26154972;26417681;26432638;26446704;26488609;26668317;26686862;26716879;26807092;26817845;26992070;27208315;27269119;27423063;27600516;27862975;27974558;279930;28069888;28167698;28218747;28228285;28281686;28467828;28765891;28832583;2900981;29170442;29175459;29231267;29242379;29348664;29394925;29395325;29437277;29440070;29493099;29501855;29557506;29786170;30169894;30174290;30224801;30315122;3035556;30410026;3053705;30770398;3080684;3094007;31031002;31154438;3142462;31434731;31455651;31844290;31848261;31998317;32093270;32157095;32488085;32716602;32801355;32897882;32938616;32983136;33242255;33298915;33592498;33691108;33808629;33911136;33968037;34087483;34174402;34561969;34773365;34932366;34974812;35051231;35318648;35580925;35685460;35947956;36102648;36284347;36712380;3675579;36793726;37127961;37500176;37938771;7491766;7515177;7545299;7559393;7565688;7693978;7737357;7903669;8033412;8097946;8114934;8159701;8464497;8490014;8576172;8576179;8658138;8661426;8751446;8810342;8870004;8910500;9006323;9034343;9054935;9079663;9153201;9380723;9442054;9521856;9525617;9528799;9668046;9687506;9737981;9819388;9862427;9920933", "class_list": "", "function": "An integrative analysis identifying transcriptional features and key genes involved in COVID-19., [RefSeq, PubMed]; Association of UBE2L6 and ABCB6 Expression With Platinum Resistance in Serous Ovarian Carcinoma., [RefSeq, PubMed]; Catalyzes the covalent attachment of ubiquitin or ISG15 to other proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Promotes ubiquitination and subsequent proteasomal degradation of FLT3., [UniProtKB, PubMed, PubMed, PubMed]; Increased UBE2L6 regulated by type 1 interferon as potential marker in TB., [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 (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is highly similar in primary structure to the enzyme encoded by the UBE2L3 gene. Two alternatively spliced transcript variants encoding distinct 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A6NDM6;A8MY53;Q8N5D8;Q9UEZ0", "ec_number_list": [ { "id": "6.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.45", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "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": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "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": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "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": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "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": "2.3.2.36", "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": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" } ], "go_molecular_function": "GO:0004842 ubiquitin-protein transferase activity;GO:0043130 ubiquitin binding;GO:0042296 ISG15 transferase activity;GO:0061631 ubiquitin conjugating enzyme activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0036211 protein modification process;GO:0045087 innate immune response;GO:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0032020 ISG15-protein conjugation", "synthesized_glycan_count": 0, "hit_score": 35.5, "record_id": "O14933-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20963-1", "uniprot_id": [ { "id": "CD3Z_HUMAN", "url": "https://www.uniprot.org/uniprot/P20963", "type": "external" } ], "mass": 18696.0, "length": 164, "protein_name": "T-cell surface glycoprotein CD3 zeta chain", "gene_name": "CD247", "organism": "Human", "refseq_name": "T-cell surface glycoprotein CD3 zeta chain isoform 2 precursor", "refseq_ac": [ { "id": "NP_000725", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000725", "type": "external" } ], "gene_names_uniprotkb": "CD247; CD3Z; T3Z; TCRZ", "gene_names_refseq": "CD247; CD3-ZETA; CD3H; CD3Q; CD3ZETA; CD3Z; IMD25; T3Z; TCRZ", "protein_names_uniprotkb": "T-cell surface glycoprotein CD3 zeta chain; T-cell receptor T3 zeta chain", "protein_names_refseq": "CD247 antigen, zeta subunit; CD3Z antigen, zeta polypeptide (TiT3 complex); CD3zeta chain; T-cell antigen receptor complex, zeta subunit of CD3; T-cell receptor T3 zeta chain; T-cell surface glycoprotein CD3 zeta chain isoform 2 precursor; T-cell surface glycoprotein CD3 zeta chain; TCR zeta chain; tissue factor-targeting CAR1 dimer; tissue factor-targeting CAR1 monomer", "tax_id": 9606, "disease": "immunodeficiency 25 (Disease Ontology:DOID:0111942)", "pathway": " (hsa:919)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "10224289;10449770;10704231;10752619;11237011;11390434;11722641;11978774;12176041;12522270;1384049;1385158;15144186;15592455;15659558;15684325;15832366;16027224;16051847;16672702;17055436;1825220;19690332;23858057;24502978;2470098;2532305;26154972;26783323;28465009;28652325;28832583;28904123;29242379;29493099;29557506;2974162;29786170;31844290;32502341;32757378;34357683;35289116;35320345;35398668;35580925;36284347;37567322;7509083;7528772;7544002;7659156;7680960;8648092;8901551;9185620;9484780;9677202;9811718", "class_list": "", "function": "CD24 is a surrogate for 'immune-cold' phenotype in aggressive large B-cell lymphoma., [RefSeq, PubMed]; CD3zeta as a novel predictive biomarker of PD-1 inhibitor resistance in melanoma., [RefSeq, PubMed]; Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD247/CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:1384049, PubMed:1385158, PubMed:2470098, PubMed:7509083). CD247/CD3Z ITAMs phosphorylation creates multiple docking sites for the protein kinase ZAP70 leading to ZAP70 phosphorylation and its conversion into a catalytically active enzyme (PubMed:7509083). Plays an important role in intrathymic T-cell differentiation. Additionally, participates in the activity-dependent synapse formation of retinal ganglion cells (RGCs) in both the retina and dorsal lateral geniculate nucleus (dLGN) (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Phenotypic and molecular states of IDH1 mutation-induced CD24-positive glioma stem-like cells., [RefSeq, PubMed]; The CD3zeta adaptor structure determines functional differences between human and mouse CD16 Fc receptor signaling., [RefSeq, PubMed]; The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct 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": 8, "reported_mutagensis": 3, "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": "B1AK49;Q5VX13;Q8TAX4", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;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:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0042101 T cell receptor complex;GO:0042105 alpha-beta T cell receptor complex", "go_biological_process": "GO:0038094 Fc-gamma receptor signaling pathway;GO:0046631 alpha-beta T cell activation;GO:0007166 cell surface receptor signaling pathway;GO:0051259 protein complex oligomerization;GO:0050852 T cell receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "P20963-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13191-1", "uniprot_id": [ { "id": "CBLB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13191", "type": "external" } ], "mass": 109450.0, "length": 982, "protein_name": "E3 ubiquitin-protein ligase CBL-B", "gene_name": "CBLB", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase CBL-B isoform b", "refseq_ac": [ { "id": "NP_001308717", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308717", "type": "external" } ], "gene_names_uniprotkb": "CBLB; Nbla00127; RNF56", "gene_names_refseq": "ADMIO3; CBLB; Cbl-b; Nbla00127; RNF56", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase CBL-B; 2.3.2.27; Casitas B-lineage lymphoma proto-oncogene b; RING finger protein 56; RING-type E3 ubiquitin transferase CBL-B; SH3-binding protein CBL-B; Signal transduction protein CBL-B", "protein_names_refseq": "Cas-Br-M (murine) ecotropic retroviral transforming sequence b; Cbl proto-oncogene B, E3 ubiquitin protein ligase; Cbl proto-oncogene, E3 ubiquitin protein ligase B; E3 ubiquitin-protein ligase CBL-B isoform b; E3 ubiquitin-protein ligase CBL-B; RING finger protein 56; RING-type E3 ubiquitin transferase CBL-B; SH3-binding protein CBL-B; casitas B-lineage lymphoma proto-oncogene b; signal transduction protein CBL-B", "tax_id": 9606, "disease": "infantile onset multisystem autoimmune disease 3 (Disease Ontology:DOID:0061162); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); stomach carcinoma (Disease Ontology:DOID:5517); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:868); (R-HSA-983168)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "10022120;10086340;11062501;11087752;11237011;11350924;11375397;11526404;12177062;12646216;12842890;12880961;14661060;14734113;15224091;15224092;15273720;15571818;16228008;16595681;16849449;16954532;17020880;17081983;17679095;18452278;18662542;18669648;18691976;19028597;19352404;19452197;19489725;19549985;19651622;19851334;19874575;19940261;20525694;22158902;2261476;22645359;23851457;24715725;25505266;25576301;25892735;26154972;26992070;27428899;28904123;29237719;29317506;29493099;29557506;30410026;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33912179;33936100;33968037;34357683;34405274;34509645;34561969;35051231;35154160;35580925;36006710;36010968;36241641;36284347;37217939;38284251;38761804;39030301;40101708;7784085;9380723;9399639;9668046", "class_list": "", "function": "Deficiency of CBL and CBLB ubiquitin ligases leads to hyper T follicular helper cell responses and lupus by reducing BCL6 degradation., [RefSeq, PubMed]; E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Silencing CBLB in human monocyte-derived macrophages resulted in increased cytokine production and impaired down-modulation of dectin-1 and dectin-2 expression after C.albicans exposure., [RefSeq, PubMed]; This gene encodes an E3 ubiquitin-protein ligase which promotes proteosome-mediated protein degradation by transferring ubiquitin from an E2 ubiquitin-conjugating enzyme to a substrate. The encoded protein is involved in the regulation of immune response by limiting T-cell receptor, B-cell receptor, and high affinity immunoglobulin epsilon receptor activation. Studies in mouse suggest that this gene is involved in antifungal host defense and that its inhibition leads to increased fungal killing. Manipulation of this gene may be beneficial in implementing immunotherapies for a variety of conditions, including cancer, autoimmune diseases, allergies, and infections. [provided by RefSeq, Sep 2017]., [RefSeq]; [Circular RNA Cbl proto-oncogene B (circCBLB) inhibits proliferation, promotes apoptosis, and increases anti-inflammatory cytokine levels of fibroblast-like synoviocytes in 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 14, "reported_glycation": 0, "reported_snv": 8, "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": "A8K9S7;B7WNM4;Q13192;Q13193;Q3LIC0;Q63Z43;Q8IVC5", "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:0001784 phosphotyrosine residue binding;GO:0008270 zinc ion binding;GO:0005509 calcium ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0030971 receptor tyrosine kinase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0045121 membrane raft;GO:0098794 postsynapse", "go_biological_process": "GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0050821 protein stabilization;GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway;GO:0070534 protein K63-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q13191-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NB3-1", "uniprot_id": [ { "id": "ZN830_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NB3", "type": "external" } ], "mass": 41999.0, "length": 372, "protein_name": "Zinc finger protein 830", "gene_name": "ZNF830", "organism": "Human", "refseq_name": "zinc finger protein 830", "refseq_ac": [ { "id": "NP_443089", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443089", "type": "external" } ], "gene_names_uniprotkb": "ZNF830; CCDC16", "gene_names_refseq": "CCDC16; OMCG1; ZNF830", "protein_names_uniprotkb": "Zinc finger protein 830; Coiled-coil domain-containing protein 16", "protein_names_refseq": "coiled-coil domain containing 16; coiled-coil domain-containing protein 16; hypothetical protein MGC20398; orphan maintenance of genome 1; zinc finger protein 830", "tax_id": 9606, "disease": "", "pathway": " (hsa:91603); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-72163)", "pathway_count": 6, "publication_count": 166, "publication_id_list": "10882114;10944529;11014198;11101529;11233976;11237011;11904382;11991638;12176931;12208738;12411573;12414731;12477934;12660172;12732143;14517266;14625303;14713954;15590680;16246722;16314458;16751180;16809785;17000769;17081983;17095540;17290000;17332742;17466625;17466626;17525332;17606899;17948053;17981804;18079701;18322460;18452278;18593880;18614043;18669648;19103666;19165350;19279666;19536130;19651622;19690332;19773279;19940136;20068231;20166139;20227374;20423332;20541997;20980672;21070792;21282463;21406692;21536652;2176635;22081108;22110043;22118460;22365833;22466610;22466611;22466612;22902626;22959432;22961380;23186163;23222130;23236153;23345524;23481700;23906714;23973375;24127601;24196718;24304693;24402227;24448447;24715725;24737827;24914973;25154395;25435140;25555158;2558966;25599396;26385511;26420826;26969736;27377154;27459055;27683217;27846572;27920218;28062851;28076346;28502770;28510447;28514659;28781166;28832583;28904123;29242379;29244158;29301961;29360106;29361316;29557506;29632711;2963332;30192525;30315122;30315277;30429286;30705154;30728453;30765414;30975767;31154438;31373491;31409651;31844290;31848261;32179686;32329775;32355176;32357974;32494006;32897882;32938616;33141586;33243851;33298915;33446560;33592498;33912179;33936100;33968037;33981976;34301950;34822310;35051231;35385551;37217939;3757028;40596516;7700386;8078911;8566756;8608946;8876179;9016565;9242493;9326587;9512519;9524131;9539711;9671485;9699634;9701291;9716411;9731529;9875289", "class_list": "", "function": "May play a role in pre-mRNA splicing as component of the spliceosome (PubMed:25599396). Acts as an important regulator of the cell cycle that participates in the maintenance of genome integrity. During cell cycle progression in embryonic fibroblast, prevents replication fork collapse, double-strand break formation and cell cycle checkpoint activation. Controls mitotic cell cycle progression and cell survival in rapidly proliferating intestinal epithelium and embryonic stem cells. During the embryo preimplantation, controls different aspects of M phase. During early oocyte growth, plays a role in oocyte survival by preventing chromosomal breaks formation, activation of TP63 and reduction of transcription (By similarity)., [UniProtKB, UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; ZNF830 mediates cancer chemoresistance through promoting homologous recombination repair., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q96F60;Q96GZ5;Q9BU38", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex;GO:0005694 chromosome", "go_biological_process": "GO:0044773 mitotic DNA damage checkpoint signaling;GO:0006396 RNA processing;GO:0043066 negative regulation of apoptotic process;GO:0051301 cell division;GO:0001541 ovarian follicle development", "synthesized_glycan_count": 0, "hit_score": 16.9, "record_id": "Q96NB3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96S65-1", "uniprot_id": [ { "id": "CSRN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96S65", "type": "external" } ], "mass": 63508.0, "length": 589, "protein_name": "Cysteine/serine-rich nuclear protein 1", "gene_name": "CSRNP1", "organism": "Human", "refseq_name": "cysteine/serine-rich nuclear protein 1 isoform b", "refseq_ac": [ { "id": "NP_001307489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307489", "type": "external" } ], "gene_names_uniprotkb": "CSRNP1; AXUD1; TAIP3", "gene_names_refseq": "AXUD1; CSRNP-1; CSRNP1; FAM130B; TAIP-3; URAX1", "protein_names_uniprotkb": "Cysteine/serine-rich nuclear protein 1; Axin-1 up-regulated gene 1 protein; CSRNP-1; Protein URAX1; TAIP-3; TGF-beta-induced apoptosis protein 3", "protein_names_refseq": "AXIN1 up-regulated 1; TGF-beta-induced apoptosis protein 3; axin-1 up-regulated gene 1 protein; cysteine/serine-rich nuclear protein 1 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:64651)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11526492;23292452;25892735;29493099;29557506;30440036;30833945;31154438;31844290;32387766;32983136;33141586;33592498;33717175;34932366;35051231;35580925;36010968;36284347;38908423", "class_list": "", "function": "Binds to the consensus sequence 5'-AGAGTG-3' and has transcriptional activator activity (By similarity). May have a tumor-suppressor function. May play a role in apoptosis., [UniProtKB, PubMed]; CFos bound to the AP-1 cis element within the proximal MMP1 promoter only when the gene was transcriptionally silent as previously observed for MMP13. cFos contributes to MMP1 expression. Silencing of ATF3 (a prime MMP13 modulator) did not affect MMP1 expression whilst silencing CSRNP1 resulted in substantial repression of MMP1 but not MMP13. Publication Status: Online-Only, [RefSeq, PubMed]; Silencing of cysteine and serine rich nuclear protein 1 inhibits apoptosis, senescence and collagen degradation in human-derived vaginal fibroblasts in response to oxidative stress or DNA damage., [RefSeq, PubMed]; This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]; Three candidate tumor-suppressor genes, SEMA3B, AXUD1 and GNAT1 may be involved in oral squamous cell carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q69YY5", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;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: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:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q96S65-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZW49-6", "uniprot_id": [ { "id": "PAXI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZW49", "type": "external" } ], "mass": 121341.0, "length": 1069, "protein_name": "PAX-interacting protein 1", "gene_name": "PAXIP1", "organism": "Human", "refseq_name": "PAX-interacting protein 1", "refseq_ac": [ { "id": "NP_031375", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031375", "type": "external" } ], "gene_names_uniprotkb": "PAXIP1; CAGF28; PAXIP1L; PTIP", "gene_names_refseq": "CAGF28; CAGF29; PACIP1; PAXIP1L; PAXIP1; PTIP; TNRC2", "protein_names_uniprotkb": "PAX-interacting protein 1; PAX transactivation activation domain-interacting protein", "protein_names_refseq": "PAX interacting (with transcription-activation domain) protein 1; PAX transcription activation domain interacting protein 1 like; PAX-interacting protein 1; protein encoded by CAG trinucleotide repeats", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:22976); (R-HSA-5617472); (R-HSA-5693571); (R-HSA-9772755); (R-HSA-9818564); (R-HSA-9841922)", "pathway_count": 6, "publication_count": 229, "publication_id_list": "10425206;10558993;10572166;10757784;10777502;10835357;10882139;11027271;11493912;11604075;11702069;11940591;11955432;12023295;12077346;12186630;12231622;12393701;12482972;12509254;12670868;12829629;12897153;12947387;1310260;14561766;14576432;14636557;14992727;15177042;15199122;15451442;15456759;15468306;15574327;15723659;15867264;16061182;16079151;16093244;16227571;16239140;16380219;16439204;16439205;16549775;16600297;16829959;16874298;16878130;16892064;16914548;17178841;17185360;17290226;17355966;17428788;17470781;17500065;1756725;17612494;17660710;17671196;17690115;17713478;17761849;17761950;17851529;17925232;17998332;18046455;18353733;18397950;18598942;18781158;18829457;18829459;18838386;18838538;19043829;19103755;19115252;19124460;19172745;19187761;19232136;19505854;19556245;19651622;19723507;19747919;1975088;19782034;19854132;20018852;20068231;20085832;20088963;20575550;20716525;20961854;21106533;21124902;21131905;21135039;21220120;22179609;22266653;22327296;22529269;22569366;22652693;22665483;22705304;22879880;23186163;23219899;23306437;23333306;23481700;23505375;23508102;23534758;23630040;23727112;23995757;24174538;24236237;24244196;24312487;24368734;24586203;24680668;24715725;25101834;25135475;25512557;25561738;25593305;2570724;25818648;25841101;25880248;25913784;26154972;26324722;26375851;26886794;26992070;27563068;27698142;27760318;27846572;27862975;28182322;28228285;28398509;28446606;28832583;28834231;28904123;29138278;29242379;29393594;29493099;29557506;29632711;29769354;29897600;29937342;30315122;30524438;31092671;31400120;31485071;31544921;31844290;32157095;32161166;32387766;32897882;32938616;33141586;33329381;33657400;33691108;33717175;33936100;33968037;33981976;34012049;34019948;34087483;34171305;34509645;34933446;35033534;35051231;35190547;35318648;35354042;35439434;35580925;35768906;36241641;38244928;39097652;41350704;7488013;7501971;7831296;7906964;7908827;8422676;8521497;8521498;8674428;8759021;9065481;9171241;9218805;9225980;9259561;9272954;9430729;9482740;9512523;9744270;9826654", "class_list": "", "function": "HPTIP (PAXIP1) shows increased association with 53BP1 in response to ionizing radiation but not in response to other DNA-damaging agents., [RefSeq, PubMed]; Identified tandem BRCT (BRCA1 carboxyl-terminal) domains in PTIP and in BRCA1 as phosphoserine- or phosphothreonine-specific binding modules that recognize substrates phosphorylated by the kinases ATM and ATR in response to gamma-irradiation, [RefSeq, PubMed]; Involved in DNA damage response and in transcriptional regulation through histone methyltransferase (HMT) complexes. Plays a role in early development. In DNA damage response is required for cell survival after ionizing radiation. In vitro shown to be involved in the homologous recombination mechanism for the repair of double-strand breaks (DSBs). Its localization to DNA damage foci requires RNF8 and UBE2N. Recruits TP53BP1 to DNA damage foci and, at least in particular repair processes, effective DNA damage response appears to require the association with TP53BP1 phosphorylated by ATM at 'Ser-25'. Together with TP53BP1 regulates ATM association. Proposed to recruit PAGR1 to sites of DNA damage and the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage; the function is probably independent of MLL-containing histone methyltransferase (HMT) complexes. However, this function has been questioned (By similarity). Promotes ubiquitination of PCNA following UV irradiation and may regulate recruitment of polymerase eta and RAD51 to chromatin after DNA damage. Proposed to be involved in transcriptional regulation by linking MLL-containing histone methyltransferase (HMT) complexes to gene promoters by interacting with promoter-bound transcription factors such as PAX2. Associates with gene promoters that are known to be regulated by KMT2D/MLL2. During immunoglobulin class switching in activated B-cells is involved in trimethylation of histone H3 at 'Lys-4' and in transcription initiation of downstream switch regions at the immunoglobulin heavy-chain (Igh) locus; this function appears to involve the recruitment of MLL-containing HMT complexes. Conflictingly, its function in transcriptional regulation during immunoglobulin class switching is reported to be independent of the MLL2/MLL3 complex (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Longitudinal profiling identifies co-occurring BRCA1/2 reversions, TP53BP1, RIF1 and PAXIP1 mutations in PARP inhibitor-resistant advanced breast cancer., [RefSeq, PubMed]; PTIP (PAXIP1) is a strong inhibitor of the trans-activation activities of Pax2A and Pax2B on the glucagon gene promoter and p8 binding to PTIP prevents inhibition of this promoter., [RefSeq, PubMed]; PTIP epigenetically regulates DNA damage-induced cell cycle arrest by upregulating PRDM1. Publication Status: Online-Only, [RefSeq, PubMed]; PTIP governs NAD(+) metabolism by regulating CD38 expression to drive macrophage inflammation., [RefSeq, PubMed]; Polymorphisms in the HSF2, LRRC6, MEIG1 and PTIP genes correlate with sperm motility in idiopathic infertility., [RefSeq, PubMed]; This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation of chromatin and progression through mitosis. [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": 8, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 22, "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": "O15404;Q6N099;Q6ZWH9;Q7Z315;Q86UN0;Q8N4P9;Q96HP2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016363 nuclear matrix;GO:0005694 chromosome;GO:0035097 histone methyltransferase complex", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0060717 chorion development;GO:0001570 vasculogenesis;GO:0006281 DNA repair;GO:0006310 DNA recombination", "synthesized_glycan_count": 0, "hit_score": 23.2, "record_id": "Q6ZW49-6", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5EBL8-1", "uniprot_id": [ { "id": "PDZ11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5EBL8", "type": "external" } ], "mass": 16131.0, "length": 140, "protein_name": "PDZ domain-containing protein 11", "gene_name": "PDZD11", "organism": "Human", "refseq_name": "PDZ domain-containing protein 11 isoform 1", "refseq_ac": [ { "id": "NP_057568", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057568", "type": "external" } ], "gene_names_uniprotkb": "PDZD11; AIPP1; HSPC227; PDZK11; PISP; PRO21335", "gene_names_refseq": "AIPP1; PDZD11; PDZK11; PISP", "protein_names_uniprotkb": "PDZ domain-containing protein 11; ATPase-interacting PDZ protein; PMCA-interacting single-PDZ protein; Plasma membrane calcium ATPase-interacting single-PDZ protein", "protein_names_refseq": "ATPase-interacting PDZ protein; PDZ domain-containing protein 11 isoform 1; PDZ domain-containing protein 11; PMCA-interacting single-PDZ protein; plasma membrane calcium ATPase-interacting single-PDZ protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:51248); (R-HSA-196780); (R-HSA-199220); (R-HSA-425397); (R-HSA-6803544); (R-HSA-936837)", "pathway_count": 6, "publication_count": 109, "publication_id_list": "10064314;10329687;10334869;10401004;10484781;10567687;10615129;10677481;10767338;11158296;12646417;12757929;12763866;12815048;12975309;14766011;15592455;15831496;15919184;15925480;16051599;16134170;16150625;16182249;1656976;16700898;17016520;17242360;17389395;18297087;18723824;19061983;19345671;19429682;19878721;19901323;20153287;21183659;2160952;22123817;22186024;22389498;23028306;23033978;23196729;24366607;24392018;25418920;25576301;26055706;26992070;27044745;27067231;27322068;27846572;27920218;28218747;2868710;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29605689;29632046;29632711;30315122;30429286;30463011;30484775;31004344;31844290;31998317;32157095;32234503;32371390;32387766;32502341;32897882;32938616;32983136;33691108;33968037;34932366;35580925;35714771;36241641;36284347;36983025;37938771;6832622;6883721;7509806;7626145;7732023;8045293;8298639;8490646;8490659;8930409;8934567;9096318;9147644;9307043;9516450;9630604", "class_list": "", "function": "Cooperative binding of the tandem WW domains of PLEKHA7 to PDZD11 promotes conformation-dependent interaction with tetraspanin 33., [RefSeq, PubMed]; Mediates docking of ADAM10 to zonula adherens by interacting with PLEKHA7 which is required for PLEKHA7 to interact with the ADAM10-binding protein TSPAN33., [UniProtKB, PubMed]; PDZD11 forms a complex with nectin-1 and nectin-3, and its PDZ domain interacts directly with the PDZ-binding motif of nectin-1., [RefSeq, PubMed]; PDZD11 is an interacting partner with sodium-dependent multivitamin transporter in intestinal epithelial cells and that this interaction affects SMVT function and cell biology., [RefSeq, PubMed]; The PLEKHA7-PDZD11 complex regulates the localization of the calcium pump PMCA and calcium handling in cultured 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": 3, "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": "D3DVU3;Q6UWE1;Q9P0Q1", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005911 cell-cell junction;GO:0005912 adherens junction;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0046931 pore complex assembly;GO:0007269 neurotransmitter secretion;GO:0048489 synaptic vesicle transport;GO:0008582 regulation of synaptic assembly at neuromuscular junction", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q5EBL8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75069-1", "uniprot_id": [ { "id": "TMCC2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75069", "type": "external" } ], "mass": 77449.0, "length": 709, "protein_name": "Transmembrane and coiled-coil domains protein 2", "gene_name": "TMCC2", "organism": "Human", "refseq_name": "transmembrane and coiled-coil domains protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001229854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229854", "type": "external" } ], "gene_names_uniprotkb": "TMCC2; KIAA0481; hucep-11", "gene_names_refseq": "HUCEP11; TMCC2", "protein_names_uniprotkb": "Transmembrane and coiled-coil domains protein 2; Cerebral protein 11", "protein_names_refseq": "cerebral protein 11; transmembrane and coiled-coil domains protein 2 isoform 2; transmembrane and coiled-coil domains protein 2", "tax_id": 9606, "disease": "alcohol-related neurodevelopmental disorder (Disease Ontology:DOID:0050667)", "pathway": " (hsa:9911)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;15345747;19664994;21593558;23186163;24454821;24715725;25576301;29557506;30220460;30779550;31844290;32157095;32983136;35051231", "class_list": "", "function": "May be involved in the regulation of the proteolytic processing of the amyloid precursor protein (APP) possibly also implicating APOE., [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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "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": "A2RRH3;B2RAX5;B3KTM7;B7Z1P7;Q6ZN09;Q7Z6C6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system;GO:0016020 membrane", "go_biological_process": "GO:0042982 amyloid precursor protein metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "O75069-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5I0X7-1", "uniprot_id": [ { "id": "TTC32_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5I0X7", "type": "external" } ], "mass": 17296.0, "length": 151, "protein_name": "Tetratricopeptide repeat protein 32", "gene_name": "TTC32", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 32", "refseq_ac": [ { "id": "NP_001008238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008238", "type": "external" } ], "gene_names_uniprotkb": "TTC32", "gene_names_refseq": "TTC32", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 32; TPR repeat protein 32", "protein_names_refseq": "TPR repeat protein 32; tetratricopeptide repeat protein 32", "tax_id": 9606, "disease": "", "pathway": " (hsa:130502)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;24397554;26154972;26811146;28514659;28904123;29393594;29557506;30315122;30410026;31092671;31154438;31530632;31844290;32357974;32387766;32488085;32897882;33009702;33298915;33630763;33691108;33912179;33936100;33981976;34561969;35580925", "class_list": "", "function": "Association study of genetic variants at TTC32-WDR35 gene cluster with coronary artery disease in Chinese Han population., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q5I0X7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P38432-1", "uniprot_id": [ { "id": "COIL_HUMAN", "url": "https://www.uniprot.org/uniprot/P38432", "type": "external" } ], "mass": 62608.0, "length": 576, "protein_name": "Coilin", "gene_name": "COIL", "organism": "Human", "refseq_name": "coilin", "refseq_ac": [ { "id": "NP_004636", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004636", "type": "external" } ], "gene_names_uniprotkb": "COIL; CLN80", "gene_names_refseq": "CLN80; COIL; p80-coilin", "protein_names_uniprotkb": "Coilin; p80-coilin", "protein_names_refseq": "coilin p80; coilin", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); alcohol dependence (Disease Ontology:DOID:0050741); stroke (Disease Ontology:DOID:0051061); withdrawal disorder (Disease Ontology:DOID:0060001); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); Wernicke-Korsakoff syndrome (Disease Ontology:DOID:10915); opioid abuse (Disease Ontology:DOID:11206); neurohypophyseal diabetes insipidus (Disease Ontology:DOID:12388); alcohol use disorder (Disease Ontology:DOID:1574); anxiety disorder (Disease Ontology:DOID:2030); opiate dependence (Disease Ontology:DOID:2559); temporal lobe epilepsy (Disease Ontology:DOID:3328); hyperglycemia (Disease Ontology:DOID:4195); schizophrenia (Disease Ontology:DOID:5419); vascular dementia (Disease Ontology:DOID:8725); type 2 diabetes mellitus (Disease Ontology:DOID:9352); diabetes insipidus (Disease Ontology:DOID:9409); type 1 diabetes mellitus (Disease Ontology:DOID:9744); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:8161)", "pathway_count": 1, "publication_count": 80, "publication_id_list": "11102515;11237011;11641277;11862315;12361597;15302935;15862129;16079131;16565220;16964243;17081983;17287340;18452278;18669648;18767875;19413330;19415658;19651622;19664994;19664995;19691289;20058876;20068231;2033369;20875822;21072240;21406692;21920476;21991343;22547674;23186163;23301498;23481700;23616925;23685356;23726919;24275569;24715725;25576301;25645385;25755297;26068304;28218747;28510447;28649982;28832583;28834231;28904123;29242379;29331515;29437277;29632711;29934401;30315122;30429286;30524438;31527692;31844290;31848261;31998317;32157095;32357974;32387766;32502341;32938616;32983136;33298915;33592498;33968037;33981976;34019948;34087483;34319763;34509645;35051231;36010968;37795984;7679389;7971277;9013710", "class_list": "", "function": "Coilin enhances phosphorylation and stability of DGCR8 and promotes miRNA biogenesis., [RefSeq, PubMed]; Component of nuclear coiled bodies, also known as Cajal bodies or CBs, which are involved in the modification and assembly of nucleoplasmic snRNPs., [UniProtKB, PubMed]; The Cajal body protein p80-coilin forms a complex with the adenovirus L4-22K protein and facilitates the nuclear export of adenovirus mRNA., [RefSeq, PubMed]; The protein encoded by this gene is an integral component of Cajal bodies (also called coiled bodies). Cajal bodies are nuclear suborganelles of varying number and composition that are involved in the post-transcriptional modification of small nuclear and small nucleolar RNAs. The N-terminus of the coilin protein directs its self-oligomerization while the C-terminus influences the number of nuclear bodies assembled per cell. Differential methylation and phosphorylation of coilin likely influences its localization among nuclear bodies and the composition and assembly of Cajal bodies. This gene has pseudogenes on chromosome 4 and chromosome 14. [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": 28, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 20, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R931", "ec_number_list": [], "go_molecular_function": "GO:0030620 U2 snRNA binding;GO:0042802 identical protein binding;GO:0030619 U1 snRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016020 membrane;GO:0001650 fibrillar center", "go_biological_process": "GO:0000387 spliceosomal snRNP assembly", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "P38432-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYR7-1", "uniprot_id": [ { "id": "KRA32_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYR7", "type": "external" } ], "mass": 10407.0, "length": 98, "protein_name": "Keratin-associated protein 3-2", "gene_name": "KRTAP3-2", "organism": "Human", "refseq_name": "keratin-associated protein 3-2", "refseq_ac": [ { "id": "NP_114165", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114165", "type": "external" } ], "gene_names_uniprotkb": "KRTAP3-2; KAP3.2; KRTAP3.2", "gene_names_refseq": "KAP3.2; KRTAP3-2; KRTAP3.2", "protein_names_uniprotkb": "Keratin-associated protein 3-2; High sulfur keratin-associated protein 3.2; Keratin-associated protein 3.2", "protein_names_refseq": "high sulfur keratin-associated protein 3.2; keratin associated protein 3.2; keratin-associated protein 3-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:83897); (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": 11, "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: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": "Q9BYR7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NDC0-1", "uniprot_id": [ { "id": "MISSL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NDC0", "type": "external" } ], "mass": 24269.0, "length": 245, "protein_name": "MAPK-interacting and spindle-stabilizing protein-like", "gene_name": "MAPK1IP1L", "organism": "Human", "refseq_name": "MAPK-interacting and spindle-stabilizing protein-like", "refseq_ac": [ { "id": "NP_653179", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653179", "type": "external" } ], "gene_names_uniprotkb": "MAPK1IP1L; C14orf32", "gene_names_refseq": "C14orf32; MAPK1IP1L; MISS; c14_5346", "protein_names_uniprotkb": "MAPK-interacting and spindle-stabilizing protein-like; Mitogen-activated protein kinase 1-interacting protein 1-like", "protein_names_refseq": "MAPK-interacting and spindle-stabilizing protein-like; MAPK-interacting and spindle-stabilizing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:93487)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "17081983;18691976;19413330;19651622;20068231;21406692;23186163;23481700;24715725;25502872;25576301;27846572;28228285;28832583;29242379;29351928;29485866;29557506;31637018;31844290;32157095;32387766;32938616;32938750;32983136;33043033;33298915;33392160;33592498;33691108;33968037;34019948;34357683;35051231;35154160;39531497", "class_list": "", "function": "", "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": 1, "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": 10, "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": 2, "disease_count": 0, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "B2RDD8;Q96BG5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q8NDC0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13547-1", "uniprot_id": [ { "id": "HDAC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13547", "type": "external" } ], "mass": 55103.0, "length": 482, "protein_name": "Histone deacetylase 1", "gene_name": "HDAC1", "organism": "Human", "refseq_name": "histone deacetylase 1", "refseq_ac": [ { "id": "NP_004955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004955", "type": "external" } ], "gene_names_uniprotkb": "HDAC1; RPD3L1", "gene_names_refseq": "GON-10; HD1; HDAC1; KDAC1; RPD3L1; RPD3", "protein_names_uniprotkb": "Histone deacetylase 1; 3.5.1.-; 3.5.1.98; HD1; Protein deacetylase HDAC1; Protein deacylase HDAC1", "protein_names_refseq": "histone deacetylase 1; protein deacetylase HDAC1; protein deacylase HDAC1; protein decrotonylase HDAC1; reduced potassium dependency, yeast homolog-like 1", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); glaucoma (Disease Ontology:DOID:1686); multiple sclerosis (Disease Ontology:DOID:2377); breast carcinoma (Disease Ontology:DOID:3459); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); pulmonary hypertension (Disease Ontology:DOID:6432); prostate carcinoma in situ (Disease Ontology:DOID:8634); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); colorectal cancer (Disease Ontology:DOID:9256); type 1 diabetes mellitus (Disease Ontology:DOID:9744); alopecia areata (Disease Ontology:DOID:986); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:3065); (R-HSA-1362277); (R-HSA-1362300); (R-HSA-1538133); (R-HSA-193670); (R-HSA-201722); (R-HSA-2122947); (R-HSA-2173795); (R-HSA-2173796); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-3214815); (R-HSA-350054); (R-HSA-3769402); (R-HSA-427389); (R-HSA-427413); (R-HSA-4551638); (R-HSA-4641265); (R-HSA-6804758); (R-HSA-69205); (R-HSA-73762); (R-HSA-8936459); (R-HSA-8943724); (R-HSA-9018519); (R-HSA-9022538); (R-HSA-9022692); (R-HSA-9022699); (R-HSA-9022702); (R-HSA-9615017); (R-HSA-9679191); (R-HSA-9701898); (R-HSA-9725371); (R-HSA-9764725); (R-HSA-9824594); (R-HSA-9825892); (R-HSA-983231); (R-HSA-9843940); (R-HSA-9844594); (R-HSA-9845323); (R-HSA-9856649); (R-HSA-9937850); (R-HSA-9940951); (R-HSA-9976102)", "pathway_count": 43, "publication_count": 892, "publication_id_list": 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"class_list": "", "function": "HDAC4 influences the DNA damage response and counteracts senescence by assembling with HDAC1/HDAC2 to control H2BK120 acetylation and homology-directed repair., [RefSeq, PubMed]; Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of eukaryotic gene expression. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family and is a component of the histone deacetylase complex. It also interacts with retinoblastoma tumor-suppressor protein and this complex is a key element in the control of cell proliferation and differentiation. Together with metastasis-associated protein-2, it deacetylates p53 and modulates its effect on cell growth and apoptosis. [provided by RefSeq, Jul 2008]., [RefSeq]; Histone deacetylase that catalyzes the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4) (PubMed:16762839, PubMed:17704056, PubMed:28497810). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events (PubMed:16762839, PubMed:17704056). Histone deacetylases act via the formation of large multiprotein complexes (PubMed:16762839, PubMed:17704056). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:28977666). As part of the SIN3B complex is recruited downstream of the constitutively active genes transcriptional start sites through interaction with histones and mitigates histone acetylation and RNA polymerase II progression within transcribed regions contributing to the regulation of transcription (PubMed:21041482). Also functions as a deacetylase for non-histone targets, such as NR1D2, RELA, SP1, SP3, STAT3, ZNF76 and TSHZ3 (PubMed:12837748, PubMed:16285960, PubMed:16337145, PubMed:16478997, PubMed:17996965, PubMed:19343227). Deacetylates SP proteins, SP1 and SP3, and regulates their function (PubMed:12837748, PubMed:16478997). Component of the BRG1-RB1-HDAC1 complex, which negatively regulates the CREST-mediated transcription in resting neurons (PubMed:19081374). Upon calcium stimulation, HDAC1 is released from the complex and CREBBP is recruited, which facilitates transcriptional activation (PubMed:19081374). Deacetylates TSHZ3 and regulates its transcriptional repressor activity (PubMed:19343227). Deacetylates 'Lys-310' in RELA and thereby inhibits the transcriptional activity of NF-kappa-B (PubMed:17000776). Deacetylates NR1D2 and abrogates the effect of KAT5-mediated relieving of NR1D2 transcription repression activity (PubMed:17996965). Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development (By similarity). Involved in CIART-mediated transcriptional repression of the circadian transcriptional activator: CLOCK-BMAL1 heterodimer (By similarity). Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex or CRY1 through histone deacetylation (By similarity). In addition to protein deacetylase activity, also has protein-lysine deacylase activity: acts as a protein decrotonylase and delactylase by mediating decrotonylation ((2E)-butenoyl) and delactylation (lactoyl) of histones, respectively (PubMed:28497810, PubMed:35044827)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Interplay between DOT1L and HDAC1 regulates Leishmania donovani infection in human THP-1 cells., [RefSeq, PubMed]; PHF12 regulates HDAC1 to promote tumorigenesis via EGFR/AKT signaling pathway in non-small cell lung 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": 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": 18, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 12, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q92534", "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": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "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": "2.7.11.22", "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": "3.1.3.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.11", "type": "external" }, { "id": "2.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.37", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.1.1", "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": "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": "3.1.3.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.9", "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": "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": "2.3.1.48", "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": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "2.1.1.356", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.356", "type": "external" }, { "id": "2.3.1.57", "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": "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": "2.1.1.361", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.361", "type": "external" } ], "go_molecular_function": "GO:0035851 Krueppel-associated box domain binding;GO:0019899 enzyme binding;GO:0046872 metal ion 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:0043025 neuronal cell body", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:0009913 epidermal cell differentiation;GO:1902455 negative regulation of stem cell population maintenance;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 89.8, "record_id": "Q13547-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCS7-1", "uniprot_id": [ { "id": "SYF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCS7", "type": "external" } ], "mass": 100010.0, "length": 855, "protein_name": "Pre-mRNA-splicing factor SYF1", "gene_name": "XAB2", "organism": "Human", "refseq_name": "pre-mRNA-splicing factor SYF1", "refseq_ac": [ { "id": "NP_064581", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064581", "type": "external" } ], "gene_names_uniprotkb": "XAB2; HCNP; KIAA1177; PP3898; SYF1", "gene_names_refseq": "HCNP; HCRN; NTC90; SYF1; XAB2", "protein_names_uniprotkb": "Pre-mRNA-splicing factor SYF1; Protein HCNP; XPA-binding protein 2", "protein_names_refseq": "SYF1 homolog, RNA splicing factor; SYF1 pre-mRNA-splicing factor; crn-related protein kim1; pre-mRNA-splicing factor SYF1", "tax_id": 9606, "disease": "", "pathway": " (hsa:56949); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-72163); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 226, "publication_id_list": 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"class_list": "", "function": "Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28076346, PubMed:28502770). Involved in transcription-coupled repair (TCR), transcription and pre-mRNA splicing (PubMed:10944529, PubMed:17981804)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; XAB2 TagSNP Is Associated with the Risk of Gastric Cancer in Chinese Population: A Case-Control Study. Publication Status: Online-Only, [RefSeq, PubMed]; XAB2 promotes Ku eviction from single-ended DNA double-strand breaks independently of the ATM kinase., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q8TET6;Q96HB0;Q96IW0;Q9NRG6;Q9ULP3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0071013 catalytic step 2 spliceosome;GO:0071014 post-mRNA release spliceosomal complex", "go_biological_process": "GO:0000349 generation of catalytic spliceosome for first transesterification step;GO:0006351 DNA-templated transcription;GO:0021987 cerebral cortex development;GO:0000398 mRNA splicing, via spliceosome;GO:0006283 transcription-coupled nucleotide-excision repair", "synthesized_glycan_count": 0, "hit_score": 22.9, "record_id": "Q9HCS7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00401-1", "uniprot_id": [ { "id": "WASL_HUMAN", "url": "https://www.uniprot.org/uniprot/O00401", "type": "external" } ], "mass": 54827.0, "length": 505, "protein_name": "Actin nucleation-promoting factor WASL", "gene_name": "WASL", "organism": "Human", "refseq_name": "actin nucleation-promoting factor WASL", "refseq_ac": [ { "id": "NP_003932", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003932", "type": "external" } ], "gene_names_uniprotkb": "WASL", "gene_names_refseq": "N-WASP; NWASP; WASL; WASPB", "protein_names_uniprotkb": "Actin nucleation-promoting factor WASL; N-WASP; Neural Wiskott-Aldrich syndrome protein", "protein_names_refseq": "Wiskott-Aldrich syndrome like; actin nucleation-promoting factor WASL; neural Wiskott-Aldrich syndrome protein", "tax_id": 9606, "disease": "atopic dermatitis (Disease Ontology:DOID:3310)", "pathway": " (hsa:8976); (R-HSA-2029482); (R-HSA-203641); (R-HSA-373753); (R-HSA-3928662); (R-HSA-418885); (R-HSA-5663213); (R-HSA-8856828); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013406); (R-HSA-9013409); (R-HSA-9013424); (R-HSA-9664422)", "pathway_count": 14, "publication_count": 584, "publication_id_list": 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38849;9490638;9497316;9582072;9582270;9600938;9635431;9659915;9670022;9705280;9736607;9778532;9792683;9799231;9822598;9829970;9843499;9846874;9857026;9883880;9885284;9950216;9988689", "class_list": "", "function": "IQGAP1 and NWASP promote human cancer cell dissemination and metastasis by regulating beta1-integrin via FAK and MRTF/SRF., [RefSeq, PubMed]; NWASP Inhibition Increases Wound Healing via TrKb/PLCgamma Signalling. Publication Status: Online-Only, [RefSeq, PubMed]; Neural Wiskott-Aldrich syndrome protein (N-WASP) promotes distant metastasis in pancreatic ductal adenocarcinoma via activation of LOXL2. Publication Status: Online-Only, [RefSeq, PubMed]; Polo-like kinase 1 promotes Cdc42-induced actin polymerization for asymmetric division in oocytes., [RefSeq, PubMed]; Regulates actin polymerization by stimulating the actin-nucleating activity of the Arp2/3 complex (PubMed:16767080, PubMed:19366662, PubMed:19487689, PubMed:22847007, PubMed:22921828, PubMed:9422512). Involved in various processes, such as mitosis and cytokinesis, via its role in the regulation of actin polymerization (PubMed:19366662, PubMed:19487689, PubMed:22847007, PubMed:22921828, PubMed:9422512). Together with CDC42, involved in the extension and maintenance of the formation of thin, actin-rich surface projections called filopodia (PubMed:9422512). In addition to its role in the cytoplasm, also plays a role in the nucleus by regulating gene transcription, probably by promoting nuclear actin polymerization (PubMed:16767080). Binds to HSF1/HSTF1 and forms a complex on heat shock promoter elements (HSE) that negatively regulates HSP90 expression (By similarity). Plays a role in dendrite spine morphogenesis (By similarity). Decreasing levels of DNMBP (using antisense RNA) alters apical junction morphology in cultured enterocytes, junctions curve instead of being nearly linear (PubMed:19767742)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 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": 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": 13, "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": "A1JUI9;Q7Z746", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0030695 GTPase regulator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051301 cell division;GO:0030036 actin cytoskeleton organization;GO:0008154 actin polymerization or depolymerization", "synthesized_glycan_count": 0, "hit_score": 58.8, "record_id": "O00401-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTR2-1", "uniprot_id": [ { "id": "NLRC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTR2", "type": "external" } ], "mass": 114658.0, "length": 1065, "protein_name": "NLR family CARD domain-containing protein 3", "gene_name": "NLRC3", "organism": "Human", "refseq_name": "NLR family CARD domain-containing protein 3", "refseq_ac": [ { "id": "NP_849172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_849172", "type": "external" } ], "gene_names_uniprotkb": "NLRC3; NOD3", "gene_names_refseq": "CLR16.2; NLRC3; NOD3", "protein_names_uniprotkb": "NLR family CARD domain-containing protein 3; CARD15-like protein; CLR16.2; Caterpiller protein 16.2; NACHT, LRR and CARD domains-containing protein 3; Nucleotide-binding oligomerization domain protein 3", "protein_names_refseq": "CARD15-like protein; NACHT, LRR and CARD domains-containing protein 3; NLR family CARD domain-containing protein 3; NOD-like receptor C3; caterpiller protein 16.2; nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:197358); (R-HSA-3270619)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "11035028;11237011;11839743;12133833;12692549;12766759;15210742;15705585;15944288;16281057;16306936;17483521;17526488;18818105;19307177;19433799;19776740;19926846;22394562;22579474;22619329;22718770;22863753;24560620;24714562;24715725;25277106;25645385;26992070;28218747;28832583;28904123;29242379;29393594;29493099;29557506;29632711;30315122;31844290;32357974;32387766;32584509;33141586;33298915;33912179;33936100;34533122;35051231;35580925;36808166;37217939;37586455;37708849", "class_list": "", "function": "Decoding the IBD paradox: A triadic interplay between REG3, enterococci, and NOD2., [RefSeq, PubMed]; NLRC3 deficiency promotes hypoxia-induced pulmonary hypertension development via IKK/NF-kappaB p65/HIF-1alpha pathway. Review article, [RefSeq, PubMed]; NLRC3 inhibited Toll-like receptor (TLR)-dependent activation of the transcription factor NF-kappaB by interacting with the TLR signaling adaptor TRAF6, [RefSeq, PubMed]; NLRC3 is a potential prognostic biomarker that is correlated with immune cell infiltration in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; NLRC3 silencing accelerates the invasion of hepatocellular carcinoma cell via IL-6/JAK2/STAT3 pathway activation., [RefSeq, PubMed]; Negative regulator of the innate immune response (PubMed:15705585, PubMed:22863753, PubMed:25277106). Attenuates signaling pathways activated by Toll-like receptors (TLRs) and the DNA sensor STING/TMEM173 in response to pathogen-associated molecular patterns, such as intracellular poly(dA:dT), but not poly(I:C), or in response to DNA virus infection, including that of Herpes simplex virus 1 (HSV1) (By similarity) (PubMed:22863753). May affect TLR4 signaling by acting at the level of TRAF6 ubiquitination, decreasing the activating 'Lys-63'-linked ubiquitination and leaving unchanged the degradative 'Lys-48'-linked ubiquitination (PubMed:22863753). Inhibits the PI3K-AKT-mTOR pathway possibly by directly interacting with the posphatidylinositol 3-kinase regulatory subunit p85 (PIK3R1/PIK3R2) and disrupting the association between PIK3R1/PIK3R2 and the catalytic subunit p110 (PIK3CA/PIK3CB/PIK3CD) and reducing PIK3R1/PIK3R2 activation. Via its regulation of the PI3K-AKT-mTOR pathway, controls cell proliferation, predominantly in intestinal epithelial cells (By similarity). May also affect NOD1- or NOD2-mediated NF-kappa-B activation (PubMed:25277106). Might also affect the inflammatory response by preventing NLRP3 inflammasome formation, CASP1 cleavage and IL1B maturation (PubMed:25277106)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Post-transcriptional inhibition of luciferase reporter assays by the Nod-like receptor proteins NLRX1 and NLRC3., [RefSeq, PubMed]; This gene encodes a NOD-like receptor family member. The encoded protein is a cytosolic regulator of innate immunity. This protein directly interacts with stimulator of interferon genes (STING), to prevent its proper trafficking, resulting in disruption of STING-dependent activation of the innate immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]., [RefSeq]; This report describes the first cloning and characterization of a novel CATERPILLER gene, CLR16.2 that is located on human chromosome 16. The protein encoded by this gene has a typical NBD-LRR configuration., [RefSeq, PubMed]; [Knockdown of NLRC3 promotes proliferation and invasion of human 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q5EY36;Q8NF48;Q8NI01;Q8NI02;Q8TEL3", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0036312 phosphatidylinositol 3-kinase regulatory subunit binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0032715 negative regulation of interleukin-6 production;GO:0032720 negative regulation of tumor necrosis factor production;GO:0042110 T cell activation;GO:0050680 negative regulation of epithelial cell proliferation;GO:0050728 negative regulation of inflammatory response", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q7RTR2-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JWF2-1", "uniprot_id": [ { "id": "GNAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JWF2", "type": "external" } ], "mass": 111025.0, "length": 1037, "protein_name": "Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas", "gene_name": "GNAS", "organism": "Human", "refseq_name": "protein GNAS isoform XLas", "refseq_ac": [ { "id": "NP_536350", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_536350", "type": "external" } ], "gene_names_uniprotkb": "GNAS; GNAS1; GSP", "gene_names_refseq": "AHO; AIMAH1; C20orf45; GNAS1; GNAS; GPSA; GSA; GSP; NESP; PITA3; POH; SCG6; SgVI", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas; 3.6.5.-; Adenylate cyclase-stimulating G alpha protein; Extra large alphas protein; XLalphas", "protein_names_refseq": "G protein subunit alpha S; adenylate cyclase-stimulating G alpha protein; alternative gene product encoded by XL-exon; extra large alphas protein; guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1; guanine nucleotide regulatory protein; protein ALEX; protein GNAS isoform XLas; secretogranin VI", "tax_id": 9606, "disease": "pseudohypoparathyroidism type 1C (Disease Ontology:DOID:0051013); pseudohypoparathyroidism type 1A (Disease Ontology:DOID:0080053); pseudohypoparathyroidism type 1B (Disease Ontology:DOID:0080222); polycystic kidney disease (Disease Ontology:DOID:0080322); progressive osseous heteroplasia (Disease Ontology:DOID:0111535); ACTH-independent macronodular adrenal hyperplasia 1 (Disease Ontology:DOID:0111623); pituitary adenoma 3 (Disease Ontology:DOID:0112010); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); pancreatic cancer (Disease Ontology:DOID:1793); McCune Albright syndrome (Disease Ontology:DOID:1858); pseudopseudohypoparathyroidism (Disease Ontology:DOID:4183); pseudohypoparathyroidism (Disease Ontology:DOID:4184); cholangiocarcinoma (Disease Ontology:DOID:4947); schizophrenia (Disease Ontology:DOID:5419); colorectal cancer (Disease Ontology:DOID:9256); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2778); (R-HSA-163359); (R-HSA-164378); (R-HSA-381676); (R-HSA-392851); (R-HSA-418555); (R-HSA-418594); (R-HSA-418597); (R-HSA-420092); (R-HSA-432040); (R-HSA-5610787); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9856530)", "pathway_count": 14, "publication_count": 439, "publication_id_list": "10200251;10318832;10322410;10376603;10496952;10571700;10634944;10639123;10649434;10698200;10714768;10729789;10749992;10764742;10954748;10966113;11007482;11029463;11034202;11043579;11060443;11067869;11071853;11076974;11237011;11294659;11313909;11375483;11450852;11583302;11600516;11773440;11788646;11853546;11926205;11946536;11968001;12034449;12036966;12058044;12106601;12120503;12135370;12176338;12180353;12180908;12192414;12194985;12391161;12401793;12410638;12435627;12446735;12475787;12496249;12624854;12656668;12719376;12724311;12727968;12771991;12801959;12858292;12860470;12938160;1325798;1333056;1347957;13549488;13680124;1373524;14514735;14561710;14592814;14603322;14671004;14675202;14701836;14723729;14988243;15087129;1510932;15148396;1517224;15242332;15245432;15304325;1534149;15464082;15471943;15539556;15569269;15592469;15703994;15705806;15718470;15765929;15769620;15800843;15817905;15930098;1594625;15951850;15955806;15980156;15995848;16061793;16110341;16120822;16136078;16229832;16254602;16311594;16313925;16339192;16396903;16407073;16407156;16460020;16493421;16613879;16634148;16645038;16687412;16707575;16780920;16923326;16959974;16973695;17027958;17095603;17110384;17156409;17168849;17178220;17200122;17306374;17379646;1739432;17442700;17444618;17545310;17553904;17641202;17762891;17900700;17960137;18044684;18202100;18202181;18287102;18327258;18412318;18434541;18455992;18511455;18566127;18577758;18678926;18710921;18832070;19000668;19020623;19105585;19144687;19170255;19196978;19223390;19286674;19342448;19365551;19383790;1939224;19412439;1944469;19549984;19574955;19592253;19666503;19723632;19741198;19767740;19776033;19859570;19861722;19876791;19877275;19906846;19929708;19931550;19948480;19996169;20067783;20068231;20154143;20207148;20381629;20395968;20412786;20443919;20460306;20844016;20852621;20889716;20956384;21036126;21044946;2105456;21209331;21488135;2163110;21695114;21801010;21844907;22007132;22231273;22391300;22480736;22495674;23209152;23332756;23333244;23719536;23863937;23994616;2417744;24273487;24302888;24339784;24530924;24687066;24714562;24715725;2474350;24845016;24863049;24917297;2491850;24925320;24952464;24962572;2534964;2549426;25502872;2553411;2553705;25810538;26190834;26206488;26308095;26417854;26811146;26987903;27120771;27392633;2748346;27566546;27797339;27862975;2826231;2834384;28450397;28467828;28502923;28595943;2871555;28904123;29443750;29493099;29557506;29602314;2991279;30078552;3024154;30429286;30484775;3049610;30524438;30833991;3093273;3104109;31154438;31205027;31217245;3127824;31279028;3131741;31399091;3141418;31844290;31983287;32157095;32161166;32193322;32226383;32296767;32350084;32357974;32387766;32488085;32497535;32502341;32540603;32618402;32715661;32870666;32897882;32928873;32938616;32983136;33049737;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34499618;34509645;34561969;34932366;35051231;35154160;35251023;35318648;35418677;35418678;35418679;35561310;35580925;35714614;35982227;36010968;36241641;36593162;36931277;37217939;37327704;37935376;37935377;37938771;38287118;38346960;38376112;38647423;38665916;38776963;3899557;39476841;39580805;39626010;39725093;39753132;40211064;40360475;4065330;40914422;6085243;6192430;6745415;7503232;7510718;7512962;7514139;7523385;7526388;7532011;7535000;7538665;7559455;7568118;7589426;7589461;7595566;7651538;7678419;7680413;7700244;7737262;7751320;7811244;7876172;7902709;7937899;8007951;8015379;8063828;8072545;8138058;8140421;8144028;8340388;8388883;8390245;8404634;8405712;8406495;8514797;8522976;8527267;8598224;8621513;8672451;8683474;8700127;8702633;8702665;8766942;8830891;8855281;9159128;9227644;9263355;9267696;9328353;9369468;9374639;9374640;9417641;9488697;9620797;9651336;9707596;9727013;9756892;9829975;9860993;9920805;9990065", "class_list": "", "function": "Analysis of the imprinting Status of Galpha(s), NESP55, and XLalphas in cell cultures derived from human embryonic germ cells, [RefSeq, PubMed]; GNAS locus has a highly complex imprinted expression pattern, giving rise to transcripts (including non-coding) that are maternally, paternally, or biallelically expressed., [RefSeq, PubMed]; Guanine nucleotide-binding proteins (G proteins) function as transducers in numerous signaling pathways controlled by G protein-coupled receptors (GPCRs)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; May inhibit the adenylyl cyclase-stimulating activity of guanine nucleotide-binding protein G(s) subunit alpha which is produced from the same locus in a different open reading frame., [UniProtKB, PubMed]; Neuroendocrine secretory protein 55 is found in a subset of neuroendocrine tumours showing differentiation towards adrenal chromaffin cells and pancreatic islets cells and not in ileal carcinoids, [RefSeq, PubMed]; This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 17, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2A2S3;E1P5G3;O75684;O75685;Q5JW67;Q5JWF1;Q9NY42", "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": "4.6.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.1", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.7.85", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.85", "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:0046872 metal ion binding;GO:0031683 G-protein beta/gamma-subunit complex binding;GO:0031748 D1 dopamine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0007565 female pregnancy;GO:0040015 negative regulation of multicellular organism growth;GO:0009306 protein secretion;GO:0120162 positive regulation of cold-induced thermogenesis;GO:0071107 response to parathyroid hormone", "synthesized_glycan_count": 0, "hit_score": 44.2, "record_id": "Q5JWF2-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92888-1", "uniprot_id": [ { "id": "ARHG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92888", "type": "external" } ], "mass": 102435.0, "length": 912, "protein_name": "Rho guanine nucleotide exchange factor 1", "gene_name": "ARHGEF1", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 1 isoform 2", "refseq_ac": [ { "id": "NP_004697", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004697", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF1", "gene_names_refseq": "ARHGEF1; GEF1; IMD62; LBCL2; LSC; P115-RHOGEF; SUB1.5", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 1; 115 kDa guanine nucleotide exchange factor; Sub1.5; p115-RhoGEF; p115RhoGEF", "protein_names_refseq": "115 kDa guanine nucleotide exchange factor; 115-kD protein; Lsc homolog; Rho guanine nucleotide exchange factor (GEF) 1; p115RhoGEF; rho guanine nucleotide exchange factor 1 isoform 2", "tax_id": 9606, "disease": "immunodeficiency 62 (Disease Ontology:DOID:0111991)", "pathway": " (hsa:9138); (R-HSA-193648); (R-HSA-416482); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106)", "pathway_count": 6, "publication_count": 284, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10747909;10873388;11058585;11085924;11207612;11237011;11283606;11294240;11313914;11373293;11396949;11431473;11432776;11524686;11606631;11672528;11680691;11689693;11704860;11742120;11756498;11804589;11804590;11884391;11912491;12071859;12093360;12097334;12101119;12123608;12195014;12221077;12221096;12270917;12433842;12473120;12515866;12531887;12650940;12754211;12857875;12877655;14512443;14673001;15023524;15064355;15107133;15302923;15342493;15470142;15485661;15601624;15611138;15699075;15749160;15850391;15866170;15944396;15951850;16112081;16116428;16184169;16212495;16217026;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16923326;16959974;16964243;17077126;17198702;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18374420;18577758;18669648;18802007;18829452;19212140;19494238;19605563;19635168;19651622;19673492;19713215;20030946;20058876;20068231;20098430;20101212;20112406;20400958;20591975;20628200;20660154;21148482;21351730;21373644;21454492;21565175;21576392;21699497;21757538;21865595;21936715;22096251;22298643;22305756;22661716;22673745;22790947;22911862;22992742;23186163;23200924;23255595;23301498;23434736;23481700;23572525;23870313;24086303;24128008;24259668;24275569;24335996;24352656;24715725;24933155;25211221;25414122;25418920;25425145;25645385;25673874;25704760;25810538;26154972;26371245;26375851;26529257;26811146;26887924;26929215;26992070;27072905;27145964;27216196;27481945;27600516;27846572;27920218;27986909;28112683;28179147;28196833;28218747;28228285;28467828;28510447;28584191;28655771;28832583;28834231;28855257;28904123;29071730;29146911;29242379;29393594;29437277;29485866;29493099;29508533;29557506;29632046;29632711;29786170;30007591;30315122;30410026;30429286;30521495;30524438;31105010;31844290;31871319;32157095;32203420;32350084;32357974;32387766;32502341;32808262;32881857;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33968037;34087483;34171305;34185709;34357683;34405274;34509645;34932366;35037717;35051231;35132862;35154160;35580925;36010968;36241641;36284347;37938771;40914422;7479768;7673236;7721814;7753201;7937899;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9135076;9305890;9308960;9418861;9490638;9497316;9520479;9535835;9548756;9641915;9641916;9659915;9670022;9792683;9796816;9822605;9829970", "class_list": "", "function": "Data indicate that the crystal structure of PDZ-RhoGEF PDZ domain in complex with the CXC chemokine receptor 2 (CXCR2) C-terminal PDZ binding motif., [RefSeq, PubMed]; Data suggest that MCP1/CCL2 induces activation/tyrosine phosphorylation of ARHGEF1/p115-RhoGEF and up-regulates RAC1 signaling in vascular smooth muscle cells (VSMCs); ARHGEF1 inhibition suppresses MCP1-induced VSMC migration and proliferation. (ARHGEF1 = Rho guanine nucleotide exchange factor 1; RAC1 = Rac family small GTPase 1; CCL2 = C-C motif chemokine ligand 2), [RefSeq, PubMed]; High ARHGEF1 expression is associated with asthmatic airway hyper-responsiveness., [RefSeq, PubMed]; Identification of Rho GEF and RhoA Activation by Pull-Down Assays., [RefSeq, PubMed]; Integrative multiomics and in silico analysis revealed the role of ARHGEF1 and its screened antagonist in mild and severe COVID-19 patients., [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. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]., [RefSeq]; Seems to play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13) subunits (PubMed:9641915, PubMed:9641916). Acts as a GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nucleotide exchange factor (GEF) for RhoA GTPase (PubMed:30521495, PubMed:8810315, PubMed:9641915, PubMed:9641916). Activated G alpha 13/GNA13 stimulates the RhoGEF activity through interaction with the RGS-like domain (PubMed:9641916). This GEF activity is inhibited by binding to activated GNA12 (PubMed:9641916). Mediates angiotensin-2-induced RhoA activation (PubMed:20098430). In lymphoid follicles, may trigger activation of GNA13 as part of S1PR2-dependent signaling pathway that leads to inhibition of germinal center (GC) B cell growth and migration outside the GC niche., [UniProtKB, PubMed, PubMed, PubMed, 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": 12, "reported_mutagensis": 2, "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": "O00513;Q6NX52;Q8N4J4;Q96BF4;Q96F17;Q9BSB1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005096 GTPase activator activity;GO:0001664 G protein-coupled receptor binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0007266 Rho protein signal transduction;GO:0160221 Rho-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 28.7, "record_id": "Q92888-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJ70-1", "uniprot_id": [ { "id": "NAGK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJ70", "type": "external" } ], "mass": 37376.0, "length": 344, "protein_name": "N-acetyl-D-glucosamine kinase", "gene_name": "NAGK", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "NAGK", "gene_names_refseq": "", "protein_names_uniprotkb": "N-acetyl-D-glucosamine kinase; 2.7.1.-; 2.7.1.59; 2.7.1.60; GlcNAc kinase; Muramyl dipeptide kinase; N-acetyl-D-mannosamine kinase; N-acetylglucosamine kinase", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:55577); (R-HSA-446210)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10198162;10824116;11237011;11707391;11726282;12112843;12174217;12665801;1460020;17010375;18669648;18675810;19690332;20068231;21073341;21310273;21872626;21993680;22223895;22692205;23186163;23481700;24275569;24714562;25576301;25802875;26758079;26992070;27600516;28228285;28832583;28834231;28904123;29242379;29508533;29557506;29632711;29786170;30315122;30429286;31844290;32157095;32350084;32357974;32488085;32502341;32938616;32983136;33298915;33912179;33936100;33968037;34087483;34725712;35008409;35051231;35580925;36002575;36010968;36284347;38665916;40914422;9990133", "class_list": "glycogene", "function": "Converts endogenous N-acetylglucosamine (GlcNAc), a major component of complex carbohydrates, from lysosomal degradation or nutritional sources into GlcNAc 6-phosphate (PubMed:22692205). Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway: although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded (PubMed:22692205). Also has N-acetylmannosamine (ManNAc) kinase activity (By similarity). Also involved in innate immunity by promoting detection of bacterial peptidoglycan by NOD2: acts by catalyzing phosphorylation of muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, to generate 6-O-phospho-muramyl dipeptide, which acts as a direct ligand for NOD2 (PubMed:36002575)., [UniProtKB, 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": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 512, "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": "B4DLZ5;Q53HD5;Q6IA84;Q9BS29;Q9BVP0;Q9NV37", "ec_number_list": [ { "id": "2.7.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.60", "type": "external" }, { "id": "2.7.1.59", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.59", "type": "external" }, { "id": "2.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.-", "type": "external" } ], "go_molecular_function": "GO:0009384 N-acylmannosamine kinase activity;GO:0005524 ATP binding;GO:0045127 N-acetylglucosamine kinase activity;GO:0160047 muramyl dipeptide kinase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006044 N-acetylglucosamine metabolic process;GO:0006046 N-acetylglucosamine catabolic process;GO:0045087 innate immune response;GO:0042742 defense response to bacterium;GO:0006048 UDP-N-acetylglucosamine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q9UJ70-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZ32-1", "uniprot_id": [ { "id": "ARP10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZ32", "type": "external" } ], "mass": 46307.0, "length": 417, "protein_name": "Actin-related protein 10", "gene_name": "ACTR10", "organism": "Human", "refseq_name": "actin-related protein 10", "refseq_ac": [ { "id": "NP_060947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060947", "type": "external" } ], "gene_names_uniprotkb": "ACTR10; ACTR11; ARP10; ARP11", "gene_names_refseq": "ACTR10; ACTR11; Arp10; Arp11; HARP11", "protein_names_uniprotkb": "Actin-related protein 10; Actin-related protein 11; hARP11", "protein_names_refseq": "actin related protein 10 homolog; actin-related protein 10; actin-related protein 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:55860); (R-HSA-2132295); (R-HSA-3371497); (R-HSA-6798695); (R-HSA-6807878); (R-HSA-6811436)", "pathway_count": 6, "publication_count": 314, "publication_id_list": 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"class_list": "", "function": "Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules., [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": 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": "Q9H9Y5;Q9NWY2", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005829 cytosol;GO:1904813 ficolin-1-rich granule lumen;GO:0035578 azurophil granule lumen", "go_biological_process": "GO:0098958 retrograde axonal transport of mitochondrion", "synthesized_glycan_count": 0, "hit_score": 31.7, "record_id": "Q9NZ32-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86U86-1", "uniprot_id": [ { "id": "PB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86U86", "type": "external" } ], "mass": 192948.0, "length": 1689, "protein_name": "Protein polybromo-1", "gene_name": "PBRM1", "organism": "Human", "refseq_name": "protein polybromo-1 isoform 2", "refseq_ac": [ { "id": "NP_060783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060783", "type": "external" } ], "gene_names_uniprotkb": "PBRM1; BAF180; PB1", "gene_names_refseq": "BAF180; PB1; PBRM1; RCC; SMARCH1", "protein_names_uniprotkb": "Protein polybromo-1; BAF180; BRG1-associated factor 180; Polybromo-1D; hPB1", "protein_names_refseq": "BRG1-associated factor 180; polybromo-1D; protein polybromo-1 isoform 2", "tax_id": 9606, "disease": "nonpapillary renal cell carcinoma (Disease Ontology:DOID:0050387); alcohol use disorder (Disease Ontology:DOID:1574); extrahepatic bile duct adenocarcinoma (Disease Ontology:DOID:3495); lung non-small cell carcinoma (Disease Ontology:DOID:3908); renal cell carcinoma (Disease Ontology:DOID:4450); intrahepatic cholangiocarcinoma (Disease Ontology:DOID:4928); lung small cell carcinoma (Disease Ontology:DOID:5409); Crohn's disease (Disease Ontology:DOID:8778); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:55193); (R-HSA-3214858); (R-HSA-8939243); (R-HSA-9933939)", "pathway_count": 4, "publication_count": 138, "publication_id_list": "10078207;11078522;11237011;11341840;11448779;11747826;11751582;11756452;11780067;12487023;12672490;15485929;15640446;15735765;15985610;16265664;16917507;16964243;17081983;17215844;17498659;17898714;18079182;18404153;18669648;18695000;18809673;19234465;19690332;20068231;20368734;20506188;20951943;21248752;21316606;21406692;21774791;22231400;22325351;22464331;22952240;23186163;23481700;24275569;24366607;24714562;24715725;25114211;25218447;25418920;25576301;25593309;25645385;25755297;25772364;25880248;25892735;26024233;26154972;26365797;26601204;26728094;26992070;27543614;27600516;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28446606;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29605689;29632046;29632711;29769354;29786170;30315122;30379171;30410026;30429286;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33298915;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34171305;34465901;34509645;34561969;34932366;35051231;35251023;35561310;35580925;36010968;36241641;36284347;36581221;36808431;37095322;37222312;37938771;38190100;38460939;40596516;8804307;9642256", "class_list": "", "function": "CDNA cloning; the hPB1 gene is located on chromosome 3p21, where the tumor suppressor genes for breast, lung and kidney cancers have been mapped, [RefSeq, PubMed]; Cancer-associated polybromo-1 bromodomain 4 missense variants variably impact bromodomain ligand binding and cell growth suppression., [RefSeq, PubMed]; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). Acts as a negative regulator of cell proliferation., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Multi-omics integration identifies cell-state-specific repression by PBRM1-PIAS1 cooperation., [RefSeq, PubMed]; PBRM1 bromodomains associate with RNA to facilitate chromatin association., [RefSeq, PubMed]; PBRM1-deficient PBAF complexes target aberrant genomic loci to activate the NF-kappaB pathway in clear cell renal cell carcinoma., [RefSeq, PubMed]; Relationship between body composition and PBRM1 mutations in clear cell renal cell carcinoma: a propensity score matching analysis. Publication Status: Online-Only, [RefSeq, PubMed]; This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [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": 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": 22, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 91, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A1L381;A1L382;A4FUJ7;Q1RMD1;Q1RMD2;Q96MS2;Q9H2T3;Q9H2T4;Q9H2T5;Q9H301;Q9H314", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016514 SWI/SNF complex;GO:0016363 nuclear matrix;GO:0000776 kinetochore", "go_biological_process": "GO:2000819 regulation of nucleotide-excision repair;GO:0000278 mitotic cell cycle;GO:0006338 chromatin remodeling;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q86U86-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13148-1", "uniprot_id": [ { "id": "TADBP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13148", "type": "external" } ], "mass": 44740.0, "length": 414, "protein_name": "TAR DNA-binding protein 43", "gene_name": "TARDBP", "organism": "Human", "refseq_name": "TAR DNA-binding protein 43", "refseq_ac": [ { "id": "NP_031401", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031401", "type": "external" } ], "gene_names_uniprotkb": "TARDBP; TDP43", "gene_names_refseq": "ALS10; TARDBP; TDP-43", "protein_names_uniprotkb": "TAR DNA-binding protein 43; TDP-43", "protein_names_refseq": "TAR DNA-binding protein 43; TAR DNA-binding protein-43", "tax_id": 9606, "disease": "obstructive sleep apnea (Disease Ontology:DOID:0050848); amyotrophic lateral sclerosis type 10 (Disease Ontology:DOID:0060201); frontotemporal dementia 2 (Disease Ontology:DOID:0060672); Alzheimer's disease (Disease Ontology:DOID:10652); Pick's disease (Disease Ontology:DOID:11870); Lewy body dementia (Disease Ontology:DOID:12217); neurodegenerative disease (Disease Ontology:DOID:1289); Parkinson's disease (Disease Ontology:DOID:14330); motor neuron disease (Disease Ontology:DOID:231); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); progressive supranuclear palsy (Disease Ontology:DOID:678); frontotemporal dementia (Disease Ontology:DOID:9255)", "pathway": " (hsa:23435)", "pathway_count": 1, "publication_count": 160, "publication_id_list": "11237011;11285240;11470789;16408927;17023659;17081983;17322306;17481916;18288693;18309045;18372902;18396105;18438952;18656473;18957508;19224587;19225410;19235466;19350673;19429692;19655382;19690332;19695877;19760257;19765185;20043239;20068231;20112406;20740007;20804554;21062285;21220647;21358640;21418058;22121020;22133678;22456481;22645359;23186163;23398327;23481700;23519609;23541532;23783831;24129315;24240615;24275569;24366607;24464995;24686783;25218447;25329970;25418920;25576301;25678563;25772364;25880248;26154972;26301107;26375851;26811146;26980269;26992070;27123980;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28514659;28599005;28663553;28794432;28832583;28834231;28860189;28904123;29242379;29331515;29334120;29393594;29437277;29438978;29493099;29508533;29531287;29557506;29632046;29632711;29786170;29789417;30120199;30315122;30410026;30429286;30464263;30484775;30520513;30779550;30833945;31154438;31217245;31222486;31306131;31529970;31530632;31834878;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32778941;32897882;32938616;32983136;33031745;33214551;33592498;33691108;33717175;33855783;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34357683;34725712;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37217939;37434215;37545536;37938771;38665916;39117455;39242776;39305312;39417407;40596516;40914422;7745706", "class_list": "", "function": "DNAJA2 and Hero11 mediate similar conformational extension and aggregation suppression of TDP-43. Publication Status: Online-Only, [RefSeq, PubMed]; HIV-1 Vpu induces neurotoxicity by promoting Caspase 3-dependent cleavage of TDP-43., [RefSeq, PubMed]; HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]., [RefSeq]; RNA-binding protein that is involved in various steps of RNA biogenesis and processing (PubMed:23519609). Preferentially binds, via its two RNA recognition motifs RRM1 and RRM2, to GU-repeats on RNA molecules predominantly localized within long introns and in the 3'UTR of mRNAs (PubMed:23519609, PubMed:24240615, PubMed:24464995). In turn, regulates the splicing of many non-coding and protein-coding RNAs including proteins involved in neuronal survival, as well as mRNAs that encode proteins relevant for neurodegenerative diseases (PubMed:21358640, PubMed:29438978). Plays a role in maintaining mitochondrial homeostasis by regulating the processing of mitochondrial transcripts (PubMed:28794432). Also regulates mRNA stability by recruiting CNOT7/CAF1 deadenylase on mRNA 3'UTR leading to poly(A) tail deadenylation and thus shortening (PubMed:30520513). In response to oxidative insult, associates with stalled ribosomes localized to stress granules (SGs) and contributes to cell survival (PubMed:19765185, PubMed:23398327). Also participates in the normal skeletal muscle formation and regeneration, forming cytoplasmic myo-granules and binding mRNAs that encode sarcomeric proteins (PubMed:30464263). Plays a role in the maintenance of the circadian clock periodicity via stabilization of the CRY1 and CRY2 proteins in a FBXL3-dependent manner (PubMed:27123980). Negatively regulates the expression of CDK6 (PubMed:19760257). Regulates the expression of HDAC6, ATG7 and VCP in a PPIA/CYPA-dependent manner (PubMed:25678563)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TARDBP drives T-cell acute lymphoblastic leukemia progression by binding MDM2 mRNA, involving beta-catenin pathway., [RefSeq, PubMed]; TDP-43 regulates LC3ylation in neural tissue through ATG4B cryptic splicing inhibition. 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": 12, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 10, "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": "A4GUK4;A4GUK5;A4GUK6;B2R629;B4DJ45;E2PU12;Q53H27;Q6FI92;Q96DJ0", "ec_number_list": [], "go_molecular_function": "GO:0097157 pre-mRNA intronic binding;GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005726 perichromatin fibrils;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0016607 nuclear speck", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0006351 DNA-templated transcription;GO:0006397 mRNA processing;GO:0010629 negative regulation of gene expression;GO:0032024 positive regulation of insulin secretion", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q13148-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P68363-1", "uniprot_id": [ { "id": "TBA1B_HUMAN", "url": "https://www.uniprot.org/uniprot/P68363", "type": "external" } ], "mass": 50152.0, "length": 451, "protein_name": "Tubulin alpha-1B chain", "gene_name": "TUBA1B", "organism": "Human", "refseq_name": "tubulin alpha-1B chain", "refseq_ac": [ { "id": "NP_006073", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006073", "type": "external" } ], "gene_names_uniprotkb": "TUBA1B", "gene_names_refseq": "K-ALPHA-1; TUBA1B", "protein_names_uniprotkb": "Tubulin alpha-1B chain; 3.6.5.-; Alpha-tubulin ubiquitous; Tubulin K-alpha-1; Tubulin alpha-ubiquitous chain", "protein_names_refseq": "alpha tubulin; alpha-tubulin ubiquitous; tubulin K-alpha-1; tubulin alpha-1B chain; tubulin alpha-ubiquitous chain; tubulin, alpha, ubiquitous", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); polymicrogyria (Disease Ontology:DOID:0080918); lissencephaly 3 (Disease Ontology:DOID:0112232); microlissencephaly (Disease Ontology:DOID:0112234)", "pathway": " (hsa:10376); (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-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-9013407); (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": 827, "publication_id_list": 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"class_list": "", "function": "Dynamic Network Biomarker of Pre-Exhausted CD8(+) T Cells Contributed to T Cell Exhaustion in Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Integrated regulation of tubulin tyrosination and microtubule stability by human alpha-tubulin isotypes., [RefSeq, PubMed]; Tubulin Alpha-1b as a Potential Biomarker for Lung Adenocarcinoma Diagnosis and Prognosis., [RefSeq, PubMed]; Tubulin is the major constituent of microtubules, protein filaments consisting of alpha- and beta-tubulin heterodimers (PubMed:38305685, PubMed:34996871, PubMed:38609661). Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms (PubMed:38305685, PubMed:34996871, PubMed:38609661). Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin (PubMed:34996871, PubMed:38609661)., [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": 1, "reported_o_glycosites_with_glycan": 23, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 23, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 23, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 24, "binding_glycan_count": 0, "secondary_ac_list": "P04687;P05209;Q27I68;Q8WU19", "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": "6.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.-", "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": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "5.6.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.3", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "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": "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": "2.3.1.168", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.168", "type": "external" }, { "id": "5.6.1.6", "url": 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"url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.25", "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": "3.1.2.-", "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": "2.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.13", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "6.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.-.-.-", "type": "external" }, { "id": "5.6.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.1", "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" }, { "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" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005200 structural constituent of cytoskeleton;GO:0005525 GTP binding;GO:0031625 ubiquitin protein ligase binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0005929 cilium;GO:0015630 microtubule cytoskeleton;GO:0005881 cytoplasmic microtubule", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0051301 cell division;GO:0030182 neuron differentiation;GO:0000226 microtubule cytoskeleton organization;GO:0030705 cytoskeleton-dependent intracellular transport", "synthesized_glycan_count": 0, "hit_score": 85.4, "record_id": "P68363-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95363-1", "uniprot_id": [ { "id": "SYFM_HUMAN", "url": "https://www.uniprot.org/uniprot/O95363", "type": "external" } ], "mass": 52357.0, "length": 451, "protein_name": "Phenylalanine--tRNA ligase, mitochondrial", "gene_name": "FARS2", "organism": "Human", "refseq_name": "phenylalanine--tRNA ligase, mitochondrial isoform 1", "refseq_ac": [ { "id": "NP_001305801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305801", "type": "external" } ], "gene_names_uniprotkb": "FARS2; FARS1; HSPC320", "gene_names_refseq": "COXPD14; FARS1; FARS2; HSPC320; PheRS; SPG77; mtPheRS", "protein_names_uniprotkb": "Phenylalanine--tRNA ligase, mitochondrial; 6.1.1.20; PheRS; Phenylalanyl-tRNA synthetase", "protein_names_refseq": "dJ236A3.1 (phenylalanine-tRNA synthetase); dJ520B18.2 (FARS1 (phenylalanine-tRNA synthetase)); mitochondrial PHERS; phenylalanine tRNA ligase 2, mitochondrial; phenylalanine translase; phenylalanine--tRNA ligase, mitochondrial isoform 1; phenylalanine-tRNA synthetase 1 (mitochondrial)", "tax_id": 9606, "disease": "hereditary spastic paraplegia 77 (Disease Ontology:DOID:0110822); combined oxidative phosphorylation deficiency 14 (Disease Ontology:DOID:0111477); developmental and epileptic encephalopathy (Disease Ontology:DOID:0112202)", "pathway": " (hsa:10667); (R-HSA-379726)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10329163;10684970;10764807;10828066;11237011;12690580;15274629;15779907;16300924;17384640;17768348;17847012;18611382;19549855;19608861;20934997;22499341;22833457;24715725;26154972;26553276;26992070;27600516;27920218;28228285;28832583;28855257;29242379;29493099;29557506;31154438;31844290;31937595;32157095;32357974;32387766;32938616;32983136;33141586;33298915;33912179;33936100;33968037;33972171;34087483;34185709;34211107;34357683;34405274;34509645;35580925;36155627;36215666;38362779;7755634;8078941;9278442;9466989", "class_list": "", "function": "FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System., [RefSeq, PubMed]; Formation of the PheRS-tRNAPhe complex in human mitochondria must be accompanied by considerable rearrangement of the anticodon binding domain upon tRNA binding., [RefSeq, PubMed]; Is responsible for the charging of tRNA(Phe) with phenylalanine in mitochondrial translation. To a lesser extent, also catalyzes direct attachment of m-Tyr (an oxidized version of Phe) to tRNA(Phe), thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins., [UniProtKB, PubMed, PubMed]; Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations., [RefSeq, PubMed]; The recombinant human enzyme has been purified to homogeneity and crystallized in complex with phenylalanine and ATP., [RefSeq, PubMed]; This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]; Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2. 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": 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": "B2R664;Q53F66;Q5TCS3;Q6FG29;Q9NPY7;Q9P062", "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:0005524 ATP binding;GO:0000049 tRNA binding;GO:0004826 phenylalanine-tRNA ligase activity;GO:0004812 aminoacyl-tRNA ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0008033 tRNA processing;GO:0006418 tRNA aminoacylation for protein translation;GO:0006432 phenylalanyl-tRNA aminoacylation;GO:0006412 translation;GO:0043039 tRNA aminoacylation", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "O95363-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09429-1", "uniprot_id": [ { "id": "HMGB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P09429", "type": "external" } ], "mass": 24894.0, "length": 215, "protein_name": "High mobility group protein B1", "gene_name": "HMGB1", "organism": "Human", "refseq_name": "high mobility group protein B1 isoform 1", "refseq_ac": [ { "id": "NP_001300821", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001300821", "type": "external" } ], "gene_names_uniprotkb": "HMGB1; HMG1", "gene_names_refseq": "HMG-1; HMG1; HMG3; HMGB1; SBP-1", "protein_names_uniprotkb": "High mobility group protein B1; HMG-1; High mobility group protein 1", "protein_names_refseq": "Amphoterin; Sulfoglucuronyl carbohydrate binding protein; high mobility group protein B1 isoform 1; high mobility group protein B1; high-mobility group (nonhistone chromosomal) protein 1", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); hydrocephalus (Disease Ontology:DOID:10908); sciatic neuropathy (Disease Ontology:DOID:11446); Kawasaki disease (Disease Ontology:DOID:13378); obstructive jaundice (Disease Ontology:DOID:13603); alcohol use disorder (Disease Ontology:DOID:1574); atherosclerosis (Disease Ontology:DOID:1936); colon adenocarcinoma (Disease Ontology:DOID:234); high grade glioma (Disease Ontology:DOID:3070); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); brain infarction (Disease Ontology:DOID:3454); middle cerebral artery infarction (Disease Ontology:DOID:3525); cerebral infarction (Disease Ontology:DOID:3526); systemic scleroderma (Disease Ontology:DOID:418); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); periodontitis (Disease Ontology:DOID:824)", "pathway": " (hsa:3146); (R-HSA-1236974); (R-HSA-140342); (R-HSA-166058); (R-HSA-3000471); (R-HSA-445989); (R-HSA-5602498); (R-HSA-5603041); (R-HSA-5620971); (R-HSA-5686938); (R-HSA-6798695); (R-HSA-879415); (R-HSA-933542)", "pathway_count": 13, "publication_count": 306, "publication_id_list": "10.1101/2023.09.13.557529;10103054;10318789;10465784;10531386;10713148;10723127;10734051;10772654;10938017;11154118;11237011;11509636;11544529;11724772;11861652;11862315;11960013;11988484;12105195;12110890;12138091;12138165;12140561;12214235;12221085;12231511;12297423;12447441;12447442;12470955;12637671;12651854;12724322;12748178;12765338;12816978;12817025;12935895;12947091;14532127;14625308;14695889;14726519;15014079;15145317;15149602;15569692;15576377;15585605;15607795;15690042;15841214;15866482;15910001;15944249;15944945;16024789;16030018;16056267;16143102;16213021;16276419;16368683;16439361;16488891;1651976;16751103;16754682;16834340;16855214;16878026;16897187;16962095;17047224;17101731;17114460;17141195;17287340;17485511;17610420;17710648;17726518;17728323;17767165;17803946;17876058;17878161;17878374;17890055;17893200;17938174;18070880;18070982;18160415;18239742;18250463;18283539;18354232;18438411;18458151;18462684;18558917;18559343;18631454;18669648;18669862;18692471;18829464;18990700;19064698;19112167;19217269;19224918;19237602;19264983;19360789;19446504;19498957;19506249;19509286;19592493;19592497;19608861;19666475;19740737;19811284;19859801;20037584;20058876;20068230;20068231;20123072;20305658;20473308;20485341;20547845;20819940;20966070;21395369;21406692;21606490;21660935;21871094;22153078;22344226;22370717;22454496;22473704;22489132;22645359;22696656;22801494;22869893;23040637;23063560;23186163;23301498;23303669;23446148;23481700;23519706;23613522;23650620;23994764;24220159;24316379;24427810;24474694;24531895;24583716;24616531;24714562;24715725;24833748;24840642;24971542;25048472;25083866;25549101;25576301;25660311;25880347;26078984;26375003;26375851;26508369;26567221;26992070;27240253;27281216;27362237;27383986;27418190;27600516;27701768;27742543;27790215;27862975;27920218;28045099;28159928;28190768;28218747;28228285;28392147;28459430;28832583;28834231;28904123;29177860;2922262;29242379;29314611;29351928;29393594;29437277;29493099;29508533;29539421;29557506;29618516;29632711;29786170;29789417;29891674;29898893;29990470;30115681;30143555;30315122;30410026;30429286;30524438;30976076;31113851;31217245;31608988;31611695;31844290;32109412;32119511;32157095;32188940;32350084;32367036;32387766;32820063;32983136;33123756;33147444;33214551;33298915;33392160;33592498;33633747;33717175;33936100;33968037;34019948;34087483;34171305;34433824;34525359;34546745;34743181;34922257;34971702;35051231;35132862;35138101;35239449;35251023;35318648;35580925;36284347;36585612;37074911;37217939;37938771;38665916;39266214;39312196;39391311;40442314;40596516;40914422;7536797;7685021;7688729;8529130;8661151;8692836;8837778;9008162;9036861;9108473;9148942;9150946;9211901;9254056;9409200;9430229;9689078;9834113;9865693", "class_list": "glycogene", "function": "(Microbial infection) Associates with the influenza A viral protein NP in the nucleus of infected cells, promoting viral growth and enhancing the activity of the viral polymerase., [UniProtKB, PubMed]; (Microbial infection) Critical for entry of human coronaviruses SARS-CoV and SARS-CoV-2, as well as human coronavirus NL63/HCoV-NL63 (PubMed:33147444). Regulates the expression of the pro-viral genes ACE2 and CTSL through chromatin modulation (PubMed:33147444). Required for SARS-CoV-2 ORF3A-induced reticulophagy which induces endoplasmic reticulum stress and inflammatory responses and facilitates viral infection (PubMed:35239449)., [UniProtKB, PubMed, PubMed]; (Microbial infection) Facilitates dengue virus propagation via interaction with the untranslated regions of viral genome. In turn, this interaction with viral RNA may regulate secondary structure of dengue RNA thus facilitating its recognition by the replication complex., [UniProtKB, PubMed]; (Microbial infection) Promotes Epstein-Barr virus (EBV) latent-to-lytic switch by sustaining the expression of the viral transcription factor BZLF1 that acts as a molecular switch to induce the transition from the latent to the lytic or productive phase of the virus cycle. Mechanistically, participates in EBV reactivation through the NLRP3 inflammasome., [UniProtKB, PubMed]; Elevated levels of damage-associated molecular patterns HMGB1 and S100A8/A9 coupled with toll-like receptor-triggered monocyte activation are associated with inflammation in patients with myelofibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; IFN-gamma induces acute graft-versus-host disease by promoting HMGB1-mediated nuclear-to-cytoplasm translocation and autophagic degradation of p53., [RefSeq, PubMed]; In the cytoplasm proposed to dissociate the BECN1:BCL2 complex via competitive interaction with BECN1 leading to autophagy activation (PubMed:20819940). Involved in oxidative stress-mediated autophagy (PubMed:21395369). Can protect BECN1 and ATG5 from calpain-mediated cleavage and thus proposed to control their proautophagic and proapoptotic functions and to regulate the extent and severity of inflammation-associated cellular injury (By similarity). In myeloid cells has a protective role against endotoxemia and bacterial infection by promoting autophagy (By similarity). Involved in endosomal translocation and activation of TLR9 in response to CpG-DNA in macrophages (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; In the extracellular compartment (following either active secretion or passive release) involved in regulation of the inflammatory response. Fully reduced HGMB1 (which subsequently gets oxidized after release) in association with CXCL12 mediates the recruitment of inflammatory cells during the initial phase of tissue injury; the CXCL12:HMGB1 complex triggers CXCR4 homodimerization (PubMed:22370717). Induces the migration of monocyte-derived immature dendritic cells and seems to regulate adhesive and migratory functions of neutrophils implicating AGER/RAGE and ITGAM (By similarity). Can bind to various types of DNA and RNA including microbial unmethylated CpG-DNA to enhance the innate immune response to nucleic acids. Proposed to act in promiscuous DNA/RNA sensing which cooperates with subsequent discriminative sensing by specific pattern recognition receptors (By similarity). Promotes extracellular DNA-induced AIM2 inflammasome activation implicating AGER/RAGE (PubMed:24971542). Disulfide HMGB1 binds to transmembrane receptors, such as AGER/RAGE, TLR2, TLR4 and probably TREM1, thus activating their signal transduction pathways. Mediates the release of cytokines/chemokines such as TNF, IL-1, IL-6, IL-8, CCL2, CCL3, CCL4 and CXCL10 (PubMed:12765338, PubMed:18354232, PubMed:19264983, PubMed:20547845, PubMed:24474694). Promotes secretion of interferon-gamma by macrophage-stimulated natural killer (NK) cells in concert with other cytokines like IL-2 or IL-12 (PubMed:15607795). TLR4 is proposed to be the primary receptor promoting macrophage activation and signaling through TLR4 seems to implicate LY96/MD-2 (PubMed:20547845). In bacterial LPS- or LTA-mediated inflammatory responses binds to the endotoxins and transfers them to CD14 for signaling to the respective TLR4:LY96 and TLR2 complexes (PubMed:18354232, PubMed:21660935, PubMed:25660311). Contributes to tumor proliferation by association with ACER/RAGE (By similarity). Can bind to IL1-beta and signals through the IL1R1:IL1RAP receptor complex (PubMed:18250463). Binding to class A CpG activates cytokine production in plasmacytoid dendritic cells implicating TLR9, MYD88 and AGER/RAGE and can activate autoreactive B cells. Via HMGB1-containing chromatin immune complexes may also promote B cell responses to endogenous TLR9 ligands through a B-cell receptor (BCR)-dependent and ACER/RAGE-independent mechanism (By similarity). Inhibits phagocytosis of apoptotic cells by macrophages; the function is dependent on poly-ADP-ribosylation and involves binding to phosphatidylserine on the cell surface of apoptotic cells (By similarity). In adaptive immunity may be involved in enhancing immunity through activation of effector T cells and suppression of regulatory T (TReg) cells (PubMed:15944249, PubMed:22473704). In contrast, without implicating effector or regulatory T-cells, required for tumor infiltration and activation of T-cells expressing the lymphotoxin LTA:LTB heterotrimer thus promoting tumor malignant progression (By similarity). Also reported to limit proliferation of T-cells (By similarity). Released HMGB1:nucleosome complexes formed during apoptosis can signal through TLR2 to induce cytokine production (PubMed:19064698). Involved in induction of immunological tolerance by apoptotic cells; its pro-inflammatory activities when released by apoptotic cells are neutralized by reactive oxygen species (ROS)-dependent oxidation specifically on Cys-106 (PubMed:18631454). During macrophage activation by activated lymphocyte-derived self apoptotic DNA (ALD-DNA) promotes recruitment of ALD-DNA to endosomes (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Multifunctional redox sensitive protein with various roles in different cellular compartments. In the nucleus is one of the major chromatin-associated non-histone proteins and acts as a DNA chaperone involved in replication, transcription, chromatin remodeling, V(D)J recombination, DNA repair and genome stability (PubMed:33147444). Proposed to be an universal biosensor for nucleic acids. Promotes host inflammatory response to sterile and infectious signals and is involved in the coordination and integration of innate and adaptive immune responses. In the cytoplasm functions as a sensor and/or chaperone for immunogenic nucleic acids implicating the activation of TLR9-mediated immune responses, and mediates autophagy. Acts as a danger-associated molecular pattern (DAMP) molecule that amplifies immune responses during tissue injury (PubMed:27362237). Released to the extracellular environment can bind DNA, nucleosomes, IL-1 beta, CXCL12, AGER isoform 2/sRAGE, lipopolysaccharide (LPS) and lipoteichoic acid (LTA), and activates cells through engagement of multiple surface receptors (PubMed:34743181). In the extracellular compartment fully reduced HMGB1 (released by necrosis) acts as a chemokine, disulfide HMGB1 (actively secreted) as a cytokine, and sulfonyl HMGB1 (released from apoptotic cells) promotes immunological tolerance (PubMed:23446148, PubMed:23519706, PubMed:23994764, PubMed:25048472). Has proangiogdenic activity (By similarity). May be involved in platelet activation (By similarity). Binds to phosphatidylserine and phosphatidylethanolamide (By similarity). Bound to RAGE mediates signaling for neuronal outgrowth (By similarity). May play a role in accumulation of expanded polyglutamine (polyQ) proteins such as huntingtin (HTT) or TBP (PubMed:23303669, PubMed:25549101)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Nuclear functions are attributed to fully reduced HGMB1. Associates with chromatin and binds DNA with a preference to non-canonical DNA structures such as single-stranded DNA, DNA-containing cruciforms or bent structures, supercoiled DNA and ZDNA. Can bent DNA and enhance DNA flexibility by looping thus providing a mechanism to promote activities on various gene promoters by enhancing transcription factor binding and/or bringing distant regulatory sequences into close proximity (PubMed:20123072). May have an enhancing role in nucleotide excision repair (NER) (By similarity). However, effects in NER using in vitro systems have been reported conflictingly (PubMed:19360789, PubMed:19446504). May be involved in mismatch repair (MMR) and base excision repair (BER) pathways (PubMed:15014079, PubMed:16143102, PubMed:17803946). May be involved in double strand break repair such as non-homologous end joining (NHEJ) (By similarity). Involved in V(D)J recombination by acting as a cofactor of the RAG complex: acts by stimulating cleavage and RAG protein binding at the 23 bp spacer of conserved recombination signal sequences (RSS) (By similarity). In vitro can displace histone H1 from highly bent DNA (By similarity). Can restructure the canonical nucleosome leading to relaxation of structural constraints for transcription factor-binding (By similarity). Enhances binding of sterol regulatory element-binding proteins (SREBPs) such as SREBF1 to their cognate DNA sequences and increases their transcriptional activities (By similarity). Facilitates binding of TP53 to DNA (PubMed:23063560). Proposed to be involved in mitochondrial quality control and autophagy in a transcription-dependent fashion implicating HSPB1; however, this function has been questioned (By similarity). Can modulate the activity of the telomerase complex and may be involved in telomere maintenance (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; S100A9 and HMGB1 orchestrate MDSC-mediated immunosuppression in melanoma through TLR4 signaling. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that belongs to the High Mobility Group-box superfamily. The encoded non-histone, nuclear DNA-binding protein regulates transcription, and is involved in organization of DNA. This protein plays a role in several cellular processes, including inflammation, cell differentiation and tumor cell migration. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants that encode the same protein. [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": 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": 3, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 130, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 18, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A5D8W9;Q14321;Q5T7C3;Q6IBE1", "ec_number_list": [], "go_molecular_function": "GO:0010858 calcium-dependent protein kinase regulator activity;GO:0008301 DNA binding, bending;GO:0050786 RAGE receptor binding;GO:0003713 transcription coactivator activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005769 early endosome", "go_biological_process": "GO:0002270 plasmacytoid dendritic cell activation;GO:0002643 regulation of tolerance induction;GO:0002840 regulation of T cell mediated immune response to tumor cell;GO:0017055 negative regulation of RNA polymerase II transcription preinitiation complex assembly;GO:0032425 positive regulation of mismatch repair", "synthesized_glycan_count": 0, "hit_score": 31.6, "record_id": "P09429-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100110000001.010.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14526-1", "uniprot_id": [ { "id": "HIC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14526", "type": "external" } ], "mass": 76508.0, "length": 733, "protein_name": "Hypermethylated in cancer 1 protein", "gene_name": "HIC1", "organism": "Human", "refseq_name": "hypermethylated in cancer 1 protein isoform 2", "refseq_ac": [ { "id": "NP_001091672", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091672", "type": "external" } ], "gene_names_uniprotkb": "HIC1; ZBTB29", "gene_names_refseq": "HIC1; ZBTB29; ZNF901; hic-1", "protein_names_uniprotkb": "Hypermethylated in cancer 1 protein; Hic-1; Zinc finger and BTB domain-containing protein 29", "protein_names_refseq": "hypermethylated in cancer 1 protein isoform 2; hypermethylated in cancer 1; zinc finger and BTB domain-containing protein 29", "tax_id": 9606, "disease": "Miller-Dieker lissencephaly syndrome (Disease Ontology:DOID:0060469)", "pathway": " (hsa:3090); (R-HSA-3232118)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10611298;11073960;11237011;11554746;12052894;12072434;12356736;12419227;15231840;15247228;15373830;15494207;15507434;16269335;16690027;16724116;16762039;16781829;17213307;17283066;18347096;18374648;18617891;19486893;19525223;19744555;20016603;20154726;20209145;20547755;21098080;21375726;21900752;21965678;22022399;22544926;23417673;23481700;24275569;24390485;24782567;24835590;25114211;25218447;26073453;27846572;27935866;28832583;29493099;29786170;30315122;30410026;30429286;31092671;31154438;31217245;31844290;32357974;33298915;33592498;33912179;33981976;34299935;34642302;35051231;35081499;35276239;35580925;37838026;7585125", "class_list": "", "function": "A new major alternative promoter of HIC1 (HIC-1) is conserved in the murine locus and positively regulated by TP53., [RefSeq, PubMed]; DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk. Publication Status: Online-Only, [RefSeq, PubMed]; Dysregulated HIC1 and RassF1A expression in vitro alters the cell cytoskeleton and exosomal Piwi-interacting RNA., [RefSeq, PubMed]; FBXW11 contributes to stem-cell-like features and liver metastasis through regulating HIC1-mediated SIRT1 transcription in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; HIC-1 (HIC1) is a transcriptional repressor. However, in contrast to other BTB/POZ transcriptional repressors ( such as BCL6 or PLZF) it fails to recruit SMRT/NCoR-mSin3A/HDAC complexes via its BTB/POZ domain., [RefSeq, PubMed]; HIC1 interacts with FOXP3 multi protein complex: Novel pleiotropic mechanisms to regulate human regulatory T cell differentiation and function., [RefSeq, PubMed]; The promoter methylation drives down-regulation mode of HIC1 in gastric cancer, its molecular characteristics and downstream functional pathways., [RefSeq, PubMed]; This gene functions as a growth regulatory and tumor repressor gene. Hypermethylation or deletion of the region of this gene have been associated with tumors and the contiguous-gene syndrome, Miller-Dieker syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2010]., [RefSeq]; Transcriptional repressor (PubMed:12052894, PubMed:15231840). Recognizes and binds to the consensus sequence '5-[CG]NG[CG]GGGCA[CA]CC-3' (PubMed:15231840). May act as a tumor suppressor (PubMed:20154726). Involved in development of head, face, limbs and ventral body wall (By similarity). Involved in down-regulation of SIRT1 and thereby is involved in regulation of p53/TP53-dependent apoptotic DNA-damage responses (PubMed:16269335). The specific target gene promoter association seems to be depend on corepressors, such as CTBP1 or CTBP2 and MTA1 (PubMed:12052894, PubMed:20547755). In cooperation with MTA1 (indicative for an association with the NuRD complex) represses transcription from CCND1/cyclin-D1 and CDKN1C/p57Kip2 specifically in quiescent cells (PubMed:20547755). Involved in regulation of the Wnt signaling pathway probably by association with TCF7L2 and preventing TCF7L2 and CTNNB1 association with promoters of TCF-responsive genes (PubMed:16724116). Seems to repress transcription from E2F1 and ATOH1 which involves ARID1A, indicative for the participation of a distinct SWI/SNF-type chromatin-remodeling complex (PubMed:18347096, PubMed:19486893). Probably represses transcription of ACKR3, FGFBP1 and EFNA1 (PubMed:16690027, PubMed:19525223, PubMed:20154726)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "D3DTI4", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0042826 histone deacetylase binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q14526-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DC9-1", "uniprot_id": [ { "id": "OTUB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DC9", "type": "external" } ], "mass": 27213.0, "length": 234, "protein_name": "Ubiquitin thioesterase OTUB2", "gene_name": "OTUB2", "organism": "Human", "refseq_name": "ubiquitin thioesterase OTUB2", "refseq_ac": [ { "id": "NP_075601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075601", "type": "external" } ], "gene_names_uniprotkb": "OTUB2; C14orf137; OTB2; OTU2", "gene_names_refseq": "C14orf137; OTB2; OTU2; OTUB2", "protein_names_uniprotkb": "Ubiquitin thioesterase OTUB2; 3.4.19.12; Deubiquitinating enzyme OTUB2; OTU domain-containing ubiquitin aldehyde-binding protein 2; Otubain-2; Ubiquitin-specific-processing protease OTUB2", "protein_names_refseq": "OTU domain, ubiquitin aldehyde binding 2; OTU domain-containing ubiquitin aldehyde-binding protein 2; deubiquitinating enzyme OTUB2; otubain-2; ubiquitin thioesterase OTUB2; ubiquitin-specific protease otubain 2; ubiquitin-specific-processing protease OTUB2", "tax_id": 9606, "disease": "", "pathway": " (hsa:78990); (R-HSA-5689896)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10385526;11463333;12704427;14661020;15258597;15258613;15334086;18954305;19383985;19464428;19818707;19996094;20553488;22124327;23515685;23827681;24610782;25892735;25904330;26280536;28904123;29769354;30379171;30620550;31217245;31844290;32938616;38702967;39210373", "class_list": "", "function": "Data report the first crystal structure of an OTU superfamily protein, otubain 2, at 2.1 A resolution and propose a model for otubain-ubiquitin binding., [RefSeq, PubMed]; Exploring the regulatory role of FBXL19-AS1 in triple-negative breast cancer through the miR-378a-3p/OTUB2 axis., [RefSeq, PubMed]; Findings suggest that OTUB1 and OTUB2 negatively regulate virus-triggered type I IFN induction and cellular antiviral response by deubiquitinating TRAF3 and -6., [RefSeq, PubMed]; Hydrolase that can remove conjugated ubiquitin from proteins in vitro and may therefore play an important regulatory role at the level of protein turnover by preventing degradation. Mediates deubiquitination of 'Lys-11'-,'Lys-48'- and 'Lys-63'-linked polyubiquitin chains, with a preference for 'Lys-63'-linked polyubiquitin chains., [UniProtKB, PubMed, PubMed, PubMed]; OTU deubiquitinase, ubiquitin aldehyde binding 2 (OTUB2) modulates the stemness feature, chemoresistance, and epithelial-mesenchymal transition of colon cancer via regulating GINS complex subunit 1 (GINS1) expression. Publication Status: Online-Only, [RefSeq, PubMed]; OTUB2 is a novel promoter of viability and insulin secretion in human beta cells. OTUB2 acts through the inhibition of NF-kappaB signalling., [RefSeq, PubMed]; This gene encodes one of several deubiquitylating enzymes. Ubiquitin modification of proteins is needed for their stability and function; to reverse the process, deubiquityling enzymes remove ubiquitin. This protein contains an OTU domain and binds Ubal (ubiquitin aldehyde); an active cysteine protease site is present in the OTU domain. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q6IA10;Q9H6T1", "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": "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": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" } ], "go_molecular_function": "GO:0043130 ubiquitin binding;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0070536 protein K63-linked deubiquitination;GO:0071108 protein K48-linked deubiquitination;GO:0035871 protein K11-linked deubiquitination", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q96DC9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43378-1", "uniprot_id": [ { "id": "PTN9_HUMAN", "url": "https://www.uniprot.org/uniprot/P43378", "type": "external" } ], "mass": 68020.0, "length": 593, "protein_name": "Tyrosine-protein phosphatase non-receptor type 9", "gene_name": "PTPN9", "organism": "Human", "refseq_name": "tyrosine-protein phosphatase non-receptor type 9", "refseq_ac": [ { "id": "NP_002824", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002824", "type": "external" } ], "gene_names_uniprotkb": "PTPN9", "gene_names_refseq": "MEG2; PTPMEG2; PTPN9", "protein_names_uniprotkb": "Tyrosine-protein phosphatase non-receptor type 9; 3.1.3.48; PTPase MEG2; Protein-tyrosine phosphatase MEG2", "protein_names_refseq": "PTPase-MEG2; protein-tyrosine phosphatase MEG2; tyrosine-protein phosphatase non-receptor type 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:5780); (R-HSA-9008059)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "11145836;11237011;11839743;12096920;12112018;12381835;12809600;15527767;1557404;18390730;18669648;19167335;20068231;20935647;23481700;24481253;25576301;25645385;25729923;26375851;26992070;27060871;27600516;27846572;27920218;28063628;28092676;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29786170;30315122;31217245;31844290;31848261;31937595;32157095;32357974;32387766;32938616;32983136;33141586;33392160;33463918;33717175;33912179;34171305;34357683;34373992;34509645;35051231;35156900;36241641;36825546;38656553", "class_list": "", "function": "CircMMD_007 promotes oncogenic effects in the progression of lung adenocarcinoma through microRNA-197-3p/protein tyrosine phosphatase non-receptor type 9 axis., [RefSeq, PubMed]; Effect of L3MBTL3/PTPN9 polymorphisms on risk to alcohol-induced ONFH in Chinese Han population., [RefSeq, PubMed]; Protein-tyrosine phosphatase that could participate in the transfer of hydrophobic ligands or in functions of the Golgi apparatus., [UniProtKB, PubMed]; Purification and characterization of protein tyrosine phosphatase PTP-MEG2, [RefSeq, PubMed]; Signature of miR-21 and MEG-2 and their correlation with TGF-beta signaling in breast cancer., [RefSeq, PubMed]; The Critical Role of the miR-21-MEG2 Axis in Colorectal Cancer., [RefSeq, PubMed]; The binding of PKCepsilon and MEG2 to STAT3 regulates IL-6-mediated microglial hyperalgesia during inflammatory pain., [RefSeq, PubMed]; The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain that shares a significant similarity with yeast SEC14, which is a protein that has phosphatidylinositol transfer activity and is required for protein secretion through the Golgi complex in yeast. This PTP was found to be activated by polyphosphoinositide, and is thought to be involved in signaling events regulating phagocytosis. [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": 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": "Q53XR9", "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": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" } ], "go_molecular_function": "GO:0004726 non-membrane spanning protein tyrosine phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0044306 neuron projection terminus", "go_biological_process": "GO:0035335 peptidyl-tyrosine dephosphorylation;GO:0007165 signal transduction;GO:0010977 negative regulation of neuron projection development;GO:1903078 positive regulation of protein localization to plasma membrane;GO:0006470 protein dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "P43378-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46379-1", "uniprot_id": [ { "id": "BAG6_HUMAN", "url": "https://www.uniprot.org/uniprot/P46379", "type": "external" } ], "mass": 119409.0, "length": 1132, "protein_name": "Large proline-rich protein BAG6", "gene_name": "BAG6", "organism": "Human", "refseq_name": "large proline-rich protein BAG6 isoform 2", "refseq_ac": [ { "id": "NP_001092004", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092004", "type": "external" } ], "gene_names_uniprotkb": "BAG6; BAT3; G3", "gene_names_refseq": "BAG-6; BAG6; BAT3; D6S52E; G3", "protein_names_uniprotkb": "Large proline-rich protein BAG6; BAG family molecular chaperone regulator 6; BAG-6; BCL2-associated athanogene 6; HLA-B-associated transcript 3; Protein G3; Protein Scythe", "protein_names_refseq": "BAG family molecular chaperone regulator 6; BCL2 associated athanogene 6; HLA-B-associated transcript 3; large proline-rich protein BAG6 isoform 2; large proline-rich protein BAG6; large proline-rich protein BAT3; protein G3; protein Scythe; scythe", "tax_id": 9606, "disease": "lung non-small cell carcinoma (Disease Ontology:DOID:3908); osteoarthritis (Disease Ontology:DOID:8398); gastrointestinal stromal tumor (Disease Ontology:DOID:9253)", "pathway": " (hsa:7917); (R-HSA-9609523)", "pathway_count": 2, "publication_count": 183, "publication_id_list": "11237011;14656967;14960581;15302935;15708368;16777091;16964243;17081983;17382883;17403783;17697703;17924679;18055229;18088087;18452278;18477612;18669648;18707149;18765639;18852879;18991276;19413330;19651622;19664994;19664995;19690332;20058876;20068231;20230923;20375064;20516149;20547746;20676083;21406692;21444755;21466504;2156268;21636303;21743475;22424782;22706990;22869377;22898188;23041287;23129660;23142665;23186163;23246001;23481700;23533635;23783831;24160817;24275569;24366607;24392163;24424410;24714562;24715725;24981174;24995865;25179605;25415308;25418920;25505266;25535373;25576301;25645385;25713138;25892735;26154972;26337389;26375851;26565908;26675233;26692333;26728094;26758079;26811146;26992070;27113755;27193484;27226539;27397612;27458190;27543614;27600516;27726376;27846572;27920218;28063628;28104892;28218747;28228285;28446606;28467828;28514659;28832583;28834231;28904123;29042515;29242231;29242379;29314611;29331515;29393594;29493099;29508533;29557506;29632046;29769354;29786170;29789417;30192525;30315122;30410026;30429286;30459171;30484775;30524438;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34561969;34725712;34887561;34932366;35051231;35083852;35138101;35318648;35543156;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37217939;37815698;37938771;38665916;38942797;39302247;39534244;40914422", "class_list": "", "function": "ATP-independent molecular chaperone preventing the aggregation of misfolded and hydrophobic patches-containing proteins (PubMed:21636303). Functions as part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, which maintains these client proteins in a soluble state and participates in their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation (PubMed:20516149, PubMed:21636303, PubMed:21743475, PubMed:28104892). The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthesized tail-anchored proteins and together with SGTA and ASNA1 mediates their delivery to the endoplasmic reticulum (PubMed:20516149, PubMed:20676083, PubMed:25535373, PubMed:28104892). Client proteins that cannot be properly delivered to the endoplasmic reticulum are ubiquitinated by RNF126, an E3 ubiquitin-protein ligase associated with BAG6 and are sorted to the proteasome (PubMed:24981174, PubMed:27193484, PubMed:28104892). SGTA which prevents the recruitment of RNF126 to BAG6 may negatively regulate the ubiquitination and the proteasomal degradation of client proteins (PubMed:23129660, PubMed:25179605, PubMed:27193484). Similarly, the BAG6/BAT3 complex also functions as a sorting platform for proteins of the secretory pathway that are mislocalized to the cytosol either delivering them to the proteasome for degradation or to the endoplasmic reticulum (PubMed:21743475). The BAG6/BAT3 complex also plays a role in the endoplasmic reticulum-associated degradation (ERAD), a quality control mechanism that eliminates unwanted proteins of the endoplasmic reticulum through their retrotranslocation to the cytosol and their targeting to the proteasome. It maintains these retrotranslocated proteins in an unfolded yet soluble state condition in the cytosol to ensure their proper delivery to the proteasome (PubMed:21636303). BAG6 is also required for selective ubiquitin-mediated degradation of defective nascent chain polypeptides by the proteasome. In this context, it may participate in the production of antigenic peptides and play a role in antigen presentation in immune response (By similarity). BAG6 is also 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. BAG6 may ensure the proper degradation of these proteins and thereby protects the endoplasmic reticulum from protein overload upon stress (PubMed:26565908). By inhibiting the polyubiquitination and subsequent proteasomal degradation of HSPA2 it may also play a role in the assembly of the synaptonemal complex during spermatogenesis (By similarity). Also positively regulates apoptosis by interacting with and stabilizing the proapoptotic factor AIFM1 (By similarity). 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, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; BAG6 restricts pancreatic cancer progression by suppressing the release of IL33-presenting extracellular vesicles and the activation of mast cells., [RefSeq, PubMed]; DERL2 (derlin 2) stabilizes BAG6 (BAG cochaperone 6) in chemotherapy resistance of cholangiocarcinoma., [RefSeq, PubMed]; Involved in DNA damage-induced apoptosis: following DNA damage, accumulates in the nucleus and forms a complex with p300/EP300, enhancing p300/EP300-mediated p53/TP53 acetylation leading to increase p53/TP53 transcriptional activity (PubMed:17403783). When nuclear, may also act as a component of some chromatin regulator complex that regulates histone 3 'Lys-4' dimethylation (H3K4me2) (PubMed:18765639)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Mediates ricin-induced apoptosis., [UniProtKB, PubMed]; Mitochondrial antiviral-signalling protein is a client of the BAG6 protein quality control complex., [RefSeq, PubMed]; Released extracellularly via exosomes, it is a ligand of the natural killer/NK cells receptor NCR3 and stimulates NK cells cytotoxicity. It may thereby trigger NK cells cytotoxicity against neighboring tumor cells and immature myeloid dendritic cells (DC)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [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": 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": 10, "reported_glycation": 0, "reported_snv": 6, "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": "A2ADJ7;A3KQ42;A3KQ44;A6NGY6;A6PWF7;B0UX84;B4DZ12;B4E3V4;E7EMZ4;F8VXY4;O95874;Q5HYL9;Q5SQ35;Q5SQ36;Q5SQ37;Q5SQ41;Q5SRP8;Q5SRP9;Q5STC1;Q5STX1;Q5STX3;Q96SA6;Q9BCN4", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0005102 signaling receptor binding;GO:0031593 polyubiquitin modification-dependent protein binding;GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase 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:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0001822 kidney development;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 18.9, "record_id": "P46379-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57075-1", "uniprot_id": [ { "id": "UBS3A_HUMAN", "url": "https://www.uniprot.org/uniprot/P57075", "type": "external" } ], "mass": 74123.0, "length": 661, "protein_name": "Ubiquitin-associated and SH3 domain-containing protein A", "gene_name": "UBASH3A", "organism": "Human", "refseq_name": "ubiquitin-associated and SH3 domain-containing protein A isoform 2", "refseq_ac": [ { "id": "NP_001001895", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001895", "type": "external" } ], "gene_names_uniprotkb": "UBASH3A; STS2", "gene_names_refseq": "CLIP4; STS-2; TULA-1; TULA; UBASH3A", "protein_names_uniprotkb": "Ubiquitin-associated and SH3 domain-containing protein A; CLIP4; Cbl-interacting protein 4; STS-2; Suppressor of T-cell receptor signaling 2; T-cell ubiquitin ligand 1; TULA-1", "protein_names_refseq": "T-cell ubiquitin ligand 1; T-cell ubiquitin ligand protein; cbl-interacting protein 4; suppressor of T-cell receptor signaling 2; ubiquitin-associated and SH3 domain-containing protein A isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:53347)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;11281453;15107835;15159412;17382318;18189269;20166139;28218747;28832583;29242379;29437277;29493099;30379171;32387766;32983136;34502088;35051231;35580925;36651163;37217939;38461240", "class_list": "", "function": "CRKL, AIFM3, AIF, BCL2, and UBASH3A during Human Kidney Development. Publication Status: Online-Only, [RefSeq, PubMed]; FLI1 induces erythroleukemia through opposing effects on UBASH3A and UBASH3B expression. Publication Status: Online-Only, [RefSeq, PubMed]; Interferes with CBL-mediated down-regulation and degradation of receptor-type tyrosine kinases. Promotes accumulation of activated target receptors, such as T-cell receptors, EGFR and PDGFRB, on the cell surface. Exhibits negligible protein tyrosine phosphatase activity at neutral pH. May act as a dominant-negative regulator of UBASH3B-dependent dephosphorylation. May inhibit dynamin-dependent endocytic pathways by functionally sequestering dynamin via its SH3 domain., [UniProtKB, PubMed, PubMed, PubMed]; Replication of association at the LPP and UBASH3A loci in a UK autoimmune Addison's disease cohort., [RefSeq, PubMed]; Sts-1 and Sts-2 bind to Cbl and inhibit endocytosis of receptor tyrosine kinases, [RefSeq, PubMed]; TULA inhibits both clathrin-dependent and clathrin-independent endocytic pathways by functionally sequestering dynamin via the SH3 domain of TULA binding proline-rich sequences in dynamin, [RefSeq, PubMed]; This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. 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": 1, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "G5E9E4;Q6HA34;Q6HA35;Q6ISI6;Q6ISK3;Q6ISS9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck;GO:0070062 extracellular exosome", "go_biological_process": "GO:0050860 negative regulation of T cell receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "P57075-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDY4-1", "uniprot_id": [ { "id": "ASAP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDY4", "type": "external" } ], "mass": 99155.0, "length": 903, "protein_name": "Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3", "gene_name": "ASAP3", "organism": "Human", "refseq_name": "arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform b", "refseq_ac": [ { "id": "NP_001137250", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137250", "type": "external" } ], "gene_names_uniprotkb": "ASAP3; DDEFL1; UPLC1", "gene_names_refseq": "ACAP4; ASAP3; CENTB6; DDEFL1; UPLC1", "protein_names_uniprotkb": "Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3; Development and differentiation-enhancing factor-like 1; Protein up-regulated in liver cancer 1", "protein_names_refseq": "ARF6 GTPase-activating protein; ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 1; arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 isoform b; arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3; centaurin, beta 6; development and differentiation enhancing factor-like 1; protein up-regulated in liver cancer 1; up-regulated in liver cancer 1 (UPLC1)", "tax_id": 9606, "disease": "colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:55616)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;14654939;16737952;16959974;18400762;20510928;22027826;22544926;23776207;25645385;26992070;27893789;28808054;28832583;28904123;29331515;29557506;29786170;30429286;30484775;30536996;31182282;31217245;31844290;32157095;32488085;32938616;33592498;33968037;34171305;35051231;35251023;35580925;36010968;36241641", "class_list": "", "function": "ACAP4 is involved in ARF6-mediated cell migration. Erratum:[Mol Cell Proteomics. 2006 Sep;5(9):1718], [RefSeq, PubMed]; ACAP4 physically interacts with CrkII. Functional characterization showed that the interaction is required for the recruitment of ACAP4 to the plasma membrane where ACAP4 functions to regulate the recycling of the signal transducer integrin beta1., [RefSeq, PubMed]; ASAP3 functions nonredundantly with ASAP1 to control cell movement and may have a role in cancer cell invasion., [RefSeq, PubMed]; MiR-143-3p acts as an anti-oncogene by downregulating ITGA6/ASAP3 protein expression and could offer new insight into potential therapeutic targets for CRC., [RefSeq, PubMed]; Promotes cell proliferation., [UniProtKB, PubMed]; The ArfGAP catalytic mechanism and shows a glutamine from Arf6 and an arginine fingerASAP3 as the important catalytic residues; unexpectedly the structure shows a calcium ion, liganded by both proteins in the complex interface. Erratum:[Cell. 2010 Dec 23;143(7):1190], [RefSeq, PubMed]; This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B3KRW0;B4DHH4;Q6P9F4;Q86UY1;Q9NXK2", "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:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0001726 ruffle", "go_biological_process": "GO:0016477 cell migration;GO:0043547 positive regulation of GTPase activity;GO:0051492 regulation of stress fiber assembly", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q8TDY4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H1I8-1", "uniprot_id": [ { "id": "ASCC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H1I8", "type": "external" } ], "mass": 86360.0, "length": 757, "protein_name": "Activating signal cointegrator 1 complex subunit 2", "gene_name": "ASCC2", "organism": "Human", "refseq_name": "activating signal cointegrator 1 complex subunit 2 isoform 2", "refseq_ac": [ { "id": "NP_001229835", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229835", "type": "external" } ], "gene_names_uniprotkb": "ASCC2; ASC1P100; RQT3", "gene_names_refseq": "ASC1p100; ASCC2; p100", "protein_names_uniprotkb": "Activating signal cointegrator 1 complex subunit 2; ASC-1 complex subunit p100; Trip4 complex subunit p100", "protein_names_refseq": "ASC-1 complex subunit P100; activating signal cointegrator 1 complex subunit 2 isoform 2; trip4 complex subunit p100", "tax_id": 9606, "disease": "", "pathway": " (hsa:84164); (R-HSA-112126); (R-HSA-9954716)", "pathway_count": 3, "publication_count": 73, "publication_id_list": "11237011;12077347;12226667;12486230;12594517;16858410;17924679;18477386;20068231;20714506;22055184;23186163;23301498;23481700;24275569;24714562;25418920;25576301;25645385;25880248;26154972;26375851;26728094;26924529;26992070;27397612;27600516;27846572;27920218;28065601;28132843;28218747;28228285;28685749;28832583;28834231;28904123;29144457;29242379;29393594;29437277;29493099;29557506;29997253;30293783;30315122;30429286;31217245;31799605;31844290;32099016;32157095;32265295;32357974;32387766;32488085;32579943;32938616;32983136;33139697;33141586;33686958;33912179;33968037;33981976;34433824;34561969;35051231;35154160;35580925;36241641;36302773;40914422", "class_list": "", "function": "Identification of key genes in coronary artery disease: an integrative approach based on weighted gene co-expression network analysis and their correlation with immune infiltration., [RefSeq, PubMed]; The interaction of DNA repair factors ASCC2 and ASCC3 is affected by somatic cancer mutations. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitin-binding protein involved in DNA repair and rescue of stalled ribosomes (PubMed:29144457, PubMed:32099016, PubMed:32579943, PubMed:36302773). Plays a role in DNA damage repair as component of the ASCC complex (PubMed:29144457). Recruits ASCC3 and ALKBH3 to sites of DNA damage by binding to polyubiquitinated proteins that have 'Lys-63'-linked polyubiquitin chains (PubMed:29144457). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347). Involved in activation of the ribosome quality control (RQC) pathway, a pathway that degrades nascent peptide chains during problematic translation (PubMed:32099016, PubMed:32579943, PubMed:36302773). Specifically recognizes and binds RPS20/uS10 ubiquitinated by ZNF598, promoting recruitment of the RQT (ribosome quality control trigger) complex on stalled ribosomes, followed by disassembly of stalled ribosomes (PubMed:36302773)., [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": 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": "B7Z8E0;F5H6J9;Q4TT54;Q8TAZ0;Q9H711;Q9H9D6", "ec_number_list": [], "go_molecular_function": "GO:0043130 ubiquitin binding;GO:0070530 K63-linked polyubiquitin modification-dependent protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck;GO:0022626 cytosolic ribosome", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0032790 ribosome disassembly;GO:0006351 DNA-templated transcription;GO:0006307 DNA alkylation repair;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q9H1I8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L311-1", "uniprot_id": [ { "id": "ARMX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L311", "type": "external" } ], "mass": 65683.0, "length": 632, "protein_name": "Armadillo repeat-containing X-linked protein 2", "gene_name": "ARMCX2", "organism": "Human", "refseq_name": "armadillo repeat-containing X-linked protein 2", "refseq_ac": [ { "id": "NP_001269160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269160", "type": "external" } ], "gene_names_uniprotkb": "ARMCX2; ALEX2; KIAA0512", "gene_names_refseq": "ALEX2; ARMCX2; GASP9", "protein_names_uniprotkb": "Armadillo repeat-containing X-linked protein 2; ARM protein lost in epithelial cancers on chromosome X 2; Protein ALEX2", "protein_names_refseq": "ARM protein lost in epithelial cancers on chromosome X 2; armadillo repeat protein ALEX2; armadillo repeat-containing X-linked protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9823)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11162520;11237011;22249249;23481700;24714562;25576301;25645385;26728094;27862975;28832583;29242379;29508533;29557506;29632046;29632711;29786170;30429286;31154438;31222486;31844290;31848261;32157095;32161166;32488085;32502341;32685472;32983136;33592498;33968037;35051231;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "ARMCX Family Gene Expression Analysis and Potential Prognostic Biomarkers for Prediction of Clinical Outcome in Patients with Gastric Carcinoma. Erratum:[Biomed Res Int. 2021 Feb 9;2021:3179693. doi: 10.1155/2021/3179693. PMID: 33644226] Publication Status: Online-Only, [RefSeq, PubMed]; Data indicate that ARMCX2, COL1A1, MDK, MEST and MLH1 genes acquired methylation in drug-resistant ovarian cancer-sustaining (side population) cells., [RefSeq, PubMed]; May regulate the dynamics and distribution of mitochondria in neural cells., [UniProtKB, UniProtKB]; This gene encodes a protein containing a potential N-terminal transmembrane domain and multiple armadillo (arm) repeats. Proteins containing arm repeats are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is located in a cluster of related genes on chromosome X. There is a pseudogene for this gene on chromosome 7. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 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": 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": "O60267;Q5H9D9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:1904115 axon cytoplasm", "go_biological_process": "GO:0019896 axonal transport of mitochondrion", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q7L311-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35670-1", "uniprot_id": [ { "id": "ATP7B_HUMAN", "url": "https://www.uniprot.org/uniprot/P35670", "type": "external" } ], "mass": 157263.0, "length": 1465, "protein_name": "Copper-transporting ATPase 2", "gene_name": "ATP7B", "organism": "Human", "refseq_name": "copper-transporting ATPase 2 isoform b", "refseq_ac": [ { "id": "NP_001005918", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005918", "type": "external" } ], "gene_names_uniprotkb": "ATP7B; PWD; WC1; WND", "gene_names_refseq": "ATP7B; PWD; WC1; WD; WND", "protein_names_uniprotkb": "Copper-transporting ATPase 2; 7.2.2.8; Copper pump 2; Wilson disease-associated protein", "protein_names_refseq": "ATPase, Cu(2+)- transporting, beta polypeptide; ATPase, Cu++ transporting, beta polypeptide; Wilson disease-associated protein; copper pump 2; copper-transporting ATPase 2 isoform b; copper-transporting ATPase 2; copper-transporting protein ATP7B", "tax_id": 9606, "disease": "occipital horn syndrome (Disease Ontology:DOID:0111272); spinal muscular atrophy (Disease Ontology:DOID:12377); Menkes disease (Disease Ontology:DOID:1838); renal adenoma (Disease Ontology:DOID:2697); breast carcinoma (Disease Ontology:DOID:3459); liver carcinoma (Disease Ontology:DOID:686); Wilson disease (Disease Ontology:DOID:893); metal metabolism disorder (Disease Ontology:DOID:896)", "pathway": " (hsa:540); (R-HSA-936837)", "pathway_count": 2, "publication_count": 157, "publication_id_list": "10051024;10194254;10334941;10401004;10447265;10453196;10484781;10502776;10502777;10544227;10615129;10721669;10767338;10790207;10942420;11043508;11093740;11180609;11216666;11231950;11237011;11243728;11405812;11690702;11954751;12325021;12376745;12544487;12551905;12968035;14639035;14966923;14986826;15024742;15557537;15681833;15811015;15831496;15845031;15919184;15925480;15952988;15967699;16088907;16182249;16207219;16283883;16554302;1656976;16649058;16676348;16700898;17718866;17823867;17919502;17949296;18203200;18373411;18558714;18723824;19033537;19345671;19520855;19878721;20032459;20333758;21189263;21398519;21406592;21454443;2160952;21645214;21682854;22075048;22186024;22240481;22484412;22763723;23159873;23186163;23196729;23235335;23275100;23333878;23518715;23962630;24303094;24392018;24476933;24555712;24706876;24715725;25704634;25982861;26004889;27067231;27862975;28107647;28856630;28904123;29351928;29557506;30379171;30524438;31217245;31611695;31844290;32157095;32284880;32350084;32387766;32897882;32938616;32983136;33298915;33392160;33912179;33968037;34087483;34171305;34357683;35051231;35251023;35580925;36010968;36284347;37737146;38032054;38286269;38307383;6832622;7626145;7833924;8045293;8250934;8298639;8298641;8490646;8490659;8533760;8782057;8931691;8938442;8980283;9147644;9222767;9307043;9311736;9452121;9482578;9554743;9600907;9671269;9772425;9829905;9837819;9887381", "class_list": "", "function": "AP-1gamma2 is an adaptor protein 1 variant required for endosome-to-Golgi trafficking of the mannose-6-P receptor (CI-MPR) and ATP7B copper transporter., [RefSeq, PubMed]; ATP7B Gene Variant Profile Identified by NGS in Wilson's Disease., [RefSeq, PubMed]; Copper ion transmembrane transporter involved in the export of copper out of the cells. It is involved in copper homeostasis in the liver, where it ensures the efflux of copper from hepatocytes into the bile in response to copper overload., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Integrative analysis of the cuproptosis-related gene ATP7B in the prognosis and immune infiltration of IDH1 wild-type glioma., [RefSeq, PubMed]; Regulation of the apico-basolateral trafficking polarity of the homologous copper-ATPases ATP7A and ATP7B., [RefSeq, PubMed]; This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [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": 9, "reported_mutagensis": 21, "reported_glycation": 0, "reported_snv": 37, "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": "Q16318;Q16319;Q4U3V3;Q59FJ9;Q5T7X7", "ec_number_list": [ { "id": "7.2.2.8", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.8", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0005507 copper ion binding;GO:0005375 copper ion transmembrane transporter activity;GO:0043682 P-type divalent copper transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005739 mitochondrion;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006878 intracellular copper ion homeostasis;GO:0034220 monoatomic ion transmembrane transport;GO:0046688 response to copper ion;GO:0006825 copper ion transport;GO:0015677 copper ion import", "synthesized_glycan_count": 0, "hit_score": 16.0, "record_id": "P35670-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR81-1", "uniprot_id": [ { "id": "ARHG3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR81", "type": "external" } ], "mass": 59783.0, "length": 526, "protein_name": "Rho guanine nucleotide exchange factor 3", "gene_name": "ARHGEF3", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 3 isoform 1", "refseq_ac": [ { "id": "NP_001122087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122087", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF3", "gene_names_refseq": "ARHGEF3; GEF3; STA3; XPLN", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 3; Exchange factor found in platelets and leukemic and neuronal tissues; XPLN", "protein_names_refseq": "59.8 kDA protein; Rho guanine nucleotide exchange factor (GEF) 3; RhoGEF protein; exchange factor found in platelets and leukemic and neuronal tissues, XPLN; rho guanine nucleotide exchange factor 3 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:50650); (R-HSA-193648); (R-HSA-416482); (R-HSA-8980692); (R-HSA-9013026)", "pathway_count": 5, "publication_count": 256, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;10873612;11058585;11085924;11207612;11230166;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;15023524;15064355;15107133;15302923;15342493;15470142;15485661;15601624;15611138;15699075;15749160;15850391;15866170;15944396;15951850;16112081;16116428;16184169;16212495;16217026;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16923326;17077126;17198702;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18160138;18218625;18374420;18577758;18802007;18829452;19212140;19494238;19605563;19635168;19673492;19713215;20030946;20101212;20400958;20591975;20628200;20660154;21148482;21351730;21373644;21454492;21565175;21699497;21865595;21936715;22096251;22298643;22305756;22661716;22673745;22911862;22992742;23186163;23200924;23255595;23434736;23481700;23572525;23870313;24086303;24128008;24259668;24335996;24352656;24714562;24715725;24933155;25211221;25414122;25576301;25645385;25673874;25704760;26154972;26371245;26529257;26811146;26887924;26992070;27072905;27145964;27216196;27481945;27846572;27920218;27986909;28063628;28112683;28196833;28228285;28584191;28832583;28834231;28855257;28904123;29146911;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30007591;30315122;30429286;30484775;30779550;30784271;31105010;31154438;31844290;31848261;31871319;31998317;32139661;32157095;32161166;32203420;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33936100;33968037;33981976;34171305;34211107;34267198;34350290;34357683;34509645;34561969;34932366;35051231;35580925;36215666;36241641;36241648;36284347;37217939;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", "class_list": "", "function": "A guanine nucleotide exchange factor for RhoA and RhoB, but not RhoC, [RefSeq, PubMed]; ARHGEF3 Associated with Invasion, Metastasis, and Proliferation in Human Osteosarcoma. Publication Status: Online-Only, [RefSeq, PubMed]; ARHGEF3 regulates the stability of ACLY to promote the proliferation of lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Acts as a guanine nucleotide exchange factor (GEF) for RhoA and RhoB GTPases., [UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB]; Genetic variants in RET, ARHGEF3 and CTNNAL1, and relevant interaction networks, contribute to the risk of Hirschsprung disease., [RefSeq, PubMed]; Redefining the specificity of phosphoinositide-binding by human PH domain-containing proteins. Publication Status: Online-Only, [RefSeq, PubMed]; Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced 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": 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": "A8K5U7;Q4FZB6;Q4QQI5;Q4QQQ0;Q59F00;Q6NUN3;Q7Z4U2;Q7Z5T2;Q9H7T4", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0007266 Rho protein signal transduction;GO:0035025 positive regulation of Rho protein signal transduction;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 25.9, "record_id": "Q9NR81-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBU8-1", "uniprot_id": [ { "id": "MO4L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBU8", "type": "external" } ], "mass": 41474.0, "length": 362, "protein_name": "Mortality factor 4-like protein 1", "gene_name": "MORF4L1", "organism": "Human", "refseq_name": "mortality factor 4-like protein 1 isoform 3", "refseq_ac": [ { "id": "NP_001252532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252532", "type": "external" } ], "gene_names_uniprotkb": "MORF4L1; FWP006; HSPC008; HSPC061; MRG15; PP368", "gene_names_refseq": "Eaf3; FWP006; HsT17725; MEAF3; MORF4L1; MORFRG15; MRG15; S863-6", "protein_names_uniprotkb": "Mortality factor 4-like protein 1; MORF-related gene 15 protein; MRG15; Protein MSL3-1; Transcription factor-like protein MRG15", "protein_names_refseq": "Esa1p-associated factor 3 homolog; MORF-related gene 15 protein; MORF-related gene on chromosome 15; mortality factor 4-like protein 1 isoform 3; mortality factor 4-like protein 1; protein MSL3-1; transcription factor-like protein MRG15", "tax_id": 9606, "disease": "", "pathway": " (hsa:10933); (R-HSA-3214847)", "pathway_count": 2, "publication_count": 113, "publication_id_list": "10786633;10821277;11237011;11500496;12391155;12397079;12963728;1448153;14966270;15196461;15313887;15498874;16387653;16407074;17008723;18381289;18623064;19187765;19608861;19650074;20018852;20332121;21041482;22424782;23481700;24366607;24714562;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26758079;26768311;26811146;26992070;27397612;27846572;27862975;27869121;27920218;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30484775;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33936100;33968037;34087483;34171305;34185709;34211107;34357683;34433824;34509645;34561969;34932366;35051231;35318648;35561310;35580925;35985547;36010968;36215666;36241641;36284347;36581221;37137925;37217939;37527654;37938771;9427644;9558366;9880483;9886403;9891081", "class_list": "", "function": "A novel chromodomain protein that is present in two distinct multiprotein complexes involved in transcriptional activation, [RefSeq, PubMed]; Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. NuA4 may also play a direct role in DNA repair when directly recruited to sites of DNA damage. As part of the SIN3B complex represses transcription and counteracts the histone acetyltransferase activity of EP300 through the recognition H3K27ac marks by PHF12 and the activity of the histone deacetylase HDAC2 (PubMed:12391155, PubMed:14966270, PubMed:37137925). SIN3B complex is recruited downstream of the constitutively active genes transcriptional start sites through interaction with histones and mitigates histone acetylation and RNA polymerase II progression within transcribed regions contributing to the regulation of transcription (PubMed:21041482). Required for homologous recombination repair (HRR) and resistance to mitomycin C (MMC). Involved in the localization of PALB2, BRCA2 and RAD51, but not BRCA1, to DNA-damage foci., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; MRG15 activates histone methyltransferase activity of ASH1L by recruiting it to the nucleosomes., [RefSeq, PubMed]; MRG15 aggravates non-alcoholic steatohepatitis progression by regulating the mitochondrial proteolytic degradation of TUFM., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "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": "B4DKN6;B7Z6R1;D3DW88;O95899;Q5QTS1;Q6NVX8;Q86YT7;Q9HBP6;Q9NSW5", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0035267 NuA4 histone acetyltransferase complex;GO:0070822 Sin3-type complex;GO:0000786 nucleosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0006325 chromatin organization;GO:0042981 regulation of apoptotic process;GO:0000724 double-strand break repair via homologous recombination", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q9UBU8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H981-1", "uniprot_id": [ { "id": "ARP8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H981", "type": "external" } ], "mass": 70484.0, "length": 624, "protein_name": "Actin-related protein 8", "gene_name": "ACTR8", "organism": "Human", "refseq_name": "actin-related protein 8 isoform 1", "refseq_ac": [ { "id": "NP_075050", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075050", "type": "external" } ], "gene_names_uniprotkb": "ACTR8; ARP8; INO80N", "gene_names_refseq": "ACTR8; ARP8; INO80N; hArp8", "protein_names_uniprotkb": "Actin-related protein 8; INO80 complex subunit N; hArp8", "protein_names_refseq": "ARP8 actin related protein 8 homolog; INO80 complex subunit N; actin-related protein 8 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:93973); (R-HSA-5689603); (R-HSA-5696394)", "pathway_count": 3, "publication_count": 94, "publication_id_list": "10.1101/2023.09.13.557529;10391953;11237011;11279143;12732143;12815074;12944386;14742321;15811629;15882621;15964821;16223728;16230350;16473935;16678110;16906146;17081983;17139257;17882165;17924679;18163988;18497827;18669648;18922472;19109893;19188440;19609301;19691289;19815555;20068231;20436459;20805357;20855601;21135142;21303910;21388382;22118460;22977180;23045548;23186163;23319653;24715725;2530630;25576301;26992070;27600516;27920218;28228285;28446606;28514659;28832583;28834231;28904123;29242379;29393594;29557506;29632711;29759113;29769354;30315122;30429286;30833945;31092671;31217245;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33968037;34171305;34185709;34509645;34932366;35051231;35251023;35580925;36010968;36284347;40914422;8168482;9528852;9790970", "class_list": "", "function": "Expression of truncated hArp8 proteins and depletion of endogenous hArp8 by RNA interference caused misalignment of mitotic chromosomes, suggesting that chromosome-associated hArp8 has a role in chromosome behavior., [RefSeq, PubMed]; Plays an important role in the functional organization of mitotic chromosomes. Exhibits low basal ATPase activity, and unable to polymerize., [UniProtKB]; Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. Required for the recruitment of INO80 (and probably the INO80 complex) to sites of DNA damage. Strongly prefer nucleosomes and H3-H4 tetramers over H2A-H2B dimers, suggesting it may act as a nucleosome recognition module within the complex., [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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "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": "B3KSW7;Q8N566;Q9H663", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031011 Ino80 complex", "go_biological_process": "GO:0060382 regulation of DNA strand elongation;GO:0033044 regulation of chromosome organization;GO:0006310 DNA recombination;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q9H981-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94817-1", "uniprot_id": [ { "id": "ATG12_HUMAN", "url": "https://www.uniprot.org/uniprot/O94817", "type": "external" } ], "mass": 15113.0, "length": 140, "protein_name": "Ubiquitin-like protein ATG12", "gene_name": "ATG12", "organism": "Human", "refseq_name": "ubiquitin-like protein ATG12 isoform 2", "refseq_ac": [ { "id": "NP_001264712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264712", "type": "external" } ], "gene_names_uniprotkb": "ATG12; APG12L; APG12", "gene_names_refseq": "APG12L; APG12; ATG12; FBR93; HAPG12", "protein_names_uniprotkb": "Ubiquitin-like protein ATG12; APG12-like; Autophagy-related protein 12", "protein_names_refseq": "APG12 autophagy 12-like; ATG12 autophagy related 12 homolog; Apg12 (autophagy, yeast) homolog; ubiquitin-like protein ATG12 isoform 2; ubiquitin-like protein ATG12", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547)", "pathway": " (hsa:9140); (R-HSA-1632852); (R-HSA-5205685); (R-HSA-8934903); (R-HSA-936440)", "pathway_count": 5, "publication_count": 99, "publication_id_list": "11096062;11237011;11825910;12207896;15187094;16699525;16715065;16963840;17457038;17618624;17709747;17991829;17999726;18057259;18200010;18321988;18439900;18704115;19074260;19124466;19125153;19164948;19211835;19322194;19432818;19473119;19590496;19666601;19855179;19881509;19893624;19898463;20059746;20126261;20304918;20434986;20712405;20713597;20921139;21115803;21177865;21194381;21205641;21258367;21383122;21460621;21617041;21819378;22170151;22267086;22342342;22682742;23202584;23685627;23727157;23884233;24191030;24660806;24671035;24746696;24747438;24751536;24784582;24954904;25474007;25484072;25527497;25568151;26116755;26365381;27035970;27247382;28904123;29394115;29508533;29557506;29995846;30410026;30779550;31154438;31844290;31848261;31998317;32296703;32357974;32387766;32488085;32502341;32960676;32983136;34870550;34904929;35580925;37866664;38253038;38287189;40596516;7628435;9852036", "class_list": "", "function": "(Microbial infection) May act as a proviral factor. In association with ATG5, 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 the initiation of HCV replication, but not required once infection is established (PubMed:19666601)., [UniProtKB, PubMed, PubMed]; ATG12 deficiency results in intracellular glutamine depletion, abrogation of tumor hypoxia and a favorable prognosis in cancer., [RefSeq, PubMed]; Adaptor SH3BGRL drives autophagy-mediated chemoresistance through promoting PIK3C3 translation and ATG12 stability in breast cancers., [RefSeq, PubMed]; Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM, Mar 2008]., [RefSeq]; Circ_SIRT1 upregulates ATG12 to facilitate Imatinib resistance in CML through interacting with EIF4A3., [RefSeq, PubMed]; 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]; Ubiquitin-like protein involved in autophagy vesicles formation. Conjugation with ATG5 through a ubiquitin-like conjugating system involving also 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. As part of the ATG8 conjugation system with ATG5 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, 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": 14, "reported_glycation": 0, "reported_snv": 5, "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": "Q6PJV2", "ec_number_list": [], "go_molecular_function": "GO:0031386 protein tag activity", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005829 cytosol;GO:0030670 phagocytic vesicle membrane;GO:0005776 autophagosome;GO:0034045 phagophore assembly site membrane", "go_biological_process": "GO:0097352 autophagosome maturation;GO:1904973 positive regulation of viral translation;GO:0000045 autophagosome assembly;GO:0016236 macroautophagy;GO:0000422 autophagy of mitochondrion", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "O94817-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXU5-1", "uniprot_id": [ { "id": "ARL15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXU5", "type": "external" } ], "mass": 22876.0, "length": 204, "protein_name": "ADP-ribosylation factor-like protein 15", "gene_name": "ARL15", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 15", "refseq_ac": [ { "id": "NP_061960", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061960", "type": "external" } ], "gene_names_uniprotkb": "ARL15; ARFRP2", "gene_names_refseq": "ARFRP2; ARL15", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 15; ADP-ribosylation factor-related protein 2; ARF-related protein 2", "protein_names_refseq": "ADP ribosylation factor like GTPase 15; ADP-ribosylation factor-like 15; ADP-ribosylation factor-like protein 15; ADP-ribosylation factor-related protein 2; ARF-related protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54622)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;20011104;20950786;28228285;30833945;31844290;32350084;32897882;33968037;34089346;34187973;35494241;36010968;36302536;37718516", "class_list": "", "function": "ARL15 and its Multiple Disease Association: Emerging Functions and Potential Therapeutic Application., [RefSeq, PubMed]; Adenosine diphosphate-ribosylation factor-like 15 can regulate glycolysis and lipogenesis related genes in colon cancer., [RefSeq, PubMed]; Correlation between an intronic SNP genotype and ARL15 level in rheumatoid arthritis., [RefSeq, PubMed]; Findings identify a novel protein, ARL15, which influences circulating adiponectin levels and may impact upon CHD risk GeneRIF: Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Magnesium homeostasis is regulated by ARL15 through N-glycosylations of CNNMs., [RefSeq, PubMed]; 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": 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": "Q6IAD0", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9NXU5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6T311-1", "uniprot_id": [ { "id": "ARL9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6T311", "type": "external" } ], "mass": 20755.0, "length": 187, "protein_name": "ADP-ribosylation factor-like protein 9", "gene_name": "ARL9", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 9 isoform 2", "refseq_ac": [ { "id": "NP_996802", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_996802", "type": "external" } ], "gene_names_uniprotkb": "ARL9", "gene_names_refseq": "ARL9", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 9", "protein_names_refseq": "ADP ribosylation factor like GTPase 9; ADP-ribosylation factor-like 9; ADP-ribosylation factor-like protein 9 isoform 2; ADP-ribosylation factor-like protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:132946)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;15033445;16341674;32882327;36823542;38253038", "class_list": "", "function": "ARL9 is a member of the small GTPase protein family with a high degree of similarity to ARF (MIM 103180) proteins of the RAS superfamily.[supplied by OMIM, Nov 2008]., [RefSeq]; ARL9 is upregulated and serves as a biomarker for a poor prognosis in colon adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic significance of ARL9 and its methylation in low-grade glioma., [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": 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": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q6T311-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9N2-1", "uniprot_id": [ { "id": "ASCC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9N2", "type": "external" } ], "mass": 45509.0, "length": 400, "protein_name": "Activating signal cointegrator 1 complex subunit 1", "gene_name": "ASCC1", "organism": "Human", "refseq_name": "activating signal cointegrator 1 complex subunit 1 isoform b", "refseq_ac": [ { "id": "NP_001185727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185727", "type": "external" } ], "gene_names_uniprotkb": "ASCC1; CGI-18", "gene_names_refseq": "ASC1p50; ASCC1; CGI-18; SMABF2; p50", "protein_names_uniprotkb": "Activating signal cointegrator 1 complex subunit 1; ASC-1 complex subunit p50; Trip4 complex subunit p50", "protein_names_refseq": "ASC-1 complex subunit P50; activating signal cointegrator 1 complex subunit 1 isoform b; trip4 complex subunit p50", "tax_id": 9606, "disease": "Barrett's esophagus (Disease Ontology:DOID:9206); spinal muscular atrophy with congenital bone fractures 2 (MONDO:MONDO:0014807)", "pathway": " (hsa:51008); (R-HSA-112126)", "pathway_count": 2, "publication_count": 84, "publication_id_list": "11237011;12077347;12226667;12486230;12594517;16385451;16858410;19074642;20714506;21791690;22055184;23301498;24715725;25418920;25469497;25576301;25802875;25892735;26154972;26375851;26503956;26924529;26992070;27397612;27600516;27920218;28063628;28218747;28514659;28832583;28834231;28904123;29144457;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29997253;30484775;30524438;31217245;31799605;31844290;32157095;32265295;32350084;32387766;32488085;32502341;32938616;32983136;33091337;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34204919;34211107;34509645;34561969;34932366;35051231;35561310;35580925;35838082;36010968;36284347;37938771;38750793", "class_list": "", "function": "ASCC1 inhibits NF-kappaB activation and a truncated and inactive variant of ASCC1 is associated with a more severe disease, which could have clinical value for assessing the progression and prognosis of Rheumatoid Arthritis., [RefSeq, PubMed]; ASCC1 structures and bioinformatics reveal a novel helix-clasp-helix RNA-binding motif linked to a two-histidine phosphodiesterase., [RefSeq, PubMed]; Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene., [RefSeq, PubMed]; Gastrin activates paracrine networks leading to induction of PAI-2 via MAZ and ASC-1., [RefSeq, PubMed]; Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in DNA damage repair as component of the ASCC complex (PubMed:29997253). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347). In cells responding to gastrin-activated paracrine signals, it is involved in the induction of SERPINB2 expression by gastrin. May also play a role in the development of neuromuscular junction., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Plays a role in DNA damage repair as component of the ASCC complex. Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation. In cells responding to gastrin-activated paracrine signals, it is involved in the induction of SERPINB2 expression by gastrin. May also play a role in the development of neuromuscular junction., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]; Three major genes, MSR1, ASCC1, and CTHRC1 were associated with Barrett esophagus/esophageal adenocarcinoma, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5SW06;Q5SW07;Q96EI8;Q9Y307", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006307 DNA alkylation repair;GO:0006355 regulation of DNA-templated transcription;GO:0006260 DNA replication", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q8N9N2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96IL0-1", "uniprot_id": [ { "id": "COA8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96IL0", "type": "external" } ], "mass": 24153.0, "length": 206, "protein_name": "Cytochrome c oxidase assembly factor 8", "gene_name": "COA8", "organism": "Human", "refseq_name": "cytochrome c oxidase assembly factor 8 isoform 3", "refseq_ac": [ { "id": "NP_001289582", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289582", "type": "external" } ], "gene_names_uniprotkb": "COA8; APOP1; APOPT1; C14orf153", "gene_names_refseq": "APOP1; APOPT1; APOP; C14orf153; COA8; MC4DN17", "protein_names_uniprotkb": "Cytochrome c oxidase assembly factor 8; APOP-1; Apoptogenic protein 1, mitochondrial; COA8", "protein_names_refseq": "UPF0671 protein C14orf153; apoptogenic 1, mitochondrial; cytochrome c oxidase assembly factor 8 isoform 3", "tax_id": 9606, "disease": "mitochondrial complex IV deficiency nuclear type 17 (Disease Ontology:DOID:0070502)", "pathway": " (hsa:84334)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;16712791;25175347;25576301;25892735;27600516;28904123;29242379;29577824;29769354;30552096;31844290;32983136;33592498", "class_list": "", "function": "Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency., [RefSeq, PubMed]; Required for cytochrome c complex (COX) IV assembly and function Protects COX assembly from oxidation-induced degradation, COX being the terminal component of the mitochondrial respiratory chain., [UniProtKB, PubMed, PubMed]; This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "H7C2Z1;Q53G28", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0099617 matrix side of mitochondrial inner membrane;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0050821 protein stabilization;GO:0000302 response to reactive oxygen species;GO:0097193 intrinsic apoptotic signaling pathway;GO:0033617 mitochondrial respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q96IL0-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04632-1", "uniprot_id": [ { "id": "CPNS1_HUMAN", "url": "https://www.uniprot.org/uniprot/P04632", "type": "external" } ], "mass": 28316.0, "length": 268, "protein_name": "Calpain small subunit 1", "gene_name": "CAPNS1", "organism": "Human", "refseq_name": "calpain small subunit 1 isoform 1", "refseq_ac": [ { "id": "NP_001003962", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003962", "type": "external" } ], "gene_names_uniprotkb": "CAPNS1; CAPN4; CAPNS", "gene_names_refseq": "CALPAIN4; CANPS; CANP; CAPN4; CAPNS1; CDPS; CSS1; PPH6", "protein_names_uniprotkb": "Calpain small subunit 1; CANP small subunit; CDPS; CSS1; Calcium-activated neutral proteinase small subunit; Calcium-dependent protease small subunit 1; Calcium-dependent protease small subunit; Calpain regulatory subunit", "protein_names_refseq": "CANP small subunit; calcium-activated neutral proteinase small subunit; calcium-dependent protease small subunit 1; calcium-dependent protease, small subunit; calpain 4, small subunit (30K); calpain regulatory subunit; calpain small subunit 1 isoform 1; calpain, small polypeptide; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "pulmonary hypertension, primary, 6 (MONDO:MONDO:0958334)", "pathway": " (hsa:826); (R-HSA-1474228); (R-HSA-6809371); (R-HSA-8862803); (R-HSA-9856530); (R-HSA-9860927)", "pathway_count": 6, "publication_count": 231, "publication_id_list": "10.1074/mcp.M114.046862;10066784;10196183;10229672;10231017;10376603;10386589;10411887;10513815;10588656;10604467;10639123;10649434;10706100;10764742;10771479;10809722;10830966;10986281;11237011;11350120;11375993;11380615;11590230;11853546;11872628;11968001;12176338;12724311;12727852;12843408;12902340;14973287;15033990;15104674;15234972;15304325;15337775;15590058;15591058;15718470;15797384;15803139;15958533;16061697;16133547;1649600;16631740;16639001;16780920;16825321;1698775;1707285;17332331;17354228;17515931;17562024;17596512;17608959;18280240;18434311;18658137;18691386;18710921;18843291;19010778;19020623;19190773;19194479;19571574;19608861;19657146;19714641;19723632;20068231;20142769;20166139;20179351;20657595;20667819;20940292;21030783;21297635;21439340;21441952;21654840;21670566;21784848;21864727;21872626;21993680;21997417;22159414;22223895;22899714;23035980;23186163;23301498;23481700;23629652;23845380;24029068;24714562;25418920;25469497;25576301;25645385;25813380;25880248;25892735;25926655;26154972;26375851;26390218;26728094;26811146;26929215;26992070;27543614;27566546;27797339;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28904123;29242379;29331515;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;3016651;30192525;3024120;30315122;30429286;30484775;30524438;30779550;30833945;31154438;31205027;31217245;31222486;31408443;31530632;31844290;31848261;31998317;32037480;32157095;32161166;32296767;32350084;32357974;32387766;32488085;32502341;32673515;32777225;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33760208;33887737;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34357683;34499618;34509645;34561969;34725712;35051231;35154160;35242109;35251023;35254053;35318648;35561310;35580925;36010968;36241641;36284347;37938771;38230350;38665916;39302247;39531497;40136647;40596516;40914422;41350704;7075587;7543090;7547873;7698360;7876172;8226919;8626565;8700127;8824274;8999895;9045906;9065415;9115292;9148753;9228946;9395522;9461298;9565599;9620797;9852107", "class_list": "", "function": "Capn4 contributes to tumor invasion and metastasis in gastric cancer via activation of the Wnt/beta-catenin/MMP9 signalling pathways., [RefSeq, PubMed]; Circular RNA ABCB10 promotes cell proliferation and invasion, but inhibits apoptosis via regulating the microRNA1271mediated Capn4/Wnt/betacatenin signaling pathway in epithelial ovarian cancer., [RefSeq, PubMed]; Identification of Crucial Genes and Key Functions in Type 2 Diabetic Hearts by Bioinformatic Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of Capns1 Predicts Poor Prognosis and Correlates with Tumor Progression in Renal Cell Carcinoma., [RefSeq, PubMed]; Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Essential for embryonic development (By similarity)., [UniProtKB, UniProtKB]; This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 2, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "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": "A8K0P1;Q8WTX3;Q96EW0", "ec_number_list": [], "go_molecular_function": "GO:0004198 calcium-dependent cysteine-type endopeptidase activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0110158 calpain complex", "go_biological_process": "GO:0006508 proteolysis;GO:0008284 positive regulation of cell population proliferation;GO:0016241 regulation of macroautophagy", "synthesized_glycan_count": 0, "hit_score": 24.0, "record_id": "P04632-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZVZ8-1", "uniprot_id": [ { "id": "ASB18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZVZ8", "type": "external" } ], "mass": 50803.0, "length": 466, "protein_name": "Ankyrin repeat and SOCS box protein 18", "gene_name": "ASB18", "organism": "Human", "refseq_name": "ankyrin repeat and SOCS box protein 18", "refseq_ac": [ { "id": "NP_997721", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997721", "type": "external" } ], "gene_names_uniprotkb": "ASB18", "gene_names_refseq": "ASB-18; ASB18", "protein_names_uniprotkb": "Ankyrin repeat and SOCS box protein 18; ASB-18", "protein_names_refseq": "ankyrin repeat and SOCS box protein 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:401036); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 133, "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;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;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;28218747;29153394;29437277;29557506;30610225;32005965;32284348;33444648;35051231;35318648;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins., [UniProtKB]; The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Feb 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": 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": "B6ZDL7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "Q6ZVZ8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16851-1", "uniprot_id": [ { "id": "UGPA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16851", "type": "external" } ], "mass": 56940.0, "length": 508, "protein_name": "UTP--glucose-1-phosphate uridylyltransferase", "gene_name": "UGP2", "organism": "Human", "refseq_name": "UTP--glucose-1-phosphate uridylyltransferase isoform b", "refseq_ac": [ { "id": "NP_001001521", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001521", "type": "external" } ], "gene_names_uniprotkb": "UGP2; UGP1", "gene_names_refseq": "DEE83; EIEE83; SVUGP2; UDPGP2; UDPGP; UDPG; UGP1; UGP2; UGPP1; UGPP2; pHC379", "protein_names_uniprotkb": "UTP--glucose-1-phosphate uridylyltransferase; 2.7.7.9; UDP-glucose pyrophosphorylase; UDPGP; UGPase", "protein_names_refseq": "UDP-glucose diphosphorylase; UDP-glucose pyrophosphorylase 1; UGPase 2; UTP--glucose-1-phosphate uridylyltransferase 2; UTP--glucose-1-phosphate uridylyltransferase isoform b; UTP-glucose-1-phosphate uridyltransferase; Uridyl diphosphate glucose pyrophosphorylase-1; testis tissue sperm-binding protein Li 58p; uridyl diphosphate glucose pyrophosphorylase 2", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 83 (Disease Ontology:DOID:0112218); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:7360); (R-HSA-173599); (R-HSA-3322077)", "pathway_count": 3, "publication_count": 89, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11322953;15044486;15607426;15930137;17599910;18040046;18070875;18077418;19608861;19651622;19699667;20068231;20166139;20357282;20538597;21356517;21406692;22132858;22223895;22248338;23186163;23663739;24275569;24714562;25416783;25538239;25544560;25576301;25860585;25880248;26216881;26758079;27397612;27600516;27846572;28510447;28904123;29493099;29557506;30779550;30833945;31154438;31217245;31820119;31844290;32157095;32188137;32350084;32357974;32488085;32502341;32733617;32897882;32938616;32983136;33298915;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34330832;34357683;34561969;34725712;34932366;35051231;35251023;35318648;35580925;36010968;36215666;37938771;38665916;40914422;4829444;5348606;5427280;7902568;8354390;8612650;8613547;8631325;9346895;9691087", "class_list": "glycogene", "function": "Defects in Galactose Metabolism and Glycoconjugate Biosynthesis in a UDP-Glucose Pyrophosphorylase-Deficient Cell Line Are Reversed by Adding Galactose to the Growth Medium. Publication Status: Online-Only, [RefSeq, PubMed]; Low UGP2 Expression Is Associated with Tumour Progression and Predicts Poor Prognosis in Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi. In liver and muscle tissue, UDP-glucose is a direct precursor of glycogen; in lactating mammary gland it is converted to UDP-galactose which is then converted to lactose. The eukaryotic enzyme has no significant sequence similarity to the prokaryotic enzyme. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; UDP-glucose pyrophosphorylase 2, a regulator of glycogen synthesis and glycosylation, is critical for pancreatic cancer growth., [RefSeq, PubMed]; UTP--glucose-1-phosphate uridylyltransferase catalyzing the conversion of glucose-1-phosphate into UDP-glucose, a crucial precursor for the production of glycogen., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, 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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 9, "reported_glycation": 0, "reported_snv": 492, "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": "Q07131;Q0P6K2;Q86Y81;Q9BU15", "ec_number_list": [ { "id": "2.7.7.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.9", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0003983 UTP:glucose-1-phosphate uridylyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0005977 glycogen metabolic process;GO:0007420 brain development;GO:0005978 glycogen biosynthetic process;GO:0006011 UDP-alpha-D-glucose metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q16851-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11940-1", "uniprot_id": [ { "id": "PABP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P11940", "type": "external" } ], "mass": 70671.0, "length": 636, "protein_name": "Polyadenylate-binding protein 1", "gene_name": "PABPC1", "organism": "Human", "refseq_name": "polyadenylate-binding protein 1", "refseq_ac": [ { "id": "NP_002559", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002559", "type": "external" } ], "gene_names_uniprotkb": "PABPC1; PAB1; PABP1; PABPC2; PABP", "gene_names_refseq": "PAB1; PABP1; PABPC1; PABPC2; PABPL1; PABP", "protein_names_uniprotkb": "Polyadenylate-binding protein 1; PABP-1; Poly(A)-binding protein 1", "protein_names_refseq": "poly(A) binding protein, cytoplasmic 2; polyadenylate-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:26986); (R-HSA-156827); (R-HSA-429947); (R-HSA-450408); (R-HSA-72649); (R-HSA-9010553); (R-HSA-975956); (R-HSA-975957); (R-HSA-9820841); (R-HSA-9820865); (R-HSA-9918487)", "pathway_count": 11, "publication_count": 268, "publication_id_list": "10.1101/2023.09.13.557529;10205060;10499800;10559216;10637334;10882133;11051545;11172725;11237011;11283721;11287632;11331269;11438674;11466336;11532962;11544179;11546874;11551508;11842200;11850402;11889047;11991638;11997512;12136087;12417715;12554878;12565831;12588972;12718880;12819195;12832468;1355481;14527413;14567916;14583602;14636577;14654843;14742663;14749774;14973490;15034551;15104674;15257295;15314026;15475613;15546618;15592455;15721257;16141059;16186820;16209946;16284618;16356927;16452507;16556936;16601204;16622410;16804161;17052452;17053788;17212783;17245413;17267499;17289661;17352659;17363904;17595167;17803942;17893241;17932509;18066079;18230761;18256688;18423202;18447580;18447585;18524595;18573886;18596238;18625844;18657639;18669648;18799579;18974281;18991276;19029303;19060897;19150429;19239894;19359157;19413330;19417104;19478851;19503078;19556969;19558367;19608861;19706539;19859661;19909264;20023408;20068231;20096703;20102337;20133758;20305658;20430826;20479275;20573744;20691628;20817927;20930030;21029861;21098120;21145460;21419344;21700224;21740066;21765940;21883093;22121020;22645359;22872150;23077296;23085078;23125361;23186163;23217742;23234702;23279204;23719902;23746841;24129315;24366607;24532714;24715725;25220460;25242263;25418920;25469497;25480299;25576301;25645385;25940091;26048577;26154972;26375851;26735137;26768311;26811146;26929215;26992070;27452731;27573237;27600516;27846572;27862975;27871484;27920218;28063628;28218747;28228285;28510447;28514659;28559491;28657654;28733330;28832583;2885805;28860189;28904123;28931820;29117567;29242379;29314611;29393594;29437277;29476152;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30444036;30484775;30524438;30573663;30620550;31217245;31530632;31649314;31844290;31848261;31998317;32119511;32157095;32161166;32245947;32350084;32357974;32387766;32488085;32502341;32502391;32870666;32890404;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33465208;33592498;33633747;33691108;33717175;33876849;33912179;33936100;33968037;34019948;34087483;34171305;34211107;34357683;34509645;34561969;34647228;34696522;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35254053;35318648;35561310;35580925;35585045;36010968;36215666;36241641;36284347;37217939;37938771;38177122;38665916;39334466;39531497;39534244;40307207;40596516;40914422;592399;641056;6853548;7908267;9099687;9548260;9582337;9732867;9857202", "class_list": "", "function": "(Microbial infection) Positively regulates the replication of dengue virus (DENV)., [UniProtKB, PubMed]; Binds the poly(A) tail of mRNA, including that of its own transcript, and regulates processes of mRNA metabolism such as pre-mRNA splicing and mRNA stability (PubMed:11051545, PubMed:17212783, PubMed:25480299). Its function in translational initiation regulation can either be enhanced by PAIP1 or repressed by PAIP2 (PubMed:11051545, PubMed:20573744). Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo. Binds to N6-methyladenosine (m6A)-containing mRNAs and contributes to MYC stability by binding to m6A-containing MYC mRNAs (PubMed:32245947). Involved in translationally coupled mRNA turnover (PubMed:11051545). 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 (PubMed:11051545). Involved in regulation of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons; for the recognition of premature termination codons (PTC) and initiation of NMD a competitive interaction between UPF1 and PABPC1 with the ribosome-bound release factors is proposed (PubMed:18447585). By binding to long poly(A) tails, may protect them from uridylation by ZCCHC6/ZCCHC11 and hence contribute to mRNA stability (PubMed:25480299)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Binds the poly(A) tail of mRNA., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; LINC01197 inhibits influenza A virus replication by serving as a PABPC1 decoy. Publication Status: Online-Only, [RefSeq, PubMed]; Nonsense-mediated decay-sensitive mRNA can be stabilized by tethering the cytoplasmic poly(A) binding protein 1, PABPC1, at a premature termination codon-proximal position., [RefSeq, PubMed]; The poly(A) nuclease interacts with the C-terminal domain of polyadenylate-binding protein domain from poly(A)-binding protein, [RefSeq, PubMed]; This gene encodes a poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3' poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The binding of this protein to poly(A) promotes ribosome recruitment and translation initiation; it is also required for poly(A) shortening which is the first step in mRNA decay. The gene is part of a small gene family including three protein-coding genes and several pseudogenes.[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": 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": 9, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q15097;Q93004", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008494 translation activator activity;GO:0003730 mRNA 3'-UTR binding;GO:0008143 poly(A) binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0016020 membrane", "go_biological_process": "GO:0070934 CRD-mediated mRNA stabilization;GO:2000767 positive regulation of cytoplasmic translation;GO:0048255 mRNA stabilization;GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;GO:0031047 regulatory ncRNA-mediated gene silencing", "synthesized_glycan_count": 0, "hit_score": 27.9, "record_id": "P11940-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75143-1", "uniprot_id": [ { "id": "ATG13_HUMAN", "url": "https://www.uniprot.org/uniprot/O75143", "type": "external" } ], "mass": 56572.0, "length": 517, "protein_name": "Autophagy-related protein 13", "gene_name": "ATG13", "organism": "Human", "refseq_name": "autophagy-related protein 13 isoform c", "refseq_ac": [ { "id": "NP_001136145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136145", "type": "external" } ], "gene_names_uniprotkb": "ATG13; KIAA0652", "gene_names_refseq": "ATG13; KIAA0652; PARATARG8", "protein_names_uniprotkb": "Autophagy-related protein 13", "protein_names_refseq": "ATG13 autophagy related 13 homolog; autophagy-related protein 13 isoform c; autophagy-related protein 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:9776); (R-HSA-1632852)", "pathway_count": 2, "publication_count": 91, "publication_id_list": "11096062;11237011;11825910;15187094;16963840;17618624;18321988;18439900;18936157;19211835;19225151;19287211;19322194;19590496;19597335;19855179;19898463;20059746;20713597;20921139;21177865;21205641;21258367;21383122;21460621;21795849;21819378;21855797;21976705;22170151;22682742;23043107;23186163;23202584;23481700;23685627;23727157;23884233;24275569;24290141;24747438;24954904;25484072;25568151;25576301;25645385;26236954;26299944;27334615;27600516;27846572;28904123;29493099;29557506;30620550;31020640;31154438;31530632;31733992;31844290;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33936100;33968037;34087483;34171305;34509645;35051231;35154160;35251023;35487443;35580925;36010968;36169801;36215666;36284347;37394799;37567770;39302247;7628435", "class_list": "", "function": "Autophagy factor required for autophagosome formation and mitophagy. Target of the TOR kinase signaling pathway that regulates autophagy through the control of the phosphorylation status of ATG13 and ULK1, and the regulation of the ATG13-ULK1-RB1CC1 complex. Through its regulation of ULK1 activity, plays a role in the regulation of the kinase activity of mTORC1 and cell proliferation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Elevated ATG13 in serum of patients with ME/CFS stimulates oxidative stress response in microglial cells via activation of receptor for advanced glycation end products (RAGE)., [RefSeq, PubMed]; MTORC1 suppresses autophagy through direct regulation of the approximately 3-MDa ULK1-Atg13-FIP200 complex., [RefSeq, PubMed]; Metamorphosis by ATG13 and ATG101 in human autophagy initiation., [RefSeq, PubMed]; The ULK-Atg13-FIP200 complexes are direct targets of mTOR and important regulators of autophagy in response to mTOR signaling., [RefSeq, PubMed]; The effect of lactoferrin on ULK1 and ATG13 genes expression in breast cancer cell line MCF7 and bioinformatics studies of protein interaction between lactoferrin and the autophagy initiation complex., [RefSeq, PubMed]; The functions of ULK1 and ULK2 are controlled by autophosphorylation and conformational changes involving exposure of the C-terminal domain and interaction with the putative human homologue of Atg13. GeneRIF: The gene product is the functional homologue of yeast Atg13, and required for autophagy in mammalian cells., [RefSeq, PubMed]; The protein encoded by this gene is an autophagy factor and a target of the TOR kinase signaling pathway. The encoded protein is essential for autophagosome formation and mitophagy. [provided by RefSeq, Oct 2016]., [RefSeq]; The role of the HORMA domain proteins ATG13 and ATG101 in initiating autophagosome biogenesis. 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 8, "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": "B4DFI4;D3DQQ1;D3DQQ2;E9PQZ8;Q53EN6;Q9BRL3;Q9H8B0", "ec_number_list": [], "go_molecular_function": "GO:0019209 kinase activator activity;GO:0019901 protein kinase binding;GO:0019887 protein kinase regulator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane;GO:0005776 autophagosome", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0008285 negative regulation of cell population proliferation;GO:1903955 positive regulation of protein targeting to mitochondrion;GO:0016236 macroautophagy;GO:0010508 positive regulation of autophagy", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "O75143-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULG1-1", "uniprot_id": [ { "id": "INO80_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULG1", "type": "external" } ], "mass": 176753.0, "length": 1556, "protein_name": "Chromatin-remodeling ATPase INO80", "gene_name": "INO80", "organism": "Human", "refseq_name": "chromatin-remodeling ATPase INO80", "refseq_ac": [ { "id": "NP_060023", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060023", "type": "external" } ], "gene_names_uniprotkb": "INO80; INO80A; INOC1; KIAA1259", "gene_names_refseq": "INO80A; INO80; INOC1", "protein_names_uniprotkb": "Chromatin-remodeling ATPase INO80; 3.6.4.-; DNA helicase-related INO80 complex homolog 1; DNA helicase-related protein INO80; INO80 complex subunit A; hINO80", "protein_names_refseq": "DNA helicase-related INO80 complex homolog 1; DNA helicase-related protein INO80; INO80 complex subunit A; chromatin-remodeling ATPase INO80; homolog of yeast INO80; putative DNA helicase INO80 complex homolog 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54617); (R-HSA-5689603); (R-HSA-5696394)", "pathway_count": 3, "publication_count": 78, "publication_id_list": "10391953;11237011;11279143;12732143;12815074;12944386;14742321;15811629;15882621;15964821;16223728;16230350;16298340;16473935;16678110;16906146;17081983;17139257;17693683;17721549;17882165;18026119;18452278;18497827;18669648;18922472;19109893;19188440;19608861;19609301;19691289;19815555;20068231;20237820;20436459;20687897;20805357;20855601;20971067;21135142;21303910;21388382;22118460;23045548;23319653;23481700;2530630;25892735;27846572;27939641;28904123;29437277;29557506;30379171;30429286;30484775;31844290;32157095;32265295;32357974;32387766;32488085;32938616;32983136;33592498;33658435;33724648;33912179;33968037;34509645;35051231;35154160;35580925;36241641;38253038;8168482;9528852;9790970", "class_list": "", "function": "ATPase component of the INO80 complex which remodels chromatin by shifting nucleosomes and is involved in DNA repair., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; ATPase component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and DNA repair (PubMed:16230350, PubMed:16298340, PubMed:17721549, PubMed:20237820, PubMed:20855601). Binds DNA (PubMed:16298340, PubMed:21303910). As part of the INO80 complex, remodels chromatin by shifting nucleosomes (PubMed:16230350, PubMed:21303910). Regulates transcription upon recruitment by YY1 to YY1-activated genes, where it acts as an essential coactivator (PubMed:17721549). Involved in UV-damage excision DNA repair (PubMed:20855601). The contribution to DNA double-strand break repair appears to be largely indirect through transcriptional regulation (PubMed:20687897). Involved in DNA replication (PubMed:20237820). Required for microtubule assembly during mitosis thereby regulating chromosome segregation cycle (PubMed:20237820)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; CHIP and BAP1 Act in Concert to Regulate INO80 Ubiquitination and Stability for DNA Replication., [RefSeq, PubMed]; INO80 participates in the pathogenesis of recurrent miscarriage by epigenetically regulating trophoblast migration and invasion., [RefSeq, PubMed]; Identifies INOC1 gene product as a SNF2-like helicase associated with human INO80 chromatin remodeling complex (hINO80). hINO80 includes orthologs of 8 subunits of the yeast INO80 complex, as well as additional, metazoan-specific proteins., [RefSeq, PubMed]; Report the cloning, expression, and functional activity of the domains from hINO80 gene both in terms of the DNA dependent ATPase as well as DNA binding activity, [RefSeq, PubMed]; This gene encodes a subunit of the chromatin remodeling complex, which is classified into subfamilies depending on sequence features apart from the conserved ATPase domain. This protein is the catalytic ATPase subunit of the INO80 chromatin remodeling complex, which is characterized by a DNA-binding domain. This protein is proposed to bind DNA and be recruited by the YY1 transcription factor to activate certain genes. 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": 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": 35, "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": "A6H8X4;Q9NTG6", "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": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "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": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "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": "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": "2.7.11.1", "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.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "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": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "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:0003677 DNA binding;GO:0003779 actin binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005819 spindle;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0060382 regulation of DNA strand elongation;GO:0033044 regulation of chromosome organization;GO:0006281 DNA repair;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q9ULG1-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true } ]